Arrhythmogenic Right Ventricular Cardiomyopathy

Arrythmogenic Right Ventricular Dysplasia (ARVD)

Epidemiology and Etiology:

· Sporadic mostly

· Some familial

· Gene defect on chromosome 14

· Pathogenesis obscure

· Autosomal dominant

· Variable penetrance

· Naxos syndrome

· Plakoglobin (gamma-catenin) mutation

· Intracellular protein links transmembrane adhesion molecules in desmosomes to desmin

· Desmin is the principal intermediate filament protein in cardiac myocytes

Common sites:

· Right ventricle

· Left ventricle maybe

· Naxos syndrome

· Plantar palmar skin surfaces

Gross features:

· RV wall severely thinned due to loss of myocytes

· Extensive fatty infiltration

· Interstitial fibrosis

Histologic features:

· Extensive fatty infiltration

· Interstitial fibrosis

·

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

·

Other features:

· Clinical:

· Right-sided heart failure

· Rhythm disturbances

· V-tach particularly

· Sudden death

References:

· Kumar V, Fausto N, Abbas A. Robbins & Cotran Pathologic Basis of Disease, Seventh Edition. 7th ed. Saunders; 2004.