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肥厚型心肌病

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肥厚型心肌病变
又称hypertrophic cardiomyopathy; asymmetric septal hypertrophy; idiopathic hypertrophic subaortic stenosis;[1] hypertrophic obstructive cardiomyopathy (HOCM)
症状疲劳水肿呼吸困难胸痛晕厥[2]
并发症心脏衰竭心律不整心脏骤停[3][4]
病因遗传学法布瑞氏病弗里德希氏共济失调和某些药物[5][6]
诊断方法心电描记术, 超声心动描记术, 压力测试基因检测[7]
鉴别诊断高血压性心脏病主动脉瓣狭窄运动员心脏症候群英语Athletic heart syndrome[5]
治疗药物、植入式心律去颤器英语Implantable cardioverter-defibrillator、手术[7]
药物β受体阻滞剂维拉帕米丙吡胺[8]
预后每年的死亡率小于 1%(接受治疗的话)[9]
患病率平均每500人一位(0.2%)[8]
分类和外部资源
医学专科心血管内科
ICD-11BC43.1
ICD-9-CM425.11、​425.1
OMIM192600
DiseasesDB6373
MedlinePlus000192
eMedicine152913、​890068、​348503
Orphanet217568、​99739
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肥厚型心肌病心肌病变(英语:hypertrophic cardiomyopathy,缩写:HCM)若出现血流阻塞的症状,也可称为肥厚型阻塞性心肌病hypertrophic obstructive cardiomyopathy,缩写:HOCM)是一种无明显原因但心脏部分肌肉组织增厚心脏病[8]。最常受影响的心脏部位是心室间隔英语Interventricular septum心室英语Ventricular hypertrophy[10],因此心脏无法有效地泵血,也可能造成电传导问题[11]。具体来说,在束支英语Bundle branches中,电通过室间隔传导至浦肯野纤维,因为它们负责两个心室收缩细胞的去极化[12]

症状多样,从无症状到疲劳水肿呼吸困难[13]。也可能造成胸痛晕厥[13]。脱水时症状可能恶化[10]。并发症包括心脏衰竭心律不整心源性猝死[3][4]

最常见的病因是遗传[6],属于体染色体显性遗传[10]。制造心肌蛋白相关的某些基因发生突变[6]。造成左心室肥大的其它病因,与遗传有关的包括法布瑞氏病弗里德希氏共济失调[5]。其它非遗传病因包括运动员心脏症候群英语Athletic heart syndrome高血压和某些药物(如:他克莫司[10]。诊断通常需根据家族病史英语Family history (medicine)谱系心电图超声心动图压力测试[7]。也能进行基因检测确认[7]。肥厚型心肌病与其它遗传性心肌病的遗传方式不同,法布瑞氏病X连锁隐性遗传弗里德希氏共济失调则是体染色体隐性遗传[10]

治疗依症状及其它风险因子决定。药物包括β受体阻滞剂维拉帕米丙吡胺[8]。若合并某些类型的心律不整,可能会建议使用植入式心律去颤器英语Implantable cardioverter-defibrillator[7]。对其他处置无效的患者,可考虑手术,如:心室中隔心肌切除术英语Septal myectomy心脏移植[7]。经妥善治疗后的年死亡率不到1%[14]

每500人中就有1人患有肥厚型心肌病[8]。虽与遗传有关,但发病年龄在各年龄层皆可能[15]。1958年,唐纳德·蒂尔英语Donald Teare首次现代化地清楚描述此疾病[16][17]

病因

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最常见的病因是遗传,由父母遗传给子女[6]。通常是制造心肌蛋白相关的某些基因发生突变[6]。其他可能原因包括法布瑞氏病弗里德希氏共济失调,与某些药物(如:他克莫司)可能引起的副作用[5]。它是一种心肌病,受影响的主要部位是心肌[3]心肌僵硬造成心脏输出血液的能力下降,心室间隔英语Interventricular septum增厚也会使血液从左心室流入主动脉时受阻,并导致二尖瓣功能减弱[18][8]

诊断

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心电图显示肥厚型阻塞性心肌病

心电图超声心动描记术诊断[19]。其他检查可能包括压力测试基因检测[19]。替患者的亲属进行基因筛查也可以提早诊断[19][20]。治疗通常从β受体阻滞剂维拉帕米丙吡胺开始[8]。应谨慎使用利尿剂,因为它会减少左心室容量和流出量,反而使心脏的输出变小,而使病情恶化[21]。对某些类型心律不整的患者,可能会建议使用植入式心律去颤器英语Implantable cardioverter-defibrillator[19]。对其他处置无效的患者,可考虑手术,如:心室中隔心肌切除术英语Septal myectomy心脏移植[18][22]。经过治疗,死于此病的风险每年不到1%[9]

发病人群

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每500人中就有1人患有肥厚型心肌病[8][22]。男性和女性的发病率大致相同[15]。所有年龄层都可能受发病[15]

