Cardiovascular and Respiratory Disease (A - Z)Intracranial Hemorrhage from Brain Malformations and Somatic Mmutation Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Intracranial hemorrhage in brain cerebrovascular malformations means that an abnormal blood vessel in the brain has leaked or burst and blood has collected inside or around the brain tissue. These ...
Cardiovascular and Respiratory Disease (A - Z)Congenital Cerebral Arteriovenous Malformation (AVM) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Congenital cerebral arteriovenous malformation (AVM) is a blood vessel problem that is present from birth. It is a tangled knot of arteries and veins inside the brain. In a normal brain, blood flows ...
Cardiovascular and Respiratory Disease (A - Z)Arteriovenous Malformation (AVM) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. An arteriovenous malformation (AVM) of the brain is an abnormal “tangle” of blood vessels where arteries connect directly to veins without the normal tiny vessels in between, called capillaries. ...
Cardiovascular and Respiratory Disease (A - Z)Cerebral Arteriovenous Malformation Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Cerebral arteriovenous malformation (often called a brain AVM) is an abnormal tangle of blood vessels in the brain where arteries connect directly to veins without the usual tiny capillaries in ...
Cardiovascular and Respiratory Disease (A - Z)Congenital Central Alveolar Hypoventilation Syndrome (CCHS) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Congenital Central Alveolar Hypoventilation Syndrome (often shortened to CCHS) is a rare condition where a person’s brain and autonomic nervous system do not control breathing automatically in a ...
Cardiovascular and Respiratory Disease (A - Z)Central Congenital Hypoventilation Syndrome (CCHS) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Central congenital hypoventilation syndrome (CCHS) is a rare condition present from birth (or sometimes showing later) where the brain’s automatic breathing control does not work well, especially ...
Cardiovascular and Respiratory Disease (A - Z)Central Hypoventilation Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Central hypoventilation syndrome means the brain does not send a strong enough “breathe” signal, especially during sleep. Because of this, a person breathes too shallowly or too slowly ...
Cardiovascular and Respiratory Disease (A - Z)Areolar Atrophy of the Macula Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Areolar atrophy of the macula means there is a clear, well-outlined “island” of damaged (thinned or missing) tissue in the macula, the small center part of the retina that gives sharp reading vision. ...
Cardiovascular and Respiratory Disease (A - Z)Central Areolar Choroidal Dystrophy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Central areolar choroidal dystrophy (often shortened to CACD) is a rare inherited (genetic) eye disease that mainly damages the macula, the small center area of the retina that you use for reading ...
Cardiovascular and Respiratory Disease (A - Z)Median Arcuate Ligament Syndrome (MALS) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Median arcuate ligament syndrome (MALS) is a rare condition where a band of tissue under the diaphragm (the median arcuate ligament) presses on the celiac artery (a major artery that feeds the upper ...
Cardiovascular and Respiratory Disease (A - Z)Dunbar Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Dunbar syndrome is a rare condition where a tight band of tissue under the diaphragm (the median arcuate ligament) presses on the celiac artery (a major artery that sends blood to the upper ...
Cardiovascular and Respiratory Disease (A - Z)Celiac Artery Compression Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Celiac artery compression syndrome is a rare condition where a tight fibrous band of the diaphragm (called the median arcuate ligament) presses on the celiac artery (a main blood vessel that feeds ...
Cardiovascular and Respiratory Disease (A - Z)Celiac Trunk Compression Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Celiac trunk compression syndrome is a rare condition where a tight band of tissue from the diaphragm (called the median arcuate ligament) presses on the celiac artery (also called the celiac trunk) ...
Cardiovascular and Respiratory Disease (A - Z)Tracheopulmonary Myiasis Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Tracheopulmonary myiasis means fly larvae (maggots) live inside the breathing tubes or lungs. The larvae may be in the trachea (windpipe), bronchi (main breathing tubes), or deeper in the air ...
Cardiovascular and Respiratory Disease (A - Z)Multifocal Ventricular Premature Heart Beats Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Multifocal ventricular premature beats are extra heartbeats that start too early in the lower chambers of the heart (the ventricles) and come from more than one spot inside the ventricles. On an ECG ...
