Cardiac Involvement in Usher Syndrome: A Case Report

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.