Hypertrophic cardiomyopathy associated with inborn errors of metabolism in children / 中国实用儿科杂志

ABSTRACT

Inborn errors of metabolism in children is an important cause of hypertrophic cardiomyopathy. Characteristic manifestations of the diseases are helpful for rapid diagnosis. Most of the diseases are autosomal recessive inheritance,a few of them are autosomal dominant inheritance,X-linked inheritance,while some mitochondrial diseases are maternal inheritance. Conventional cardiac examinations such as electrocardiogram and echocardiography can provide diagnostic clues for the underlying causes of some diseases. With the rapid progress of new treatment methods such as enzyme replacement therapy,strengthening cardiac assessment,appropriate treatment for underlying diseases and multi-disciplinaries collaboration will provide more opportunities of survival for the patients.