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

Congenital Heart Problems Present in Williams Syndrome

Williams Syndrome is a rare neurodevelopmental disorder caused by a deletion of about 26 genes from the long arm of chromosome 7. It is characterized by a distinctive, “elfin” facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; mental retardation (for persons who are diagnosed as mentally retarded)Continue Reading

Heart Defects Present with Marfan Syndrome

Marfan syndrome is a disorder involving the body’s connective tissue. Connective tissue has many important functions, including the following: assisting with growth and development of the body’s cells, both before and after birth supporting tissues in the body acting as an adhesive to hold certain tissues together protecting joints facilitating the passage of light throughContinue Reading

Heart Defects Present with VACTERL/VATER Association

What is VACTERL association? VACTERL or VATER association is an acronym used to describe a series of characteristics which have been found to occur together. V stands for anomalies of the vertebrae, which are the bones of the spinal column. A stands for imperforate anus or anal atresia, or an anus that does not openContinue Reading