The value of electrocardiography and echocardiography in distinguishing Fabry disease from sarcomeric hypertrophic cardiomyopathy.

BACKGROUND: Screening for Fabry disease is sub-optimal in non-specialised centres. AIM: To assess the diagnostic value of electrocardiographic scores of left ventricular hypertrophy and a combined electrocardiographic and echocardiographic model in Fabry disease. METHODS: We retrospectively reviewed the electrocardiograms and echocardiograms of 61 patients (mean age 55.6±11.5 years; 57% men) with Fabry disease and left ventricular hypertrophy, and compared them with those from 59 patients (mean age 44.8±18.3 years; 66% men) with sarcomeric hypertrophic cardiomyopathy. Six electrocardiography criteria for left ventricular hypertrophy were specifically analysed: Sokolow-Lyon voltage index; Cornell voltage index; Gubner index; Romhilt-Estes score; Sokolow-Lyon product (voltage index×QRS duration); and Cornell product (voltage index×QRS duration). RESULTS: Right bundle branch block was more frequent in patients with Fabry disease (54% vs. 22%; P=0.001). QRS duration, Gubner score and Sokolow-Lyon product were significantly higher in patients with Fabry disease. Maximal wall thickness was higher in patients with sarcomeric hypertrophic cardiomyopathy (21.9±5.1 vs. 15.5±2.9mm; P<0.001). Indexed sinus of Valsalva diameter was larger in patients with Fabry disease. After multivariable analysis, right bundle branch block, Sokolow-Lyon product, maximal wall thickness and aortic diameter were independently associated with Fabry disease. A model including these four variables yielded an area under the receiver operating characteristic curve of 0.918 (95% confidence interval 0.868-0.968) for Fabry disease. CONCLUSION: Our model combining easy-to-assess electrocardiographic and echocardiographic variables may be helpful in improving screening and reducing diagnosis delay in Fabry disease.

Prevalence and significance of fragmented QRS complex in lead V1 on the surface electrocardiogram of healthy athletes.

AIMS: Limited data exist concerning fragmented QRS complexes (fQRSs) on the surface electrocardiogram (ECG) of apparently healthy athletes. We aimed to study the prevalence and significance of fQRS in lead V1 (fQRSV1), representing right ventricular (RV) activation, regarding training-induced RV morphological remodelling. METHODS AND RESULTS: Between January 2017 and August 2019, 434 consecutive non-sedentary subjects underwent preparticipation cardiovascular screening, including a 12-lead ECG. Three hundred and ninety-three apparently healthy subjects were included, 119 of them were athletes (defined as performing ≥8 h/week for the last 6 months) and 274 were non-athletes. All athletes underwent two-dimensional transthoracic echocardiography. Fragmented QRS complex in lead V1 pattern was defined as a narrow (<120 ms) and quadriphasic QRS complex in lead V1. Fragmented QRS complex in lead V1 was more frequent in athletes compared with non-athletes (22% vs. 5.1%, P < 0.001) and was independently associated with the athlete status [adjusted odds ratio (aOR) = 4.693, 95% confidence interval (95% CI) 2.299-9.583; P < 0.001], the endurance category (aOR = 2.522, 95% CI 1.176-5.408; P = 0.017), and age (aOR = 0.962, 95% CI 0.934-0.989; P = 0.007) in multivariate analysis. In the subgroup of athletes, fQRSV1 was independently associated with mean RV outflow tract diameter (aOR = 1.458, 95% CI 1.105-1.923; P = 0.008) and age (aOR = 0.941, 95% CI 0.894-0.989; P = 0.017) in multivariate analysis. CONCLUSION: Fragmented QRS complex in lead V1 is a newly described, frequent, ECG pattern in young and apparently healthy athletes and is associated with training-induced RV remodelling.