Related Experiment Video
Updated: May 30, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Right ventricular obstructive hypertrophic cardiomyopathy in primary myo-adenylate deaminase deficiency
C de Gregorio1, G Morabito, O Musumeci
1Clinical and Experimental Department of Medicine and Pharmacology, Messina University Hospital, Messina, Italy. cdegregorio@unime.it
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.
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Cardiomyopathy I: Introduction and Classification
Cardiomyopathy IV: Restrictive Cardiomyopathy
Cardiomyopathy II: Dilated Cardiomyopathy
Cardiomyopathy V: Interprofessional Care
Rheumatic Heart Disease I: Introduction
