Transapical beating-heart septal myectomy for Fabry cardiomyopathy with left ventricular outflow tract obstruction: a retrospective case series.

ABSTRACT:

Background

Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by glycosphingolipid accumulation, resulting in multi-organ dysfunction. Cardiac involvement, known as Fabry cardiomyopathy, may rarely present with left ventricular outflow tract (LVOT) obstruction, which is often refractory to pharmaceutical therapy and may require septal reduction therapy (SRT). Herein, we report the first clinical experience of transapical beating-heart septal myectomy (TA-BSM), a novel SRT procedure, in treating severe LVOT obstruction secondary to Fabry cardiomyopathy.

Case description

Four genetically confirmed FD patients with symptomatic LVOT obstruction underwent TA-BSM between October 2022 and September 2024. The cohort comprised two males with classic early-onse

SUBMITTER: Tian J 

PROVIDER: S-EPMC12591760 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature