Echocardiographic Abnormalities in Familial Dysautonomia

Sudden death accounts for up to 43% of all deaths in patients with familial dysautonomia (FD). The classic features of FD, namely, autonomic dysfunction, high blood pressure, and blood pressure labiality, are all risk factors for cardiac remodeling and hypertrophy. Myocardial remodeling and hypertrophy are independent risk factors for arrhythmias, cardiovascular events, and sudden death. An extensive review of the medical literature found no documentation of structural heart defects or myocardial remodeling in patients with FD. Sixteen patients with FD underwent physical examination, in-clinic blood pressure measurements, and echocardiographic study. On the basis of the findings, the patients were categorized by left ventricular geometric pattern. Twenty-four-hour ambulatory blood pressure monitoring was recommended to all participants. The majority of FD patients were found to have very high blood pressure values both during in-clinic measurements and during ambulatory blood pressure monitoring. Echocardiographic abnormalities were found in 43.75% of the study group; 18.75% of the study group had concentric hypertrophy, among which severe hypertrophy was found in 2 patients. Unknown previously, cardiac remodeling or hypertrophy is common in FD. We recommend that routine cardiac echocardiography be performed in this population, and attempts to treat high blood pressure should begin earlier in life.