Literature DB >> 10526662

Familial coarctation of the aorta in three generations.

C Stoll1, Y Alembik, B Dott.   

Abstract

Four members in three generations of a family were affected by a coarctation of the aorta (CoA) which was mild or severe, either isolated or in association with other cardiac defects. This family suggests that a rare form of CoA could be the result of an autosomal dominant mutation with incomplete penetrance and variable expressivity rather than polygenic inheritance.

Entities:  

Mesh:

Year:  1999        PMID: 10526662

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  8 in total

1.  A cluster of hypoplastic left heart malformation in Baltimore, Maryland.

Authors:  K S Kuehl; C A Loffredo
Journal:  Pediatr Cardiol       Date:  2006 Jan-Feb       Impact factor: 1.655

2.  Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas, 1999-2001.

Authors:  Kim L McBride; Lisa Marengo; Mark Canfield; Peter Langlois; David Fixler; John W Belmont
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2005-08

3.  Aortic Coarctation Treated by PTA and Stenting: a Case Presentation and Literature Review.

Authors:  Angela Georgescu; Eustaquio Onorato; Silvia Nicolae; Serban Balnescu
Journal:  Maedica (Bucur)       Date:  2015-09

4.  Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.

Authors:  Kim L McBride; Gloria A Zender; Sara M Fitzgerald-Butt; Nikki J Seagraves; Susan D Fernbach; Gladys Zapata; Mark Lewin; Jeffrey A Towbin; John W Belmont
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2011-02-02

5.  Undiagnosed coarctation of the aorta as a cause of aortic dissection in the young.

Authors:  Sarah Saunders; Dean Harmse; Mary Sheppard
Journal:  BMJ Case Rep       Date:  2009-08-17

6.  Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.

Authors:  Kim L McBride; Ricardo Pignatelli; Mark Lewin; Trang Ho; Susan Fernbach; Andres Menesses; Wilbur Lam; Suzanne M Leal; Norman Kaplan; Paul Schliekelman; Jeffrey A Towbin; John W Belmont
Journal:  Am J Med Genet A       Date:  2005-04-15       Impact factor: 2.802

7.  Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases.

Authors:  Julia Moosmann; Steffen Uebe; Sven Dittrich; André Rüffer; Arif B Ekici; Okan Toka
Journal:  PLoS One       Date:  2015-05-18       Impact factor: 3.240

8.  Familial aortic coarctation: a rare cause of refractory hypertension in the elderly: a case report.

Authors:  Carmen M Lara-Rojas; M Rosa Bernal-Lopez; M Dolores Lopez-Carmona; Ricardo Gomez-Huelgas
Journal:  Medicine (Baltimore)       Date:  2015-01       Impact factor: 1.889

  8 in total

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