Cardiovascular and Respiratory Disease (A - Z)Bidirectional Tachycardia Induced by Catecholamine Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Bidirectional tachycardia induced by catecholamine is a special type of dangerous fast heart rhythm that usually means a person has catecholaminergic polymorphic ventricular tachycardia (CPVT), a ...
Cardiovascular and Respiratory Disease (A - Z)Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Catecholaminergic polymorphic ventricular tachycardia, usually called CPVT, is a rare inherited heart rhythm problem. It causes very fast and dangerous heartbeats from the lower chambers of the heart ...
Cardiovascular and Respiratory Disease (A - Z)Hypertrophic Cardiomyopathy with Hypotonia and Lactic Acidosis Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. “Hypertrophic cardiomyopathy with hypotonia and lactic acidosis” describes a pattern of disease where (1) the heart muscle becomes abnormally thick (hypertrophic cardiomyopathy, or HCM), (2) body ...
Cardiovascular and Respiratory Disease (A - Z)Dilated Cardiomyopathy Caused by Anthracycline Toxicity Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Dilated cardiomyopathy from anthracyclines is a type of heart muscle weakness that can happen after receiving chemotherapy drugs such as doxorubicin, epirubicin, daunorubicin, or idarubicin. These ...
Cardiovascular and Respiratory Disease (A - Z)Cardiomyopathy due to Anthracyclines Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Cardiomyopathy due to anthracyclines means heart muscle damage caused by cancer drugs in the anthracycline family (for example doxorubicin, daunorubicin, epirubicin, idarubicin). These medicines can ...
Cardiovascular and Respiratory Disease (A - Z)Sagittal Craniostenosis with Congenital Heart Disease, Mental Deficiency and Mandibular Ankylosis Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis doctors today usually group it under Pfeiffer-type cardiocranial syndrome is a birth condition where ...
Cardiovascular and Respiratory Disease (A - Z)Congenital Valvular Heart Disease Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Congenital valvular heart disease means one or more heart valves were formed abnormally before birth. The valve can be too tight (stenosis), too leaky (regurgitation), under-developed, malformed (for ...
Cardiovascular and Respiratory Disease (A - Z)Myxomatous Valvular Dystrophy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Myxomatous valvular dystrophy means the mitral valve’s leaflet tissue becomes stretchy and thick with extra “myxoid” (gel-like) material. The leaflets and their supporting chords may lengthen and ...
Cardiovascular and Respiratory Disease (A - Z)FLNA-Related Valvular Dystrophy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. FLNA-related valvular dystrophy is a rare, inherited heart condition. It happens when a change (variant) in the FLNA gene weakens the support structure inside valve cells. The valve tissue becomes ...
Cardiovascular and Respiratory Disease (A - Z)Congenital Valvular Dysplasia Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Congenital valvular dysplasia means one or more of the heart’s four valves (aortic, pulmonary, mitral, tricuspid) do not develop with normal shape, size, or tissue structure in the fetus. The leaflet ...
Cardiovascular and Respiratory Disease (A - Z)Cardiac Valvular Dysplasia, X-Linked Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Cardiac valvular dysplasia, X-linked is a rare inherited heart condition where one or more heart valves are abnormally formed and become thick, soft (myxomatous), and leaky or narrowed over time. The ...
Cardiovascular and Respiratory Disease (A - Z)Ventricular Diverticulum Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. A ventricular diverticulum is a small pouch that grows out from the wall of a heart ventricle (the pumping chamber). The pouch is connected to the ventricle by a neck. Its wall is “true” heart wall. ...
Cardiovascular and Respiratory Disease (A - Z)Congenital Cardiac Diverticulum Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. A congenital cardiac diverticulum is a small pouch that sticks out from a heart chamber, most often the left ventricle. “Congenital” means the pouch is present from birth. The wall of the pouch is ...
