Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus.

Mutations in the gene encoding the TFAP2B transcription factor can cause Char syndrome with cardiac, craniofacial, and hand abnormalities. However, TFAP2B mutations result in great phenotypic variability, which is believed to reflect different expression patterns of tissue-specific TFAP2 coactivators. We investigated a consanguineous family with isolated patent ductus arteriosus (PDA) for mutations in TFAP2B.

Management of Tako-tsubo syndrome.

Introduction: This manuscript reviews the current evidence for proposed pathophysiological mechanisms of Tako-tsubo syndrome and its management.

Discussion: The Tako-tsubo syndrome is defined by the presence of transient left ventricular apical ballooning after an acute coronary syndrome in patients with angiographically normal coronary arteries. Intriguingly, only the apex is affected and compensatory basal hypercontractility is seen.

Common arterial trunk associated with a homeodomain mutation of NKX2.6.

Persistent truncus arteriosus (PTA) is a failure of septation of the cardiac outflow tract (OFT) into the pulmonary artery and the aorta. A common arterial trunk (CAT) is often diagnosed as PTA in the absence of evidence of embryological mechanism. We have used autozygosity mapping of a large consanguineous family segregating CAT to map the causative locus to chromosome 8p21.