Patient in their 40s with unexplained myocardial hypertrophy

Clinical introduction A patient in their 40s was referred for unexplained left ventricular hypertrophy (LVH). ECG revealed sinus rhythm, complete right bundle branch block and left ventricular (LV) high voltage. Echocardiography revealed thickened interventricular septum and LV apex. Cardiac magnetic resonance (CMR) demonstrated LVH (the maximum thickness=15.6 mm) (figure 1A,B), the patchy late gadolinium enhancement (LGE) was located in basal inferolateral wall (figure 1C,D) without oedema (figure 1E,F), septal native T1 (1203 ms) and extracellular volume (27.0%) were within the normal range (figure 1G,H). The whole exome sequencing and Sanger confirmation were performed, genetic analysis demonstrated GNAT1 mutation (c.143A>G, p.Q48R) with insufficient evidence of pathogenicity. Laboratory tests found a slightly elevated level of cardiac troponin T (14.9 ng/L (reference: 0–14 ng/L)), a low level of α-galactosidase A (GLA) (1.45 µmol/L/hour (reference: 2.4–17.65 µmol/L/hour)) and high level of globotriaosylsphingosine (lyso-Gb3) (4.94 ng/mL (reference: <1.11 ng/mL)) in serum. ...

Source: Heart - August 11, 2023 Category: Cardiology Authors: Xu, Z., Gong, C., Chen, Y. Tags: Image challenges Source Type: research