Abstract
Although Fabry disease was identified a century ago, it is still a challenging condition to diagnose and treat. Registries data suggest that at least 10% of patients may first present with a cardiac event and that cardiac disease is 1 of the 3 major causes of morbidity and mortality in affected males and females. Cardiac involvement in Fabry disease may be expressed as left ventricular hypertrophy (LVH), coronary disease, atrioventricular conduction disturbances, arrhythmias, and valvular involvement. The exact mechanism by which hypertrophy and fibrosis in the heart occur is not fully understood. Lysosomal globotriaosylceramide accumulation in the myocardium is responsible for only 3% of the mass in the hypertrophic heart, indicating that the LVH is not a direct result of substrate infiltration. One of the most important contributions that cardiologists can make is to consider the diagnosis of Fabry disease in patients with cardiac manifestations preceding the development of LVH and conduct family screen...
Highlights
Fabry disease (FD) was originally considered as an X-linked recessive disorder, we know that heterozygous females may be severely affected, is a relatively common cause of Hypertrophic cardiomyopathy (HCM), and is associated with significant morbidity and premature death due to heart failure or sudden cardiac death (SCD).[7,8,9,10]
The prevalence of FD in patients with HCM is estimated between 0% and 6%, recent studies including more patients showed a prevalence of 0.5% to 1%
One of the most important contributions that cardiologists can make is to think about a diagnosis of FD in patients with cardiac manifestations preceding the development of left ventricular hypertrophy (LVH) and conduct family screening to identify patients with early cardiac involvement which will benefit more from enzyme replacement therapy (ERT)
Summary
Hypertrophic cardiomyopathy (HCM) is defined by the presence of a thickening of the left ventricular wall not accounted for by abnormal loading conditions only.[1,2,3] It is the most common genetic disease (1 of 500 births) caused by mutations in different genes encoding proteins of the cardiac sarcomere, and a low percentage is a result of other genetic disorders including metabolic diseases, genetic syndromes, and hereditary neuromuscular diseases, and in approximately 25% to 30% of patients no mutation can be identified despite a complete genetic study.[3,4] there are diseases in which genetic and metabolic causes interact and have similar phenotypic manifestations (phenocopies) as in the case of Fabry disease (FD).[1,2,3,4,5,6] FD was originally considered as an X-linked recessive disorder, we know that heterozygous females may be severely affected, is a relatively common cause of HCM, and is associated with significant morbidity and premature death due to heart failure or sudden cardiac death (SCD).[7,8,9,10] the prevalence of FD in patients with HCM is estimated between 0% and 6%, recent studies including more patients showed a prevalence of 0.5% to 1%.11-17 given that the development of left ventricular hypertrophy (LVH) in FD is progressive, we must find cardiac manifestation of FD even in patients who do not still have LVH. Patients with FD without cardiac manifestations of the disease should be evaluated annually by a cardiologist specialized in FD disease, regardless of the indication for ERT
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