Cardioskeletal myopathy–neutropenia syndrome is a rare, inherited condition that mainly affects the heart muscle, skeletal (body) muscles, and white blood cells called neutrophils. The heart muscle becomes weak (cardiomyopathy). Body muscles are also weak (myopathy), so children tire easily and have trouble keeping up with others. Neutrophils are often low (neutropenia), so infections happen more often and can be serious. Many people with this syndrome also have a typical pattern on heart ultrasound called “left ventricular non-compaction.” The basic problem is inside cell “power plants,” the mitochondria. A gene change (most often in the TAZ gene on the X-chromosome) disrupts a fatty molecule called cardiolipin, which is essential for healthy mitochondrial membranes and energy production. Because many tissues depend on constant energy—especially the heart, skeletal muscle, and immune cells—they are the first to show problems. The condition usually begins in infancy or early childhood, but the course can vary. With careful heart care, infection prevention, and nutrition, many children and adults do well, though close medical follow-up is needed for life.
Cardioskeletal myopathy-neutropenia syndrome is a rare, inherited condition that mainly affects boys. It is caused by changes (variants) in the TAZ gene on the X-chromosome. This gene helps build cardiolipin, a key fat in the inner wall of mitochondria (the “power stations” in our cells). When cardiolipin is abnormal, the heart muscle and skeletal muscles are weak (cardiomyopathy and skeletal myopathy), and the body often makes too few neutrophils (neutropenia), a white blood cell that fights bacteria. Children may have feeding problems, slow growth, low muscle tone, exercise intolerance, and risk of heart rhythm problems. Care focuses on standard heart-failure therapy, safe infection prevention, and using G-CSF for significant neutropenia. In severe cases, some patients may need a defibrillator or a heart transplant. NCBI+1
Other names
Barth syndrome (BTHS) – the best-known name for this disorder
TAZ-related cardiomyopathy
3-methylglutaconic aciduria type II (because many patients have high 3-methylglutaconic acid in urine)
Cardiolipin remodeling disorder
X-linked cardioskeletal myopathy with neutropenia
(These names reflect the gene involved, the metabolic finding, and the main clinical picture.)
Types
Predominant cardiomyopathy type. Heart weakness is the main problem. Children may present with heart failure, poor feeding, and fast breathing. Skeletal muscle weakness and neutropenia are present but milder.
Predominant skeletal-muscle type. Exercise intolerance, muscle fatigue, and slow motor milestones come first. Heart function may be near normal at the start but needs lifelong monitoring.
Predominant neutropenia type. Repeated infections, mouth ulcers, and fevers are early signs. Cardiomyopathy may appear later or remain mild.
Left ventricular non-compaction (LVNC)-dominant type. The heart has a “spongy” inner layer visible on echo or MRI; pump function can be reduced or normal at first.
Infantile severe type. Early heart failure, failure to thrive, and serious infections in the first year of life. Needs urgent specialty care.
Attenuated/adult type. Symptoms are milder; diagnosis may come late, often after a relative is found to have the condition.
(These are clinical patterns, not separate diseases. They share the same root cause and often overlap.)
Causes
TAZ gene variants (X-linked). Pathogenic changes impair tafazzin, the enzyme that remodels cardiolipin in mitochondria, leading to unstable energy factories.
Cardiolipin deficiency/immature cardiolipin. Abnormal cardiolipin weakens the inner mitochondrial membrane and reduces ATP production.
Respiratory-chain stress. Faulty membranes disrupt electron transport, creating energy shortfalls in heart, muscle, and neutrophils.
High reactive oxygen species. Unstable mitochondria leak more free radicals, damaging cells and worsening muscle and heart function.
Impaired mitophagy. Damaged mitochondria are not cleared efficiently, so weak cells accumulate.
Abnormal neutrophil maturation. Bone marrow makes fewer fully working neutrophils, causing persistent or episodic neutropenia.
Infections (triggers). Viral or bacterial illnesses raise metabolic demand and can unmask heart or muscle weakness.
Fever or dehydration. These stress the heart, reduce perfusion, and can precipitate heart failure symptoms.
Nutritional deficits (calories/protein). Poor intake or malabsorption lowers growth and muscle strength, compounding weakness.
Electrolyte imbalance (e.g., low potassium/magnesium). Can worsen arrhythmias in an already vulnerable heart.
Anemia. Low oxygen delivery increases strain on the heart and muscles.
