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familial arrhythmogenic right ventricular dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVD, ARVC, ARVD/C, ARVC/D)

Epidemiology: - accounts for a significant % of sudden cardiac death in young people, including athletes [2] Pathology: - dilation of the right ventricle - partial degeneration of the myocardium of the right ventricle - replacement of ventricular myocardium with fatty & fibrous elements - preferentially involves the right ventricular free wall Genetics: - autosomal dominant - family history of sudden cardiac death - associated with defects in TGFB3 (type 1) - associated with defects in RYR2 (type 2) Clinical manifestations: - arrhythmias - ventricular tachycardia - syncope Special laboratory: - electrocardiogram* - electrical instability - T-wave inversion V1-V3 - frequent PVCs - abnormal signal-averaged ECG* - HOLTER* - monomorphic ventricular tachycardia - ventricular tachycarydia with left bundle branch morphology suggests arrhythmogenic origin is from the right ventricle - echocardiogram* - right ventricular systolic dysfunction - abnormal right ventricular size & function - electrophysiology study - right ventricular biopsy - fibrofatty replacement of right ventricular myocardium * these tests collectively with best yield [2] Radiology: - angiography* (defining criteria) - magnetic resonance imaging has been used * one of the tests collectively with best yield [2] Complications: - sudden death Management: - beta-blocker - other antiarrhymiv agents, sotalol, amiodarone - syncope is an indication for an ICD - abstinence from exercise

Interactions

disease interactions

Specific

arrhythmogenic right ventricular cardiomyopathy type 10; familial arrhythmogenic right ventricular dysplasia type 10 (ARVC10, ARVD10) arrhythmogenic right ventricular cardiomyopathy type 11; familial arrhythmogenic right ventricular dysplasia type 11 (ARVC11, ARVD11) arrhythmogenic right ventricular cardiomyopathy type 12; familial arrhythmogenic right ventricular dysplasia type 12 (ARVC12, ARVD12) arrhythmogenic right ventricular cardiomyopathy type 9; familial arrhythmogenic right ventricular dysplasia type 9 (ARVC9, ARVD9) familial arrhythmogenic right ventricular dysplasia 8 (ARVD8)

General

congenital heart disease; congenital cyanotic heart disease genetic disease of the heart

Database Correlations

OMIM 107970

References

  1. UniProt :accession Q92736
  2. Marcus FI et al Arrhythmogenic right ventricular cardiomyopathy/dysplasia clinical presentation and diagnostic evaluation: Results from the North American Multidisciplinary Study. Heart Rhythm 2009 Jul; 6:984. PMID: 19560088
  3. Medical Knowledge Self Assessment Program (MKSAP) 16 American College of Physicians, Philadelphia 2012
  4. Basso C, Corrado D, Marcus FI, Nava A, Thiene G. Arrhythmogenic right ventricular cardiomyopathy. Lancet. 2009 Apr 11;373(9671):1289-300. PMID: 19362677