Congenital Heart Disease in Adults
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- 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)
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
Family history, consanguinity, prenatal exposure to obesity, smoking, EtOH, thalidomide, ACEI/ARBs
- 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
- Wolf-Parkinson-White (WPW) syndrome
- Atrial enlargement/scar → atrial fibrillation and atrial flutter
- SA node dysfunction, especially if prior surgical correction/palliation was attempted
- Cyanotic CHD: hypoxemia, hyperviscosity syndrome, and erythrocytosis
- Protein-losing enteropathy
- Renal failure and 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