Choanal atresia–hearing loss–cardiac defects–craniofacial dysmorphism syndrome is usually called Burn-McKeown syndrome. It is a very rare birth condition (congenital syndrome). Children with this syndrome are born with blocked or very narrow back parts of the nose (choanal atresia or stenosis), special facial shape, hearing loss, and often heart defects. Most children have normal intelligence.
Doctors now know that this syndrome happens when both copies of a gene called TXNL4A do not work properly. TXNL4A is a gene that helps make a small part of a large cell machine called the spliceosome. The spliceosome cuts and joins pieces of RNA (the “working copy” of genes) so that cells can make normal proteins. When TXNL4A does not work well, some proteins important for face, nose, ear, and heart development do not form in the right way. This leads to the pattern of problems seen in Burn-McKeown syndrome. Because the same gene is affected in every cell from early in pregnancy, the syndrome affects several body systems at the same time. It mainly involves the nose passages, ears and hearing, eyes and eyelids, the bones of the face, the heart, and sometimes the kidneys and growth.
Children who have choanal atresia, hearing loss, a congenital cardiac defect and craniofacial dysmorphism usually have a complex genetic or developmental syndrome. In simple words, several parts of the baby’s body grew differently in the womb. The back of the nose may be blocked (choanal atresia), the heart may have a structural hole or narrow valve, the ears may not hear well, and the face or skull may have a different shape.
Because several organs are involved, treatment is multidisciplinary. This means an ENT doctor, heart doctor (cardiologist), craniofacial surgeon, audiologist, speech therapist, dietitian, and psychologist usually work together as a team. The goal is simple: help the child breathe, eat, hear, grow, learn, and live as normally and happily as possible.
Another names and types
Burn-McKeown syndrome has several other names in medical books, because it was described by different groups at different times and because it overlaps with other craniofacial syndromes.
Other names (synonyms)
Burn-McKeown syndrome (BMKS) – the most common modern name.
Choanal atresia–hearing loss–cardiac defects–craniofacial dysmorphism syndrome – a long descriptive name that lists the main features (blocked nose, hearing loss, heart defects, special facial appearance).
Oculootofacial dysplasia (OOFD) – an older name used for similar cases before TXNL4A was discovered; it has now been grouped under Burn-McKeown syndrome.
TXNL4A-related craniofacial disorder (severe form) – modern genetic name, because the gene TXNL4A is involved.
Types inside the TXNL4A-related spectrum
Doctors now see Burn-McKeown syndrome as the most severe end of a group called TXNL4A-related craniofacial disorders. Within this spectrum, there are:
Isolated choanal atresia – only the back of the nose is blocked, with few or no other features; gene changes in TXNL4A can cause this in some people.
Choanal atresia with minor anomalies – blocked nose plus a few mild facial differences, but not the full classic picture.
Full Burn-McKeown syndrome – blocked or narrow choanae, typical facial shape, hearing loss, frequent heart defects, sometimes cleft lip/palate and short stature; this is the classic, multi-system syndrome.
Even inside one family, one child may have severe features and another may have milder features, even though they share the same TXNL4A gene changes.
Causes (explained in very simple steps – 20 items)
In real life, doctors know one main true cause: pathogenic (harmful) changes in both copies of the TXNL4A gene. All the items below are different parts or steps of how this main cause leads to the syndrome.
TXNL4A gene mutations
The direct cause is a harmful change (mutation) in both copies of the TXNL4A gene. This change may be in the gene itself or just in front of the gene (promoter) where the on–off switch sits. These mutations lower the amount of TXNL4A protein made by the cell and start the whole chain of problems.Promoter deletion in TXNL4A
Many children with Burn-McKeown syndrome have a small piece of DNA missing (a 34-base-pair deletion) in the promoter region of TXNL4A. This deletion makes it harder for the cell to turn the gene “on”, so less protein is produced.Other TXNL4A sequence variants
Some patients have changes inside the gene itself, such as splice-site, missense, or other variants, often together with a promoter deletion. These variants also reduce TXNL4A function and show that different kinds of changes in the same gene can cause the same syndrome.Autosomal recessive inheritance
Burn-McKeown syndrome follows an autosomal recessive pattern. This means a child must receive one non-working copy of TXNL4A from each parent. The parents usually have no symptoms because they still have one working copy each.Carrier parents
Each parent of an affected child is a “carrier” of one TXNL4A mutation. When both parents are carriers, each pregnancy has a 25% (1 in 4) chance of producing a child with the syndrome. This carrier situation is an important “cause” at the family level.Parental consanguinity (blood relation)
In some families, the parents are related by blood (for example, cousins). This increases the chance that both parents carry the same rare TXNL4A mutation, so the risk of a child with Burn-McKeown syndrome becomes higher.Faulty spliceosome function
TXNL4A makes part of the major spliceosome, a cell machine that edits newly made RNA. When TXNL4A is low, the spliceosome does not work perfectly. Some RNAs keep extra pieces (introns) or lose needed pieces (exons), which changes the proteins that are made.Abnormal processing of craniofacial RNAs
The face, nose, ears, and skull base develop from very sensitive tissues in the embryo. These tissues need correct splicing of certain RNAs. Reduced TXNL4A seems to disturb splicing in exactly these tissues, which helps explain why the face and nasal passages are strongly affected.Abnormal formation of the nasal choanae
During early pregnancy, the back of the nose should open into the throat. In this syndrome, the tissue between the nose and throat may not break down fully, or bone may form in the wrong place. This leads to choanal atresia (complete blockage) or stenosis (narrowing).Abnormal eyelid and eye-region development
The lower eyelids may develop gaps called colobomas. The openings of the eyelids can be short, and the eyes may be wider apart than usual (hypertelorism). These changes reflect disturbed development of the tissues around the eyes due to altered gene expression from faulty splicing.Abnormal external ear development
