Related Experiment Video

Updated: Jul 20, 2025

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
08:28

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

Published on: March 10, 2020

6.9K

Congenital Heart Defects and Outcome in a Large Cohort of Down Syndrome: A Single-Center Experience from Turkey

Dilek Uludağ Alkaya1, Birol Öztürk2, Aylin Yüksel Ülker1

  • 1Department of Pediatric Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Turkey.

Turkish Archives of Pediatrics
|August 3, 2023
PubMed

Insights

Congenital heart defects (CHDs) affect over half of Down syndrome patients, with ventricular septal defect being most common. Survival rates vary by defect severity, highlighting the need for specialized care.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Congenital heart defects (CHDs) are prevalent in Down syndrome, significantly impacting patient morbidity and mortality.
  • Understanding the specific types and outcomes of CHDs in this population is crucial for effective management.

Purpose of the Study:

  • To determine the prevalence, classification, and survival rates of congenital heart defects in individuals with Down syndrome.
  • To identify prognostic factors influencing outcomes in Down syndrome patients with CHDs.

Main Methods:

  • A retrospective analysis of 1731 Down syndrome patients who underwent echocardiography between 1986 and 2022.
  • Classification of CHDs into cyanotic and acyanotic groups, with a median follow-up of 8.7 years.

Main Results:

  • Over half (52.1%) of Down syndrome patients had CHDs, more common in females.
  • Ventricular septal defect (35%) was the most frequent CHD, followed by atrial septal defect (31.8%) and atrioventricular septal defect (23.4%).
  • Five-year survival rates were 97.4% (no CHD), 95.6% (mild CHD), and 86.1% (moderate to severe CHD).

Conclusions:

  • Congenital heart defects are highly prevalent in Down syndrome, with VSD being the most common type.
  • Survival is significantly impacted by the severity of the congenital heart defect.
  • This large single-center study provides valuable insights into CHD classification, prognosis, and survival in Down syndrome patients.
Abstract

More Related Videos

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System07:34

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

Published on: May 5, 2018

11.7K
Implantation of Total Artificial Heart in Congenital Heart Disease07:27

Implantation of Total Artificial Heart in Congenital Heart Disease

Published on: July 18, 2014

24.7K

Related Concept Videos

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...
16
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...
2.5K
Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
193.8K
Meiosis vs. Mitosis02:57

Meiosis vs. Mitosis

Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
57.1K
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
38
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
11