Genetics of conotruncal malformations: Review of the literature and report of a consanguineous kindred with various conotruncal malformations

✍ Scribed by Rein, Azaria J. J. T. ;Dollberg, Shaul ;Gale, Rena

• Book ID: 101441250
• Publisher: John Wiley and Sons
• Year: 1990
• Tongue: English
• Weight: 275 KB
• Volume: 36
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320360322

✦ Synopsis

Genetic predisposition in congenital heart

disease is considered to be a component of multifactorial inheritance. Recently, monogenic inheritance in conotruncal malformations has been suggested. We describe a consanguineous kindred with various conotruncal malformations, the presence of which lends support to the idea that this spectrum of malformation is monogenically inherited.

Theoretical background and experimental and clinical data are reviewed and discussed.