The ears can be large and stick out, and there may be extra skin tags in front of the ears. These features show that tissues forming the external ear are very sensitive to TXNL4A-related splicing problems.Middle and inner ear changes causing hearing loss
Hearing loss is often “mixed”, which means both the middle ear (bones and drum) and inner ear (cochlea and nerve) are affected. Abnormal development of these parts, again due to incorrect splicing during growth, is the direct cause of the hearing problems.Abnormal heart development
Some children develop congenital heart defects, especially patent ductus arteriosus (PDA) or septal defects. These come from disturbed development of heart tubes and vessels in the embryo, likely linked to the same splicing problem that affects the face.Cleft lip or palate
The upper lip and the roof of the mouth (palate) form when tissue shelves move together and fuse. In Burn-McKeown syndrome, this process can be incomplete, leading to unilateral cleft lip and/or cleft palate, again because of abnormal control of key developmental genes.Short stature
Many patients have mild short stature. This appears to be a downstream effect of the general developmental changes, but the exact mechanism is not yet clear. It may relate to energy use, feeding difficulties, or other subtle hormonal signals.Kidney anomalies
Some cases include kidney structure problems. The kidneys develop from tissue types that are also sensitive to subtle errors in gene splicing, so TXNL4A defects may affect them as well.Submucous cleft palate and micrognathia
Some children have only a partial palate defect (submucous cleft, hidden under the lining) or a small lower jaw (micrognathia). These are milder craniofacial effects of the same basic gene problem.Gene–environment interaction (possible but unclear)
At present, there is no strong proof that outside factors like medicines, infections, or toxins directly cause Burn-McKeown syndrome. However, scientists think that such factors might slightly change how severe the features are in a baby who already has TXNL4A mutations.Chance (random) events during early development
Even with the same gene changes, two children can look different. Small random differences in early cell growth and gene activity probably affect which organs are most strongly involved. This “developmental chance” also acts as a cause of the final pattern of features.Unknown modifying genes
It is likely that other genes, which help control facial or heart development, can make Burn-McKeown syndrome milder or more severe. Research is still ongoing, so these modifiers are not fully known yet, but they are probably part of the cause of the wide variation between patients.
Symptoms and signs (15 key features)
Symptoms can differ from one person to another, even inside the same family. Below are 15 main features that doctors often look for.
Choanal atresia or choanal stenosis
The back of the nose, where it should open into the throat, is blocked (atresia) or very narrow (stenosis). This can affect one side or both sides, but in Burn-McKeown syndrome it is often bilateral. Newborns may have noisy breathing, trouble breathing when feeding, or need emergency surgery to open the airway.Breathing problems in newborns
Because babies mainly breathe through their nose in the first months of life, blocked choanae can cause severe breathing difficulty, blue color (cyanosis), or pauses in breathing. Symptoms may improve when the baby cries (because the mouth opens), which is a typical clue.Typical facial appearance (craniofacial dysmorphism)
Many children share a facial “pattern”: narrow eyelid openings, widely spaced eyes, a prominent high nasal bridge, thin upper lip, short distance between nose and upper lip (short philtrum), often with a small mouth opening and large, protruding ears. This pattern helps experienced doctors recognize the syndrome.Lower eyelid coloboma
A coloboma is a gap or notch in a structure that should be closed. In this syndrome, the lower eyelids may have a missing piece at the outer third, sometimes with extra eyelashes next to the gap. This can cause dry eyes, irritation, or risk to the cornea if not protected.Hearing loss (often mixed)
Hearing loss is very common and can be sensorineural (inner ear/nerve), conductive (middle ear), or mixed. Children may respond less to sounds, develop speech late, or need hearing aids or cochlear implants. Early testing and treatment are very important for language and learning.Preauricular tags and ear anomalies
Small skin tags may sit in front of the ears (preauricular tags), and the ears may be large, somewhat low-set, and stick out. These features do not usually cause serious health problems but are helpful diagnostic clues.Cleft lip and/or cleft palate
Some children have a cleft lip on one side, a cleft palate, or a submucous cleft palate that is hidden under the lining. These can lead to feeding difficulties, speech problems, and higher risk of ear infections, and often need surgery and speech therapy.Congenital heart defects
Heart problems such as patent ductus arteriosus (PDA) or small septal defects are reported. Babies may breathe fast, tire easily during feeding, or gain weight slowly. Some mild defects close by themselves; others need medicines or surgery.Short stature
Many patients are a little shorter than average. Growth may be mildly reduced but is usually not extremely short. Most children can still have normal activity and development with proper nutrition and medical care.Normal intelligence in most cases
Unlike some other craniofacial syndromes, intelligence is usually normal in Burn-McKeown syndrome. Children can attend regular school, especially if hearing and speech problems are treated early.Feeding difficulties in infancy
Because of nasal blockage, cleft palate, or small mouth, some babies may have trouble sucking and swallowing. They may need special bottles, feeding support, or temporary tubes until surgery and growth improve the situation.Recurrent ear infections
Ear and palate differences can lead to fluid behind the eardrum and frequent ear infections. This can further reduce hearing and may require ear tubes and regular ENT follow-up.Eye surface problems
Because of lower eyelid colobomas and incomplete eyelid closure, some children develop dry eyes, irritation, or risk of corneal damage. They may need eye drops, ointment, or surgery to protect the eyes.Kidney structural anomalies (in some cases)
Some reports mention anomalies of the kidneys. Most are mild but need checking with ultrasound, because kidneys are important for fluid and blood pressure control.Psychosocial and cosmetic concerns
As children grow, facial differences and hearing loss can affect confidence and social life. Support from family, teachers, psychologists, and craniofacial teams helps children build a positive self-image and participate fully in school and community life.
