Contribution of Sarcomere Gene Mutations to Left Atrial Function in Patients With Hypertrophic Cardiomyopathy
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: 212 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.
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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Posted 27 Oct, 2020
On 06 Jan, 2021
On 08 Nov, 2020
Received 07 Nov, 2020
Received 30 Oct, 2020
On 24 Oct, 2020
Invitations sent on 21 Oct, 2020
On 21 Oct, 2020
On 20 Oct, 2020
On 19 Oct, 2020
On 19 Oct, 2020
On 19 Oct, 2020
Contribution of Sarcomere Gene Mutations to Left Atrial Function in Patients With Hypertrophic Cardiomyopathy
Posted 27 Oct, 2020
On 06 Jan, 2021
On 08 Nov, 2020
Received 07 Nov, 2020
Received 30 Oct, 2020
On 24 Oct, 2020
Invitations sent on 21 Oct, 2020
On 21 Oct, 2020
On 20 Oct, 2020
On 19 Oct, 2020
On 19 Oct, 2020
On 19 Oct, 2020
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: 212 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.
Conclusions: PSM was related to LA dysfunction independent of LV filling pressure and LAVI, suggesting its contribution to atrial myopathy in HCM.
Figure 1
Figure 2
Figure 3