Clinical & Experimental Cardiology

Clinical & Experimental Cardiology
Open Access

ISSN: 2155-9880

Johnson J Yan

  • Review Article
    Studies on Aortic and Aortic Valve Diseases
    Author(s): Salah A. Mohamed, Johnson J Yan and Hans H SieversSalah A. Mohamed, Johnson J Yan and Hans H Sievers

    Bicuspid aortic valve (BAV) is the most common congenital cardiac malformation, with an estimated incidence of 1%–2% in the general population. Patients with BAV are predisposed to early and frequent stenosis, regurgitation, and endocarditis, often accompanied by aneurysm and dissection. A family-based genome-wide analysis found that BAV was linked to chromosomal regions 5q, 13q, and 18q, with autosomal dominant inheritance, reduced penetrance and a non-Mendelian inheritance pattern. Mutations in the transmembrane receptor-encoding gene NOTCH1 have been detected in familial and sporadic BAV cases. Mutations in the vascular smooth muscle cell alpha actin gene (ACTA2) have also been identified in BAV patients. Expression of UFD1L, a gene that is highly expressed in the outflow tract during embryogenesis, was downregulated in the cusps of BAV patients compared with those of control.. View More»
    DOI: 10.4172/2155-9880.1000265

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