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Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2
Author(s) -
Digilio M. Cristina,
Marino Bruno,
Capolino Rossella,
Angioni Adriano,
Sarkozy Anna,
Roberti M. Cristina,
Conti Emanuela,
de Zorzi Andrea,
Dallapiccola Bruno
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30587
Subject(s) - proband , pedigree chart , digeorge syndrome , first degree relatives , medicine , genetics , family history , pediatrics , mutation , gene , biology
The majority of nonsyndromic congenital heart defects (CHDs) are considered to follow a multifactorial model of inheritance. Multiple family members affected by CHD can occasionally be detected, and the involvement of several genetic loci interacting with environmental factors is suspected to be implicated. The DiGeorge/velo‐cardio‐facial syndrome related to microdeletion 22q11.2 (del22) is a genetic condition associated with CHD in most of the cases. We report here on five pedigrees of patients with del22, showing occurrence of nonsyndromic CHD in a first‐degree relative of the proband case. Familial aggregation of syndromic and nonsyndromic CHD as observed in our series is to be considered as an unusual pattern of recurrence. The interaction between several different genes and environmental factors, a familial susceptibility predisposing to a specific cardiac malformation, or chance association can all be hypothesized searching an explanation for these particular observations. © 2005 Wiley‐Liss, Inc.