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

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 26% and LV dilation. Genetic testing identified a missense variant in torsin A interacting protein 1 (TOR1AIP1) (OMIM #614512), which confirmed LGMD2Y. During hospitalisation for acute HF, she was treated with intravenous diuretic, nesiritide, levosimendan and guideline-directed medical therapy (GDMT). After 2 years of follow-up, her LVEF increased to 41%, and her N-terminal pro-B-type natriuretic peptide (NT-proBNP) levels stabilized, with no hospital readmissions for HF exacerbations. Discussion: It is essential to investigate the aetiology of HF, as even rare causes can be identified. Early diagnosis and tailored management, including GDMT for HF, are critical for improving patient outcomes. Additionally, this case highlights the importance of close cardiac monitoring in LGMD subtypes prone to cardiomyopathy.