[Danon disease: a case report and literature overview].
Danon disease, a rare glycogen storage disease, is a dominant X-linked disorder. It is due to mutation in gene for lysosome-associated membrane protein 2 (LAMP 2). The LAMP 2 gene is located on Xq24, and its mutation causes primary deficiency of LAMP 2 and myocyte hypertrophy by accumulations of vacuoles containing glycogen. Danon disease is clinically characterized by the triad of hypertrophic cardiomyopathy (HCM), proximal myopathy and mental retardation. Myopathy and mental retardation can be absent, and cardiomyopathy is usually hypertrophic. This is a case report of the patient with genetically confirmed Danon disease and mixed cardiomyopathy, but without myopathy and mental retardation. ECG showed typical Wolff-Parkinson-White (WPW) pattern while echocardiography demonstrated hypertrophy and dilatation of all cardiac chambers with impaired systolic and diastolic function. Male sex, early onset of symptoms, massive hypertrophy of the myocardium and ventricular preexcitation indicate a genetic basis for HCM. Therapeutic measures, except heart transplantation, do not improve prognosis substantially. Only an accurate diagnosis in patients with unexplained HCM helps in establishing of the appropriate treatment strategies and adequate genetic consultation.
Catović
Suad
S
Otasević
Petar
P
D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications; D052120:Glycogen Storage Disease Type IIb / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male