Danon disease is a rare X-linked glycogen storage disease caused by deficiency of the lysosome-associated membrane protein 2 (LAMP-2). It classically lies in the domain of pediatric cardiology due to severe cardiac involvement in male children and adolescents, in the form of hypertrophic cardiomyopathy (HCM) associated with ventricular pre-excitation and rapidly progressive course [1,2]. The syndromic context in which the cardiomyopathy occurs, featuring skeletal myopathy, cognitive defects and visual problems, directs clinical suspicion and diagnostic work-up.
Rare X-linked storage heart diseases are tougher on men but not kind to women / Olivotto I.; Favilli S.. - In: INTERNATIONAL JOURNAL OF CARDIOLOGY. - ISSN 0167-5273. - STAMPA. - 286:(2019), pp. 113-114. [10.1016/j.ijcard.2019.03.007]
Rare X-linked storage heart diseases are tougher on men but not kind to women
Olivotto I.;Favilli S.
2019
Abstract
Danon disease is a rare X-linked glycogen storage disease caused by deficiency of the lysosome-associated membrane protein 2 (LAMP-2). It classically lies in the domain of pediatric cardiology due to severe cardiac involvement in male children and adolescents, in the form of hypertrophic cardiomyopathy (HCM) associated with ventricular pre-excitation and rapidly progressive course [1,2]. The syndromic context in which the cardiomyopathy occurs, featuring skeletal myopathy, cognitive defects and visual problems, directs clinical suspicion and diagnostic work-up.
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