Multisystem involvement and early onset of Danon’s disease in female children. Clinical cases

Abstract

Danon’s disease (DD) is a rare multisystem disease caused by pathogenic variants in the LAMP2 gene. Men are characterized by a multisystemic Involvement, most often represented by a triad of symptoms: skeletal myopathy, cardiomyopathy (hypertrophic phenotype), and cognitive dysfunction. Women are more likely to have isolated heart disease. Given that women are less likely to have extracardiac manifestations, the diagnosis of the disease in females can be very difficult and untimely. In this article, we present 2 clinical cases of BD in adolescent girls, characterized by an early onset of the disease and a multisystem course.