Diagnostic tests (20 tests in five groups)
Diagnosing Burn-McKeown syndrome usually needs both clinical examination and genetic testing. Many tests are not specific for this syndrome, but together they help confirm the diagnosis and guide treatment.
Physical examination tests
Newborn general physical exam
Right after birth, doctors examine the baby’s color, breathing, heart sounds, feeding, and overall appearance. In this syndrome, they may notice breathing difficulty, odd nose shape, blocked nasal airflow, and typical facial features. This first exam often raises the early suspicion.Detailed craniofacial examination
A specialist (often a clinical geneticist or craniofacial pediatrician) carefully studies the head, face, eyes, ears, nose, mouth, and jaw. They check for narrow eyelids, eyelid colobomas, large ears, cleft lip/palate, and mouth opening size. The pattern of these findings helps distinguish Burn-McKeown syndrome from similar conditions like CHARGE or Treacher Collins.Airflow test at each nostril
The doctor may gently place a small piece of cotton or use a cold metal surface under each nostril to see if air passes out during breathing. Little or no movement on both sides suggests bilateral choanal atresia or stenosis and prompts more detailed tests.Cardiovascular physical exam
The doctor listens to the heart with a stethoscope for murmurs, checks pulses, and looks for signs of heart failure such as fast breathing or enlarged liver. Abnormal findings suggest congenital heart disease like PDA, which is part of the syndrome in some children.
Manual / bedside ENT and craniofacial tests
Nasal endoscopy (flexible scope)
An ENT specialist may pass a very thin flexible camera through the nose to look at the back opening (choanae). If the scope cannot pass or shows tissue blocking the opening, this supports the diagnosis of choanal atresia or stenosis. This is a direct visual confirmation.Mirror or probe test for choanal patency
In some settings, a small metal mirror or soft catheter is gently placed at the back of the nose or through the nose to see if it can reach the throat. Failure of the probe to pass suggests the choanae are blocked. This is a simple bedside test used before imaging.Orofacial functional assessment
Speech and feeding therapists or craniofacial teams test how well the lips, tongue, and palate move during sucking, swallowing, and speaking. They look for signs of cleft palate, nasal escape of air when speaking, or poor lip seal. This helps plan feeding and speech treatment.Growth and development assessment
Height, weight, and head size are plotted on growth charts. Doctors also check milestones like sitting, walking, and talking. Children with Burn-McKeown syndrome usually have normal intelligence but may have mild growth reduction or delays related to hearing and feeding issues.
Laboratory and pathological tests
Genetic testing for TXNL4A variants
The key laboratory test is molecular genetic testing of the TXNL4A gene. This can include sequencing the gene and looking for the common 34-bp promoter deletions. Finding two harmful variants (one in each copy of the gene) in a person with typical features confirms the diagnosis.Broader gene panel or exome sequencing
If the diagnosis is unclear, doctors may order a craniofacial or choanal atresia gene panel, or whole-exome sequencing. These tests can look at many genes at once, including TXNL4A and genes for CHARGE, Treacher Collins, and similar disorders. This helps avoid misdiagnosis and finds the exact cause.Routine pre-surgical blood tests
Before operations (for example, opening the choanae or repairing a cleft lip), basic blood tests such as full blood count, clotting tests, and chemistry panel are done. These do not diagnose the syndrome but help check that the child is safe to undergo anesthesia and surgery.Genetic carrier testing for parents and siblings
Once the child’s TXNL4A mutations are known, parents and sometimes siblings can be tested to see if they are carriers. This does not change current treatment, but it is important for future family planning and for understanding recurrence risk.
Electrodiagnostic tests
Auditory brainstem response (ABR) test
ABR is a hearing test that measures brain responses to click sounds using small electrodes on the scalp. It does not need active cooperation, so it is very useful in babies and young children. ABR helps show how severe the hearing loss is and whether the inner ear and nerve are involved.Otoacoustic emission (OAE) testing
OAE testing measures small echoes from the inner ear after clicks are played into the ear. If OAEs are absent, it suggests inner ear hair cells are not working well. Together with ABR, OAEs help decide if hearing loss is conductive, sensorineural, or mixed.Electrocardiogram (ECG)
An ECG records the heart’s electrical activity using chest electrodes. It can find rhythm problems, strain due to heart defects, or effects of a large PDA. ECG is a standard part of heart evaluation in children with congenital heart disease.Polysomnography (sleep study) in some cases
If there is concern about sleep-related breathing problems, a sleep study can measure oxygen levels, breathing effort, and brain waves during sleep. Children with choanal atresia or residual airway narrowing may have obstructive sleep apnea that needs treatment.
