Update on counseling the family with a first‐degree relative with a congenital heart defect

Abstract

Updated recurrence risks figures are presented for genetic counseling of families with a congenital heart defect (CHD) in a first-degree relative. Substantial changes are recommended for counseling the family in which a parent has CHD. The risk is much greater if it is the mother rather than the father who has the heart defect. The updated figures for recurrence risks in sibs have been revised, but are not greatly changed. Our central tenet in counseling is to base risk projections on the genetic and teratogenic history in the individual family and pregnancy.

Genetics and Genetic Testing in Congenital Heart Disease

“…To maximize readability, output was restricted to 20 related genes. Cardiac mesoderm induction Cardiac progenitor specification SHF / OFT development Abbreviations: A-P = anterior-posterior, AV = atrioventricular, BMP = bone morphogenetic protein, EC = endocardial cushion, EGF = epidermal growth factor, ERK = extracellular signal-regulated kinase, FGF = fibroblast growth factor, L-R = left-right, MAPK = mitogen-activated protein kinase, NCC = neural crest cell, OFT = outflow tract, RA = retinoic acid, SHF = second heart field, TGF-β = transforming growth factor-beta, VEGF = vascular endothelial growth factor, Wnt = wingless type [52][53][54] except where otherwise noted. NR = not reported/insufficient data Merged cells indicate recurrence when one parent is affected, irrespective of gender, and are used in the absence of gender-stratified risks.…”

“…Long-standing CHD models consider a large subset of CHDs to be multifactorial in origin, resulting from combined interaction of a number of distinct environmental and genetic factors 51 . Several large-scale epidemiological studies have examined rates of recurrence among first degree relatives of patients with isolated CHDs and collectively suggest an overall risk of 5-10% for any CHD when either one parent or more than two siblings are affected [52][53][54] . This figure reduces to ~3% with a single affected child.…”

Pregnancy and heart disease: what Internists should know

“…In case of CHD arising the novo, the possibility of having a baby affected by CHD is around 3-4%. This percentage augments up to 10% if more than one sibling is ill. 49 Bicuspid…”

Cardiac disease in pregnancy and consequences for reproductive outcomes, comorbidity and survival

“…The recurrence rates vary from 2-20% depending on the lesion 15,[23][24][25] . The risk is higher if the mother is affected rather than the father [24][25][26] .…”

“…We also found no increased risks of malformation in children of men with CHD. Prior studies have shown an increased risk of CHD of approximately 2-4% in the offspring 24 . However, these studies are based on a small series of specific heart malformations.…”