Cardiovascular and Respiratory Disease (A - Z)Cardiac Diverticulum Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. A cardiac diverticulum is a small pouch that grows out from a heart chamber wall—most often the left ventricle. It is usually congenital (present from birth). Unlike an aneurysm (which is thinned and ...
Cardiovascular and Respiratory Disease (A - Z)Ankyrin-B Syndrome (ANK2-Related Cardiac Arrhythmia) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Ankyrin-B syndrome is a rare, inherited heart-rhythm disorder caused by harmful changes (variants) in the ANK2 gene. ANK2 makes a protein called ankyrin-B. Ankyrin-B acts like a “docking and ...
Cardiovascular and Respiratory Disease (A - Z)Ankyrin-B–Related Cardiac Arrhythmia Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Ankyrin-B–related cardiac arrhythmia is a rare, inherited heart-rhythm disease caused by changes (variants) in the ANK2 gene. This gene makes a scaffolding protein called ankyrin-B that helps anchor ...
Cardiovascular and Respiratory Disease (A - Z)Cardiac Anomalies—Heterotaxy Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Cardiac anomalies–heterotaxy syndrome (also called situs ambiguus) means the chest and belly organs did not line up in the usual left-right way during early development. It often comes with complex ...
Cardiovascular and Respiratory Disease (A - Z)Capillary Malformation-Arteriovenous Malformation (CM-AVM) Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a genetic condition that causes two main kinds of blood-vessel changes. First, many people have several small, pink-to-red flat ...
Cardiovascular and Respiratory Disease (A - Z)Systemic Capillary Leak Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Systemic capillary leak syndrome is a rare condition where tiny blood vessels (capillaries) suddenly become very leaky. Fluid and proteins that should stay inside the bloodstream escape into ...
Cardiovascular and Respiratory Disease (A - Z)Idiopathic Capillary Leak Syndrome (ICLS) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Idiopathic capillary leak syndrome is a very rare condition where tiny blood vessels (capillaries) suddenly become “leaky.” During an attack, fluid and proteins move out of the bloodstream into the ...
Cardiovascular and Respiratory Disease (A - Z)Clarkson Disease Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Clarkson disease is a very rare disorder where fluid and proteins suddenly leak out of tiny blood vessels (capillaries) into the body’s tissues. During an attack, blood pressure drops, the blood ...
Cardiovascular and Respiratory Disease (A - Z)Capillary Hyperpermeability Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Capillary hyperpermeability syndrome means the tiny blood vessels (capillaries) suddenly become “too leaky.” When they leak, protein-rich plasma leaves the bloodstream and moves into surrounding ...
Cardiovascular and Respiratory Disease (A - Z)Capillary Leak Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Capillary Leak Syndrome means fluid and proteins leak out of very small blood vessels (capillaries). The fluid moves into the tissues. Blood volume in the vessels drops. Blood pressure can fall to ...
Cardiovascular and Respiratory Disease (A - Z)Reactive Airways Dysfunction Syndrome (RADS) Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Reactive Airways Dysfunction Syndrome (RADS) is an asthma-like illness that starts suddenly after one accidental, very high exposure to an irritating gas, vapor, smoke, or fume (for example, a ...
Cardiovascular and Respiratory Disease (A - Z)Stripper’s Asthma Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist “Stripper’s asthma” is an old nickname doctors once used for a lung problem in textile mills. It referred to workers called “strippers” who cleaned or maintained cotton-processing machines. These ...
Cardiovascular and Respiratory Disease (A - Z)Mill Fever Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Mill fever is a short-term illness that happens after breathing a lot of textile plant dust, especially in cotton, flax, hemp, jute, or similar fiber mills. People feel flu-like sickness (feverish, ...
Cardiovascular and Respiratory Disease (A - Z)Flax-Dressers’ Disease Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Flax-dressers’ disease is a breathing problem caused by regularly inhaling flax plant dust while preparing or processing flax fibers. The very small dust pieces—and the bacterial substances ...
Cardiovascular and Respiratory Disease (A - Z)Cotton-Dust Asthma Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Cotton-dust asthma is breathing trouble caused by inhaling tiny dust particles from raw cotton and other plant fibers (like flax or hemp) in mills, gins, and textile plants. The dust irritates and ...
