Premium
Pacemaker Malfunctions in Danon's Disease
Author(s) -
MARRAS ELENA,
SCIARRA LUIGI,
BOCCHINO MANUELA,
DELISE PIETRO
Publication year - 2008
Publication title -
pacing and clinical electrophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.686
H-Index - 101
eISSN - 1540-8159
pISSN - 0147-8389
DOI - 10.1111/j.1540-8159.2007.00937.x
Subject(s) - medicine , hypertrophic cardiomyopathy , implantable cardioverter defibrillator , cardiology , cardiomyopathy , disease , sudden cardiac death , glycogen storage disease , sudden death , atrioventricular block , primary prevention , heart failure
We describe a case of a 30‐year‐old man with Danon's disease, an X‐linked genetic disorder due to deficiency of lysosomal‐associated membrane protein 2 with secondary intracytoplasmatic glycogen and autophagic material storage. This disease is characterized by skeletal muscle involvement, mental retardation, ophthalmic abnormalities, and cardiac disease. In this patient, cardiac involvement was characterized by hypertrophic cardiomyopathy in young age, preexcitation, and parossistic atrioventriular block. The patient underwent to an implantable cardioverter defibrillator implantation for conduction disorders and for primary prevention of sudden death, a frequent event in Danon's disease. This case report describes cardiac involvement with conduction disorders and multiple pacemaker malfunctions in Danon's disease.