CHDs/Genetic Conditions/Related Syndromes

Heart Defects possible in Simpson-Golabi-Behmel Syndrome

What is Simpson-Golabi-Behmel syndrome? Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The otherContinue Reading

Heart Defects Present in Ellis-van Crevald Syndrome

What is Ellis-van Creveld syndrome? Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly),Continue Reading

Atrial Septal Defect Present in TARP Syndrome

TARP syndrome is a rare condition affecting males that causes several birth defects. TARP stands for Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava. Those with TARP syndrome have clubfoot deformity (talipes equinovarus) and congenital heart defects involving failure of the upper heart chambers to close (atrial septal defect). TheContinue Reading

Heart Defects possible with Peter Plus Syndrome

What is Peters plus syndrome? Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, developmental delay, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), and distinctive facial features. The eye problems seen in Peters plus syndrome occurContinue Reading

Heart Defects Present in Kleefstra Syndrome (9q34 deletion)

9q34 deletion syndrome, also known as Kleefstra syndrome, is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability. The facial features typically described include arched eyebrows, small head circumference, midface hypoplasia, prominent jaw and a pouting lower lip. Individuals with this diseaseContinue Reading

What is ALCAPA and ARCAPA?

To read about Anomalous Coronary Artery (ACA), click here.   ALCAPA Anomalous origin of the left coronary artery arising from the pulmonary artery (ALCAPA) is a rare but serious congenital anomaly. It was first described in 1866. The first clinical description in conjunction with autopsy findings was described by Bland and colleagues in 1933, soContinue Reading

Endocardial Cushion Defects

Endocardial cushion defects, more commonly known as atrioventricular (AV) canal or septal defects, include a range of defects characterized by involvement of the atrial septum, the ventricular septum, and one or both of the AV valves. Endocardial cushion defect is a congenital defect present at birth. The severity of the symptom complex and presentation isContinue Reading

Basic info on Tetralogy of Fallot

Tetralogy of Fallot Definition (TET, TOF): A type of heart defect present at birth (congenital) consisting of four different abnormalities. It usually results in insufficiently oxygenated blood being pumped to the body causing cyanosis (bluish discoloration of the skin). Causes, Incidences and Risk Factors: The cause of most congenital heart defects is unknown. Multiple factorsContinue Reading

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Why do I need to know about CPVT? CPVT is an uncommon, potentially lethal, treatable cardiac channelopathy (inherited heart rhythm syndrome). It is far less common than LQTS but does affect otherwise healthy infants, children, adolescents, and adults at an unacceptably high rate. However, with increased awareness, genetic testing, and effective treatment options, CPVT canContinue Reading

Lutembacher Syndrome

Lutembacher syndrome is a combination of mitral stenosis and a left-to-right atrial shunt, usually an ostium secundum atrial septal defect (ASD). Mitral stenosis is congenital or acquired (rheumatic heart disease). There is usually marked right ventricular hypertrophy and failure, and reduced blood flow to the left ventricle because blood flows back to the right atriumContinue Reading