Cardiovascular and Respiratory Disease (A - Z)Cotton Workers’ Lung Disease Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Cotton workers’ lung disease—also called byssinosis—is a lung problem caused by breathing in dust from cotton, flax, or hemp during processing in mills and factories. The dust can trigger narrowing ...
Cardiovascular and Respiratory Disease (A - Z)Cotton Mill Fever Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Cotton mill fever is a short-lasting, flu-like illness that happens after breathing a large amount of cotton dust, usually inside textile mills. People feel feverish, chilled, achy, tired, and short ...
Cardiovascular and Respiratory Disease (A - Z)Cotton Dust Pneumoconiosis (Byssinosis) Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Cotton Dust Pneumoconiosis (Byssinosis) is a lung disease caused by breathing cotton dust (and sometimes flax, hemp, or jute dust) in textile work. The dust irritates and inflames the airways. Over ...
Cardiovascular and Respiratory Disease (A - Z)Byssinosis Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Byssinosis is a lung disease caused by breathing in dust from natural plant fibers at work. The dust most often comes from cotton. It can also come from flax or hemp. Tiny particles and bacterial ...
Cardiovascular and Respiratory Disease (A - Z)CACNB2-Related Brugada Syndrome Type 4 Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist CACNB2-Related Brugada Syndrome Type 4 is a heart-rhythm disorder that can cause dangerous fast rhythms in the lower chambers of the heart (ventricular arrhythmias) and fainting or sudden cardiac ...
Cardiovascular and Respiratory Disease (A - Z)Brugada Syndrome Caused by Mutation in CACNB2 Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Brugada syndrome caused by mutation in CACNB2 is a heart rhythm condition that makes the heart’s electrical system unstable. It can cause dangerous fast rhythms from the bottom chambers of the heart ...
Cardiovascular and Respiratory Disease (A - Z)Brugada Syndrome 4 Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Brugada syndrome 4 is a heart rhythm condition. It affects the tiny electrical signals that make your heart beat. In Brugada syndrome, those signals do not travel normally through the top right side ...
Cardiovascular and Respiratory Disease (A - Z)CACNA1C-Related Brugada Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist CACNA1C-related Brugada syndrome is a heart rhythm problem. It makes the lower chambers of the heart (the ventricles) beat in a dangerous way. It can cause fainting or even sudden death in people ...
Cardiovascular and Respiratory Disease (A - Z)Brugada Syndrome Caused by a CACNA1C Mutation Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Brugada syndrome (BrS) is a heart rhythm condition. It affects the heart’s electrical system and can cause dangerous fast rhythms from the lower chambers (ventricles). The typical sign is a special ...
Cardiovascular and Respiratory Disease (A - Z)Brugada Syndrome 3 Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Brugada syndrome 3 is a genetic heart-rhythm disorder caused by changes (variants) in a calcium-channel gene called CACNA1C. The gene change reduces the heart’s L-type calcium current. This can ...
Cardiovascular and Respiratory Disease (A - Z)Sudden Unexplained Nocturnal Death Syndrome (SUNDS) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Sudden unexplained nocturnal death syndrome (SUNDS) is a sudden death that happens during sleep in people who seemed healthy and whose autopsy shows no clear cause. Over the last few decades, doctors ...
Cardiovascular and Respiratory Disease (A - Z)Sudden Unexplained Death Syndrome (SUDS) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Sudden unexplained death syndrome is also written as SUDS or SUDY (sudden unexplained death in the young). When the death happens during sleep it is often called sudden unexplained nocturnal death ...
Cardiovascular and Respiratory Disease (A - Z)Pokkuri Death Syndrome (PDS) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Pokkuri Death Syndrome (PDS) is a traditional Japanese name for sudden, unexpected death during sleep in people with no obvious heart disease on autopsy. “Pokkuri” in Japanese means “suddenly and ...