Overexertion without pacing. Excess activity beyond conditioning can trigger fatigue and cardiac symptoms.
Certain medicines (e.g., anthracyclines). Some drugs are toxic to the heart and should be avoided or used with extreme caution.
Untreated infections. Recurrent or severe infections inflame the body and can decompensate the heart.
Sleep-disordered breathing. Low nighttime oxygen increases heart workload.
Endocrine stress (thyroid/adrenal issues). Hormone problems can amplify fatigue and heart strain.
Growth spurts. Rapid growth periods raise energy needs and can highlight deficits.
Poor vaccination coverage. Increases risk of preventable infections in neutropenia.
Delayed diagnosis. Missed early signs means missed early heart and infection care.
Family planning without genetic counseling. Can lead to unrecognized recurrence risk and late detection.
Symptoms
Trouble feeding in infancy. Tires during feeds, sweats, or breathes fast—possible early heart failure.
Poor weight gain or “failure to thrive.” Not meeting growth curves due to high energy needs and feeding difficulty.
Shortness of breath with activity. The heart cannot pump enough during exertion.
Fatigue and exercise intolerance. Muscles tire quickly because of low cellular energy.
Frequent infections. Ear, sinus, chest infections, or skin infections due to neutropenia.
Mouth ulcers and fevers. Typical signs of low neutrophil counts.
Sweating with feeds or mild activity. The heart is working harder than usual.
Palpitations or fast heartbeat. Arrhythmias or compensation for weak pump function.
Swollen legs or belly (edema/ascites). Signs of heart failure in advanced cases.
Cough or breathing difficulty when lying down. Fluid in lungs from heart failure.
Muscle weakness and delayed motor milestones. Late sitting, standing, or walking; poor endurance.
Leg cramps or muscle pain after activity. Energy deficit in skeletal muscle.
Low appetite or feeding aversion. May relate to fatigue, reflux, or early fullness.
Pale or cool skin during illness. Poor perfusion when the heart struggles.
Learning or attention challenges (in some). Likely multifactorial—fatigue, illness burden, and nutrition.
Diagnostic tests
A) Physical examination
General and growth check. Weight, height, head size, and body mass help show under-nutrition or chronic illness; plotting on growth charts reveals trends.
Cardiovascular exam. Heart rate, rhythm, murmurs, gallops, liver size, and leg swelling indicate heart function and fluid status.
Respiratory exam. Listening for crackles suggests lung fluid from heart failure; work of breathing shows how hard the body is compensating.
Neuromuscular exam. Muscle bulk, tone, reflexes, and strength testing show myopathy and endurance limits.
B) Manual/bedside tests
Six-minute walk test (as feasible). Simple measure of exercise capacity and symptoms (fatigue, breathlessness) over time.
Orthostatic vitals. Heart rate and blood pressure changes from lying to standing reveal circulatory reserve and deconditioning.
Nourishment/feeding assessment. Calorie counts and feeding observation help quantify intake and fatigue during meals.
Heart failure bedside scores. Composite signs (like edema, liver size, respiratory rate) guide staging and follow-up needs.
C) Laboratory and pathological tests
Complete blood count with differential. Confirms absolute neutrophil count (ANC) and checks for anemia or platelet issues; trends show persistent vs episodic neutropenia.
Peripheral blood smear. Looks at neutrophil appearance and other cell lines; can point to maturation patterns.
Urine organic acids (3-methylglutaconic acid). Many patients have elevation; not specific alone but supportive with the right clinical picture.
Creatine kinase (CK), lactate, and pyruvate. Reflect muscle damage and mitochondrial energy stress.
Genetic testing (TAZ sequencing + deletion/duplication). Confirms the diagnosis, informs family counseling, and ends diagnostic odyssey.
Cardiolipin profiling (specialized). Assesses immature/mature cardiolipin ratios in cells—direct evidence of the remodeling defect.
D) Electrodiagnostic and functional cardiopulmonary tests
Electrocardiogram (ECG). Checks rhythm, conduction, chamber strain, and repolarization changes common in cardiomyopathy.
Holter or event monitor. Detects intermittent arrhythmias that a short ECG can miss, guiding treatment.
Electromyography (EMG) and nerve conduction studies (selected cases). Characterize myopathy vs neuropathy when clinical exam is unclear.
E) Imaging tests
Transthoracic echocardiogram (heart ultrasound). Core test: measures pumping (ejection fraction), chamber size, valve function, and LV non-compaction pattern.
