Troponin rise in Fabry disease: an Australian perspective

BACKGROUND: Fabry Disease, the most common lysosomal storage disorder in Australia, is a multisystem disorder characterised by the accumulation of globotriaosylceramide due to mutations in the α-galactosidase A gene. AIMS: This study assesses the cardiac manifestations in an Australian Fabry disease cohort and, in particular, the relationship between elevated troponin and echocardiogram markers of left ventricular hypertrophy (LVH). METHODS: Retrospective cohort study conducted at the Royal Melbourne Hospital, Australia; data collection up to 2022. Patient information, including demographic data, troponin levels, mutation subtype, treatment history and renal and cardiac parameters was extracted from the database. RESULTS: Eighty-seven out of 102 patients met the inclusion criteria. Echocardiographic markers of LVH were significantly higher in the elevated troponin group (P < 0.0001), though left ventricular ejection fraction was preserved. Six patients with elevated troponin levels underwent coronary angiograms revealing normal coronary arteries. Elevated troponin levels were significantly associated with older age (P = 0.013), male sex (n = 20, 50% vs n = 11, 23%; P = 0.013) and enzyme replacement therapy (n = 30, 75% vs n = 6, 13%; P < 0.001). Classical mutations were strongly associated with troponin elevation in males (odds ratio (OR), 5.7; P = 0.02). Patients with elevated troponin levels had higher incidences of arrhythmias (n = 17, 42.5% vs n = 8, 17%; P = 0.004), severe heart failure symptoms (n = 21, 53% vs n = 4, 8.5%; P < 0.001) and need for pacemakers (n = 12, 14% vs n = 1, 2%; P = 0.001). CONCLUSIONS: Elevated troponin levels in Fabry disease are strongly associated with LVH due to cardiac infiltration and should not automatically trigger invasive coronary investigations in the absence of dynamic changes. Understanding this association can potentially avoid unnecessary interventions for patients with Fabry disease.