First locus for primary pulmonary vein stenosis maps to chromosome 2q

First locus for primary pulmonary vein stenosis maps to chromosome 2q.

AIMS Primary pulmonary vein stenosis (PVS) is a rare cardiac abnormality that exhibits a high morbidity and mortality rate. The disease is characterized by obstruction of the pulmonary venous blood flow owing to congenital hypoplasia of individual extra-pulmonary veins. We describe a consanguineous Turkish family with four affected siblings with primary PVS in association with prenatal lymphati...

A locus for primary ciliary dyskinesia maps to chromosome 19q.

Primary ciliary dyskinesia is an autosomal recessive condition characterised by chronic sinusitis, bronchiectasis, and subfertility. Situs inversus occurs in 50% of cases (Kartagener syndrome). It has an estimated incidence of 1 in 20 000 live births. The clinical phenotype is caused by defective ciliary function associated with a range of ultrastructural abnormalities including absent dynein a...

Primary Pulmonary Vein Leiomyosarcoma: A Case Report

Primary leiomyosarcoma of the heart is extremely rare and found in about 0.2% of all cardiac tumors. Here in a 26-year-old man with progressive dyspnea, which had started since 2 months ago, is presented. Echocardiography revealed a left atrial mass, which was suggestive for a atrial myxoma.On the surgery, a tumoral tissue in the left atrium and pulmonary veins with attachment to peripheral sof...

Familial primary pulmonary hypertension locus mapped to chromosome 2q31-q32.

Locus for atrial fibrillation maps to chromosome 6q14-16.

BACKGROUND Atrial fibrillation (AF), the most common clinical arrhythmia, is a major cause of morbidity and mortality. Although AF is often associated with other cardiovascular conditions, many patients present without an obvious etiology. Inherited forms of AF exist, but the causative gene has been defined only in a single family. We have identified a large family (family FAF-1) in which AF se...