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Contribution of Sarcomere Gene Mutations to Left Atrial Function in Patients With Hypertrophic Cardiomyopathy
Eui-Young Choi
Professor of Internal Medicine Division of Cardiology, Heart Center Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-Ro, Gangnam-Gu, Seoul 06273, Republic of Korea
Corresponding Author
ORCiD: https://orcid.org/0000-0003-3732-0190
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published version at Cardiovascular Ultrasound.
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.
Keywords
hypertrophic cardiomyopathy, genetic mutation, left atrial function
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CURRENT STATUS: Published
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Posted 27 Oct, 2020
Published
On 06 Jan, 2021
No community comments so far
Editorial decision: Major revision
On 08 Nov, 2020
Review #1 received
Received 07 Nov, 2020
Review #2 received
Received 30 Oct, 2020
Reviewer #2 agreed
On 24 Oct, 2020
Reviewers invited
Invitations sent on 21 Oct, 2020
Reviewer #1 agreed
On 21 Oct, 2020
Editor assigned
On 20 Oct, 2020
First submitted
On 19 Oct, 2020
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On 19 Oct, 2020
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Subject Areas
Cardiac & Cardiovascular Systems
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This preprint is under consideration at Cardiovascular Ultrasound. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research
Contribution of Sarcomere Gene Mutations to Left Atrial Function in Patients With Hypertrophic Cardiomyopathy
Eui-Young Choi
Professor of Internal Medicine Division of Cardiology, Heart Center Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-Ro, Gangnam-Gu, Seoul 06273, Republic of Korea
Corresponding Author
ORCiD: https://orcid.org/0000-0003-3732-0190
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
Version 1
Posted 27 Oct, 2020
Published
On 06 Jan, 2021
No community comments so far
Editorial decision: Major revision
On 08 Nov, 2020
Review #1 received
Received 07 Nov, 2020
Review #2 received
Received 30 Oct, 2020
Reviewer #2 agreed
On 24 Oct, 2020
Reviewers invited
Invitations sent on 21 Oct, 2020
Reviewer #1 agreed
On 21 Oct, 2020
Editor assigned
On 20 Oct, 2020
First submitted
On 19 Oct, 2020
Submission checks complete
On 19 Oct, 2020
Editor invited
On 19 Oct, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Cardiac & Cardiovascular Systems
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published version at Cardiovascular Ultrasound.
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