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RESEARCH PRODUCT

The Heart in Fabry Disease – from Pathogenesis to Enzyme Replacement Therapy

subject

description

The cardiovascular involvement in Fabry disease is progressive, and accounts for one of the major reasons for abbreviated life expectancy and increased morbidity. The majority of patients develop signs and symptoms, related to heart failure and arrhythmias. Hypertrophic cardiomyopathy, in later stages combined with myocardial fibrosis, is one of the leading features. Both genders are affected, and females develop severe cardiac Fabry disease approximately 10–15 years later in life than male patients. Diastolic dysfunction and reduced longitudinal mid-wall related systolic function are the mechanical consequences of the myocardial and epithelial changes related to accumulation of the storage material in different cardiac components. The direct involvement of the conduction system and myocardial scar formation are the contributing factors for the development of complex arrhythmias, accompanied by disturbances in the autonomic control of the heart rate and its variability. Some of these changes are readily detectable in childhood and adolescence. Treatment of the cardiovascular involvement is crucial and consists of concomitant management of clinical symptoms and on enzyme replacement therapy. Different aspects of the cardiac disease and possible treatment options are discussed.