tetralogy of Fallot
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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:
- infundibular pulmonary stenosis
- right ventricular hypertrophy
- overriding aorta
- 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
Laboratory
- chromosome 22q11.2 deletion (15%), with inheritance of 50%
Diagnostic procedures
- electrocardiogram
- right bundle branch block
- increased QRS duration reflects degree of RV dilatation
- cardiac catheterization
Radiology
- chest X-ray
- cardiomegaly with pulmonary regurgitation or tricuspid regurgitation
- 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
More general terms
References
- ↑ Langman, Medical Embryology, Williams & Wilkins 1975
- ↑ 2.0 2.1 2.2 2.3 Medical Knowledge Self Assessment Program (MKSAP) 15, 16, 17, 18, 19. American College of Physicians, Philadelphia 2009, 2012, 2015, 2018, 2022.
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/18377431
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/24080109
- ↑ Downing TE, Kim YY. Tetralogy of Fallot: General Principles of Management. Cardiol Clin. 2015 Nov;33(4):531-41, vii-viii. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/26471818