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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 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.
  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