Cardiac MRI. Defines heart structure more precisely, quantifies function, and detects fibrosis; helpful when echo is inconclusive.
Chest X-ray (supportive). Shows heart size and lung fluid during decompensation, useful in acute settings and follow-up.
Non-pharmacological treatments (therapies & others)
Heart-failure self-care coaching
Learning daily skills—checking weight, watching for swelling or breathlessness, spacing activities, and keeping vaccinations up to date—helps families act early if the heart is getting stressed. Purpose: reduce flare-ups and avoid hospital visits. Mechanism: early action (diuretic adjustment by clinicians, limiting excess salt/fluids) minimizes fluid overload and strain on the heart. NCBIIndividualized nutrition support
Small, frequent meals; texture changes for chewing difficulty; and calorie/ protein targets help growth while avoiding fatigue at meals. Purpose: maintain energy and growth without overtaxing weak muscles. Mechanism: matching intake to lower energy needs and feeding challenges common in Barth syndrome (sometimes using tube feeding) stabilizes weight and strength. Barth Syndrome Foundation+2Barth Syndrome Foundation+2Feeding therapy (OT/SLP)
Therapists teach safer chewing and swallowing, reduce gagging, and optimize posture at meals. Purpose: prevent aspiration and improve intake. Mechanism: motor and sensory training improves oral tone and coordination so children can eat better with less fatigue. Barth Syndrome Foundation+1Exercise & physical therapy
Gentle, regular activity (walking, cycling, play-based PT) builds endurance safely. Purpose: maintain function without provoking crashes. Mechanism: low-to-moderate activity improves mitochondrial efficiency and muscle conditioning in tolerated amounts; therapists cue rest breaks. Boston Children’s HospitalEnergy conservation & pacing
Breaking tasks into short steps with rests prevents overexertion. Purpose: reduce “boom-and-bust” fatigue. Mechanism: pacing matches energy delivery from impaired mitochondria to daily needs. NCBIInfection-prevention hygiene
Handwashing, dental hygiene, safe food handling, and avoiding sick contacts during neutropenic dips reduce infections. Purpose: prevent mouth ulcers/sepsis in neutropenia. Mechanism: fewer bacterial exposures when absolute neutrophil count is low. PMC+1Vaccination per guidelines
Keeping routine immunizations current (including influenza) lowers the chance of severe infection. Purpose: protect during neutropenic periods. Mechanism: vaccines prime other immune defenses when neutrophils are scarce. NCBIFever plan & urgent care pathway
Families learn to check ANC trends; any fever in known neutropenia triggers immediate medical assessment. Purpose: early antibiotics can be life-saving. Mechanism: rapid evaluation reduces time to therapy for possible sepsis. PMCTemperature & heat-intolerance precautions
Cool environments, hydration, and rest in heat waves. Purpose: avoid overheating that worsens mitochondrial stress. Mechanism: reduced thermal strain lowers metabolic demand on impaired muscle. Barth Syndrome FoundationDental care & mouth-ulcer prevention
Regular dental checks, soft toothbrushes, and saline rinses help. Purpose: limit bacterial load and painful ulcers common with neutropenia. Mechanism: fewer oral breaches means fewer infections. PMCCardiac rhythm monitoring & ICD planning
Ambulatory ECGs, risk review, and ICD discussion when indicated. Purpose: prevent sudden cardiac death. Mechanism: monitoring finds dangerous rhythms early; ICDs treat malignant arrhythmias automatically. NCBI+1Orthopedic care for posture/foot issues
Bracing, scoliosis watch, and foot care (talipes management). Purpose: ease walking and reduce pain. Mechanism: alignment support improves mechanical efficiency of weak muscles. NCBISchool accommodations
Rest breaks, elevator access, extra time for meals/tests. Purpose: protect stamina and nutrition at school. Mechanism: pacing reduces physiologic stress and supports growth. Barth Syndrome FoundationPsychological support & peer networks
Coping skills, family support, and connection with Barth communities. Purpose: reduce anxiety and improve adherence. Mechanism: better mental health supports consistent self-care. Barth Syndrome FoundationHome pulse-ox/weight tracking (as advised)
Spot checks during illnesses; daily weights during decompensation risk. Purpose: detect heart-failure fluid gain early. Mechanism: small weight jumps or low O₂ can trigger timely clinical adjustment. NCBISick-day heart-failure plan
