Publication:

Alström syndrome: a rare genetic cardiomyopathy

With an incidence estimated at less than 1 100 000, Alstrom syndrome (AS) was first reported in 1959. AS is an autosomal recessive multi organ disorder, characterized by childhood obesity, adult short stature with initial accelerated childhood linear growth, progressive cone-rod dystrophy leading to blindness, and sensorineural hearing loss. Acanthosis nigricans, hyperinsulinemia, hypertriglyceridemia, hypothyroidism, infertility (hypergonadotrophic hypogonadism), and early-onset diabetes mellitus are the endocrinology consequences. In children dilated cardiomyopathy is the main cause of mortality, in older affected patients, renal failure is the main cause of death. We report a rare case of a 04-month-old girl with dilated cardiomyopathy, Global developmental delay, congenital nystagmus caused by ALMS1 mutation. This study demonstrates that genetic testing for cardiomyopathy without an obvious acquired cause help in determining the underlying cause, managing the condition appropriately, diagnosing syndromic forms early, and keeping an eye on and initiating pre-symptomatic treatment for related extracardiac complications.