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Congenital heart disease
Other Resources UpToDate PubMed

Congenital heart disease

Contributors: Ryan Hoefen MD, PhD
Other Resources UpToDate PubMed


Structural cardiac malformations present at birth, which include atrial or ventricular septal defects, tetralogy of Fallot, transposition of the great arteries, and valvular abnormalities. Clinical presentations vary but often include cyanosis, arrhythmia, and heart failure. While the diagnosis may be apparent at birth or during early childhood, it may also be asymptomatic and undetected until the adult years, as is often the case with atrial septal defects and bicuspid aortic valves.


Q24.9 – Congenital malformation of heart, unspecified

13213009 – Congenital Heart Disease

Differential Diagnosis & Pitfalls

  • Bicuspid aortic valve
  • Mitral regurgitation
  • Ventricular septal defect
  • Senile calcific Aortic stenosis
  • Hypertrophic cardiomyopathy
  • Subaortic membrane
  • Supravalvular Aortic stenosis
  • Coarctation of the aorta
  • Atrial septal defect
  • Patent ductus arteriosus
  • Tetralogy of Fallot
  • Tricuspid atresia
  • Tricuspid valve stenosis
  • Pulmonic valve atresia
  • Pulmonic stenosis
  • Aortic stenosis
  • Tricuspid regurgitation
  • Ebstein anomaly
  • Hypoplastic left heart
  • Anomalous pulmonary venous return
  • Transposition of great vessels
  • Truncus arteriosus
  • Atrioventricular canal
  • Down syndrome
  • Marfan syndrome
  • Noonan syndrome
  • DiGeorge syndrome
  • Turner syndrome
  • Trisomy 13 syndrome

Best Tests

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Last Updated:06/15/2022
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Congenital heart disease
A medical illustration showing key findings of Congenital heart disease : Fatigue, Cyanosis, Edema, Nail clubbing, Dyspnea
Copyright © 2024 VisualDx®. All rights reserved.