A rare case of Alström syndrome presenting with rapidly progressive severe dilated cardiomyopathy diagnosed by echocardiography.
Alström Syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, and obesity; with diabetes, and hepatic and renal dysfunction later on in life. Since the first description of the syndrome in 1959, there have been fewer than 100 reported cases in the world. We report a case of a 7-month-old girl whose initial presentation of Alström syndrome was a rapidly progressive severe dilated cardiomyopathy, diagnosed by echocardiography. Unique characteristics of the cardiomyopathy in Alström syndrome and the important role of echocardiography in Alström syndrome and other genetically transmitted disorders, especially with known cardiovascular manifestations, is discussed.
Makaryus
Amgad N
AN
Department of Cardiology, North Shore University Hospital, New York University School of Medicine, Manhasset 11030, USA.
Popowski
Barbara
B
Kort
Smadar
S
Paris
Yvonne
Y
Mangion
Judy
J
D006332:Cardiomegaly; D002311:Cardiomyopathy, Dilated / Q000000981:diagnostic imaging* / Q000235:genetics*; D018450:Disease Progression; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D012131:Respiratory Insufficiency / Q000209:etiology; D013577:Syndrome; D014463:Ultrasonography