Congenital Heart Disease in Adults



  • Congenital defects involve the walls of the heart, its valves, arteries, and/or veins potentially or actually resulting in hemodynamic effects.
  • ~40 different types
  • Stratification: cyanotic or acyanotic versus complex, moderate, and simple
  • The number of patients surviving into adulthood has increased with early detection, improved imaging modalities, new medications, surgical intervention methods, and management of comorbid conditions.
  • Systems affected: cardiovascular, pulmonary, renal, hepatic, hematologic, integumentary



  • 1% of births each year in the United States (1)
  • ~40,000 live births each year (1:4 severe) (2)
  • Most common cyanotic: tetralogy of Fallot
  • Most common: bicuspid aortic valve (BAV): 1–2% of general population (2)
  • ACHD other than BAV: atrial septal defect (ASD) 30–40% and solitary ventricular septal defect (VSD) 15–20% (2)


  • AHA: 1.3 million people alive in 2015 have a congenital heart defect (3).
  • Mild: 45%, moderate: 37%, severe: 14% (2)

Etiology and Pathophysiology

  • Most are unknown; multifactorial
  • ACHDs are a myriad of anatomical malformations of the cardiovascular system during fetal development that lead to physiologic and anatomic dysfunction.
  • Causes: persistent or absent pharyngeal arch artery derivatives, aberrant heart tube fusion, endocardial cushion formation, muscular and membranous septal migration and changes, and neural crest cell induction of differentiation
  • Left to right versus right to left shunting

Associated congenital syndromes: Down, 22q11.2 deletions (i.e., DiGeorge, velocardiofacial, conotruncal anomaly face), Williams-Beuren, Turners, Holt-Oram, Noonan, Alagille, Marfan, Ehlers-Danlos, Osler-Weber-Rendu, Jervell and Lange-Nielsen, Romano-Ward, VACTERL, osteogenesis imperfecta, familial ASD

Risk Factors

Family history, consanguinity, prenatal exposure to obesity, smoking, EtOH, thalidomide, ACEI/ARBs

General Prevention

  • Genetic counseling/testing prior to conception for patients with known ACHD
  • Prevention of gestational diabetes; controlling maternal SLE; maternal rubella immunization; avoid exposures to EtOH, amiodarone, thalidomide, and other category X medications.
  • Most cases are de novo with cause unknown.

Commonly Associated Conditions

  • Systolic and diastolic congestive heart failure (CHF)
  • Wolff-Parkinson-White (WPW) syndrome
    • Atrial enlargement/scar → atrial fibrillation and atrial flutter
  • SA node dysfunction, especially if prior surgical correction/palliation was attempted
  • IART
  • Cyanotic CHD: hypoxemia, hyperviscosity syndrome, and erythrocytosis
  • Protein-losing enteropathy
  • Renal failure and chronic kidney disease (CKD): gout, anemia, and hyperuricemia
  • Gallstones due to increased Ca++ bilirubinate
  • Stroke/brain abscess: microcytosis and paradoxical cerebral emboli
  • Pulmonary arterial hypertension (PAH)—Eisenmenger syndrome (ES) (intracardiac communication with pulmonary hypertension, reversal of flow [right to left], and cyanosis)
  • Scoliosis/kyphosis from prior surgeries

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