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tetralogy of Fallot

Epidemiology: - most common cyanotic congenital heart defect - adults who have not undergone surgical repair are rare Pathology: unequal division of the conus due to anterior displacement of the truncoconal septum results in: 1) infundibular pulmonary stenosis 2) right ventricular hypertrophy 3) overriding aorta 4) ventricular septal defect Genetics: - associated with defects in ZFPM2 gene - associated with defects in NKX2-5 gene - associated with defects in JAG1 gene - associated with defects in GDF1 gene - associated with defects in GATA4 gene Clinical manifestations: 1) cyanosis 2) polycythemia 3) clubbing of fingers Laboratory: - chromosome 22q11.2 deletion (15%), with inheritance of 50% - screening recommended for all patients considering pregnancy [2] Special laboratory: - electrocardiogram - right bundle branch block - increased QRS duration reflects degree of RV dilatation - cardiac catheterization Radiology: - chest X-ray a) cardiomegaly with pulmonary regurgitation or tricuspid regurgitation b) right aortic arch (25%) Complications: - pulmonic valve regurgitation is the most common residual defect after surgical repair [2] - risk of atrial arrhythmias & ventrcular arrhythmias postsurgical repair - atrial fibrillation due to right ventricular hypertrophy & tricuspid regurgitation - QRS duration > 180 msec increases risk of ventricular tachycardia & sudden death - patients with congenital heart disease are at increased risk for endocarditis [2] Management: - surgical correction - pulmonary valve replacement for symptomatic pulmonic valve regurgitation after surgical repair (see Complications) [2] - severe pulmonary regurgitation - diminished exercise tolerance - severe right heart enlargement - mild to moderate right or left heart dysfunction - cardiac arrhythmia - tricuspid regurgitation - tricuspid valve repair for symptomatic tricuspid regurgitation after surgical repair

Interactions

disease interactions

General

congenital heart disease; congenital cyanotic heart disease valvular heart disease

Database Correlations

OMIM 187500

References

  1. Langman, Medical Embryology, Williams & Wilkins 1975
  2. Medical Knowledge Self Assessment Program (MKSAP) 15, 16, 17, 18, 19. American College of Physicians, Philadelphia 2009, 2012, 2015, 2018, 2022. - Medical Knowledge Self Assessment Program (MKSAP) 20 American College of Physicians, Philadelphia 2025
  3. Ammash NM, Dearani JA, Burkhart HM, Connolly HM. Pulmonary regurgitation after tetralogy of Fallot repair: clinical features, sequelae, and timing of pulmonary valve replacement. Congenit Heart Dis. 2007 Nov-Dec;2(6):386-403. PMID: 18377431
  4. Ferraz Cavalcanti PE, Sa MP, Santos CA et al Pulmonary valve replacement after operative repair of tetralogy of Fallot: meta-analysis and meta-regression of 3,118 patients from 48 studies. J Am Coll Cardiol. 2013 Dec 10;62(23):2227-43 PMID: 24080109
  5. Downing TE, Kim YY. Tetralogy of Fallot: General Principles of Management. Cardiol Clin. 2015 Nov;33(4):531-41, vii-viii. Review. PMID: 26471818