[Cardiac involvement in familial amytrophic chorea with acantocytosis: description of two new clinical cases].

Familial amyotrophic chorea and acanthocytosis, also known as the Levine-Critchley syndrome, is a rare inherited disease characterized primarily by central nervous system involvement with progressive demyelinization and autosomic or dominant transmission. Clinical symptoms include orofaciolingual dyskinesia and involuntary choreiform movements associated with skeletal muscle atrophy due to axonal demyelinization and erythrocyte acanthocytosis. A few patients have some cardiac abnormality, including an electrocardiographic pattern of left ventricular hypertrophy, left atrial wave abnormalities, non-specific ST-T wave changes, and a pseudonecrosis pattern with abnormal Q waves in the inferior leads. Two-dimensional echocardiography has disclosed concentric ventricular hypertrophy and the typical findings of congestive cardiomyopathy. We report the case of two brothers, 40 and 58 years old, who had asymmetric left ventricular hypertrophy (more marked in the younger brother), left ventricular mass index increase unrelated to a hypertensive state or the percent of circulating acanthocytes. Functional systolic parameters were normal. The younger brother had dilation of the aortic root and marked enlargement of the non-coronary Valsalva sinus, and both patients manifested mitral leaflet redundancy without evident prolapse. Our observations suggest the hypothesis that connective tissue and/or vessel muscle-elastic fiber pathology is associated with the well-known neurological disorders typical of the Levine-Critchley syndrome. It is thus advisable that these patients undergo thorough cardiovascular evaluation.