Thallium perfusion and cardiac enzyme abnormalities in patients with familial hypertrophic cardiomyopathy.

Twelve patients of five families with familial hypertrophic cardiomyopathy were examined. Within each family, the older patients showed dilation or diminished contraction of the left ventricle by echocardiography or angiocardiography more frequently than did younger patients. LDH1 fraction (lactic dehydrogenase isoenzyme) and MB-CPK (creatinine phosphokinase isoenzyme) were increased in 7 of 10 patients. Thallium-201 myocardial scintigraphy showed perfusion defect or hypoperfusion in 9 of 10 patient. Eleven cases demonstrated remarkable hypertrophy at the macroscopic level. Marked fibrosis was observed in all 5 of the 11 patients whose histologic findings were obtained. In two necropsy cases, disarray was found throughout the right and left ventricles and the pattern of fibrosis was massive. These findings were different from those of ordinary hypertrophic cardiomyopathy. It is possible that each patient with familial hypertrophic cardiomyopathy may develop more prominent thallium and enzyme abnormalities as he becomes older, regardless of whether he develops a dilated cardiomyopathy picture.