Significance of echocardiography in distinguishing between Fabry disease and hypertrophic cardiomyopathy_West China Medical Journal

Authors：

FAN Chong ¹ , PEI Leilei ² , WANG Shun ¹ , TIAN Yuling ¹ , YANG Chun ¹ ,  ZHUO Xiaozhen ¹

1. Department of Cardiovascular Medicine, the First Affiliated Hospital of Xi’an Jiaotong University, Xi’an, Shaanxi 710061, P. R. China;
2. School of Public Health, Xi’an Jiaotong University, Xi’an, Shaanxi 710061, P. R. China;

Corresponding author：

ZHUO Xiaozhen, Email: imxiaozhen@163.com

Keywords：

Hypertrophic cardiomyopathy; Fabry disease; speckle tracking imaging; echocardiography

DOI：

10.7507/1002-0179.202410112

Video：

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Objective To explore the application value of echocardiography in the differential diagnosis of Fabry disease and hypertrophic cardiomyopathy (HCM). Methods Baseline data and echocardiographic parameters of Fabry disease patients and HCM patients admitted to the First Affiliated Hospital of Xi’an Jiaotong University between January 2022 and January 2024 were selected and compared between groups. The diagnostic ability for Fabry disease and HCM was analyzed using receiver operating characteristic curves and area under the curve (AUC). Results A total of 16 Fabry disease patients and 41 HCM patients were included. The Fabry disease group had lower age, body mass index, proportion of electrocardiogram abnormalities, and smoking history than the HCM group (P<0.05); the Fabry disease group had a longer medical history than the HCM group (P<0.05). The maximum thickness of the left ventricular myocardium and the ascending aortic diameter in the Fabry group were both smaller than those in the HCM group (P<0.05). The e-peak velocity in the Fabry group was greater than that in the HCM group (P<0.05). For the differential diagnosis of Fabry disease and HCM, the AUC for the e-peak velocity was 0.698 [95% confidence interval (0.502, 0.894), P<0.05], sensitivity was 41.7%, specificity was 100%, and Youden index was 41.7%. When the three factors were combined, both sensitivity and accuracy were significantly higher than the e-peak. The AUC was 0.773 [95% confidence interval (0.585, 0.961), P<0.05], with a sensitivity of 100% and specificity of 45.5%. There were no statistically significant differences in the 2D-speckle tracking imaging echocardiography parameters between the two groups, including global longitudinal strain of the left ventricle, strain of the apical segment, strain of the basal segment, and so on (P>0.05). Conclusion Echocardiography may have certain significance in the diagnosis of Fabry disease and HCM.

Citation： FAN Chong, PEI Leilei, WANG Shun, TIAN Yuling, YANG Chun, ZHUO Xiaozhen. Significance of echocardiography in distinguishing between Fabry disease and hypertrophic cardiomyopathy. West China Medical Journal, 2025, 40(1): 55-59. doi: 10.7507/1002-0179.202410112 Copy

