CONGRESS ABSTRACT

Background and aim:  Epidermolysis bullosa simplex (EBS) is a rare inherited blistering disease and mutations in kelch-like protein 24 (KLHL24) were recently implicated in a unique subtype of EBS [1,2]. KLHL24 is expressed at similar levels in keratinocytes and cardiomyocytes. There is a growing association of dilated cardiomyopathy in…

Introduction: Transthyretin cardiomyopathy (ATTR-CM) is associated with high morbidity and mortality. Vutrisiran, an RNA interference therapeutic, rapidly knocks down circulating levels of TTR, thus suppressing the amyloid deposition that drives disease progression. In HELIOS-B, vutrisiran decreased risks of cardiovascular (CV) events and all-cause mortality (ACM) for patients with ATTR-CM….

Background: In the phase 3 HELIOS-B trial (NCT04153149), vutrisiran reduced the risk of all-cause mortality (ACM) and recurrent cardiovascular (CV) events, and improved functional capacity and quality of life (QoL) vs placebo in patients with transthyretin amyloidosis with cardiomyopathy (ATTR-CM). Methods: This subgroup analysis assessed the effect of vutrisiran…

A 71-year-old man labeled in the past as having “arrhythmogenic right ventricular dysplasia” was hospitalized in May 2022 for exacerbation of right-sided heart failure symptoms. He suffered from arterial hypertension and dyslipidemia, he was an ex-smoker and had family history of ischemic heart disease. In 2014 a slow-slow atrioventricular…