Clinical Characteristics Analysis of Male Patients with Danon Disease
Objective Danon disease is a lysosomal storage disease caused by mutations in the X-linked lysosome-associated membrane protein gene(LAMP2).We summarized the clinical manifestations,laboratory tests,imaging findings,and genotypes of male Danon disease patients so as to enhance clinical physicians'understanding of the disease.Methods Eight male patients with defined LAMP-2 mutation in Peking Union Medical College Hospital between 2008 and 2022 were retrospectively analyzed.Their clinical manifestations,genotypes and prognosis were investigated.Results The median age of onset was 12.0 years,with palpitations,decreased activity tolerance,and syncope as the first manifestations.87.5％(6/8)of the patients had cardiac involvement,and echocardiography demonstrated left ventricular hypertrophy(median left ventricular posterior wall thickness was 15.0 mm).The most common arrhythmia was Wolff-Parkinson-White syndrome(85.7％,6/7).Other ECG manifestations were left ventricular hypertrophy(median SV1+RV5/RV6 was 4.10 mV)and deeply inverted T waves.Cardiac MRI showed late gadolinium enhancement in 2 patients.62.5％(5/8)of the patients had mental retardation,and 25.0％(5/8)had muscle weakness.Out of 8 patients,2 were lost in follow-up and 6 were followed up for 1-9 years.Over a median follow-up of 3.83 years,4 patients died(median age of death was 19.0 years),and the causes of death were heart failure in 3 patients and aborted cardiac arrest in one patient.Conclusion Typical manifestations of male Danon disease include myocardial involvement,skeletal muscle involvement,mental retardation,and ocular manifestations.
NETL
NSTL
万方数据
