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肥厚型心肌病:一项心血管挑战正成为一种当代可治疗疾病。

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

作者信息

Sakellaropoulos Stefanos G, Steinberg Benedict Schulte

机构信息

Department of Internal Medicine, Cardiology Clinic, Kantonsspital Baden, Baden, Switzerland.

Department of Cardiology and Angiology, Robert Bosch Hospital, Baden-Wurttemberg, Germany.

出版信息

Cardiol Res. 2023 Aug;14(4):243-249. doi: 10.14740/cr1514. Epub 2023 Jul 12.

Abstract

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.

摘要

肥厚型心肌病是最常见的遗传性心肌疾病之一,由编码心肌肌节蛋白的基因突变引起。它是年轻人和受过训练的运动员猝死的最常见原因。所有诊断方法,包括心导管检查、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,对于风险评估和治疗分层都是必需的,并且应根据表型和基因型进行个体化。目前的治疗方法尚未经过充分测试。β受体阻滞剂和维拉帕米可导致低血压,进而使肥厚型心肌病恶化。丙吡胺的研究尚不充分,而马伐卡坦仅在小型试验中进行了研究。目前正在进行更多确定性试验。新型侵入性和非侵入性诊断、药物治疗、介入和手术方法倾向于影响疾病的自然病程,为这一患者群体带来更好的未来。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b68/10409543/ec8fb9508e95/cr-14-243-g001.jpg

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