Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

Background: Sengers syndrome is an autosomal recessive condition characterized by congenital cataract, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. Mutations in the acylglycerol kinase (AGK) gene have been recently described as the cause of Sengers syndrome in nine families.

Methods: We investigated the clinical and molecular features of Sengers syndrome in seven new families; five families with the severe and two with the milder form.

Video-assisted thoracoscopic patent ductus arteriosus closure in 2,000 patients.

Video-assisted thoracoscopic surgery has proved to be a safe and effective method with low complication and high success rates. From 1997 to 2008, 2,000 consecutive patients with patent ductus arteriosus underwent closure of the ductus with 2 titanium clips via a video-assisted thoracoscopic technique. Complete closure was confirmed using our handmade intraesophageal stethoscope.

Congenital pulmonary arteriovenous malformation: a rare cause of cyanosis in childhood.

Pulmonary arteriovenous malformation (PAVM) is a rare condition in which there is abnormal connection between pulmonary arteries and veins. The disorder usually appears in late childhood or early adult life, with dyspnea on exertion, clubbing or cyanosis. We present two patients with severe cyanosis and their work-up to diagnosis of PAVM, as a rare cause of cyanosis in childhood.