Aortapulmonary Window
Aortopulmonary Window is a rare congenital heart defect in which there is a connection (window) between the aorta and the main pulmonary artery. This opening allows oxygenated blood to pass, [...]
Heart Defects Sometimes Present in Jarcho-Levin Syndrome
Jarcho Levin syndrome is a genetic birth defect which causes malformed bones in the spine (vertebrae) and ribs (called spondylothoracic dysostosis). The chest has a distinctive crab-like appearance. Infants born [...]
22q11 Deletion Disorders: DiGeorge and Velocardiofacial Syndromes
A few months ago, I created this post about the characteristics of DiGeorge Syndrome and VCFS. Here are some commonly asked questions regarding 22q11 deletion: What are DiGeorge syndrome and [...]
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 [...]
Brief Overview of Scimitar Syndrome
What is Scimitar Syndrome?Normal pulmonary venous circulation carries oxygenated blood from the alveolar capillaries to the left side of the heart for systemic distribution. In the Scimitar Syndrome (approximately 1-3 [...]
Heart Malformations Present in Klippel-Feil Syndrome
Klippel–Feil syndrome is a rare disease, initially reported in 1912 by Maurice Klippel and André Feil from France, characterized by the congenital fusion of any 2 of the 7 cervical [...]
Congenitally Corrected Transposition of the Great Arteries
Congenitally corrected transposition of the great arteries is a complex, unusual abnormality in which the pumping chambers (ventricles) and attached valves (mitral and tricuspid valves) are switched. This condition exists [...]
Heart Defects Present in Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder that affects the development of children both before and after birth. The syndrome was first described in 1964 in three boys with poor [...]
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 [...]
Heart Murmurs/Pulmonary Stenosis/Heart Defects Present with Alagille Syndrome
Alagille syndrome is an inherited disorder in which a person has fewer than the normal number of small bile ducts inside the liver. Bile ducts, also called hepatic ducts, are [...]