Familial Ebstein's anomaly, left ventricular noncompaction, and ventricular septal defect associated with an MYH7 mutation

Novel mutation in exon 14 of the sarcomere gene MYH7 in familial left ventricular noncompaction with bicuspid aortic valve.

A 49-year-old man with bicuspid aortic valve (BAV) and mild-to-moderate aortic valvular stenosis was referred for investigation of a dilated cardiomyopathy. At the time of presentation, he was physically active, New York Heart Association class I. Physical examination revealed a grade III/ VI harsh crescendo-decrescendo murmur at right upper sternal border radiating to both carotids. His 12-lea...

A novel NKX2-5 mutation in familial ventricular septal defect.

Ventricular septal defect (VSD) is the most common cardiovascular malformation and an important contributor to the substantial morbidity and mortality in infancy. Growing evidence suggests that genetic defects play important roles in the pathogenesis of congenital VSD. However, VSD is of great genetic heterogeneity and the genetic basis for VSD in the majority of the patients remains largely un...

Ventricular septal defect originating from an apical left ventricular pseudoaneurysm.

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Familial left ventricular noncompaction associated with a novel mutation in the alpha-cardiac actin gene.

4. Gold MR, Birgersdotter-Green U, Singh JP, Ellenbogen KA, Yu Y, Meyer TE, et al. The relationship between ventricular electrical delay and left ventricular remodelling with cardiac resynchronization therapy. Eur Heart J. 2011;32:2516–24. 5. Kristiansen HM, Hovstad T, Vollan G, Keilegavlen H, Faerestrand S. Clinical 6. Miranda RI, Nault M, Johri A, Simpson CS, Michael KA, Abdollah H, et al. Ma...

Ebstein's anomaly with left ventricular noncompaction and bicuspid aortic valve.