Relations between right ventricular morphology and clinical, electrical and genetic parameters in Brugada Syndrome

PLoS One. 2018 Apr 13;13(4):e0195594. doi: 10.1371/journal.pone.0195594. eCollection 2018.


Background: Increasing evidence suggests the presence of structural changes affecting the right ventricular outflow tract (RVOT) in patients with Brugada Syndrome (BrS). The aim of this study was to characterise the RV morphology in BrS and explore associations between morphologic, clinical, electrical, and genetic parameters using non-invasive multimodality testing.

Methods: Consecutive BrS patients (recruited 2013-2015) underwent clinical assessment, dedicated RV imaging using cardiac magnetic resonance (CMR) imaging (unless contra-indicated), electrical assessment (electrocardiogram, Holter monitoring, signal-averaged ECG[SAECG]) and genotyping. Morphologic data were compared to matched control and unmatched ARVC (arrhythmogenic right ventricular cardiomyopathy) cohorts, and potential associations between morphologic parameters and other variables were explored.

Results: BrS patients (n = 42, male 86%, age 46±12 years) exhibited normal global RV volume and function, comparable to control, in contrast to significantly larger, impaired RVs in ARVC cohort (RVESV p = 0.0001; RVEDV p<0.0001, RVEF p = 0.002). Compared with control, BrS patients exhibited larger RVOT volumes (7.4 ± 0.7 vs 5.8 ± 0.7 mL/m2, p<0.0001) and wall motion abnormalities (RWMA) (31% vs 0%, p = 0.005); compared with ARVC cohort, the RVOT volumes were similar (7.4 ± 0.7 vs, 8.1 ± 1.7, p = 0.52) and there were less RWMA (31% vs 76%, p = 0.01). Overall 67% BrS patients had abnormal RVOT morphology. Patients with abnormal RVOT tended to be older (48 ± 12 y vs 41 ± 12y, p = 0.06). Rare genetic variants were only observed in patients with abnormal RVOT morphology (36% vs 0%, p = 0.02).

Conclusions: Patients with BrS frequently exhibit structural abnormalities localised to the RVOT and these changes may be age- and gene-dependent.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brugada Syndrome / diagnostic imaging
  • Brugada Syndrome / pathology*
  • Brugada Syndrome / physiopathology*
  • Electrocardiography
  • Electrophysiological Phenomena*
  • Female
  • Heart Ventricles / pathology*
  • Heart Ventricles / physiopathology*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged

Grant support

BG is the recipient of a Heart Foundation Health Professionals PhD Scholarship (#100294). JI is the recipient of a National Heart Foundation of Australia Future Leader Fellowship (#100833). CS is the recipient of a National Health and Medical Research Council (NHMRC) Practitioner Fellowship (#1059156). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.