Review

European Journal of Pediatrics

, Volume 166, Issue 2, pp 111-116

First online:

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

  • Giulio CalcagniAffiliated withPediatric Cardiology, Department of Pediatrics, University La Sapienza
  • , M. Cristina DigilioAffiliated withDivision of Medical Genetics, Bambino Gesù Hospital
  • , Anna SarkozyAffiliated withDepartment of Experimental Medicine and Pathology, University La Sapienza and CSS-Mendel Institute
  • , Bruno DallapiccolaAffiliated withDepartment of Experimental Medicine and Pathology, University La Sapienza and CSS-Mendel Institute
  • , Bruno MarinoAffiliated withPediatric Cardiology, Department of Pediatrics, University La SapienzaPediatric Cardiology, University “La Sapienza” Email author 

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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