SCIENTIFIC JOURNAL of the Hungarian Society of Cardiology

Role of modern cardiac magnetic resonance imaging techniques for the assessment of cardiac involvement in Fabry disease

█ Case report

DOI: 10.26430/CHUNGARICA.2021.51.1.63

Meiszterics Zsófia1, Faludi Réka1, Gyimesi Tamás2, Kőhalmi Zoltán3, Simor Tamás1, Gaszner Balázs1
1Pécsi Tudományegyetem, Klinikai Központ, Szívgyógyászati Klinika, Kardiológia, Pécs
2Pécsi Tudományegyetem, Klinikai Központ, II. sz. Belgyógyászati Klinika és Nephrológiai, Diabetológiai Centrum, Nephrológia, Pécs
3MOM, Szt. Magdolna Magánkórház, Budapest


Introduction: Fabry disease is a rare, progressive, X-linked lysosomal storage disorder with a 58 years (ys) average life expectancy in men. Its cardiac manifestation belongs to the group of hypertrophic cardiomyopathy phenocopies and thus has a differential diagnostic challenge. Disease-specific late gadolinium enhancement (LGE) pattern by cardiac magnetic resonance imaging (CMR) is a sign of advanced disease. Furthermore modern CMR techniques (T1 mapping, feature tracking – FT) are suitable for the evaluation of early disease specific myocardial alterations.

Case report: A 65-year-old man with persistent proteinuria and deteriorating renal function was diagnosed with Fabry disease proved by genetic testing at age of 50 ys. Baseline cardiac MRI showed good left ventricular (LV) ejection fraction, normal LV volumetric parameters and normal LV mass without LGE. Enzyme replacement therapy (ERT) was initiated at age of 51 ys. Typical chest pain, ischaemic ECG signs indicated coronary angiography and consequently CABG surgery was performed. Renal failure developed at the age of 57 ys and thus kidney transplantation was carried out successfully. Deteriorating LV hypertrophy was found during the regular echocardiographic check-ups. Cardiac MRI at the age of 64 ys showed all the disease-specific myocardial alterations (doubled LV mass compared to baseline value (148 vs. 328 g), basal inferolateral midmyocardial LGE, locally decreased postcontrast T1 mapping and elevated extracellular volume measures and decreased strain values with FT). Postprocessing the baseline MRI images with FT, an early, global and segmental strain reduction was also detectable.
Conclusion: Evaluation of subclinical cardiac involvement with modern imaging techniques is crucial since early ERT may slow down disease progression and can improve life expectancy and survival time.



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