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Evaluation of Left Ventricular Structure and Function using 3D Echocardiography
Published on: October 28, 2020
Left Atrial structure and function in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left
Hoshang Farhad1, Sara B Seidelmann1, Davis Vigneault2
1Non-Invasive Cardiovascular Imaging Program and the Cardiovascular Division, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, 75 Francis St, Boston, MA, 02115, USA.
Insights
Left atrial (LA) dysfunction is evident in preclinical hypertrophic cardiomyopathy (HCM) mutation carriers, even before left ventricular hypertrophy (LVH) develops. Impaired LA function worsens with disease progression and cardiac fibrosis in overt HCM.
Area of Science:
- Cardiology
- Cardiovascular Imaging
- Genetics
Background:
- Impaired left atrial (LA) function is an early indicator of cardiac dysfunction and a predictor of adverse cardiac events.
- Hypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease characterized by thickening of the left ventricle (LV).
- Assessing LA structure and function in HCM mutation carriers is crucial for understanding disease progression.
Purpose of the Study:
- To evaluate left atrial (LA) structure and function in individuals with a sarcomere mutation associated with hypertrophic cardiomyopathy (HCM).
- To compare LA function in mutation carriers with and without left ventricular hypertrophy (LVH).
- To identify early markers of cardiac dysfunction in preclinical HCM.
Main Methods:
- Cardiovascular magnetic resonance (CMR) imaging was used to assess 73 participants from the HCMNet study.
- Participants included overt HCM mutation carriers (n=34), preclinical mutation carriers (n=24), and healthy familial controls (n=15).
- LA volumes, LA total emptying function, and LA passive emptying function were analyzed and correlated with LV mass, septal thickness, and NT-proBNP levels.
Main Results:
- Left atrial (LA) volumes were comparable across preclinical, control, and overt HCM groups after covariate adjustment.
- Impaired LA total emptying function was observed in both preclinical (64±8%) and overt HCM (59±10%) compared to controls (70±7%).
- LA passive emptying function was reduced in overt HCM (35±11%) versus controls (47±10%), and correlated inversely with late gadolinium enhancement (LGE), LV mass, septal thickness, and NT-proBNP.
Conclusions:
- Left atrial (LA) dysfunction is detectable by CMR in preclinical HCM mutation carriers, even with normal LV wall thickness and LA volume.
- LA function is most impaired in patients with overt HCM and significant LV fibrosis (LGE).
- These findings highlight LA dysfunction as an early manifestation of HCM and a potential marker for disease severity.
Background:
Impaired left atrial (LA) function is an early marker of cardiac dysfunction and predictor of adverse cardiac events. Herein, we assess LA structure and function in hypertrophy in hypertrophic cardiomyopathy (HCM) sarcomere mutation carriers with and without left ventricular hypertrophy (LVH).
Method:
Seventy-three participants of the HCMNet study who underwent cardiovascular magnetic resonance (CMR) imaging were studied, including mutation carriers with overt HCM (n = 34), preclinical mutation carriers without HCM (n = 24) and healthy, familial controls (n = 15).
Results:
LA volumes were similar between preclinical, control and overt HCM cohorts after covariate adjustment. However, there was evidence of impaired LA function with decreased LA total emptying function in both preclinical (64 ± 8%) and overt HCM (59 ± 10%), compared with controls (70 ± 7%; p = 0.002 and p = 0.005, respectively). LA passive emptying function was also decreased in overt HCM (35 ± 11%) compared with controls (47 ± 10%; p = 0.006). Both LAtotal emptying function and LA passive emptying function were inversely correlated with the extent of late gadolinium enhancement (LGE; p = 0.005 and p < 0.05, respectively), LV mass (p = 0.02 and p < 0.001) and interventricular septal thickness (p < 0.001 for both) and serum NT-proBNP levels (p < 0.001 for both).
Conclusion:
LA dysfunction is detectable by CMR in preclinical HCM mutation carriers despite non-distinguishable LV wall thickness and LA volume. LA function appears most impaired in subjects with overt HCM and a greater extent of LV fibrosis.
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