Akademik Veri Yönetim Sistemi
37. uluslararası katılımlı türk kardiyoloji kongresi, Antalya, Türkiye, 18 - 21 Kasım 2021, ss.119, (Özet Bildiri)
Fabry disease is a progressive and rare storage disease that occurs due to low or complete deficiency of lysosomal alpha galactosidase-A enzyme activity. Low alpha galactosidase-A (α-GLA) enzyme activity causes progressive accumulation of globotriacylceramide in various tissues and organs including the myocardium, kidney and nervous system. Left ventricular hypertrophy (LVH) is the most common cause of cardiac involvement in patients with Fabry disease. Over a thousand different mutations have been identified in the GLA gene up to now. A 54-year-old male patient had been followed for 16 years due to hypertrophic cardiomyopathy. He was admitted to our clinic with increased exertional dyspnoea for the last two months. The patient’s medical history was notable for longstanding, hypertrophic cardiomyopathy. Blood testing was notable for a creatinine of 1.48 mg/dl (estimated glomerular filtration rate 48 ml/min/1.73 m2), and N-terminal pro–B-type natriuretic peptide (NT-proBNP) and high-sensitive cardiac troponin (hs-cTn) levels elevated to 1240 pg/ml (0 to 157 pg/ml) and 0.129 ng/mL (normal range <0.014). The electrocardiography demonstrated left ventricular hypertrophy. Transthoracic echocardiography showed normal left ventricular ejection fraction of 60%, concentric hypertrophy involving particularly the mid and apical portions of the left ventricle, as well as right ventricular free wall along with thickening of the mitral and aortic valves resulting in mild valvular regurgitation. In the apical 4-chamber view, the hyperechogenic endocardium and the hypoechogenic thin border between the myocardium and the endocardium in the interventricular septum is defined as the “binary sign” (Figure 1). Cardiac magnetic resonance imaging (MRI) and genetic testing were planned in order to elucidate the unexplained left ventricular hypertrophy. The common gene panel in patients with hypertrophic cardiomyopathy was screened. In genetic analysis (NM_000169.2:c.659G>T (p.R220L) (p.Arg220Leu) mutation was detected in GLA gene. Missense mutations are frequent in Fabry disease cases. Due to all of these findings, this variant was evaluated as a “likely pathogenic” variant due to American College of Medical Genetics (ACMG) criteria. We found that α-GLA enzyme level of 2.50 nmol / mg / h (normal range, > 23.10) was significantly low and Lyso-gb3 10.40 ng / mL (normal range, <1.30) levels were high. The index case had 3 boys, family screening could not be done from children. Relatives and siblings of the patient did not agree to genetic screening. Cardiac MRI showed left ventricular hypertrophy; vertical long axis, and midventricular short-axis late gadolinium-enhanced images demonstrated extensive anterior and inferolateral wall segment enhancement. Horizontal long axis pre-contrast T1 map: The ROI measured at the inferolateral wall shows reduced T1 value (959 ms)