Related Experiment Video

Updated: Jul 14, 2026

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System
07:34

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System

Published on: May 5, 2018

Congenital heart defects--chromosomal anomalies, syndromes and extracardiac malformations

Alf Meberg1, Jardar Hals, Erik Thaulow

  • 1Department of Paediatrics, Vestfold Hospital, Tønsberg, Norway. alfmeb@start.no

Acta Paediatrica (Oslo, Norway : 1992)
|June 26, 2007
PubMed

Insights

Nearly a quarter of congenital heart defect (CHD) cases involve chromosomal anomalies or other malformations. Muscular ventricular septal defects (VSDs) showed fewer associated conditions. Increased trisomy prevalence in CHDs may link to maternal age. Keywords: congenital heart defects, chromosomal anomalies, malformations, ventricular septal defects, maternal age.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Congenital heart defects (CHDs) are common birth anomalies.
  • Associated chromosomal anomalies, genetic syndromes, and extracardiac malformations can impact CHD outcomes.
  • Understanding the prevalence and types of these associated conditions is crucial for diagnosis and management.

Purpose of the Study:

  • To document the occurrence of chromosomal anomalies, syndromes, and extracardiac malformations in patients diagnosed with congenital heart defects (CHDs).
  • To investigate the relationship between the location of ventricular septal defects (VSDs) and associated anomalies.
  • To analyze trends in the prevalence of CHDs with associated disorders over time and explore potential contributing factors.

Main Methods:

  • A population-based prospective observational study was conducted.
  • Data were collected on live births between 1982 and 2005.
  • Statistical analyses were performed to compare prevalence rates and identify significant associations.

Main Results:

  • Out of 57,027 live births, 662 (11.6 per 1000) had CHDs, with 146 (22%) exhibiting associated anomalies.
  • Chromosomal anomalies (excluding microdeletions) were present in 52 cases (36%), genetic syndromes/microdeletions in 26 (18%), and extracardiac malformations in 67 (46%).
  • Perimembranous VSDs had a significantly higher rate of associated anomalies (31%) compared to muscular VSDs (9%). The prevalence of CHDs with chromosomal trisomies increased from 1982-1993 to 1994-2005, correlating with an increase in maternal age at childbirth.

Conclusions:

  • Chromosomal anomalies, syndromes, and extracardiac malformations are found in approximately 22% of congenital heart defect cases.
  • Congenital heart defects associated with muscular VSDs demonstrate a lower incidence of these additional conditions.
  • The rising prevalence of CHDs with chromosomal trisomies is likely associated with the increasing average age of mothers giving birth.
Abstract

More Related Videos

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods08:28

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Published on: March 10, 2020

Implantation of Total Artificial Heart in Congenital Heart Disease07:27

Implantation of Total Artificial Heart in Congenital Heart Disease

Published on: July 18, 2014

Related Concept Videos

Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.