参考文献

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  1. ^ Other Names for Cardiomyopathy. NHLBI. 2016-06-22 [2016-08-31]. (原始内容存档于2016-07-28). 
  2. ^ What Are the Signs and Symptoms of Cardiomyopathy?. NHLBI. 2016-06-22 [2017-11-10]. (原始内容存档于2016-07-28). 
  3. ^ 3.0 3.1 3.2 What Is Cardiomyopathy?. NHLBI. 2016-06-22 [2017-11-10]. (原始内容存档于2017-11-10). 
  4. ^ 4.0 4.1 Barsheshet A, Brenyo A, Moss AJ, Goldenberg I. Genetics of sudden cardiac death. Current Cardiology Reports. October 2011, 13 (5): 364–76. PMID 21789574. S2CID 25887172. doi:10.1007/s11886-011-0209-y. 
  5. ^ 5.0 5.1 5.2 5.3 Ferri, Fred F. Ferri's Clinical Advisor 2018 E-Book: 5 Books in 1. Elsevier Health Sciences. 2017: 246 [2017-11-10]. ISBN 9780323529570. (原始内容存档于2017-11-10). 
  6. ^ 6.0 6.1 6.2 6.3 6.4 What Causes Cardiomyopathy?. NHLBI. 2016-06-22 [2017-11-10]. (原始内容存档于2017-10-05). 
  7. ^ 7.0 7.1 7.2 7.3 7.4 7.5 Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. The Journal of Thoracic and Cardiovascular Surgery. December 2011, 142 (6): 1303–1338. PMID 22093712. doi:10.1016/j.jtcvs.2011.10.019可免费查阅. 
  8. ^ 8.0 8.1 8.2 8.3 8.4 8.5 8.6 8.7 Raja, Shahzad G. Cardiac Surgery: A Complete Guide. Springer Nature. : 35 [2025-01-31]. ISBN 978-3-030-24174-2. (原始内容存档于2022-10-14) (英语). 
  9. ^ 9.0 9.1 Maron BJ, Ommen SR, Semsarian C, Spirito P, Olivotto I, Maron MS. Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicine. Journal of the American College of Cardiology. July 2014, 64 (1): 83–99. PMID 24998133. doi:10.1016/j.jacc.2014.05.003可免费查阅. 
  10. ^ 10.0 10.1 10.2 10.3 10.4 Basit, Hajira; Alahmadi, Mohamed H.; Rout, Preeti; Sharma, Saurabh. Hypertrophic Cardiomyopathy. StatPearls (StatPearls Publishing). 2025 [2025-01-31]. PMID 28613539. (原始内容存档于2024-07-03). 
  11. ^ What Is Cardiomyopathy?. NHLBI. 2016-06-22 [2017-11-10]. (原始内容存档于2017-11-10). 
  12. ^ Bernardini A, Crotti L, Olivotto I, Cecchi F. Diagnostic and prognostic electrocardiographic features in patients with hypertrophic cardiomyopathy. European Heart Journal Supplements. May 2023, 25 (Suppl C): C173–C178. PMC 10132576可免费查阅. PMID 37125268. doi:10.1093/eurheartjsupp/suad074. 
  13. ^ 13.0 13.1 What Are the Signs and Symptoms of Cardiomyopathy?. NHLBI. National Heart Lung and Blood Institute. 2022-03-24 [2022-10-13]. (原始内容存档于2016-07-28). 
  14. ^ Maron BJ, Ommen SR, Semsarian C, Spirito P, Olivotto I, Maron MS. Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicine. Journal of the American College of Cardiology. July 2014, 64 (1): 83–99. PMID 24998133. doi:10.1016/j.jacc.2014.05.003. 
  15. ^ 15.0 15.1 15.2 Types of Cardiomyopathy. NHLBI. 2016-06-22 [2017-11-10]. (原始内容存档于2017-10-04). 
  16. ^ Teare D. Asymmetrical hypertrophy of the heart in young adults. British Heart Journal. January 1958, 20 (1): 1–8. PMC 492780可免费查阅. PMID 13499764. doi:10.1136/hrt.20.1.1. 
  17. ^ McKenna WJ, Sen-Chowdhry S. From Teare to the present day: a fifty year odyssey in hypertrophic cardiomyopathy, a paradigm for the logic of the discovery process. Revista Espanola de Cardiologia. December 2008, 61 (12): 1239–44 [2017-02-06]. PMID 19080961. doi:10.1016/S1885-5857(09)60050-5. (原始内容存档于2017-11-11). 
  18. ^ 18.0 18.1 AHA. Hypertrophic Cardiomyopathy (HCM). www.heart.org. American Heart Association. 2022-05-13 [2022-10-13]. (原始内容存档于2022-10-06) (英语). 
  19. ^ 19.0 19.1 19.2 19.3 Ommen, Steve R.; Mital, Seema; Burke, Michael A.; Day, Sharlene M.; Deswal, Anita; Elliott, Perry; Evanovich, Lauren L.; Hung, Judy; Joglar, José A.; Kantor, Paul; Kimmelstiel, Carey. 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary. Journal of the American College of Cardiology. 22 December 2020, 76 (25): 3022–3055 [14 October 2022]. PMID 33229115. doi:10.1016/j.jacc.2020.08.044. (原始内容存档于16 October 2022). 
  20. ^ Phelan, Dermot M.; Symanski, John. EngelEngel, David J.; Phelan, Dermot M. , 编. 7. Hypertrophic cardiomyopathy. Switzerland: Springer. 2021: 97–110 [2022-10-14]. ISBN 978-3-030-69383-1. (原始内容存档于2022-10-14) (英语). 
  21. ^ Shah, Sandy N. Hypertrophic Cardiomyopathy Treatment & Management: Approach Considerations, Left Ventricular Myomectomy and Mitral Valve Replacement, Pacemaker Implantation. emedicine. 29 April 2022 [13 October 2022]. (原始内容存档于13 October 2022). 
  22. ^ 22.0 22.1 Ralph-Edwards, Anthony; Vanderlaan, Rachel D.; Bajona, Pietro. Transaortic septal myectomy: techniques and pitfalls. Annals of Cardiothoracic Surgery. July 2017, 6 (4): 410–415 [2022-10-13]. ISSN 2225-319X. PMID 28944183. doi:10.21037/acs.2017.07.08. (原始内容存档于2022-10-13). 

外部链接

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