Related Experiment Video

Updated: Jan 23, 2026

Implantation of Total Artificial Heart in Congenital Heart Disease
07:27

Implantation of Total Artificial Heart in Congenital Heart Disease

Published on: July 18, 2014

25.1K

Three year experience of a clinical cardiovascular genetics program for infants with congenital heart disease

Gabrielle C Geddes1,2, Erin Syverson1,2, Michael G Earing1,2

  • 1Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.

Congenital Heart Disease
|June 22, 2019
PubMed

Insights

An inpatient cardiogenetics program improves diagnosis rates for infants with congenital heart disease (CHD). This program enhances genetic testing efficiency and identifies more complex genetic conditions, improving patient care.

Area of Science:

  • Cardiology
  • Medical Genetics
  • Pediatric Surgery

Background:

  • Congenital heart disease (CHD) is a significant cause of infant mortality and morbidity.
  • Early diagnosis and management of genetic conditions associated with CHD are crucial for improving outcomes.
  • The integration of medical genetics into pediatric cardiac care is evolving.

Purpose of the Study:

  • To evaluate the initial 3-year experience of an inpatient cardiogenetics program.
  • To assess the impact of the program on genetic testing utilization and diagnostic yield in infants with major CHD.
  • To compare outcomes with historical baseline and genetic testing protocol periods.

Main Methods:

  • Infants under one year requiring surgical intervention for CHD at a specialized heart institute were included.
  • Major trisomies (13, 18, 21) were excluded from the study cohort.
  • Genetic testing utilization, diagnostic rates, and the occurrence of dual or incidental diagnoses were analyzed.

Main Results:

  • The program evaluated 201 infants with CHD over 3 years.
  • The overall diagnostic rate increased significantly to 33% compared to a baseline of 15%.
  • The rate of incidental diagnoses altering patient care increased, and the number of tests per patient decreased.

Conclusions:

  • Inpatient cardiogenetics programs significantly enhance diagnostic rates for infants with CHD.
  • These programs improve the identification of complex phenotypes, dual diagnoses, and incidental genetic findings.
  • Increased involvement of medical geneticists in pediatric cardiac care is recommended to optimize patient management and genetic testing.
Abstract

Keywords:
cardiovascular geneticscongenital heart diseasegenetic testing

More Related Videos

In Silico Clinical Trials for Cardiovascular Disease09:09

In Silico Clinical Trials for Cardiovascular Disease

Published on: May 27, 2022

2.2K
Dissection Techniques and Histological Sampling of the Heart in Large Animal Models for Cardiovascular Diseases10:53

Dissection Techniques and Histological Sampling of the Heart in Large Animal Models for Cardiovascular Diseases

Published on: June 16, 2022

9.5K

Related Concept Videos

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...
527
Psychoneuroimmunology: Cardiovascular Disease01:27

Psychoneuroimmunology: Cardiovascular Disease

Psychoneuroimmunology (PNI) is a multidisciplinary field that examines how psychological factors, particularly stress, interact with the immune system and impact physical health. Research in PNI has shown that chronic or traumatic stress can disrupt both the hypothalamic-pituitary-adrenal axis and the sympathetic nervous system. These disruptions contribute to serious health conditions, including cardiovascular diseases.
A key area of focus in PNI is the relationship between stress and coronary...
429
Heart Failure III: Clinical Manifestations01:26

Heart Failure III: Clinical Manifestations

Heart failure (HF) manifests primarily as dyspnea, fatigue, and fluid retention, resulting in peripheral and pulmonary edema. Symptoms may vary depending on which ventricle is more affected, left or right.Left-Sided Heart FailureAlso known as left ventricular failure, this condition results from the left ventricle's inability to fill or eject sufficient blood into the systemic circulation. It leads to pulmonary congestion, which occurs when the left ventricle fails to eject blood effectively...
535
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
467
Ischemic Heart Disease: Overview01:17

Ischemic Heart Disease: Overview

Ischemic heart disease occurs when the heart's blood supply dwindles, causing an ominous lack of oxygen and nutrients. This deficiency, stemming from reduced or obstructed blood flow, spells danger, leading to heart muscle damage and dysfunction.
Atherosclerosis, the primary malefactor, orchestrates this dangerous condition. It manifests as the accumulation of fatty deposits, akin to insidious plaques, within arterial walls. As time elapses, these plaques metamorphose, hardening and...
3.0K
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
590