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

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.	國家心血管病中心心肌病專科聯盟, 中國醫療保健國際交流促進會心血管病精準醫學分會, “中國成人肥厚型心肌病診斷與治療指南 2023”專家組. 中國成人肥厚型心肌病診斷與治療指南 2023. 中國循環雜志, 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.	中國法布雷病專家協作組. 中國法布雷病診療專家共識(2021 年版). 中華內科雜志, 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.	趙晴晴, 叢舒, 樊靜, 等. 2019-2020 年中國 40 歲及以上人群吸煙狀況分析. 中華流行病學雜志, 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.	田莊, 郭瀟瀟. 溶酶體貯積病累及心臟的臨床表現. 中華臨床醫師雜志(電子版), 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.	中國醫師協會心力衰竭專業委員會, 中華心力衰竭和心肌病雜志編輯委員會. 心力衰竭容量管理中國專家建議. 中華心力衰竭和心肌病雜志, 2018, 2(1): 8-16.
22.	Kr?mer 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.	胡藝川, 尹立雪, 王志剛. 超聲心動圖在法布里病早期診斷中的應用. 中華超聲影像學雜志, 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. 國家心血管病中心心肌病專科聯盟, 中國醫療保健國際交流促進會心血管病精準醫學分會, “中國成人肥厚型心肌病診斷與治療指南 2023”專家組. 中國成人肥厚型心肌病診斷與治療指南 2023. 中國循環雜志, 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. 中國法布雷病專家協作組. 中國法布雷病診療專家共識(2021 年版). 中華內科雜志, 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. 趙晴晴, 叢舒, 樊靜, 等. 2019-2020 年中國 40 歲及以上人群吸煙狀況分析. 中華流行病學雜志, 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. 田莊, 郭瀟瀟. 溶酶體貯積病累及心臟的臨床表現. 中華臨床醫師雜志(電子版), 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. 中國醫師協會心力衰竭專業委員會, 中華心力衰竭和心肌病雜志編輯委員會. 心力衰竭容量管理中國專家建議. 中華心力衰竭和心肌病雜志, 2018, 2(1): 8-16.
22. Kr?mer 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. 胡藝川, 尹立雪, 王志剛. 超聲心動圖在法布里病早期診斷中的應用. 中華超聲影像學雜志, 2013, 22(7): 626-629.

West China Medical Journal

Significance of echocardiography in distinguishing between Fabry disease and hypertrophic cardiomyopathy

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