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

Cayler Syndrome

Cayler Syndrome, also known as “Asymmetric Crying facies with Cardiac Defects,” is an extremely rare disorder characterized by Congenital Heart Defects (CHD) and the underdevelopment or absence of one of the muscles that control the movements of the lower lip. The disorder is present at birth (congenital) and is usually first noticed when the infantContinue Reading

Heart Defects Sometimes Present in Distal 18q-

Introduction There are two groups of people with 18q deletions: those with deletions involving the end of the chromosome (known as distal deletions), and those with deletions closer to the centromere (known as proximal deletions). The goal of this article is to describe the major features of distal deletions of 18q, which we will referContinue Reading

Endocardial Fibroelastosis

Endocardial fibroelastosis is characterized by diffuse endocardial thickening and myocardial dysfunction. The endocardial thickening is believed to be caused by persistent and increased wall tension in the ventricles, possibly secondary to damaged myocardium, mitral regurgitation, or both. It presents as unexplained heart failure in infants and children. The disease can be primary or secondary toContinue Reading