Key result
Spinal and bulbar muscular atrophy linked to abnormal ECGs and ~74% prevalence of diffuse myocardial fibrosis.
Why the study?
Males with X-linked recessive spinobulbar muscular atrophy are reported to die suddenly and may exhibit a Brugada ECG pattern associated with sudden cardiac death risk.
Do patients with spinal and bulbar muscular atrophy have an increased prevalence of ECG and CMR abnormalities compared to healthy controls?
Cross-Sectional (n=41)
Single-blind
No
Do patients with spinal and bulbar muscular atrophy have an increased prevalence of ECG and CMR abnormalities compared to healthy controls?
Absolute Event Rate: 73.9% vs 9.1%
p-value: p=0.0004
Patients with spinal and bulbar muscular atrophy frequently exhibit abnormal ECGs and structural myocardial abnormalities on CMR, highlighting the need for cardiac screening in this population.
May warrant cardiac screening in spinal and bulbar muscular atrophy; leaves open whether abnormalities predict events or warrant intervention.
Background Males with X-linked recessive spinobulbar muscular atrophy (SBMA) are reported to die suddenly and a Brugada electrocardiography (ECG) pattern may be present. A hallmark of this pattern is the presence of ST segment elevations in right precordial leads associated with an increased risk of sudden cardiac death. Objective We aimed to detect subtle myocardial abnormalities using ECG and cardiovascular magnetic resonance imaging (CMR) in patients with SBMA. Methods 30 SBMA patients (55.7 ± 11.9 years) and 11 healthy male controls underwent 12-lead ECGs were recorded using conventional and modified chest leads. CMR included feature-tracking strain analysis, late gadolinium enhancement and native T1 and T2 mapping. Results Testosterone levels were increased in 6/29 patients. Abnormal ECGs were recorded in 70%, consisting of a Brugada ECG pattern, early repolarization or fragmented QRS. Despite normal left ventricular ejection fraction (66 ± 5%), SBMA patients exhibited more often left ventricular hypertrophy as compared to controls (34.5% vs 20%). End-diastolic volumes were smaller in SBMA patients (left ventricular volume index 61.7 ± 14.7 ml/m2 vs. 79.1 ± 15.5 ml/m2; right ventricular volume index 64.4 ± 16.4 ml/m2 vs. 75.3 ± 17.5 ml/m2). Tissue characterization with T1-mapping revealed diffuse myocardial fibrosis in SBMA patients (73.9% vs. 9.1%, device-specific threshold for T1: 1030 ms). Conclusion SBMA patients show abnormal ECGs and structural abnormalities, which may explain an increased risk of sudden death. These findings underline the importance of ECG screening, measurement of testosterone levels and potentially CMR imaging to assess cardiac risk factors.
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Steinmetz et al. (2022) conducted a cross-sectional in Spinal and bulbar muscular atrophy (n=41). Spinal and bulbar muscular atrophy vs. Healthy male controls was evaluated on Diffuse myocardial fibrosis (abnormal T1 mapping) (p=0.0004). Spinal and bulbar muscular atrophy was associated with a high prevalence of abnormal ECGs (70%) and diffuse myocardial fibrosis on T1-mapping (73.9% vs 9.1% in controls).
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