Cardiovascular and Respiratory Disease (A - Z)Idiopathic Ventricular Fibrillation, Brugada Type Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Idiopathic ventricular fibrillation, Brugada type is a heart rhythm problem where the lower chambers of the heart (the ventricles) suddenly beat in a very fast and chaotic way (ventricular ...
Cardiovascular and Respiratory Disease (A - Z)Dream Disease Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist “Dream disease” is known as dream-related sleep disorders, especially nightmare disorder (also called dream anxiety disorder) and other parasomnias that center on disturbing dreams, dream enactment, ...
Cardiovascular and Respiratory Disease (A - Z)Brugada-Type Idiopathic Ventricular Fibrillation Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Brugada-type idiopathic ventricular fibrillation means a person has very fast, chaotic heartbeats (ventricular fibrillation) even though the heart looks normal on scans, and the ECG shows a Brugada ...
Cardiovascular and Respiratory Disease (A - Z)Bangungut Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bangungut is a Filipino word that literally relates to a terrifying nightmare. In medicine, it is the local name for Sudden Unexplained Nocturnal Death Syndrome (SUNDS)—a condition where a seemingly ...
Cardiovascular and Respiratory Disease (A - Z)Brugada Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Brugada syndrome is an inherited heart rhythm problem. It affects the way tiny “ion channels” move electricity in the heart’s cells. This can create a special ECG pattern in the right chest leads ...
Cardiovascular and Respiratory Disease (A - Z)Ventilator Lung in Newborns Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Ventilator lung in newborns means damage to a baby’s lungs caused or worsened by mechanical breathing support. The ventilator can save life, but if pressures, volumes, or oxygen levels are too high ...
Cardiovascular and Respiratory Disease (A - Z)Perinatal Bronchopulmonary Dysplasia (BPD) Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Perinatal bronchopulmonary dysplasia is a long-lasting lung disease that begins around birth in very small or very early babies. The air sacs and small airways in the lungs are still immature. After ...
Cardiovascular and Respiratory Disease (A - Z)Chronic Lung Disease of Prematurity Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Chronic lung disease of prematurity means a baby born very early has lungs that are not fully developed and get injured after birth. The lungs do not make enough tiny air sacs (alveoli). The blood ...
Cardiovascular and Respiratory Disease (A - Z)Bronchopulmonary Dysplasia (BPD) of the Newborn Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Bronchopulmonary dysplasia (BPD) is a long-lasting lung problem that affects some premature babies. It happens when a baby is born early and the lungs are still immature. The baby often needs help to ...
Cardiovascular and Respiratory Disease (A - Z)Congenital (Bronchogenic) Bronchial Cysts Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist A congenital bronchial (bronchogenic) cyst is a fluid-filled pocket that forms before birth from an early mistake when the baby’s windpipe and airways are developing. It comes from the primitive ...
Cardiovascular and Respiratory Disease (A - Z)Bronchogenic Cyst Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist A bronchogenic cyst is a congenital (born-with) fluid-filled pocket that develops when the early foregut (the tissue that becomes the airway) buds abnormally during weeks 4–7 of pregnancy. The cyst ...
Cardiovascular and Respiratory Disease (A - Z)Organizing Pneumonia Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Organizing pneumonia is a type of lung injury and repair. The tiny air sacs in the lung (the alveoli) and the small tubes that lead into them get damaged by something like an infection, a drug side ...
Cardiovascular and Respiratory Disease (A - Z)Constrictive Bronchiolitis Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Constrictive bronchiolitis—also called bronchiolitis obliterans—is a chronic disease of the small airways (the tiniest breathing tubes). In this condition, the lining of these tiny tubes becomes ...
Cardiovascular and Respiratory Disease (A - Z)Bronchiolitis Obliterans Syndrome Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Bronchiolitis obliterans syndrome is the name lung-transplant and blood stem-cell transplant teams use for a specific pattern of chronic, progressive small-airway scarring that narrows and finally ...
Cardiovascular and Respiratory Disease (A - Z)Bronchiolitis Fibrosa Obliterans Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Bronchiolitis fibrosa obliterans (also called bronchiolitis obliterans / obliterative or constrictive bronchiolitis) is a chronic lung disease that scars and narrows the smallest breathing tubes in ...
