European Journal of Pediatrics

, Volume 166, Issue 2, pp 111–116

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

  • Giulio Calcagni
  • M. Cristina Digilio
  • Anna Sarkozy
  • Bruno Dallapiccola
  • Bruno Marino
Review
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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.

Keywords

Familial recurrence of congenital heart disease 

Abbreviations

CHD

Congenital heart disease

AVCD

Atrioventricular canal defect

TOF

Tetralogy of Fallot

TGA

Transposition of the great arteries

CCTGA

Congenitally correct transposition of the great arteries

ASD

Atrial septal defect

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Giulio Calcagni
    • 1
  • M. Cristina Digilio
    • 2
  • Anna Sarkozy
    • 3
  • Bruno Dallapiccola
    • 3
  • Bruno Marino
    • 1
    • 4
  1. 1.Pediatric Cardiology, Department of PediatricsUniversity La SapienzaRomeItaly
  2. 2.Division of Medical GeneticsBambino Gesù HospitalRomeItaly
  3. 3.Department of Experimental Medicine and PathologyUniversity La Sapienza and CSS-Mendel InstituteRomeItaly
  4. 4.Pediatric CardiologyUniversity “La Sapienza”RomeItaly

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