肥厚性心肌病:成为当代可治疗疾病的心血管挑战。

IF 1.4 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS
Stefanos G Sakellaropoulos, Benedict Schulte Steinberg
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引用次数: 0

摘要

肥厚性心肌病是最常见的遗传性心肌病之一,它是由心肌肌节蛋白编码基因突变引起的。它是年轻人和训练有素的运动员猝死的最常见原因。所有的诊断方法,包括心导管、经胸和经食管超声心动图、磁共振成像、遗传咨询和组织活检,都是风险和治疗分层所必需的,并应根据表型和基因型进行个体化。目前的治疗方法还没有经过充分的测试。受体阻滞剂和维拉帕米可引起低血压,使肥厚性心肌病恶化。对二丙酰胺的研究不够充分,而马伐卡坦仅在小型试验中进行了研究。目前正在进行更明确的试验。新的侵入性和非侵入性诊断,医学治疗,介入和手术方法倾向于影响疾病的自然史,有利于这一患者群体的美好未来。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Hypertrophic Cardiomyopathy: A Cardiovascular Challenge Becoming a Contemporary Treatable Disease.

Hypertrophic Cardiomyopathy: A Cardiovascular Challenge Becoming a Contemporary Treatable Disease.

Hypertrophic Cardiomyopathy: A Cardiovascular Challenge Becoming a Contemporary Treatable Disease.

Hypertrophic cardiomyopathy is one of the most common genetic inherited diseases of myocardium, which is caused by mutation in genes encoding proteins for the cardiac sarcomere. It is the most frequent cause of sudden death in young people and trained athletes. All diagnostic methods, including heart catheterization, transthoracic and transesophageal echocardiography, magnetic resonance imaging, genetic counseling and tissue biopsy are required for risk and therapy stratification and should be individualized depending on phenotype and genotype. Current therapy has not been tested adequately. Beta-blockers and verapamil can cause hypotension which can make hypertrophic cardiomyopathy worse. Disopyramide has been inadequately studied, and mavacamten was only studied in small trials. More definitive trials are currently ongoing. Novel invasive and noninvasive diagnostics, medical therapies, interventional and surgical approaches tend to influence the natural history of the disease, favoring a better future for this patient population.

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来源期刊
Cardiology Research
Cardiology Research CARDIAC & CARDIOVASCULAR SYSTEMS-
CiteScore
2.50
自引率
0.00%
发文量
42
期刊介绍: Cardiology Research is an open access, peer-reviewed, international journal. All submissions relating to basic research and clinical practice of cardiology and cardiovascular medicine are in this journal''s scope. This journal focuses on publishing original research and observations in all cardiovascular medicine aspects. Manuscript types include original article, review, case report, short communication, book review, letter to the editor.
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