When vomiting/diarrhea occurs, families get guidance on fluids and when to hold certain meds. Purpose: avoid dehydration and kidney injury. Mechanism: tailored adjustments prevent over- or under-diuresis. NCBISleep & rest optimization
Consistent sleep schedules and screening for sleep-disordered breathing. Purpose: improve daytime energy. Mechanism: better sleep enhances recovery in mitochondrial myopathy. NCBIMultidisciplinary clinic follow-up
Coordinated care with cardiology, hematology, nutrition, PT/OT, and genetics. Purpose: integrated decisions and fewer conflicts between therapies. Mechanism: shared plans align heart-failure, neutropenia, and feeding goals. Wiley Online LibraryAdvanced heart-failure evaluation (VAD/transplant readiness)
Timely referral to centers that manage pediatric VADs and transplant. Purpose: safe bridging when meds are no longer enough. Mechanism: VADs support circulation; transplant restores heart function. JHLT Online+2PMC+2Genetic counseling & family testing
Explaining X-linked inheritance and offering testing to relatives. Purpose: early diagnosis and planning. Mechanism: at-risk males can be monitored pre-symptomatically. NCBI
Drug treatments
NEW disease-specific therapy
Elamipretide (FORZINITY™; injection)
Long description: A mitochondria-targeted tetrapeptide that binds cardiolipin and stabilizes inner-mitochondrial-membrane structure, aiming to improve energy production and cellular resilience. In September 2025 the FDA granted accelerated approval for Barth syndrome, the first therapy specifically for this disease; effect confirmation is required. Class: Mitochondria-targeted peptide. Dosage/Time: Per label once available; early reports describe parenteral dosing schedules under specialist care. Purpose/Mechanism: Stabilizes cardiolipin to improve mitochondrial function, potentially enhancing exercise tolerance and cardiac/skeletal muscle performance. Side effects: Reported with elamipretide generally include injection-site reactions, headache, and nausea. (Use within specialist programs.) Stealth BioTherapeutics Inc.+1
Neutropenia (immune support)
- Filgrastim (NEUPOGEN®, G-CSF)
Long description: Recombinant human G-CSF that stimulates neutrophil production and release from bone marrow; widely used in Barth syndrome for chronic or cyclic neutropenia at low daily or intermittent doses under hematology guidance. Class: Colony-stimulating factor. Dosage/Time: Subcutaneous dosing individualized (oncology labels: e.g., 5 mcg/kg/day post-chemo; Barth regimens are often lower/long-term under specialist care). Purpose/Mechanism: Raises absolute neutrophil count to reduce severe infections and mouth ulcers. Side effects: Bone pain, splenomegaly/rare rupture, leukocytosis; monitor counts. FDA Access Data+2FDA Access Data+2 Pegfilgrastim (NEULASTA®)
Long description: Long-acting G-CSF for less frequent dosing. Class: Pegylated colony-stimulating factor. Dosage/Time: Typically one SC dose per chemotherapy cycle in oncology; in congenital/cyclic settings, dosing is specialist-tailored. Purpose/Mechanism: Sustained neutrophil support to prevent febrile infections. Side effects: Bone pain; rare splenic issues—educate on LUQ pain. FDA Access Data+1Sargramostim (LEUKINE®, GM-CSF)
Long description: GM-CSF that stimulates broader myeloid recovery. Class: Colony-stimulating factor. Dosage/Time: SC/IV dosing varies by indication; used off-label when G-CSF response is inadequate. Purpose/Mechanism: Boosts neutrophils/monocytes. Side effects: Fever, bone pain; caution in underlying cardiac stress. FDA Access Data+1
Heart failure—neurohormonal backbone
- Enalapril (VASOTEC®)
Long description: ACE inhibitor that reduces angiotensin II, lowering afterload and remodeling. Class: ACE inhibitor. Dosage/Time: Divided oral dosing; titrate to effect and kidney/potassium labs. Purpose/Mechanism: Improves symptoms and outcomes in cardiomyopathy. Side effects: Cough, hyperkalemia, renal function changes, angioedema (rare). FDA Access Data+1 Lisinopril (ZESTRIL®)
Long description: Once-daily ACE inhibitor alternative when enalapril not tolerated. Class: ACE inhibitor. Dosage/Time: Daily oral; adjust by BP/kidney function. Purpose/Mechanism: Same pathway as enalapril; reduces afterload and remodeling. Side effects: Similar to enalapril; warn about angioedema and potassium. FDA Access Data+1Losartan (COZAAR®)
Long description: ARB used when ACE-inhibitor cough or intolerance occurs. Class: Angiotensin receptor blocker. Dosage/Time: Daily oral; titrate. Purpose/Mechanism: Blocks AT1 receptor, reducing vasoconstriction and remodeling. Side effects: Hyperkalemia, dizziness; avoid in pregnancy. FDA Access Data+1Sacubitril/valsartan (ENTRESTO®/ENTRESTO® SPRINKLE)
