诊断和治疗遗传性结缔组织疾病或遗传性胸主动脉疾病患者的心血管疾病。

IF 3.1 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS

Cardiovascular Intervention and Therapeutics Pub Date : 2024-04-01 Epub Date: 2024-01-05 DOI:10.1007/s12928-023-00977-0

Takeshi Yagyu, Teruo Noguchi

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引用次数: 0

摘要

以马凡综合征为代表的遗传性结缔组织病（HCTD）患者可能在 50 岁之前就出现致命的主动脉和/或动脉并发症。因此，准确的诊断、适当的药物治疗以及对主动脉和动脉病变的早期预防性手术治疗对于改善预后至关重要。HCTD 患者通常因结缔组织异常而表现出特定的体征，而一些遗传性胸主动脉疾病（HTAD）患者则几乎没有明显的体征。基因检测的发展使得为 HCTDs/HTADs 患者提供准确诊断成为可能。本综述概述了遗传性胸主动脉疾病/遗传性胸主动脉疾病的诊断和治疗，包括针对这一人群的心血管干预措施的现有证据。

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Diagnosis and treatment of cardiovascular disease in patients with heritable connective tissue disorders or heritable thoracic aortic diseases.

Patients with heritable connective tissue disorders (HCTDs), represented by Marfan syndrome, can develop fatal aortic and/or arterial complications before age 50. Therefore, accurate diagnosis, appropriate medical treatment, and early prophylactic surgical treatment of aortic and arterial lesions are essential to improve prognosis. Patients with HCTDs generally present with specific physical features due to connective tissue abnormalities, while some patients with heritable thoracic aortic diseases (HTADs) have few distinctive physical characteristics. The development of genetic testing has made it possible to provide accurate diagnoses for patients with HCTDs/HTADs. This review provides an overview of the diagnosis and treatment of HCTDs/HTADs, including current evidence on cardiovascular interventions for this population.

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来源期刊

Cardiovascular Intervention and Therapeutics CARDIAC & CARDIOVASCULAR SYSTEMS-

CiteScore

6.30

自引率

12.50%

发文量

期刊介绍： Cardiovascular Intervention and Therapeutics (CVIT) is an international journal covering the field of cardiovascular disease and includes cardiac (coronary and noncoronary) and peripheral interventions and therapeutics. Articles are subject to peer review and complete editorial evaluation prior to any decision regarding acceptability. CVIT is an official journal of The Japanese Association of Cardiovascular Intervention and Therapeutics.