Introduction: Fabry disease (FD) is a rare X-linked ge-netic disorder. The resulting alpha-galasidase deficien-cy leads to lisosomal accumulation of globotryaosilce-ramide (Gb3), affecting most organs and tissues. Car-diac, renal and neurologic involvement influences the prognosis of these pts. Recent data shows the cardiac involvement can show differences in relation to gender, age, and may show signs that cand distinguish it from normal subjects (in early stages) or sarcomeric hyper-trophic cardiomyopathy (in advanced stages).
Objective: To describe the particularities of cardiovas-cular involvement in Romanian Fabry disease patients (pts).
Methods: The present study evaluated cardiovascular parameters in consecutive pts diagnosed with FD in Romania. Obtained data included clinica, biologic (car-diac and renal markers), ECG, ECG holter and echo-cardiographic (classic measurements and myocardic velocity and deformation study, using tissue Doppler and Speckle tracking). Patient files included complete data on renal and neurologic involvement.
Results: The database included 44 pts with FD, with an avg age of 47±15 years, 26 women. Women\›s mean age (52±15) was significantly higher than men\›s (40±12.5 years). More than half had been diagnosed through fa-mily screening and 7 were diagnosed because of cardiac involvement. It is to mention that each patient who has the same mutation is part of the same family, so the-re are only „private mutations” and that „foundational mutations” for FD have not been detected in Romania so far. Symptoms included: dyspnea (20 pts), angina, palpitations and syncope. Permanent pacemakers were present in 7 pts (5 women). Lab work-up showed high levels of BNP, 40% had BNP >100 pg/mL, Troponin I, 36% had Tn I >0.02 ng/mL. ECG analysis showed 19 pts with LVH criteria. Short PR (<120 ms) was present in 11 pts. Cardiac ultrasonography findings included: normal global systolic LV function (LVEF: 68.6±5.6%), but longitudinal dysfunction (GLS -15.6±4.5%), LV hypertrophy (≥12 mm) was present in 26 pts, of which, 25 had RV hypertrophy (≥6 mm) and 12 had papillary muscle hypertrophy. Analysis showed a correlation between age and cardiac dysfunction parameters and more severe disease in men at similar ages.
Conclusions: FD pts in Romania have important car-diovascular involvement, this being the reason for dia-gnosis in 15.9% of cases. Most frequent cardiovascular abnormalities were LVH, LV longitudinal dysfuncti-on with normal LVEF, supraventricular arrhythmias and pacemaker necessity, more so in the absence of enzymatic treatment. This data reflects the importance of expert centers for the diagnosis, cardiac evaluation and family screening.