Value of Electrocardiography to Distinguish Fabry Disease from Sarcomeric Hypertrophic Cardiomyopathy

Am J Cardiol. 2022 Sep 1;178:131-136. doi: 10.1016/j.amjcard.2022.05.021. Epub 2022 Jul 6.


Fabry disease (FD) is a rare genetic disorder that leads to left ventricular hypertrophy (LVH), frequently misdiagnosed as hypertrophic cardiomyopathy (HCM). We sought to assess the value of electrocardiography for distinguishing FD from HCM. We retrospectively reviewed and compared standard electrocardiograms and echocardiograms from 26 patients with FD and LVH and 33 sarcomeric patients with HCM, matched for gender, age, and degree of LVH. The mean age of patients with FD was 46 years (interquartile range) (28 to 53) and of HCM 50 (30 to 61) years (p = 0.27). Of them, 16 (61%) and 25 (76%) were male, respectively (p = 0.26). Indexed left ventricular mass was 166 g/m2 in FD versus 181 g/m2 in HCM (p = 0.88). All patients with FD and 30 (91%) with HCM were in sinus rhythm (p = 0.25). A higher prevalence of right bundle branch block (RBBB) was observed in FD (27%) versus HCM (6%) (p = 0.03). The PR interval was shorter in FD, 140 ms (120-160) versus 160 ms (140 to 180) (p = 0.004). P-wave duration was longer in patients with FD, 100 ms (80 to 120) versus 80 ms (80 to 100) (p = 0.01). The PQ interval (PR interval minus P-wave duration) was shorter in patients with FD, 40 ms (20 to 45) versus 80 ms (40 to 80) (p = 0.001). There were no differences regarding P-wave amplitude, QRS complex duration, corrected QT length, conduction or repolarization abnormalities, Sokolow-Lyon index, and Cornell index. After multivariate adjustments for RBBB, PR interval, P-wave duration, and PQ interval, a PQ interval ≤40 ms and RBBB were significantly associated with FD. In conclusion, there are electrocardiogram characteristics, such as the presence of RBBB or a PQ interval ≤40 ms, that may be helpful for screening and reducing the delay in FD diagnosis.

MeSH terms

  • Adult
  • Bundle-Branch Block
  • Cardiomyopathy, Hypertrophic* / diagnosis
  • Electrocardiography
  • Fabry Disease* / complications
  • Fabry Disease* / diagnosis
  • Female
  • Humans
  • Hypertrophy, Left Ventricular / diagnosis
  • Male
  • Middle Aged
  • Retrospective Studies