Sequence variation in results in a novel form of cardio-cutaneous syndrome.

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Sequence variation in results in a novel form of cardio-cutaneous syndrome.

Dilated cardiomyopathy (DCM) is a life-threatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged 4-30 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3.

Transcatheter closure of right-to-left interatrial shunts to resolve hypoxemia.

Background: Right-to-left interatrial shunts through an atrial septal defect or patent foramen ovale may result from congenital and acquired conditions. Right-to-left shunts may occur with normal pulmonary artery pressure and resistance as in right ventricular outflow tract obstruction leading to hypertrophy and reduced diastolic function, in right ventricle ischemia, myocarditis or cardiomyopathy and in orthodeoxia-platypnea syndrome.

Methods: We have tested the tolerance of trans-catheter closure of right-to-left interatrial shunts in 5 selected patients in whom the morphology and hemodynamics implied that it would be well-tolerated and improve functional capacity.

The familial form of atrial septal defect.

Background: The secundum atrial septal defect accounts for 10% of congenital heart disease. Familial occurrence is rare and may present as an isolated lesion or with conduction and skeletal abnormalities. Predisposing genes were described.

Anomalous origin of the main stem of the left coronary artery from the pulmonary trunk presenting with left ventricular hypertrophy.

Patients with anomalous origin of the left coronary artery from the pulmonary trunk may present with paroxysmal angina on exertion, congestive heart failure, dyspnoea, syncope or sudden death. The association of such anomalous origin of the left coronary artery from the pulmonary trunk with a hypertrophic left ventricle is extremely rare. In our cohort of patients with anomalous origin of the left coronary artery from the pulmonary trunk, two presented with a hypertrophic left ventricle.