Familial recurrence of congenital heart disease: An overview and review of the literature

Giulio Calcagni, M. Cristina Digilio, Anna Sarkozy, Bruno Dallapiccola, Bruno Marino

Research output: Contribution to journalArticlepeer-review

Abstract

Familial recurrence is one of the classic patterns for the clinical presentation of congenital heart disease (CHD). In recent years, many groups studied empiric recurrence risk in these heart defects, and the aim of this review was to analyse the patterns of inheritance detected in different types of CHD, including atrioventricular canal defect, tetralogy of Fallot, transposition of the great arteries, left-sided obstructions and atrial septal defect. These studies may influence clinical practise guidelines through accurate genetic counselling, but also, they may have important implications in the knowledge of genetic and pathogenetic mechanisms of CHD.

Original languageEnglish
Pages (from-to)111-116
Number of pages6
JournalEuropean Journal of Pediatrics
Volume166
Issue number2
DOIs
Publication statusPublished - Feb 2007

Keywords

  • Familial recurrence of congenital heart disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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