Cardiovascular and Respiratory Disease (A - Z)Bronchiolitis Obliterans with Obstructive Pulmonary Disease Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bronchiolitis obliterans with obstructive pulmonary disease is a small-airway disease also called constrictive bronchiolitis or obliterative bronchiolitis. It often follows a severe airway injury ...
Cardiovascular and Respiratory Disease (A - Z)Idiopathic Bronchiolitis Obliterans with Organizing Pneumonia Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Idiopathic bronchiolitis obliterans with organizing pneumonia is an inflammatory lung disease. The tiny airways (bronchioles) and the neighboring air sacs (alveoli) fill with small plugs of healing ...
Cardiovascular and Respiratory Disease (A - Z)Cryptogenic Organizing Pneumonitis Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Cryptogenic organizing pneumonitis (COP)—also called cryptogenic organizing pneumonia or bronchiolitis obliterans organizing pneumonia (BOOP)—is an inflammatory lung condition. Tiny air sacs ...
Cardiovascular and Respiratory Disease (A - Z)Cryptogenic Organizing Pneumonia (COP Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Cryptogenic organizing pneumonia (COP) is an inflammatory lung disease. “Cryptogenic” means the trigger is unknown. “Organizing pneumonia” describes the way the lung tries to heal after injury. Tiny ...
Cardiovascular and Respiratory Disease (A - Z)Bronchiolitis Obliterans Organizing Pneumonia (BOOP) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bronchiolitis Obliterans Organizing Pneumonia (BOOP)—most often called Organizing Pneumonia (OP), and Cryptogenic Organizing Pneumonia (COP) is a healing response of the lung after injury. Instead of ...
Cardiovascular and Respiratory Disease (A - Z)Genuine Diffuse Phlebectasia of Bockenheimer Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Genuine diffuse phlebectasia is a rare venous malformation. “Phlebectasia” means abnormally enlarged veins. In this condition, the enlargement is diffuse (spread out) and often involves most of a ...
Cardiovascular and Respiratory Disease (A - Z)Bockenheimer Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bockenheimer syndrome—also called Bockenheimer disease or genuine diffuse phlebectasia—is a rare vascular anomaly in which most of the length of one limb (arm or leg) contains abnormally enlarged ...
Cardiovascular and Respiratory Disease (A - Z)Blue Rubber Bleb Nevus Syndrome (BRBNS) Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Blue rubber bleb nevus syndrome (BRBNS)—also called Bean syndrome—is a rare condition where a person has many abnormal venous malformations (enlarged, sponge-like veins). These soft, blue-to-purple ...
Cardiovascular and Respiratory Disease (A - Z)Baroreflex Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Baroreflex syndrome—often called afferent baroreflex failure—is a rare problem in the body’s blood-pressure “autopilot.” Normally, stretch sensors in the carotid arteries and aorta send signals to ...
Cardiovascular and Respiratory Disease (A - Z)Baryta Miners’ Disease Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Baryta miners’ disease is a lung dust disease that happens after breathing barium sulfate dust for a long time, usually in barite (barytes) mines or dusty jobs that handle barite powder. Doctors call ...
Cardiovascular and Respiratory Disease (A - Z)Barium Pneumoconiosis Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Barium pneumoconiosis is a lung condition that happens when a person breathes in barium dust for many months or years, usually at work. The dust is most often barium sulfate (also called barite). The ...
Cardiovascular and Respiratory Disease (A - Z)Barium Lung Disease Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Barium lung disease, also called baritosis, is a type of pneumoconiosis (dust-related lung disease) that happens after breathing in barium dust for a long time, usually at work. In most people, it is ...
Cardiovascular and Respiratory Disease (A - Z)Baritosis Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Baritosis is a harmless (“benign”) form of pneumoconiosis that happens when people breathe in tiny particles of barium sulfate dust at work (for example, when crushing or milling barytes used in ...
