Year: 2024
Type: article
Study design: Case Report
Abstract: Background: Usher syndrome is a genetic disorder characterized by the concomitant occurrence of hearing and visual impairments. While cardiac complications in this condition are uncommon, they have been documented in the literature. Case Summary: In this case study, we describe a 29-year-old patient with pre-existing deafness and vision problems who subsequently developed dilated cardiomyopathy leading to acute heart failure. Transthoracic echocardiography showed biventricular dilatation and severe left ventricular dysfunction. At the 6-month follow-up, the cardiomyopathy appeared to have stabilized through a multimodal treatment approach, including the use of beta-blockers, ACE inhibitors, mineralocorticoid receptor antagonists, and SGLT2 inhibitors. Discussion: Usher syndrome is the most common cause of combined hearing and vision impairment. Some patients also experience balance issues and lack of vestibular function. The diagnosis is primarily based on the presence of congenital hearing loss and retinal pigmentation, which typically manifests in childhood or early adulthood. It is unfortunate that there are few cases in the literature of cardiac involvement in this syndrome. This makes the use of echocardiography vital for diagnosing and assessing the ejection fraction, managing heart failure episodes and enhancing treatment.
Source: SAS Journal of Medicine
Institution: Centre Hospitalier Universitaire Mohammed VI
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4402322784