AN ELDERLY MAN WITH KLINEFELTER-SYNDROME ASSOCIATED WITH HYPERTROPHICCARDIOMYOPATHY, SICK SINUS SYNDROME, AND CORONARY ARTERIOVENOUS-FISTULA

Hypertrophic cardiomyopathy (HCM) is a rare cardiac complication in pa tients with Klinefelter syndrome, We report the case Of a 67-year-old Japanese man with Klinefelter syndrome, HCM, sick sinus syndrome, and coronary arteriovenous fistula, in whom the 47XXY/46XY mosaic pattern was revealed by chromosomal study, Echocardiography revealed HCM with an interventricular septum thickness of 17 mm and a left ventricular p osterior wall thickness of 10 mm, Sick sinus syndrome type III was dia gnosed by paroxysmal atrial fibrillation (longest sinus arrest 9.0 sec ) on 24-h Holter ECG recording. Coronary arteriovenous fistula was det ected from the left anterior descending artery to the right ventricle by coronary arteriography. To our knowledge, this is the first case re port of Klinefelter syndrome with HCM. As there have been a few report s of patients with Klinefelter syndrome in association with skeletal m uscular diseases such as Becker-type muscular dystrophy or myotonic dy strophy, the gene mutation that causes Klinefelter syndrome may occur in the cardiac muscle. HCM may represent another variable expression o f this chromosomal abnormality.