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Prevalence of Fabry disease in patients with hypertrophic cardiomyopathy
Session:
Posters 4 - Écran 09 - Miocárdio e Pericárdio
Speaker:
Olga Azevedo
Congress:
CPC 2018
Topic:
F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme:
17. Myocardial Disease
Subtheme:
17.2 Myocardial Disease – Epidemiology, Prognosis, Outcome
Session Type:
Posters
FP Number:
---
Authors:
Olga Azevedo; Nuno Marques; Liliana Reis; Ana Catarina Gomes; Emanuel Correia; Kevin Domingues; Rui Pontes dos Santos; Rui Azevedo Guerreiro; Ricardo Faria; Rui Lima; Catarina Ruivo; Renata Gomes
Abstract
<p>Introduction: The prevalence of Fabry disease (FD) in patients with hypertrophic cardiomyopathy (HCM) is not clear. Previous studies have reported different results due to different inclusion criteria, study designs and screening methods and to the frequency of genetic variants of uncertain significance (GVUS). Recent studies have reported a prevalence of 0.5-1%.</p> <p>Objective: To determine the prevalence of FD in patients with HCM</p> <p>Methods: Multicenter nationwide study including 12 hospital centers. We included all patients with HCM (left ventricular wall thickness ≥15mm). We evaluated demographic, clinical, electrocardiographic and cardiac imaging data. FD screening was performed by dried blood spot test with quantification of enzymatic activity of alpha-galactosidase A in males and also molecular analysis in females.</p> <p>Results: This study included so far 784 patients with HCM, predominantly males (60%), with mean age 63±15 years. The pattern of HCM was asymmetric (65%), symmetrical (20%), apical (13%) or other (2%). The thickness of the interventricular septum was 18±4mm and posterior wall 11±3mm. LV mass was 173±83g/m2 and ejection fraction 64±10%. Obstruction at rest was detected in 29% and diastolic dysfunction in 80%. Cardiac MR detected late gadolinium enhancement in 57% of cases. Sarcomeric gene mutations were detected in 25% of patients.</p> <p>The screening of 784 patients with HCM identified 38 patients with genetic variants of the GLA gene (4,8%): 31 patients with pathogenic mutations of FD (3,9%), 4 with GVUS (0.5%) and 3 with a variant associated with enzymatic pseudodeficiency (0,4%).</p> <p>Of the 31 patients with FD, 24 presented the same pathogenic mutation (p.F113L) and were from the same geographic region. A founder effect of FD was documented in this region, which justifies a prevalence of FD in HCM of 3,9%, higher than the one that was recently reported. If we take statistically into account this founder effect, the prevalence of FD in patients with HCM becomes 1,2%, which is consistent with the recent reports.</p> <p>The GVUS included variants already described in the literature whose pathogenic significance is controversial (p.R118C and p.A143T) and variants that were not described yet (p.D175E).</p> <p> </p> <p>Conclusion: In this multicenter nationwide screening study, the prevalence of FD in patients with HCM is 3.9%, higher than recently reported, due to a founder effect of FD in one of the study regions. Considering this founder effect, the prevalence of FD in HCM is 1,2%, which is consistent with the recent epidemiological data. All screenings of FD face the problem of finding GVUS and further studies are needed to clarify its clinical significance.</p>
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