遗传性主动脉病变:综述

Fortunate Mamombe, Catherine E Renwick, A. Potterton, Elizabeth Wilson, C. Romer, Rachana Kalathiparambil, Anita Banerjee, Rosalie Magboo
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引用次数: 1

摘要

这篇文章是一个更广泛的系列研究心脏遗传概念的第四部分。遗传性主动脉病变是一组影响主动脉的综合征和非综合征性遗传病。主动脉病变可通过主动脉瘤破裂导致心源性猝死,特别是在主动脉病变未确诊的个体中。大多数遗传性主动脉病变遵循常染色体显性遗传模式,高质量的家族史在评估这是至关重要的。本文重点介绍胸主动脉瘤的病因、诊断和治疗,包括风险分层和治疗。
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Inherited aortopathy: an overview
This article is the fourth instalment of a wider series looking at cardiac genetic concepts. Inherited aortopathies are a group of syndromic and non-syndromic genetic conditions that affect the aorta. Aortopathies can lead to sudden cardiac death through aortic aneurysm rupture, especially in individuals whose aortopathy is undiagnosed. Most inherited aortopathies follow an autosomal dominant inheritance pattern and high-quality family history taking is paramount in assessing this. This article focuses on thoracic aortic aneurysm and provides an overview of the aetiology, diagnosis and management, including risk stratification and treatment.
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