Imaging tests
CT scan of nose and sinuses
A CT scan of the nose and sinuses with thin slices is the standard imaging test for choanal atresia. It shows whether the blockage is bony, soft tissue, or mixed, and helps surgeons plan the best way to open the choanae. It also gives detail about nearby skull base and facial bones.Echocardiogram (heart ultrasound)
An echocardiogram uses sound waves to create moving pictures of the heart and vessels. It can show a PDA, septal defects, valve problems, and heart pumping strength. This test is safe and painless and is essential in any child with suspected Burn-McKeown syndrome and a heart murmur.Renal (kidney) ultrasound
An ultrasound of the kidneys is sometimes done to look for structural anomalies that can appear in this syndrome. It is quick and uses no radiation. Finding a kidney defect helps the team plan follow-up for blood pressure, urine infections, and kidney function.Cranial and facial CT or MRI (when needed)
In complex cases, CT or MRI of the skull and face may be performed to assess jaw size, palate structure, and eye socket bones. This is especially useful when planning craniofacial surgery or when the doctor wants to rule out other syndromes with overlapping features.
Non-Pharmacological Treatments (Therapies and Others)
1. Multidisciplinary care team
A care team brings many specialists together to make one shared plan. The ENT looks after the nose and airway, the cardiologist manages the heart defect, the audiologist and speech therapist support hearing and speech, and the craniofacial surgeon plans facial repairs. This joined-up approach avoids conflicting advice and improves long-term growth, development, and quality of life.
2. Airway positioning and safety
Before and after choanal atresia surgery, babies may need special positions to keep breathing easier, such as lying slightly on their side or with the head raised. Nurses teach parents how to watch breathing, skin colour, and chest movements. Simple measures like avoiding soft pillows and keeping the crib clear of loose items lower the risk of airway blockage.
3. Saline drops and gentle nasal suction
Sterile salt-water drops and gentle suction with a bulb or soft catheter help loosen mucus in the nose. This is very important when the nasal passage is narrow or after surgery, because thick secretions can quickly block airflow. Parents are taught how often to do it and how to avoid trauma by not inserting tools too deeply.
4. Humidified air and oxygen as prescribed
Humidified air makes mucus thinner and easier to clear, so breathing is more comfortable. Some children also need low-flow supplemental oxygen through small nasal prongs, especially after heart or airway surgery. Oxygen levels are closely checked, because too much or too little oxygen can be harmful in babies with heart disease.
5. Specialized feeding techniques
Many infants with craniofacial problems and heart disease become tired quickly during feeding or have trouble coordinating sucking and swallowing. Nurses and speech-language therapists suggest special nipples, paced bottle feeding, chin support, or thickened feeds when needed. Feeding sessions are kept short but frequent to reduce fatigue and avoid aspiration (milk going into lungs).
6. Dietitian-led high-calorie nutrition
Children with congenital heart disease often burn extra calories just to breathe and pump blood. A paediatric dietitian designs high-energy, high-protein feeding plans using fortified breast milk or special formulas, so the child can grow with smaller feeding volumes. The diet is adjusted around surgery and illness to support wound healing and immune function.
7. Early hearing aids or bone-anchored devices
When hearing loss is present, early fitting of hearing aids or bone-anchored hearing devices gives the brain sound input during critical language-learning years. Better hearing supports speech, learning, and social skills. Audiologists fine-tune settings and teach parents how to use and care for the devices at home.
8. Speech and language therapy
Speech-language therapists help with sucking, swallowing, early communication, and later speech clarity. Children with craniofacial anomalies or hearing loss often need structured exercises to improve oral muscle strength, articulation, and language understanding. Early, regular therapy improves school-age speech and communication outcomes.
9. Developmental and physiotherapy support
Heart disease, long hospital stays, and repeated surgeries can delay sitting, walking, and fine motor skills. Physiotherapists and occupational therapists give play-based exercises to build strength, balance, and hand skills. Families learn simple home activities to keep progress going between clinic visits.
10. Educational and early-intervention programs
Some children with complex craniofacial syndromes have learning difficulties or attention problems. Early-intervention programs, special education support, and classroom adjustments help them keep up with school. Teachers are taught about the child’s hearing, speech, and health needs to create an inclusive environment.
11. Psychological and family counselling
Living with repeated hospital stays, visible facial differences, or hearing devices can be stressful for the child and family. Psychologists or counsellors provide coping strategies, support for anxiety or depression, and help siblings understand what is happening. Healthy emotional support improves adherence to treatment and overall well-being.
12. Parent education and emergency plans
Parents are taught to recognise danger signs: fast breathing, blue lips, poor feeding, weak cry, or unusual sleepiness. The team helps them create an emergency plan: which hospital to go to, which documents to carry, and who to call first. This education empowers families and can be life-saving in acute events.
13. Vaccinations and infection-control habits
Routine vaccines, plus additional shots recommended by the cardiologist, help protect children with heart and airway problems from serious infections. Families are encouraged to practise good hand hygiene, avoid smoke exposure, and reduce contact with sick people, especially in the first years or around surgeries.
14. Sleep support and possible CPAP/BiPAP
Craniofacial anomalies and choanal atresia can cause sleep-disordered breathing or obstructive sleep apnoea. Sleep studies may be done. Some children need non-invasive ventilation such as CPAP or BiPAP through a mask at night to keep the airway open and maintain oxygen levels while they sleep.
15. Dental and oral care
Abnormal tooth position, narrow jaws, and mouth breathing increase the risk of cavities and gum disease. Regular dental visits, fluoride treatments, careful brushing, and sometimes orthodontic care are needed. Good oral health also lowers the risk of certain heart infections in children with specific heart defects.
16. Scar management and facial physiotherapy
After craniofacial or nasal surgery, gentle massage, silicone gels, and stretching exercises can reduce tight scars and improve facial movement. Physiotherapists and surgeons guide timing, intensity, and safe techniques. This can make facial expression, eyelid closure, and mouth function more natural over time.
