Chinese Expert Consensus on the Diagnosis and Treatment of Adult Fabry Disease Cardiomyopathy

Fabry disease (FD) is an X-linked genetic disorder caused by mutations in the GLA gene. It leads to reduced or complete deficiency of the activity of α-galactosidase A (α-Gal A), resulting in an accumulation of the metabolic substrate globotriaosylceramide (Gb3) and its derivative, globotriaosylsphingosine (Lyso-Gb3), in a wide range of cells and tissues, which causes multiple organ pathologies. In the cardiovascular system, FD predominantly leads to left ventricular hypertrophy and/or conduction abnormalities known as FD cardiomyopathy. Since FD cardiomyopathy is the leading cause of death in adult patients with FD, early diagnosis combining cardiac imaging, enzyme and substrate activity, genetic testing, and tissue biopsy, as well as early specific enzyme replacement therapy are important to improve patient prognosis. This consensus comprehen-sively summarizes the published evidence related to the diagnosis and treatment of FD cardiomyopathy at home and abroad, and provides a basis for the diagnosis and management of FD cardiomyopathy.