Long description: ARNI combining neprilysin inhibition (↑natriuretic peptides) with ARB. Pediatric data/labeling support use in certain pediatric heart-failure populations. Class: ARNI. Dosage/Time: Oral tablets or sprinkle; monitor BP, potassium, renal function; 36-hour ACEi washout. Purpose/Mechanism: Improves neurohormonal balance and outcomes vs ACEi in many patients. Side effects: Hypotension, hyperkalemia, renal effects; angioedema risk. FDA Access Data+2FDA Access Data+2Carvedilol (COREG®)
Long description: Non-selective beta-blocker with alpha-blockade; a cornerstone of pediatric/adult DCM therapy. Class: Beta-blocker. Dosage/Time: Start low and uptitrate every 1–2 weeks as tolerated. Purpose/Mechanism: Lowers heart-rate/stress hormones, improves LV function and survival. Side effects: Fatigue, bradycardia, hypotension—go slow. FDA Access Data+2FDA Access Data+2Metoprolol succinate (extended-release)
Long description: Beta-1 selective alternative; once-daily. Class: Beta-blocker. Dosage/Time: ER daily; titrate to HR/BP. Purpose/Mechanism: Reduces sympathetic drive and arrhythmic risk. Side effects: Similar to carvedilol; watch for bradycardia. FDA Access Data+1Spironolactone (ALDACTONE®)
Long description: Mineralocorticoid receptor blocker that counters aldosterone-driven remodeling and potassium loss. Class: MRA. Dosage/Time: Daily; monitor K⁺ and creatinine. Purpose/Mechanism: Improves outcomes when added to ACEi/β-blocker loop diuretic. Side effects: Hyperkalemia, gynecomastia. FDA Access DataEplerenone (INSPRA®)
Long description: MRA with fewer endocrine side effects; helpful if spironolactone not tolerated. Class: MRA. Dosage/Time: Daily; watch drug interactions (CYP3A4). Purpose/Mechanism: Similar remodeling benefits. Side effects: Hyperkalemia; monitor closely. FDA Access Data+2FDA Access Data+2Furosemide (LASIX®)
Long description: Loop diuretic for fluid overload (edema, breathlessness). Class: Loop diuretic. Dosage/Time: Oral/IV; dose to symptoms and weight. Purpose/Mechanism: Increases urine output to reduce congestion. Side effects: Electrolyte losses, dehydration—avoid over-diuresis in Barth. FDA Access Data+2FDA Access Data+2Digoxin (LANOXIN®)
Long description: Inotropic agent for symptomatic HF and rate control in some arrhythmias; careful dosing in pediatrics. Class: Cardiac glycoside. Dosage/Time: Load then maintain when indicated; monitor levels. Purpose/Mechanism: Inhibits Na⁺/K⁺-ATPase to increase contractility and vagal tone. Side effects: Nausea, arrhythmias—dose carefully. FDA Access Data+2FDA Access Data+2Ivabradine (CORLANOR®)
Long description: Funny-current (If) inhibitor; lowers sinus rate without lowering blood pressure; pediatric indication for DCM in certain patients. Class: Heart-rate reducer. Dosage/Time: Oral twice daily with food; titrate to resting HR 50–60 bpm (adult ref) or per pediatric label. Purpose/Mechanism: Reduces myocardial oxygen demand and improves filling time. Side effects: Bradycardia, luminous phenomena. FDA Access Data+1Hydralazine/Isosorbide dinitrate (BiDil®)
Long description: Vasodilator combo that reduces afterload (hydralazine) and preload (nitrate); useful where RAAS blockers are limited or in selected patients for added afterload control. Class: Direct arterial/venous vasodilators. Dosage/Time: Multiple daily doses; titrate. Purpose/Mechanism: Improves hemodynamics when neurohormonal therapy alone is insufficient. Side effects: Headache, hypotension. FDA Access Data+1Warfarin (COUMADIN®) or other anticoagulants (specialist-guided)
Long description: Considered if LV thrombus, atrial fibrillation, or embolic risk (e.g., LV non-compaction with prior events). Class: Anticoagulant (vitamin K antagonist). Dosage/Time: Daily with INR monitoring. Purpose/Mechanism: Prevents clot formation and embolic stroke. Side effects: Bleeding; careful monitoring essential. FDA Access Data+1Loop/thiazide-type diuretic synergy (specialist use)
Long description: Sometimes a thiazide-type diuretic is added briefly to overcome diuretic resistance. Class: Diuretics. Dosage/Time: Short courses with lab monitoring. Purpose/Mechanism: Sequential nephron blockade mobilizes stubborn edema. Side effects: Electrolyte issues; avoid over-diuresis in Barth. NCBIAntiarrhythmic agents (case-by-case)