17. Hearing and communication strategies at home
Parents learn to face the child when speaking, use simple, clear sentences, and reduce background noise like TV. Visual supports such as gestures or pictures can help understanding. These everyday strategies make hearing aids or implants much more effective for language learning.
18. School and social inclusion planning
The team can write letters for the school explaining the child’s medical and hearing needs. Seating near the teacher, use of FM systems (teacher’s voice sent directly to hearing device), and extra time for tasks can be arranged. Social workers or psychologists help manage bullying or body-image worries.
19. Parent support groups and peer networks
Meeting other families living with similar syndromes helps parents feel less alone and gives practical tips. Peer support groups, either in person or online, can share experiences about surgeries, school issues, and emotional ups and downs. Many hospitals and charities host such networks.
20. Regular long-term follow-up
Because the child is still growing, heart function, airway size, hearing, teeth, and learning all change over time. Regular check-ups allow early detection of new problems and planning of further surgeries or therapies at the best times. Lifelong follow-up is often needed, especially for heart and hearing issues.
Drug Treatments
⚠️ Very important: All drugs and all doses must be chosen by a specialist doctor. Doses here are described in general terms only, not as instructions. Children, especially babies, need weight-based dosing and close monitoring.
1. Furosemide (loop diuretic)
Furosemide helps the kidneys remove extra salt and water from the body. In children with heart defects and heart failure, this reduces lung congestion, swelling, and breathing effort. It is usually given by mouth or injection in small, weight-based doses once or several times a day. Side effects can include low potassium, dehydration, and hearing changes, so blood tests and fluid balance are monitored.
2. Spironolactone (potassium-sparing diuretic)
Spironolactone blocks aldosterone, a hormone that makes the body hold on to salt and water. In some children with heart failure, it is added to furosemide to improve fluid control and protect the heart muscle. It is taken by mouth once or twice daily. Doctors watch blood potassium and kidney function because levels can rise too high, especially if other heart drugs are used.
3. Captopril (ACE inhibitor)
Captopril blocks angiotensin-converting enzyme, lowering blood pressure and helping the heart pump more easily. For some congenital heart defects with heart failure or leakage, it can improve symptoms and growth. It is given as small oral doses several times a day, carefully increased as tolerated. Low blood pressure, cough, and high potassium are possible side effects, and it must be avoided in pregnancy.
4. Other ACE inhibitors or ARBs
In older children or adults with residual heart dysfunction, other ACE inhibitors (like enalapril) or angiotensin-receptor blockers (like valsartan) may be used instead of or after captopril. They act on the same hormone system to reduce workload on the heart. Doctors choose the specific drug and schedule and monitor kidney function and potassium levels.
5. Digoxin (cardiac glycoside)
Digoxin increases the strength of heart muscle contraction and can slow certain fast heart rhythms. In paediatric heart failure, it may help improve symptoms and feeding tolerance in carefully selected children. The dose range is narrow, so blood levels, heart rhythm, and symptoms like nausea or vision changes are monitored closely to avoid toxicity.
6. Beta-blockers (e.g., propranolol, carvedilol)
Beta-blockers slow the heart rate and reduce its oxygen demand. In some complex heart conditions or rhythm problems they can improve heart function and reduce arrhythmias. They are started at low doses and increased slowly. Side effects can include low blood pressure, fatigue, and in some cases bronchospasm, so children with lung disease need special caution.
7. Sildenafil (Revatio) for pulmonary hypertension
Some children with congenital heart disease have high pressure in the lung arteries. Sildenafil, approved as Revatio for pulmonary arterial hypertension, relaxes these vessels by blocking the enzyme PDE-5 and increasing cGMP in smooth muscle. It is given as oral suspension or tablets in divided doses. Possible side effects include headache, flushing, nosebleeds, and blood-pressure changes, so specialist supervision is essential.
8. Diuretics in combination (e.g., thiazides)
Sometimes a second diuretic like a thiazide is added to furosemide and spironolactone to control stubborn fluid overload. This must be done only by cardiology teams, because the risk of electrolyte imbalance, kidney stress, and dehydration increases. Regular blood tests and careful adjustment of doses are mandatory.
9. Low-dose aspirin (antiplatelet)
In certain heart repairs or shunt procedures, low-dose aspirin may be used to reduce the risk of blood clots. The dose is usually once daily and adjusted by weight. Parents are told to watch for bruising, stomach upset, or bleeding and to discuss aspirin with doctors before any surgery or new medicine.
10. Anticoagulants (e.g., warfarin, heparin)
If the child has special heart patches, artificial valves, or certain rhythm problems, stronger blood thinners may be needed. These drugs reduce the risk of clots but increase bleeding risk, so blood tests like INR are checked regularly. Families receive careful teaching on dosing, diet interactions, and what to do after injury.
11. Antibiotics for infection and prophylaxis
Children with complex heart defects or airway problems may need antibiotics for chest infections, ear infections, or sometimes before dental or surgical procedures according to changing guidelines. The choice of antibiotic depends on the suspected bacteria and local resistance patterns. Overuse is avoided to reduce resistance and side effects like diarrhoea or allergy.
12. Pain relievers (paracetamol/acetaminophen, carefully selected NSAIDs)
After surgery, safe pain control is vital so the child can breathe deeply, cough, and move. Paracetamol is commonly used at weight-based doses. Non-steroidal anti-inflammatory drugs (NSAIDs) are used cautiously because they can affect kidney function and bleeding, especially after heart surgery. All pain medicines are planned by the surgical and ICU team.
13. Proton-pump inhibitors or H2 blockers
Reflux is common in babies with heart and airway problems and can worsen breathing or growth. Drugs like omeprazole or famotidine reduce stomach acid and protect the oesophagus. They are given for limited periods when clearly needed, because long-term use can affect nutrient absorption and infection risk.
