Cardiovascular management in patients with Fabry disease
Management in Patients with Fabry Disease.
CARDIOVASCULAR MANIFESTATIONS IN FABRY DISEASE VARY BETWEEN DISEASE PHENOTYPES AND SEXES1
• Cardiovascular manifestations are common in Fabry disease and significantly impact patient morbidity and mortality.
• Early and accurate diagnosis of cardiovascular involvement is crucial for timely intervention and management.
• Both classic and non-classic Fabry disease phenotypes can present with cardiovascular symptoms, though the severity and onset may vary.
• Heterozygous females exhibit a wide range of cardiovascular manifestations due to random X- chromosome inactivation.
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Cardiac involvement in Fabry disease is due to accumulation of Gb3 in intramyocardial vessels, mitral and aortic valves, myocardium, and conduction tissue, leading to myocardial ischemia, valve regurgitation, storage hypertrophy, inflammation, fibrosis, conduction disturbances.1
Gb3 storage > cell dysfunction > cell damage > inflammation > hypertrophy > fibrosis2
CLINICAL MANIFESTATIONS OF CARDIAC FABRY DISEASE1
Clinical manifestations can range from angina, MINOCA, atrial fibrillation, ventricular arrhythmias, and bradyarrhythmias to HFpEF or HFrEF.
EVALUATING AND MANAGING CARDIOVASCULAR MANIFESTATIONS IN FABRY DISEASE3
SCHEDULE FOR CARDIAC MONITORING IN FABRY DISEASE AS
RECOMMENDED BY EXPERTS4,5
CARDIAC THERAPEUTIC GOALS IN FABRY DISEASE6
ROLE OF THE CARDIOLOGIST1
ACEI, angiotensin-converting-enzyme inhibitor; AF, atrial fibrillation; AI, artificial intelligence; ARB, angiotensin receptor blocker; AV, atrioventricular; CAD, coronary artery disease; CNS, central nervous system; CRT, cardiac resynchronization therapy; CV, cardiovascular; DOAC, direct oral anticoagulant; ECG, electrocardiogram; Echo, echocardiogram; eGFR, estimated glomerular filtration rate; ERT, enzyme replacement therapy; ESC, European Society of Cardiology; ETT, exercise tolerance test; Gb3, globotriaosylceramide; GI, gastrointestinal; GLS, global longitudinal strain; HCM, hypertrophic cardiomyopathy; HF, heart failure; HFpEF, heart failure with preserved ejection fraction; HFrEF, heart failure with reduced ejection fraction; ICD, implantable cardioverter defibrillator; ICG, impedance cardiography; LGE, late gadolinium enhancement; LV, left ventricular; LVH, left ventricular hypertrophy; LVOT, left ventricular outflow tract; LVOTO, left ventricular outflow tract obstruction; lyso-Gb3, globotriaosylsphingosine; MINOCA, myocardial infarction with non-obstructive coronary arteries; MRA, mineralocorticoid receptor antagonist; MRI, magnetic resonance imaging; NT-proBNP, N-terminal pro b-type natriuretic peptide; NYHA, New York Heart Association; QoL, quality of life; SGLT2i, sodium-glucose cotransporter 2 inhibitors; SVT, supraventricular tachycardia; VKA, vitamin k antagonist; VT, ventricular tachycardia.
Referenser
1. Pieroni M, et al. Eur Heart J. 2024:ehae148.
2. Pieroni M, et al. J Am Coll Cardiol. 2021;77(7):922-36.
3. Linhart A, et al. Eur J Heart Fail. 2020;22(7):1076-96.
4. Ortiz A, et al. Mol Genet Metab. 2018;123(4):416-427.
5. Germain DP, et al. Mol Genet Metab. 2022;137(1-2):49-61.
6. Wanner C, et al. Mol Genet Metab. 2018;124(3):189-203.
7. Hughes DA, et al. BMJ Open. 2019;9(11):e031696.
8. Arbelo E, et al. Eur Heart J. 2023;44(37):3503-3626.
