2007a). Since its original description infantile and adult cardiomyopathy, renal and hepatic dysfunction have also been recognized as important clinical features of the syndrome. It is known to be caused by biallelic mutations in the ALMS1 gene (Collin et al. 2002; Hearn et al. 2002); however, although the syndrome was first described in 1959, and although the genetic basis has been known for more than a decade, the mechanisms linking the genetic defect to organ dysfunction are largely unknown. Here, ALMS1 is linked to cardiomyopathy.