14. Inhaled bronchodilators
If a child also has reactive airway disease or wheeze, inhaled beta-agonists through a spacer or nebulizer may open the airways and ease breathing. These drugs act on airway smooth muscle and are used only when indicated, as too-frequent use may signal worsening disease that needs urgent review.
15. Supplemental vitamins and minerals (prescription form)
In some children, doctors prescribe iron, vitamin D, or other micronutrients as medicines when blood tests show deficiency or risk. For example, vitamin D supplementation of around 400 IU/day in infants is widely recommended in many guidelines to prevent rickets. Doses and duration are strictly set by the paediatrician.
16. Sedation and anaesthetic agents
During major surgeries and some imaging tests, anaesthetists use carefully chosen sedative drugs so the child is pain-free and still. These drugs are given only in hospital with full monitoring. Afterwards, they are stopped and the child is watched closely for breathing and blood-pressure stability.
17. Antiarrhythmic medicines
If heart rhythm problems occur, specific antiarrhythmic drugs may be used, sometimes together with devices like pacemakers. The exact drug depends on the rhythm type and is selected by a paediatric electrophysiologist. These medicines require ECG monitoring and dose adjustments to avoid pro-arrhythmic effects.
18. Pulmonary vasodilator combinations
In severe pulmonary hypertension linked with heart defects, doctors may combine sildenafil with other lung-vessel drugs in specialist centres. This is advanced therapy, often guided by cardiac catheterization results. Side effects can be serious, so families must be followed in experienced pulmonary hypertension clinics.
19. Diuretic-sparing agents and fluid management plans
Sometimes, instead of increasing diuretic doses, clinicians adjust fluid intake and use other supportive drugs to control fluid status. These medication and fluid plans are individual, based on heart function and kidney tests, to avoid over- or under-diuresis.
20. Emergency medicines (in hospital only)
In intensive care, powerful drugs like inotropes (e.g., milrinone, adrenaline) may be used temporarily to support the heart during or after surgery. These are never home medicines; they are given with continuous monitoring and carefully weaned off when the child stabilises.
Dietary Molecular Supplements
Always discuss any supplement with the cardiologist and dietitian. Some “natural” products can be dangerous with heart drugs.
1. Vitamin D
Vitamin D helps bones, muscles, and the immune system. Many infants and children, especially those mostly indoors or with chronic illness, have low levels. Guidelines commonly advise 400 IU/day in infants and 600 IU/day in older children unless they drink enough fortified formula or milk. Too much vitamin D can cause high calcium and kidney problems, so lab checks and medical supervision are important.
2. Iron
Iron is needed to make haemoglobin in red blood cells, which carry oxygen. Babies with heart disease or frequent blood tests may develop iron-deficiency anaemia, making them pale and tired. Iron drops or syrups are given in weight-based doses and can darken stools or upset the stomach. Too much iron is harmful, so only prescribed supplements should be used.
3. Zinc
Zinc supports immune function, wound healing, and growth. Studies in infants with congenital heart disease show that low zinc levels are common and may worsen recovery. A dietitian or doctor may prescribe zinc supplements for a limited time, adjusting the dose to the child’s weight and kidney function. Nausea and metallic taste are possible side effects.
4. Omega-3 fatty acids
Omega-3 fats from fish oil or algae may help heart health, inflammation, and brain development. In children with complex cardiac disease, omega-3 supplements are sometimes used cautiously under specialist advice. The dose is based on body weight, and high doses can increase bleeding risk, especially with anticoagulants or aspirin.
5. Calcium and phosphorus (under guidance)
Calcium and phosphorus are critical for bone growth, especially in children who are underweight or have limited mobility and sunlight exposure. Supplements may be added to feeds in measured amounts when diet alone is not enough. Too much calcium can cause kidney stones or heart rhythm problems, so dosing must follow lab results and specialist advice.
6. B-vitamins including folate and B12
B-vitamins help with red blood cell production and nervous-system function. If blood tests show deficiency, a paediatrician may prescribe B-complex or separate folate/B12 supplements. This can improve energy, appetite, and growth. Because high doses can mask other problems, treatment is always based on clear indications, not just “tiredness”.
7. Protein supplements or modular feeds
Some infants with heart disease cannot take in enough protein from normal feeds. Special protein-rich powders or modular formulas can be added to breast milk or formula under dietitian supervision. They help reach protein targets (for example, around 2–4 g/kg/day in high-risk infants) without overly increasing fluid volume.
8. Medium-chain triglyceride (MCT) oil
MCT oil is a fat that is easier to absorb and provides dense calories in a small volume. It may be added to feeds for children with poor fat absorption or very high energy needs before or after heart surgery. Dietitians set the dose, because excess fat can cause diarrhoea or upset stomach.
9. Probiotics (case-by-case)
Probiotics are “good” bacteria that may improve gut health. In some high-risk children, especially in ICU, probiotics are used carefully to support digestion and possibly reduce some infections. However, in very immune-suppressed patients they can be risky, so the decision is made only by specialists.
10. Multivitamin preparations
When oral intake is limited or very selective, a paediatric multivitamin may be prescribed to cover small daily needs for many vitamins and trace elements. The formula and dose are chosen based on age, kidney and liver function, and the medications the child already takes, to avoid overlaps and toxicity.
Regenerative and Stem-Cell-Related Drugs
These options are not standard everyday treatments for this syndrome. They are mostly used in research or highly specialised centres and only inside clinical trials or very specific indications.
