The Alstrom Syndrome: A Multisystem Genetic Disorder Presenting as a Cardiac Crisis: A Case Report

Singireddy Dattakshaya, Tata Leela Ram Gopal

Abstract: Since it is an inherited ciliopathy, diagnosis is frequently difficult due to the variety of clinical symptoms it presents with. Cone-rod dystrophy, hearing loss, cardiomyopathy, obesity, and type 2 diabetes mellitus are common symptoms. We discuss the case of a 28-year-old man who had severe iron deficiency anemia and acute decompensated heart failure due to a strong family history of consanguinity. The clinical diagnosis of Alstrom syndrome was supported by many findings from the diagnostic evaluation, including retinitis pigmentosa, bilateral hearing loss, hypothyroidism, and renal impairment. Early diagnosis and thorough treatment are crucial to minimizing complications because delayed detection of this disorder can result in severe morbidity and mortality.

Keywords: Alstrom Syndrome, Anemic Heart Failure, Retinitis Pigmentosa, Ciliopathy, Consanguinity

How to Cite?: Singireddy Dattakshaya, Tata Leela Ram Gopal, "The Alstrom Syndrome: A Multisystem Genetic Disorder Presenting as a Cardiac Crisis: A Case Report", Volume 15 Issue 1, January 2026, International Journal of Science and Research (IJSR), Pages: 223-224, https://www.ijsr.net/getabstract.php?paperid=SR251223194557, DOI: https://dx.doi.org/10.21275/SR251223194557