Long description: Drugs such as amiodarone may be used for significant arrhythmias when ICD not yet indicated or as adjunct. Class: Antiarrhythmic. Dosage/Time: Specialist-directed with monitoring. Purpose/Mechanism: Suppress dangerous rhythms pending device therapy or transplant evaluation. Side effects: Drug-specific; require monitoring. NCBIAntibiotics for febrile neutropenia (protocol-driven)
Long description: Broad-spectrum IV antibiotics started promptly for fever with low ANC. Class: Antibacterial agents. Dosage/Time: Hospital protocols guide selection/timing. Purpose/Mechanism: Rapid bacterial killing during periods when innate immunity is weak. Side effects: Drug-specific; watch for allergy and renal dosing. PMC
Dietary molecular supplements
Coenzyme Q10 (ubiquinol form)
Long description: Central electron-carrier and antioxidant supporting mitochondrial respiration. Dosage: Common mitochondrial disease practice: ~2–8 mg/kg/day (often divided); monitor levels and response. Function/Mechanism: May improve electron transport and reduce oxidative stress; consensus statements suggest offering CoQ10 to most mitochondrial patients. UMDF+1Riboflavin (vitamin B2)
Long description: Cofactor for flavoproteins (complex I/II pathways); sometimes helps mitochondrial myopathies. Dosage: Often 50–200 mg/day in divided doses under supervision. Function/Mechanism: Supports FAD-dependent enzymes and may boost residual respiratory-chain function. UMDFThiamine (vitamin B1)
Long description: Cofactor in pyruvate dehydrogenase and Krebs cycle. Dosage: 50–200 mg/day as advised. Function/Mechanism: May improve carbohydrate oxidation and energy yield in energy-limited muscle. PMCAlpha-lipoic acid
Long description: Antioxidant and mitochondrial cofactor. Dosage: 100–600 mg/day (adult practices) with clinician oversight. Function/Mechanism: Recycles antioxidants and may reduce oxidative stress from dysfunctional mitochondria. PMCVitamin E
Long description: Lipid-phase antioxidant. Dosage: As per RDA to modest pharmacologic doses under supervision. Function/Mechanism: Protects membranes (including cardiolipin-rich membranes) from peroxidation. PMCCreatine monohydrate
Long description: Energy buffer for muscle. Dosage: 0.1 g/kg/day (common sports/mito ranges) after clinician approval. Function/Mechanism: Increases phosphocreatine stores to help short-burst muscle energy. PMCL-carnitine
Long description: Shuttles long-chain fatty acids into mitochondria; evidence in Barth is mixed/controversial—use only if deficiency is documented. Dosage: Typically 50–100 mg/kg/day split, if used. Function/Mechanism: Supports fatty-acid oxidation; avoid if risks outweigh benefits. PMC+1Niacinamide (vitamin B3)
Long description: NAD⁺ precursor supporting redox reactions. Dosage: Per clinician guidance (e.g., 250–500 mg/day adults); pediatric dosing individualized. Function/Mechanism: May enhance cellular NAD⁺ pools to support mitochondrial enzymes. PMCTaurine
Long description: Amino-sulfonic acid involved in mitochondrial tRNA modification and membrane stabilization. Dosage: Specialist-guided; empirical use in mitochondrial clinics. Function/Mechanism: May support membrane and calcium handling; evidence remains limited. PMCVitamin D (with calcium as indicated)
Long description: Supports bone health and muscle function; deficiencies are common in chronic illness. Dosage: Repletion to target serum levels per guidelines. Function/Mechanism: Improves musculoskeletal health and reduces fracture risk in children with limited activity. PMC
Reality check: Supplements for mitochondrial disease have variable evidence; some trials show limited or no benefit. Use them only as an adjunct under a clinician experienced in mitochondrial disorders. Office of Dietary Supplements
Drugs for immunity booster / regenerative / stem-cell
Filgrastim (G-CSF) – boosts neutrophil production to prevent infections; SC daily/intermittent dosing tailored to ANC and infection history. Monitor for bone pain and spleen issues. FDA Access Data+1
Pegfilgrastim (long-acting G-CSF) – less frequent dosing to sustain neutrophil counts; used when fit for the clinical scenario. Watch typical G-CSF adverse effects. FDA Access Data
Sargramostim (GM-CSF) – broader myeloid stimulation if G-CSF response is suboptimal; monitor for fever and fluid shifts. FDA Access Data
IVIG (selected cases) – for patients with documented antibody deficiencies and recurrent infections; supports humoral immunity; dosing and candidacy are specialist-driven. NCBI
Elamipretide – mitochondria-targeted therapy with accelerated approval for Barth syndrome; aims to improve cellular energy and resilience (see above). Stealth BioTherapeutics Inc.