1. Cardiac stem-cell therapy (experimental)
Researchers are studying injections of stem cells from bone marrow or other sources into damaged heart muscle to improve pumping function. Early trials in children and adults with heart failure suggest possible improvements in heart contraction, but long-term safety and benefit are still being studied. These therapies are only available in research programmes, not routine clinic care.
2. Mesenchymal stem cells for lung and vascular repair
Mesenchymal stem cells (MSCs) from bone marrow, fat, or cord blood are being explored for treating lung injury and pulmonary hypertension. They may release growth factors that protect blood vessels and reduce inflammation. At present, this is experimental and carefully controlled, because there are concerns about immune reactions, abnormal growth, and unknown long-term effects.
3. Gene-based therapies for congenital heart disease (research)
Gene therapy aims to correct or compensate for defective genes involved in heart development. For now, most work is in animal models or early-phase human trials. The idea is to deliver a healthy gene to heart cells using viral vectors. Because safety is still being evaluated, these treatments are limited to clinical trials in specialised centres.
4. Tissue-engineered heart valves and patches
Scientists are developing heart valves and patches grown from the patient’s own cells seeded on special scaffolds. These might grow with the child, reducing the need for repeated heart operations. Some early tissue-engineered products have been used in selected patients, but they are not yet widely available and remain under long-term follow-up.
5. Regenerative approaches for craniofacial bone
In craniofacial surgery, bone grafts and experimental bone-tissue engineering techniques are being used to reconstruct skull and facial bones. These may combine stem cells with scaffolds and growth factors. For most children, standard surgical techniques using their own bone remain the mainstay; regenerative methods are added only in specialised centres and research projects.
6. Immunomodulating biologic drugs (for associated autoimmune issues)
Some craniofacial or cardiac syndromes may be linked with autoimmune problems that require biologic drugs (like monoclonal antibodies) to calm an over-active immune system. These are chosen based on the specific immune disease, not the craniofacial/heart syndrome itself, and are managed by paediatric immunologists or rheumatologists with close monitoring for infection and other side effects.
Surgeries (Procedures and Why They Are Done)
1. Endoscopic repair of choanal atresia
This key surgery opens the blocked back of the nose so the child can breathe through the nose. Using tiny endoscopes passed through each nostril, the surgeon removes the bony or soft tissue “plate” and widens the passage. Sometimes small stents are left in place for a short time to keep it open. The goal is stable nasal airflow and easier feeding and sleeping.
2. Corrective heart surgery or transcatheter procedures
Depending on the exact heart defect, surgeons may close a hole, widen a narrowed valve, repair a complex malformation, or re-route blood flow using patches and grafts. Sometimes this is done through open-heart surgery with a heart-lung machine; sometimes through a catheter inserted in a blood vessel. The purpose is to improve blood oxygen levels, reduce heart strain, and improve survival and quality of life.
3. Cochlear implant or middle-ear surgery
For severe hearing loss that does not improve with hearing aids, cochlear implant surgery places an internal device in the inner ear and an external sound processor behind the ear. Sound is converted into electrical signals directly sent to the hearing nerve, giving access to speech and environmental sounds. Middle-ear surgery may also repair ossicles or chronic ear disease to improve hearing.
4. Craniofacial reconstructive surgery
Craniofacial surgeons may reshape the skull, jaw, or midface to protect the brain and eyes, improve breathing, and enhance appearance. These operations are often staged over years, timed to growth spurts. They are carefully planned using scans and sometimes 3D models, and done by teams including neurosurgeons, plastic surgeons, and orthodontists.
5. Tracheostomy or other airway surgeries (in selected cases)
If the airway is very narrow or collapses despite nasal and facial procedures, a tracheostomy (small opening in the windpipe) may be needed, often temporarily. This allows direct breathing through a neck tube and can be life-saving while the child grows or awaits further reconstruction. The decision is major and made only after detailed team discussion with the family.
Prevention
Genetic counselling for future pregnancies – Families may be offered genetic testing and counselling to understand recurrence risks and options for prenatal diagnosis next time.
Healthy pregnancy habits – Avoid alcohol, smoking, and recreational drugs; manage diabetes and other chronic diseases well; and use only medicines approved by the obstetrician.
Folic acid and good maternal nutrition – Taking folic acid and eating a varied diet before and during pregnancy supports healthy organ development, though it cannot prevent all syndromes.
Early and regular prenatal care – Ultrasound and foetal echocardiography can sometimes detect heart and craniofacial defects before birth, allowing planned delivery in a specialist centre.
Avoid known teratogens – Some infections and substances are known to damage foetal development; vaccination and careful medication choices during pregnancy reduce risk.
Newborn screening and physical examination – Careful newborn checks for breathing, facial shape, and heart sounds help early diagnosis of syndromes with choanal atresia and heart defects.
Prompt referral when symptoms appear – Early specialist assessment for noisy breathing, poor feeding, or cyanosis (blue colour) can prevent serious complications.
Good infection control at home – Handwashing, smoke-free homes, and avoiding sick contacts help prevent chest infections that can be dangerous for heart and airway-fragile children.
Up-to-date vaccinations – Routine and recommended extra vaccines reduce risk of severe illnesses like pneumonia and flu that might stress the heart and lungs.
Regular long-term monitoring – Even after “successful” surgeries, ongoing follow-up catches later problems early and prevents them becoming life-threatening.
When to See Doctors Urgently
Parents or caregivers should seek urgent medical care or emergency services if they notice:
Very fast, laboured, or noisy breathing, grunting, or pauses in breathing.
