Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study

Abstract

Objective-To analyse the spectrum of congenital heart malformations, the frequency of extracardiac malformations, and the proportion of chromosome aberrations among fetuses sent for necropsy. Material-Necropsies were performed on 815 fetuses-448 induced abortions (55%), 220 spontaneous abortions (27%), and 147 stillbirths (18%)-during a seven year period (1991-97) in the department of pathology of the Charité Medical Centre in Berlin. A congenital heart defect was identified in 129 cases (16%). For all 129 fetuses, karyotyping and an ultrasound examination had been performed. Results-Congenital heart defects were present in 22% of induced abortions (99 cases), 9% of spontaneous abortions (20 cases), and 7% of stillbirths (10 cases). The heart malformations were classified into 13 categories. A fetus with more than one defect was included only in the category of the most serious defect. The malformations in order of frequency were: ventricular septal defect (VSD) (28%), atrioventricular septal defect (AVSD) (16%), hypoplastic left heart (HLH) (16%), double outlet right ventricle (DORV) (12%), coarctation of the aorta (CoA) (6%), transposition of the great arteries (TGA) (4%), aortic valve stenosis (AoVS) (4%), tetralogy of Fallot (TOF) (3%), truncus arteriosus communis (TAC) (3%), pulmonary valve stenosis/ pulmonary valve atresia (PaVS/PaVA) (3%), tricuspid atresia (TA) (3%), single ventricle (SV) (1.5%), and atrial septal defect (ASD) (0.5%). The most common congenital heart defects were VSD, AVSD, HLH, and DORV, which made up 72% of all the cases. In 11 cases the heart defect was isolated (no other cardiovascular or extracardiac malformations present), 85 cases (66%) were associated with additional cardiac malformations, 85 cases (66%) were associated with extracardiac malformations, and chromosome anomalies were detected in 43 cases (33%). Conclusions-Fetal congenital heart malformations are common. These defects are often associated with other cardiovascular and extracardiac malformations, as well as with chromosome anomalies. Complex heart defects such as AVSD, HLH, and DORV are frequent in fetuses, as they often lead to spontaneous abortion or stillbirth or, after prenatal diagnosis, to deliberate termination of pregnancy. (Heart 1999;82:34-39)

Presentation of congenital heart disease diagnosed at birth: analysis of 29,770 newborn infants

“…Isso é descrito na literatura [26][27][28] e chama atenção para a necessidade de levar em conta o momento do diagnóstico para avaliar a prevalência das diversas apresentações clínicas e sua etiologia.…”

“…Entre os NM, a trissomia do cromos- Os defeitos anatômicos mais freqüentemente encontrados tanto entre RNV quanto entre NM foram CIA, CIV e PCA, em concordância com a literatura 12,21,23,[26][27][28] .…”

A66G and C524T polymorphisms of the methionine synthase reductase gene are associated with congenital heart defects in the Chinese Han population

“…However, the pathogenesis of CHDs is not fully understood. Population studies have suggested that CHDs are associated with a genetic syndrome (e.g., Down syndrome) or they can be of multifactorial origin, involving genetic and environmental factors (Tennstedt et al, 1999;Botto and Correa, 2003).…”

Prevalence of extracardiac malformations associated with congenital heart disease

“…The prevalence of minor ECM in children with CHD, was found to be 41.9% by Kramer et al 14 Occurrence of more than 3 minor anomalies has been associated with a major anomaly in 90% of the individuals. In the present study, minor ECM was found in 28% of the study group.…”