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2.	Linhart A, Kampmann C, Zamorano JL, et al. Cardiac manifestations of Anderson Fabry disease: results from the international Fabry outcome survey. Eur Heart J, 2007, 28(10): 1228-1235.
3.	Ommen SR, Mital S, Burke MA, et al. 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. J Am Coll Cardiol, 2020, 76(25): 3022-3055.
4.	Elliott PM, Anastasakis A, Borger MA, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the task force for the diagnosis and management of hypertrophic cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J, 2014, 35(39): 2733-2779.
5.	Terryn W, Cochat P, Froissart R, et al. Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European renal best practice. Nephrol Dial Transplant, 2013, 28(3): 505-517.
6.	国家心血管病中心心肌病专科联盟, 中国医疗保健国际交流促进会心血管病精准医学分会, “中国成人肥厚型心肌病诊断与治疗指南 2023”专家组. 中国成人肥厚型心肌病诊断与治疗指南 2023. 中国循环杂志, 2023, 38(1): 1-33.
7.	Mitchell C, Rahko PS, Blauwet LA, et al. Guidelines for performing a comprehensive transthoracic echocardiographic examination in adults: recommendations from the American Society of Echocardiography. J Am Soc Echocardiogr, 2019, 32(1): 1-64.
8.	Petersen SE, Jensen B, Aung N, et al. Excessive trabeculation of the left ventricle: JACC: cardiovascular imaging expert panel paper. JACC Cardiovascular Imaging, 2023, 16(3): 408-425.
9.	中国法布雷病专家协作组. 中国法布雷病诊疗专家共识(2021 年版). 中华内科杂志, 2021, 60(4): 321-330.
10.	Ranjbarvaziri S, Kooiker KB, Ellenberger M, et al. Altered cardiac energetics and mitochondrial dysfunction in hypertrophic cardiomyopathy. Circulation, 2021, 144(21): 1714-1731.
11.	Germain DP, Fouilhoux A, Decramer S, et al. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients. Clin Genet, 2019, 96(2): 107-117.
12.	Laney DA, Peck DS, Atherton AM, et al. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med, 2015, 17(5): 323-330.
13.	Mehta A, Clarke JT, Giugliani R, et al. Natural course of Fabry disease: changing pattern of causes of death in FOS-Fabry Outcome Survey. J Med Genet, 2009, 46(8): 548-552.
14.	赵晴晴, 丛舒, 樊静, 等. 2019-2020 年中国 40 岁及以上人群吸烟状况分析. 中华流行病学杂志, 2023, 44(5): 735-742.
15.	McLeod CJ, Ackerman MJ, Nishiimura RA, et al. Outcome of patients with hypertrophic cardiomyopathy and a normal electrocardiogram. J Am Coll Cardiol, 2009, 54(3): 229-233.
16.	Monserrat L, Elliott PM, Gimeno JR, et al. Non-sustained ventricular tachycardia in hypertrophic cardiomyopathy: an independent marker of sudden death risk in young patients. J Am Coll Cardiol, 2003, 42(5): 873-879.
17.	Adabag AS, Casey SA, Kuskowski MA, et al. Spectrum and prognostic significance of arrhythmias on ambulatory holter electrocardiogram in hypertrophic cardiomyopathy. J Am Coll Cardiol, 2005, 45(5): 697-704.
18.	Olivotto L, Cecchi F, Casey SA, et al. Impact of atrial fibrillation on the clinical course of hypertrophic cardiomyopathy. Circulation, 2001, 104(21): 2517-2524.
19.	田庄, 郭潇潇. 溶酶体贮积病累及心脏的临床表现. 中华临床医师杂志(电子版), 2013, 7(13): 6066-6068.
20.	Pieroni M, Moon JC, Arbustini E, et al. Cardiac involvement in Fabry disease: JACC review topic of the week. J Am Coll Cardiol, 2021, 77(7): 922-936.
21.	中国医师协会心力衰竭专业委员会, 中华心力衰竭和心肌病杂志编辑委员会. 心力衰竭容量管理中国专家建议. 中华心力衰竭和心肌病杂志, 2018, 2(1): 8-16.
22.	Krämer J, Niemann M, Liu D, et al. Two-dimensional speckle trac-king as a non-invasive tool for identification of myocardial fibrosis in Fabry disease. Eur Heat J, 2013, 34(21): 1587-1596.
23.	Labombarda F, Saloux E, Milesi G, et al. Loss of base-to-apex circumferential strain gradient: a specific pattern of Fabry cardiomyopathy?. Echocardiography, 2017, 34(4): 504-510.
24.	胡艺川, 尹立雪, 王志刚. 超声心动图在法布里病早期诊断中的应用. 中华超声影像学杂志, 2013, 22(7): 626-629.

1. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med, 2003, 138(4): 338-346.
2. Linhart A, Kampmann C, Zamorano JL, et al. Cardiac manifestations of Anderson Fabry disease: results from the international Fabry outcome survey. Eur Heart J, 2007, 28(10): 1228-1235.
3. Ommen SR, Mital S, Burke MA, et al. 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. J Am Coll Cardiol, 2020, 76(25): 3022-3055.
4. Elliott PM, Anastasakis A, Borger MA, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the task force for the diagnosis and management of hypertrophic cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J, 2014, 35(39): 2733-2779.
5. Terryn W, Cochat P, Froissart R, et al. Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European renal best practice. Nephrol Dial Transplant, 2013, 28(3): 505-517.
6. 国家心血管病中心心肌病专科联盟, 中国医疗保健国际交流促进会心血管病精准医学分会, “中国成人肥厚型心肌病诊断与治疗指南 2023”专家组. 中国成人肥厚型心肌病诊断与治疗指南 2023. 中国循环杂志, 2023, 38(1): 1-33.
7. Mitchell C, Rahko PS, Blauwet LA, et al. Guidelines for performing a comprehensive transthoracic echocardiographic examination in adults: recommendations from the American Society of Echocardiography. J Am Soc Echocardiogr, 2019, 32(1): 1-64.
8. Petersen SE, Jensen B, Aung N, et al. Excessive trabeculation of the left ventricle: JACC: cardiovascular imaging expert panel paper. JACC Cardiovascular Imaging, 2023, 16(3): 408-425.
9. 中国法布雷病专家协作组. 中国法布雷病诊疗专家共识(2021 年版). 中华内科杂志, 2021, 60(4): 321-330.
10. Ranjbarvaziri S, Kooiker KB, Ellenberger M, et al. Altered cardiac energetics and mitochondrial dysfunction in hypertrophic cardiomyopathy. Circulation, 2021, 144(21): 1714-1731.
11. Germain DP, Fouilhoux A, Decramer S, et al. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients. Clin Genet, 2019, 96(2): 107-117.
12. Laney DA, Peck DS, Atherton AM, et al. Fabry disease in infancy and early childhood: a systematic literature review. Genet Med, 2015, 17(5): 323-330.
13. Mehta A, Clarke JT, Giugliani R, et al. Natural course of Fabry disease: changing pattern of causes of death in FOS-Fabry Outcome Survey. J Med Genet, 2009, 46(8): 548-552.
14. 赵晴晴, 丛舒, 樊静, 等. 2019-2020 年中国 40 岁及以上人群吸烟状况分析. 中华流行病学杂志, 2023, 44(5): 735-742.
15. McLeod CJ, Ackerman MJ, Nishiimura RA, et al. Outcome of patients with hypertrophic cardiomyopathy and a normal electrocardiogram. J Am Coll Cardiol, 2009, 54(3): 229-233.
16. Monserrat L, Elliott PM, Gimeno JR, et al. Non-sustained ventricular tachycardia in hypertrophic cardiomyopathy: an independent marker of sudden death risk in young patients. J Am Coll Cardiol, 2003, 42(5): 873-879.
17. Adabag AS, Casey SA, Kuskowski MA, et al. Spectrum and prognostic significance of arrhythmias on ambulatory holter electrocardiogram in hypertrophic cardiomyopathy. J Am Coll Cardiol, 2005, 45(5): 697-704.
18. Olivotto L, Cecchi F, Casey SA, et al. Impact of atrial fibrillation on the clinical course of hypertrophic cardiomyopathy. Circulation, 2001, 104(21): 2517-2524.
19. 田庄, 郭潇潇. 溶酶体贮积病累及心脏的临床表现. 中华临床医师杂志(电子版), 2013, 7(13): 6066-6068.
20. Pieroni M, Moon JC, Arbustini E, et al. Cardiac involvement in Fabry disease: JACC review topic of the week. J Am Coll Cardiol, 2021, 77(7): 922-936.
21. 中国医师协会心力衰竭专业委员会, 中华心力衰竭和心肌病杂志编辑委员会. 心力衰竭容量管理中国专家建议. 中华心力衰竭和心肌病杂志, 2018, 2(1): 8-16.
22. Krämer J, Niemann M, Liu D, et al. Two-dimensional speckle trac-king as a non-invasive tool for identification of myocardial fibrosis in Fabry disease. Eur Heat J, 2013, 34(21): 1587-1596.
23. Labombarda F, Saloux E, Milesi G, et al. Loss of base-to-apex circumferential strain gradient: a specific pattern of Fabry cardiomyopathy?. Echocardiography, 2017, 34(4): 504-510.
24. 胡艺川, 尹立雪, 王志刚. 超声心动图在法布里病早期诊断中的应用. 中华超声影像学杂志, 2013, 22(7): 626-629.

West China Medical Journal

Significance of echocardiography in distinguishing between Fabry disease and hypertrophic cardiomyopathy

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