Cardiovascular and Respiratory Disease (A - Z)Cardiac Arrhythmia Syndrome Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Cardiac arrhythmia syndrome means a group of conditions where the heart’s electrical system does not work in the normal way. The heart can beat too fast, too slow, or in an irregular pattern. When ...
Cardiovascular and Respiratory Disease (A - Z)Diaphragmatic Spinal Muscular Atrophy (SMARD) Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Diaphragmatic spinal muscular atrophy is a very rare neuromuscular disease in which the nerves that control muscles gradually stop working. The word “diaphragmatic” tells us that the main early ...
Cardiovascular and Respiratory Disease (A - Z)Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1) Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare, inherited nerve-and-muscle disease. It damages the lower motor neurons (the “wires” that carry signals from the spinal ...
Cardiovascular and Respiratory Disease (A - Z)Autosomal Recessive Distal Spinal Muscular Atrophy Types 1 Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Autosomal recessive distal spinal muscular atrophy 1 is a rare inherited nerve and muscle disease. It damages the lower motor neurons in the spinal cord that control movement, especially the nerves ...
Cardiovascular and Respiratory Disease (A - Z)Idiopathic (Autoimmune) Pulmonary Alveolar Proteinosis Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Idiopathic (autoimmune) pulmonary alveolar proteinosis is a rare lung disease where a soap-like substance called surfactant builds up inside the air sacs (alveoli). This buildup blocks oxygen from ...
Cardiovascular and Respiratory Disease (A - Z)Autoimmune Pulmonary Alveolar Proteinosis (aPAP) Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Autoimmune pulmonary alveolar proteinosis (aPAP) is a rare lung disease in which the tiny air sacs (alveoli) fill up with too much surfactant—a soapy, fat-protein substance that normally keeps the ...
Cardiovascular and Respiratory Disease (A - Z)Autoimmune Myocarditis Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Autoimmune myocarditis is inflammation of the heart muscle caused by the body’s own immune system attacking the heart by mistake. The immune system’s T cells, B cells, and antibodies become ...
Cardiovascular and Respiratory Disease (A - Z)Atrial Cardiomyopathy with Heart Block Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Atrial cardiomyopathy means the atria (the two upper heart chambers) are diseased. The atrial walls may be thick, stiff, stretched, scarred (fibrosis), inflamed, infiltrated by abnormal proteins, or ...
Cardiovascular and Respiratory Disease (A - Z)Atrichia with Papular Lesions (APL) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Atrichia with papular lesions (APL) is a very rare, inherited hair disorder. Babies are born with normal hair or some soft hair. During the first months of life, that hair falls out. It does not grow ...
Cardiovascular and Respiratory Disease (A - Z)Atrial Standstill Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist A sinus venosus atrial septal defect (often shortened to sinus venosus ASD) is a birth defect in the wall that separates the heart’s two upper chambers (the atria). In this special subtype, the ...
Cardiovascular and Respiratory Disease (A - Z)Sinus Venosus Atrial Septal Defect (SVASD) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist A sinus venosus atrial septal defect (SVASD) is a hole that is not in the true thin wall between the upper heart chambers (the inter-atrial “septal membrane”). Instead, it sits just next to that ...
Cardiovascular and Respiratory Disease (A - Z)Atrial Septal Defect – Ostium Secundum type (Secundum ASD / Fossa Ovalis ASD) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist An ostium secundum atrial septal defect is a birth-present hole in the thin wall (septum) between the two upper heart chambers (the atria). In the womb, every baby has a natural opening there to let ...
Cardiovascular and Respiratory Disease (A - Z)Primum Atrial Septal Defect (Ostium Primum ASD) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist A primum atrial septal defect is a birth defect in the wall between the two top chambers of the heart (the atria). The hole sits very low in that wall, close to the heart valves. Doctors call this ...
Cardiovascular and Respiratory Disease (A - Z)Partial Atrioventricular Canal Defect with an Isolated Atrial Component Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist A partial atrioventricular canal defect (often shortened to partial AVSD) is a birth defect of the heart where there is a hole low in the wall between the two upper chambers (the atria). This hole ...