Hematopoietic stem-cell transplantation (HSCT) – NOT a drug but occasionally discussed when severe hematologic problems coexist; generally not standard for Barth and considered only in exceptional circumstances after expert consultation. Wiley Online Library
Surgeries/procedures (what they are & why done)
Implantable cardioverter-defibrillator (ICD)
An ICD is a small device placed under the skin with a lead to the heart. It continuously monitors heart rhythm and can deliver a shock to stop life-threatening arrhythmias. Why: Barth patients can develop dangerous rhythms; ICDs prevent sudden cardiac death when risk is high. NCBI+1Pacemaker
A pacemaker treats abnormally slow heart rhythms by sending regular electrical pulses so the heart does not beat too slowly. Why: Some Barth patients develop conduction problems or bradyarrhythmias requiring support. Barth Syndrome FoundationLeft ventricular assist device (VAD)
A mechanical pump surgically connected to help the left ventricle circulate blood. Why: Bridge to transplant or recovery in end-stage heart failure when medicines are not enough. PMC+1Gastrostomy tube (G-tube)
A feeding tube placed through the abdominal wall into the stomach for long-term nutrition. Why: Supports growth when oral intake is too hard or tiring due to feeding issues. Barth Syndrome FoundationHeart transplantation
Surgical replacement of the failing heart with a donor heart at specialized centers. Why: For intractable heart failure or arrhythmias not controlled by other therapies; outcomes in Barth appear similar to non-Barth transplant patients. PubMed+1
Practical preventions
Wash hands often; avoid sick contacts during neutropenia cycles. PMC
Keep vaccines up to date (including influenza). NCBI
Maintain dental hygiene; treat mouth ulcers early. PMC
Follow your heart-failure diet (limit excess salt; fluid guidance from clinicians). NCBI
Use pacing: short activity bouts with rests; avoid overheating. Barth Syndrome Foundation
Have a fever plan: any fever with known low ANC needs urgent evaluation. PMC
Monitor weight and symptoms; report sudden changes. NCBI
Attend multidisciplinary clinics regularly. Wiley Online Library
Keep a medication/supplement list to avoid interactions or duplications. FDA Access Data
Plan travel and school supports ahead (extra time for meals, rest periods). Barth Syndrome Foundation
When to see doctors
See your care team promptly for:
- Fever (≥38 °C/100.4 °F) or chills—especially if you know ANC is low. Reason: febrile neutropenia is an emergency. PMC
- Worsening breathlessness, swelling, sudden weight gain, fainting, palpitations, or chest pain. Reason: could signal heart-failure decompensation or dangerous arrhythmias. NCBI
- Poor feeding, dehydration, or vomiting/diarrhea that affects meds or fluids. Reason: dehydration can harm kidneys and destabilize heart-failure therapy. NCBI
- New mouth ulcers, dental infections, or skin infections. Reason: infection risk is higher during neutropenia. PMC
Foods to favor & to limit/avoid
What to eat (as tolerated):
Whole-grains (rice, oats, breads) for steady energy. Boston Children’s Hospital
Lean proteins (fish, eggs, poultry, legumes). Boston Children’s Hospital
Dairy/yogurt for calcium/vitamin D. Boston Children’s Hospital
Fruits and vegetables (aim for variety). Boston Children’s Hospital
Healthy oils (olive/canola) in small amounts. Boston Children’s Hospital
Soft textures if chewing is hard (soups, stews, smoothies). Barth Syndrome Foundation
Small, frequent meals/snacks to reduce fatigue. Barth Syndrome Foundation
Adequate fluids unless fluid-restricted. NCBI
Foods rich in magnesium/potassium if labs permit (bananas, beans)—coordinate with your team if on MRAs/ARNI. FDA Access Data
Vitamin-D sources (fortified milk, eggs) plus sun safety. PMC
What to limit/avoid (per your team’s advice):
