Limb-girdle muscular dystrophy type 2Y with cardiac involvement in a 23-year-old woman: a case report.

ABSTRACT:

Background

As an extremely rare genetic disorder, limb-girdle muscular dystrophy type 2Y (LGMD2Y) is associated with progressive muscle weakness and potential cardiac involvement. Despite being less common compared with other muscular dystrophies, cardiac manifestations in LGMD2Y can lead to severe heart failure (HF). The diagnosis and management of cardiac involvement are crucial for improving outcomes in these patients.

Case summary

In this study, the case of a 23-year-old woman who has suffered from progressive muscle weakness since age 13 and was initially diagnosed with metabolic myopathy was presented. Four months before admission, she developed symptoms of HF, like chest oppression and leg oedema. Echocardiography showed a left ventricular ejection fraction (LVEF) of

SUBMITTER: Zhang X 

PROVIDER: S-EPMC12204197 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature