[Arrhythmogenic right ventricular dysplasia. Report of a familial case]

Minerva Cardioangiol. 1995 May;43(5):231-5.
[Article in Italian]

Abstract

Arrhythmogenic right ventricular dysplasia is a pathologic condition of unknown origin that primarily affects the right ventricle free wall characterized by progressive atrophy with fibrous-fatty substitution of the myocardium. The patient affected may present in childhood or as an adult with cardiomegaly or/and ventricular arrhythmias with a left bundle branch block configuration. The reports of familial occurrence suggest the etiologic role of a genetic defect with autosomal dominance and variable expression and penetrance, an alternative, myocarditis (toxic or infectious) is a possible cause. The aim of the present study is an non-invasive instrumental evaluation of the family of a young patient affected by arrhythmogenic right ventricle dysplasia. The authors evaluated 10 patients, 7 women and 3 men, all asymptomatic, with electrocardiography, exercise stress test on a bicycle ergometer, 24-hour Holter monitoring and two-dimensional echocardiography. A patient had certain ARVD diagnosis, while in the other 9 patients all the instrumental investigations were normal. This observation seem to confirm that ARVD may be familial and justify a systematic in-depth familial study in all demonstrated cases of ARVD and the follow-up of all patients identified who had arrhythmias or isolated right ventricular morphologic anomalies.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Arrhythmias, Cardiac / diagnosis
  • Arrhythmias, Cardiac / etiology
  • Arrhythmias, Cardiac / genetics
  • Child
  • Echocardiography, Transesophageal
  • Electrocardiography
  • Electrocardiography, Ambulatory
  • Exercise Test
  • Female
  • Heart Defects, Congenital / complications
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Humans
  • Male
  • Middle Aged
  • Ventricular Dysfunction, Right / diagnosis*
  • Ventricular Dysfunction, Right / etiology
  • Ventricular Dysfunction, Right / genetics