Excess salt (packaged snacks, instant soups). Why: worsens fluid retention. NCBI
Very high-sugar drinks before meals if they suppress appetite. Barth Syndrome Foundation
Alcohol (older teens/adults): interacts with many meds and heart rhythm. NCBI
Large caffeine surges (energy drinks) that trigger palpitations. NCBI
Undercooked meats/eggs and unpasteurized foods during neutropenia. PMC
Grapefruit with eplerenone or other interacting meds (ask pharmacy). FDA Access Data
High-potassium substitutes without approval if on ACEi/ARB/ARNI/MRA. FDA Access Data
NSAID overuse (can worsen kidneys with RAAS blockers/diuretics). FDA Access Data
Mega-dosing supplements without supervision. Why: limited evidence and interactions. Office of Dietary Supplements
Dehydration during illness—follow sick-day plan. NCBI
Frequently asked questions (FAQs)
1) Is Barth syndrome always severe?
Severity varies widely—even within a family. Some boys have early severe cardiomyopathy; others have milder issues with good outcomes on standard care. Regular specialist follow-up is key. NCBI
2) Do neutrophil counts stay low all the time?
No. Neutropenia may be chronic, intermittent, or cyclic (often on a 21–28-day cycle). That is why symptom-based plans and periodic counts matter. Barth Syndrome Foundation
3) Is there a cure?
There is no definitive cure. In September 2025 the FDA granted accelerated approval of elamipretide for Barth syndrome; confirmatory evidence is required. Other treatments manage heart failure and neutropenia effectively for many patients. Stealth BioTherapeutics Inc.
4) Will my child need a heart transplant?
Only some do. A minority ultimately require transplant, and outcomes appear similar to non-Barth patients when transplant is indicated. PubMed
5) Are “mitochondrial cocktails” proven?
Evidence is mixed. Some experts recommend CoQ10 and selected vitamins, but high-quality trials are limited; use under specialist guidance. UMDF+1
6) How is feeding managed?
Small, frequent meals; texture changes; feeding therapy; and sometimes a G-tube for growth and safety. Barth Syndrome Foundation+1
7) Are beta-blockers and ACE inhibitors safe for kids?
Yes, when used and monitored by pediatric cardiology teams. They are part of guideline-directed therapy for pediatric DCM. FDA Access Data+1
8) What about ivabradine in children?
Ivabradine is FDA-labeled for pediatric DCM in selected patients; it slows the heart without lowering blood pressure. FDA Access Data
9) How do we handle fevers?
Treat any fever seriously if neutropenic. Have an urgent plan with your hematology team; seek care immediately. PMC
10) Can exercise hurt the heart?
Properly paced, low-to-moderate activity is helpful. Overexertion and heat stress should be avoided. Follow PT/cardiology advice. Boston Children’s Hospital
11) Are MRAs (spironolactone/eplerenone) useful?
They help block aldosterone-driven heart remodeling; labs must be checked for potassium and kidney function. FDA Access Data+1
12) Why do some children tire at meals?
Low tone, nausea, and sensory issues are common; therapy and small meals help. Barth Syndrome Foundation
13) Are antibiotics needed all the time?
No. But prompt, broad-spectrum IV antibiotics are standard for febrile neutropenia; long-term prophylaxis is individualized. PMC
14) Do G-CSF shots have long-term risks?
They are generally effective and well-tolerated in Barth syndrome; bone pain is common. Rare splenic issues require education. Dosing is the lowest effective amount. PMC
15) What specialists should we see?
Cardiology, hematology, genetics, nutrition, PT/OT, and often a dedicated Barth/mitochondrial clinic for coordinated care. Wiley Online Library
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The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: October 19, 2025.