Cardiovascular and Respiratory Disease (A - Z)Atrioventricular Defect with Atrial Shunting Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist An atrioventricular septal defect (AVSD) is a birth heart condition where the wall between the top chambers (atria) and the bottom chambers (ventricles) does not develop fully, and the two heart ...
Cardiovascular and Respiratory Disease (A - Z)Atrial Septal Defect Ostium Primum Type Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist An atrial septal defect (ASD) is a hole in the wall (septum) between the two top chambers of the heart (the atria). The ostium primum type is a special kind of ASD that sits very low in the atrial ...
Cardiovascular and Respiratory Disease (A - Z)Unroofed Coronary Sinus (URCS) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Unroofed coronary sinus (URCS) is a rare heart birth defect where part or all of the thin wall (the “roof”) that normally separates the coronary sinus (the main vein that drains blood from the heart ...
Cardiovascular and Respiratory Disease (A - Z)Atrial Septal Defect Coronary Sinus Type Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Atrial Septal Defect, coronary sinus type (also called unroofed coronary sinus) it’s a rare heart birth defect where the coronary sinus (a small venous channel that should drain heart-muscle blood ...
Cardiovascular and Respiratory Disease (A - Z)Atrial Septal Defect–Atrioventricular Conduction Defects Syndrome Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist ASD-AV conduction defects syndrome is a rare, inherited heart condition. A person has a hole between the heart’s upper chambers (an atrial septal defect, most often the ostium secundum type). The ...
Cardiovascular and Respiratory Disease (A - Z)Atrial Septal Defect (ASD) Associated with NKX2-5 Gene Mutation Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Atrial septal defect (ASD) means there is a hole in the wall (the septum) that separates the two top chambers of the heart (the right and left atria). Because of this hole, blood can flow from the ...
Cardiovascular and Respiratory Disease (A - Z)Atrioventricular (AV) Conduction Defects Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Atrioventricular conduction defects are problems with the heart’s “electrical wiring” between the upper chambers (atria) and lower chambers (ventricles). Signals normally pass through a relay station ...
Cardiovascular and Respiratory Disease (A - Z)Atrial Septal Defect (ASD) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Atrial Septal Defect (ASD) is a birth defect where there is a hole in the wall (septum) that separates the heart’s two upper chambers (the atria). Because of this hole, blood that should stay on the ...
Cardiovascular and Respiratory Disease (A - Z)Atrial Conduction Disease Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Atrial conduction disease means the electrical signal travels too slowly or gets blocked as it moves across the heart’s top chambers (the right and left atria). Normally, the signal starts in the ...
Cardiovascular and Respiratory Disease (A - Z)Pneumoconiosis from Asbestos Dust Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Pneumoconiosis from asbestos dust is long-term scarring of the lungs caused by breathing in asbestos fibers at work or in the environment. The tiny fibers travel deep into the air sacs and stay there ...
Cardiovascular and Respiratory Disease (A - Z)Asbestos Dust Pneumoconiosis (Asbestosis) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Asbestos dust pneumoconiosis, commonly called asbestosis, is a long-term (chronic) lung disease caused by breathing in tiny asbestos fibers at work or during building/demolition tasks. These fibers ...
Cardiovascular and Respiratory Disease (A - Z)Types of Asbestosis Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Asbestosis is a long-term scarring of the lungs caused by breathing in tiny asbestos fibers over many years, usually at work (for example, in construction, shipyards, insulation, or brakes). The ...
Cardiovascular and Respiratory Disease (A - Z)Intracranial Hemorrhage from Cerebrovascular Malformations Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Intracranial haemorrhage from cerebrovascular malformations means bleeding inside the skull that starts when an abnormal cluster of brain blood vessels leaks or bursts. These clusters are present ...
Cardiovascular and Respiratory Disease (A - Z)Intracranial Arteriovenous Malformation (Brain AVM) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist An intracranial arteriovenous malformation—often shortened to brain AVM—is an abnormal tangle of blood vessels inside the brain. In a normal brain, blood flows from arteries → tiny capillaries → ...