Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature
familial multiple nevi flammei
Heart Valve Prolapse +
Hemophilia A with Vascular Abnormality
hereditary hemorrhagic telangiectasia +
May-Thurner Syndrome
Meningioangiomatosis
Microcephaly-Capillary Malformation Syndrome
mitral valve disease +
Patent Ductus Venosus
Prepapillary Vascular Loops
Primary Intraosseous Vascular Malformation
Pulmonary Atresia +
A congenital heart defect characterized by the narrowing or complete absence of the opening between the RIGHT VENTRICLE and the PULMONARY ARTERY. Lacking a normal PULMONARY VALVE, unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. Clinical features include rapid breathing, CYANOSIS, right ventricle atrophy, and abnormal heart sounds (HEART MURMURS).