Dilated cardiomyopathy and myocardial infarction secondary to congenital generalized lipodystrophy

Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is a very rare hereditary syndrome that is characterized by an almost complete absence of adipose tissue from birth. Cardiac involvement seems to have substantial influence in the long-term prognosis. Herein, we report an apparently unique case of congenital generalized lipodystrophy with cardiac sequelae. A 17-year-old woman, diagnosed in childhood with Berardinelli-Seip syndrome, presented with severe epigastric pain that was secondary to previous myocardial infarction. The patient had ischemia, dilated cardiomyopathy, and congestive heart failure, but no coronary artery disease. She was discharged from the hospital in stable condition after 3 days of medical treatment. To our knowledge, this is the 1st reported case of congenital generalized lipodystrophy with dilated cardiomyopathy, congestive heart failure, severe mitral regurgitation, and inferior myocardial infarction as cardiac sequelae of this syndrome--but without evidence of coronary artery disease or cardiac hypertrophy. In addition to discussing this patient's case, we present diagnostic and therapeutic approaches to Berardinelli-Seip syndrome.