A 19-year-old man with a previous diagnosis of Borjeson-Forssman-Lehmann syndrome was referred for heart transplantation after a dilated cardiomyopathy was found. This is the first known report of Borjeson-Forssman-Lehmann syndrome and dilated cardiomyopathy; possible explanations for this infrequent association are revised. The purpose of the present report is to highlight the importance of cardiovascular investigation in this syndrome.