High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME).
Yiting FanTsz-Ngai ChanJosie T Y ChowKevin K H KamWai Kin ChiJoseph Y S ChanErik FungMabel M P TongJeffery K T WongPaul C L ChoiDavid K H ChanBun ShengAlex Pui-Wai LeePublished in: Journal of clinical medicine (2021)
Left ventricular hypertrophy (LVH) caused by cardiac variant Fabry disease (FD) is typically late-onset and may mimic LVH caused by abnormal loading conditions. We aimed to determine the prevalence of FD in a non-selective patient population of everyday practice presenting with LVH, including those with hypertension and valve disease. We measured plasma alpha-galactosidase A activity using dried blood spot tests in 499 (age = 66 ± 13 years; 336 men) Hong Kong Chinese patients with LVH defined as maximal LV septal/posterior wall thickness ≥13 mm on echocardiography. Patients with low enzyme activity underwent mutation analysis of the GLA gene. Eight (age = 53-74 years; all men) unrelated patients (1.6%) had low plasma alpha-galactosidase A activity (0.57 ± 0.27 μmol/L wb/hr) and all were confirmed to have the GLA IVS4 + 919G > A mutation. FD patients presented with heart failure (n = 5), heart block (n = 2), ventricular tachycardia (n = 1), chest pain (n = 3), and/or murmur (n = 1). Uncontrolled hypertension (n = 4) and/or severe mitral/aortic valve pathology (n = 2) were frequent. Ethnic subgroups included Teochew (n = 5), Canton (n = 2), and Wenzhou (n = 1). Endomyocardial biopsy (n = 6) revealed hypertrophic myocytes with vacuolization and dense lamellar bodies. Late-onset IVS4 + 919G > A FD is prevalent among Chinese LVH patients, and should be considered as a cause of LVH in adult patients even when hypertension and/or valve pathology are present.
Keyphrases
- late onset
- left ventricular
- heart failure
- aortic valve
- end stage renal disease
- aortic stenosis
- early onset
- ejection fraction
- mitral valve
- newly diagnosed
- blood pressure
- hypertrophic cardiomyopathy
- chronic kidney disease
- peritoneal dialysis
- healthcare
- primary care
- transcatheter aortic valve implantation
- prognostic factors
- acute myocardial infarction
- patient reported outcomes
- cardiac resynchronization therapy
- transcatheter aortic valve replacement
- pulmonary hypertension
- aortic valve replacement
- replacement therapy
- case report
- optical coherence tomography
- single cell
- percutaneous coronary intervention
- fine needle aspiration
- body composition
- transcription factor