Blue or grey lips, tongue, or fingertips, especially when feeding or crying.
Poor feeding, refusing feeds, or sweating and breathing hard during feeds.
Very low energy, difficult to wake, or sudden change in behaviour.
Unusual swelling of legs, belly, or around the eyes.
Fever, cough, or chest infection symptoms in a child with known heart or airway disease.
Even for less severe changes, it is wise to contact the child’s regular team early rather than wait.
What to Eat and What to Avoid
Eat: nutrient-dense small meals – Offer small, frequent feeds with enough calories and protein, as advised by the dietitian, because big meals can tire the child.
Eat: breast milk or suitable formula – Breast milk is usually best, but fortified formula may be needed for extra calories; this is fine and often recommended.
Eat: soft, easy-to-chew textures – For craniofacial or feeding problems, softer foods reduce effort and risk of choking; speech or feeding therapists can suggest suitable consistencies.
Eat: enough protein (meat, eggs, legumes, dairy if allowed) – Protein supports muscle, heart, and wound healing; the dietitian can show how to include it safely.
Eat: fruits and vegetables in manageable pieces – They supply vitamins, minerals, and fibre; soft, peeled pieces are easier for children with chewing difficulties.
Avoid: extremely salty foods – Chips, instant noodles, processed meats, and very salty snacks can worsen fluid retention in heart disease, so salt intake is often limited.
Avoid: very sugary drinks – Sweetened juices and sodas add calories without nutrients and can harm teeth and weight; water, breast milk, or formula are better main drinks.
Avoid: choking-risk foods – Whole nuts, hard candies, popcorn, and tough meat pieces are avoided or delayed in children with swallowing or airway problems.
Avoid: unapproved herbal or “heart” supplements – Many have not been tested in children and can interact dangerously with heart medicines or cause liver or kidney damage.
Follow: individual fluid and calorie plans – Some children must limit fluids, others need extra; only the cardiology/dietitian team can set safe daily targets.
Frequently Asked Questions
1. Is this condition curable?
The underlying genetic or developmental cause usually cannot be “cured”, but many of its effects can be greatly improved with surgery, medicines, and therapies. Children often gain good breathing, hearing, growth, and school function with proper long-term care.
2. Will my child need more than one surgery?
Often yes. Choanal atresia, heart defects, and craniofacial differences may each need separate procedures, sometimes staged over years as the child grows. The team explains the likely timeline so families can prepare emotionally and practically.
3. Can my child hear and speak normally?
Many children achieve good hearing and speech with early diagnosis, hearing devices or implants, and regular speech therapy. Some may still have mild to moderate difficulties and need support at school, but early intervention clearly improves outcomes.
4. Will my child’s heart be normal after surgery?
Heart surgery aims to make circulation as close to normal as possible, but some children still have mild leakage, rhythm issues, or reduced exercise capacity. Lifelong cardiology follow-up is important to monitor these and treat problems early.
5. How long will my child live?
Life expectancy depends on the exact defects, surgery success, and associated conditions. Survival for many congenital heart diseases has improved greatly over recent decades, with many people now living into adulthood. Your cardiology team can give the most realistic picture for your child’s specific case.
6. Can my child play sports or be active?
Most children are encouraged to be as active as their heart and lungs safely allow. The cardiologist may recommend limits on very intense exercise or contact sports, especially soon after surgery. Light to moderate activity is usually beneficial for fitness, mood, and social life.
7. Will my child look “normal” after craniofacial surgery?
Surgery aims to improve both function and appearance, but small differences may remain. As your child grows and their peers mature, many cosmetic differences become less noticeable. Psychological support and positive family attitudes also help body-image and self-confidence.
8. Is school safe for my child?
With proper planning, school is usually safe and important for social and learning development. The care team can send information to teachers about hearing support, activity limits, and what to do if the child becomes unwell. Some children may qualify for special educational services.
9. Can future babies in the family be affected?
Some syndromes have a higher chance of happening again; others are mostly one-off. Genetic counselling and, when appropriate, genetic testing can clarify the risk for future pregnancies and help families plan.
10. Are stem-cell or “regenerative” treatments available for my child now?
At present, most stem-cell and gene-based therapies for heart and craniofacial conditions are still in research stages. They may be available only in clinical trials at specialised centres, and not all children will qualify. Your specialist can explain whether any research study is appropriate or safe for your child.
11. Will my child always need medicines?
Some medicines are used only around surgery; others, like certain heart drugs, may be needed long term. Treatment plans often change over time as the child grows and surgery results are seen. Never stop or change medicines without checking with the cardiology team.
12. Can infections be especially dangerous?
Yes. Chest infections, flu, and other illnesses can be more serious in children with heart and airway problems. Vaccines, early medical review for fever and breathing problems, and good hygiene help reduce these risks.
13. What about dental care and heart infection risk?
Good dental hygiene is essential; some heart defects or repairs carry a risk of infective endocarditis (heart infection) from bacteria entering the blood during dental work. Dentists and cardiologists decide whether antibiotics are needed before certain procedures.
14. How often should we see the doctors?
In infancy, visits may be frequent (every few weeks or months). As the child grows and becomes stable, intervals may lengthen but rarely stop completely. Hearing, speech, dental, craniofacial, and heart follow-ups often follow separate schedules that the team will coordinate.
15. What can parents do day-to-day to help?
The most powerful things are giving love and emotional support, following medicine and therapy plans, watching for warning signs, and staying in regular contact with the care team. Keeping good written records of surgeries, test results, and medicines also helps every new doctor quickly understand your child’s history.
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: December 31, 2025.
