Heart transplantation in Danon disease: a single family displaying diverse phenotypes

Danon disease (DD) is an X-linked systemic disorder characterized by left ventricular hypertrophy, mental retardation, and skeletal myopathy.1 DD is caused by a deficiency of the lysosome-associated membrane protein (LAMP-2) which leads to an accumulation of autophagic vacuoles in skeletal and heart muscles, liver, and kidneys (Figure 1A).2 Histological analysis shows disorganized cellular architecture and hypertrophic cardiomyocytes with sarcoplasmic vacuoles. Electrocardiogram usually displays a Wolff-Parkinson-White (WPW) pre-excitation pattern.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Source Type: research