Hypertrophic obstructive cardiomyopathy and lentiginosis: a little known neural ectodermal syndrome.

Eleven patients, 10 male, with classic hypertrophic obstructive cardiomyopathy and lentiginosis are described. Physical examination showed differences from the few previously reported cases in that (1) this condition was not confined to children; (2) mental retardation, sensorineural deafness and gonadal and somatic infantilism were either rare or absent; and (3) detailed family studies provided no evidence that this condition was inherited. Nine patients underwent cardiac catheterization and left ventricular angiography; all had left ventricular outflow obstruction and three had concomitant right ventricular outflow obstruction with a pressure gradient in excess of 100 mm Hg. Ten of the 11 patients were severely symptomatic, and 7, each with a left ventricular pressure gradient of more than 70 mm Hg, underwent successful septal myotomy/myectomy that resulted in marked symptomatic improvement that was maintained after long-term follow-up.