Bight ventricular obstructive hypertrophic cardiomyopathy in primary Myo-Adenylate Deaminase deficiency

Cesare De Gregorio, G. Morabito, O. Musumeci, R. Donato, A. Toscano

Research output: Contribution to journalArticlepeer-review

Abstract

MyoAdenylate Deaminase Deficiency (MADD) is a relatively common metabolic disorder of the skeletal muscle. Patients with MADD usually show an impaired bioenergetic production and a clinical spectrum with either exercise-induced muscle pain, fatigue and/or rhabdomyolysis. Left ventricular hypertrophy as well as other types of cardiac involvement have been reported in patients with primary MADD. We describe herein a case of a 61-year-old woman with biochemical and genetic evidence of Myo-Adenylate Deaminase deficiency, in whom we found a right ventricular hypertrophic cardiomyopathy leading to severe outflow tract dynamic obstruction.

Original languageEnglish
Pages (from-to)46-48
Number of pages3
JournalActa Myologica
Volume30
Issue numberJUNE
Publication statusPublished - Jun 2011

Keywords

  • Echocardiography
  • Myo-Adenylate Deaminase deficiency
  • Neuromuscular disorders
  • Right ventricular disease
  • Right ventricular hypertrabeculation
  • Right ventricular hypertrophic cardiomyopathy

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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