Learn About Congenital Heart Disease (CHD)

What is the definition of Congenital Heart Disease (CHD)?

Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth.

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What are the causes of Congenital Heart Disease (CHD)?

CHD can describe a number of different problems affecting the heart. It is the most common type of birth defect. CHD causes more deaths in the first year of life than any other birth defects.

CHD is often divided into two types: cyanotic (blue skin color caused by a lack of oxygen) and non-cyanotic. The following lists cover the most common CHDs:

Cyanotic:

  • Ebstein anomaly
  • Hypoplastic left heart
  • Pulmonary atresia
  • Tetralogy of Fallot
  • Total anomalous pulmonary venous return
  • Transposition of the great vessels
  • Tricuspid atresia
  • Truncus arteriosus

Non-cyanotic:

  • Aortic stenosis
  • Bicuspid aortic valve
  • Atrial septal defect (ASD)
  • Atrioventricular canal (endocardial cushion defect)
  • Coarctation of the aorta
  • Patent ductus arteriosus (PDA)
  • Pulmonic stenosis
  • Ventricular septal defect (VSD)

These problems may occur alone or together. Most children with CHD do not have other types of birth defects. However, heart defects may be part of genetic and chromosomal syndromes. Some of these syndromes may be passed down through families.

Examples include:

  • DiGeorge syndrome
  • Down syndrome
  • Marfan syndrome
  • Noonan syndrome
  • Edwards syndrome
  • Trisomy 13
  • Turner syndrome

Often, no cause for the heart disease can be found. CHDs continue to be investigated and researched. Drugs such as retinoic acid for acne, chemicals, alcohol, and infections (such as rubella) during pregnancy can contribute to some congenital heart problems.

Poorly controlled blood sugar in women who have diabetes during pregnancy has also been linked to a high rate of congenital heart defects.

What are the symptoms of Congenital Heart Disease (CHD)?

Symptoms depend on the condition. Although CHD is present at birth, the symptoms may not appear right away.

Defects such as coarctation of the aorta may not cause problems for years. Other problems, such as a small VSD, ASD, or PDA may never cause any problems.

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What are the current treatments for Congenital Heart Disease (CHD)?

Which treatment is used, and how well the baby responds to it, depends on the condition. Many defects need to be followed carefully. Some will heal over time, while others will need to be treated.

Some CHDs can be treated with medicine alone. Others need to be treated with one or more heart procedures or surgeries.

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How do I prevent Congenital Heart Disease (CHD)?

Women who are pregnant should get good prenatal care:

  • Avoid alcohol and illegal drugs during pregnancy.
  • Tell your health care provider that you are pregnant before taking any new medicines.
  • Have a blood test early in your pregnancy to see if you are immune to rubella. If you are not immune, avoid any possible exposure to rubella and get vaccinated right after delivery.
  • Pregnant women who have diabetes should try to get good control over their blood sugar level.

Certain genes may play a role in CHD. Many family members may be affected. Talk to your provider about genetic counseling and screening if you have a family history of CHD.

Heart - section through the middle
Heart - front view
Ultrasound, normal fetus - heartbeat
Ultrasound, ventricular septal defect - heartbeat
Patent ductus arteriosis (PDA) - series - Infant heart anatomy
What are the latest Congenital Heart Disease (CHD) Clinical Trials?
Effectiveness of Kardia Mobile for Detecting Arrhythmias in Children With Symptoms: A Randomized Clinical Trial

Summary: The objective of this project is to evaluate the Kardia Mobile capability of detecting arrhythmic events in children with history of palpitation and or syncope. We will compare this approach with the standard approach of clinical follow-up plus 24-hour Holter ECG monitoring in terms of acceptability and ability to identify significant arrhythmias.

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Randomized Controlled, Multi-centre Trial of Cardiac Magnetic Resonance Guidance of Implantable Cardioverter Defibrillator Implantation in Non-ischemic Dilated Cardiomyopathy

Summary: Patients with diagnostic CMR images for assessment of LGE/fibrosis and evidence/presence of non-ischaemic myocardial fibrosis/scar will be randomized to the following treatment groups in a 1:1 ratio: ICD group or Optimal HF care group.

What are the Latest Advances for Congenital Heart Disease (CHD)?
Emergent Operation for Total Anomalous Pulmonary Venous Return.
Catheter Ablation for Atrial Fibrillation in Adult Congenital Heart Disease: An International Multicenter Registry Study.
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Hypoplastic Left Heart Syndrome Palliation: Technical Aspects and Common Pitfalls of the Hybrid Approach.
Who are the sources who wrote this article ?

Published Date: October 10, 2021
Published By: Michael A. Chen, MD, PhD, Associate Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Valente AM, Dorfman AL, Babu-Narayan SV, Kreiger EV. Congenital heart disease in the adolescent and adult. In: Libby P, Bonow RO, Mann DL, Tomaselli GF, Bhatt DL, Solomon SD, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 12th ed. Philadelphia, PA: Elsevier; 2022:chap 82.

Well A, Fraser CD. Congenital heart disease. In: Townsend CM Jr, Beauchamp RD, Evers BM, Mattox KL, eds. Sabiston Textbook of Surgery: The Biological Basis of Modern Surgical Practice. 21st ed. Philadelphia, PA: Elsevier; 2022:chap 59.