Cardiac damage in Anderson–Fabry disease (clinical case)

The fact that Anderson–Fabry disease is rarely found in clinical practice results in low physicians’ awareness of this disorder, leads to the delayed diagnosis and treatment. A clinical case of delayed diagnosis of the non-classical Anderson–Fabry disease phenotype in a patient with the cardiac lesion in the form of hypertrophic cardiomyopathy, heart rthythm and conduction disturbances is provided. At the same time, the cascade family screening contributed to early diagnosis of Fabry disease in the patient’s brother.