Key result
Pathogenic sarcomere mutations in HCM are linked to ~7% lower LA total emptying fraction.
Why the study?
Left atrial enlargement and dysfunction relate to clinical course in HCM, but the genetic contribution to LA structural and functional remodeling remains to be investigated.
Does the presence of pathogenic sarcomere gene mutations affect left atrial function in patients with hypertrophic cardiomyopathy?
Cross-Sectional (n=242)
No
Does the presence of pathogenic sarcomere gene mutations affect left atrial function in patients with hypertrophic cardiomyopathy?
Absolute Event Rate: 37% vs 44.2%
p-value: p=0.025
Pathogenic sarcomere gene mutations in HCM are independently associated with left atrial dysfunction, suggesting a direct contribution to atrial myopathy.
Hypothesis-generating for sarcomere mutation effects on LA function in HCM; prospective studies needed before clinical adoption.
BACKGROUND: Left atrial (LA) enlargement and dysfunction are related to clinical course in patients with hypertrophic cardiomyopathy (HCM). We aimed to investigate genetic contribution to LA structural and functional remodeling. METHODS: Two hundred twelve patients were consecutively enrolled, and echocardiography and extensive genetic analysis were performed. Cardiac magnetic resonance (CMR) was performed in 135 patients. Echocardiography was also performed in controls (n = 30). RESULTS: Patients with HCM had lower late-diastolic mitral annular velocity (a') and higher LA volume index (LAVI) than controls. Patients with pathogenic or likely pathogenic sarcomere gene mutations (PSM, n = 67, 32%) had higher LAVI and lower CMR-derived LA total emptying fraction (37.0 ± 18.5 vs. 44.2 ± 12.4%, p = 0.025). In patients without AF (n = 187), the PSM had lower a' (6.9 ± 2.0 vs. 7.8 ± 1.9 cm/s, p = 0.004) than others. The PSM had higher prevalence and amount of late gadolinium enhancement (LGE) in the left ventricle (LV). In multivariate analysis, PSM was significantly related to lower a' independent of E/e', LV mass index, and LAVI. However, the relation significantly attenuated after adjustment for the extent of LGE in the LV, suggesting common myopathy in the LV and LA. In addition, PSM was significantly related to lower LA total emptying fraction independent of age, E/e', s', LV ejection fraction, LV myocardial global longitudinal strain and %LGE mass. CONCLUSIONS: PSM was related to LA dysfunction independent of LV filling pressure and LAVI, suggesting its contribution to atrial myopathy in HCM.
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Chung et al. (2021) conducted a cross-sectional in Hypertrophic cardiomyopathy (n=242). Pathogenic or likely pathogenic sarcomere gene mutations vs. Absence of sarcomere gene mutations was evaluated on Left atrial total emptying fraction (p=0.025). Pathogenic sarcomere gene mutations in patients with hypertrophic cardiomyopathy were associated with significantly lower left atrial total emptying fraction (37.0% vs 44.2%) compared to those without mutations.
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