What are the different types of congenital and acquired heart defects?

Comprehensive List of Congenital and Acquired Heart Defects

Heart defects can be classified into congenital (present at birth) and acquired (developing after birth) categories, with congenital heart defects further classified by anatomical complexity as simple, moderate, or complex according to the American College of Cardiology/American Heart Association guidelines. 1, 2

Congenital Heart Defects

Simple Defects (Class I)

• Isolated small atrial septal defect (ASD)
• Isolated small ventricular septal defect (VSD)
• Mild isolated pulmonic stenosis
• Previously ligated or occluded ductus arteriosus
• Repaired secundum ASD or sinus venosus defect without significant residual shunt
• Repaired VSD without significant residual shunt

Moderate Complexity Defects (Class II)

• Aorto-left ventricular fistula
• Anomalous pulmonary venous connection (partial or total)
• Anomalous coronary artery arising from the pulmonary artery
• Anomalous aortic origin of a coronary artery from the opposite sinus
• Atrioventricular septal defect (AVSD) (partial or complete, including primum ASD)
• Congenital aortic valve disease
• Congenital mitral valve disease
• Coarctation of the aorta
• Ebstein anomaly (spectrum includes mild, moderate, and severe variations)
• Infundibular right ventricular outflow obstruction
• Ostium primum ASD
• Moderate and large unrepaired secundum ASD
• Moderate and large patent ductus arteriosus
• Pulmonary valve regurgitation (moderate or greater)
• Pulmonary valve stenosis (moderate or greater)
• Peripheral pulmonary stenosis
• Sinus of Valsalva fistula/aneurysm
• Sinus venosus defect
• Subvalvar aortic stenosis
• Supravalvar aortic stenosis
• Straddling atrioventricular valve
• Repaired tetralogy of Fallot
• VSD with associated abnormality and/or moderate or greater shunt

Great Complexity Defects (Class III)

• Cyanotic congenital heart defects (unrepaired or palliated, all forms)
• Double-outlet ventricle
• Fontan procedure
• Interrupted aortic arch
• Mitral atresia
• Single ventricle conditions (including):
  • Double inlet left ventricle
  • Tricuspid atresia
  • Hypoplastic left heart syndrome
  • Other anatomic abnormalities with functionally single ventricle
• Pulmonary atresia (all forms)
• Transposition of the great arteries (TGA):
  • Classic or d-TGA (dextro-transposition)
  • Congenitally corrected TGA (l-TGA)
• Truncus arteriosus
• Other abnormalities of atrioventricular and ventriculoarterial connection:
  • Crisscross heart
  • Isomerism
  • Heterotaxy syndromes
  • Ventricular inversion

Acquired Heart Defects

Valvular Heart Disease

• Aortic stenosis
• Aortic regurgitation
• Mitral stenosis
• Mitral regurgitation
• Tricuspid stenosis
• Tricuspid regurgitation
• Pulmonary valve stenosis
• Pulmonary valve regurgitation

Ischemic Heart Disease Complications

• Post-infarction ventricular septal defect
• Papillary muscle rupture
• Left ventricular aneurysm
• Left ventricular pseudoaneurysm

Cardiomyopathies

• Dilated cardiomyopathy
• Hypertrophic cardiomyopathy
• Restrictive cardiomyopathy
• Arrhythmogenic right ventricular cardiomyopathy
• Takotsubo cardiomyopathy

Pericardial Disease

• Pericardial effusion
• Constrictive pericarditis
• Cardiac tamponade

Aortic Disease

• Aortic aneurysm
• Aortic dissection

Infectious/Inflammatory Conditions

• Infective endocarditis
• Rheumatic heart disease
• Myocarditis
• Pericarditis

Epidemiology and Clinical Significance

Congenital heart disease occurs in approximately 0.4% to 1% of live births in the United States, with an overall prevalence estimated at 81.4 per 10,000 births 2. The most common congenital heart defects include:

• Muscular ventricular septal defect (27.5 per 10,000 births)
• Perimembranous ventricular septal defect (10.6 per 10,000 births)
• Secundum atrial septal defect (10.3 per 10,000 births)
• Tetralogy of Fallot (4.7 per 10,000 births)

Congenital heart disease is the most frequent birth defect and the leading cause of death for the fetus and in the first year of life 3. With advances in surgical techniques and medical management, there are now more adults living with congenital heart disease than children, including those with complex lesions 4.

Risk Factors and Associations

Several factors increase the risk of congenital heart defects:

• Genetic or chromosomal abnormalities (e.g., Down syndrome)
• Family history of congenital heart defects
• Maternal factors during pregnancy:
  • Excessive alcohol consumption
  • Certain medications
  • Viral infections (e.g., Rubella) in the first trimester 5

Approximately 30% of children with congenital heart defects have associated genetic syndromes or additional extracardiac anomalies, which may increase the risk of complications during cardiac surgery 6.

Management Considerations

Management of heart defects depends on the type, severity, and associated conditions:

• Simple defects may require monitoring or minimally invasive interventions
• Moderate to complex defects often require surgical repair or palliation
• Percutaneous closure is now considered first-line therapy for certain defects like ostium secundum ASDs and muscular VSDs 7
• Adults with CHD require close monitoring and proactive management to prevent complications related to their underlying anatomy and past surgical interventions 4

For tetralogy of Fallot, the most common complex defect with the longest surgical history, long-term survival after complete repair is 86% at 32 years, though the risk of sudden cardiac death increases over time 2.