Genetic aortopathies: a case-based approach to multidisciplinary program development.

IF 2 4区医学 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS

Current Opinion in Cardiology Pub Date : 2024-04-22 DOI:10.1097/HCO.0000000000001155

Christopher P Jordan, Akos Berthold, Jason Bonomo

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Abstract

PURPOSE OF REVIEW The incorporation of genetic counseling and testing is essential to evaluation and management of thoracic aortic disease in patients under 60 years of age and those with family histories suspicious for heritable thoracic aortic disease and disorders associated with increased risk for acute type-A aortic dissection. RECENT FINDINGS As many as 20% of individuals with thoracic aortic disease under the age of 60 years have autosomal dominant patterns of inheritance. A considerable number of heritability factors remain undefined for these families. SUMMARY Genetic aortopathy programs require a collaborative approach including cardiovascular specialists and surgeons, medical geneticists, genetic counselors, and allied healthcare professionals. Comprehensive evaluation and management of these patients includes collection of detailed phenotypic data to inform the broader community and identify new associated and causative genes of interest, genetic modifiers, and other risk factors. These programs optimize outcomes and reduce the overall burden in the population of acute aortic dissection and related comorbidities.

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遗传性大动脉疾病：以病例为基础的多学科项目开发方法。

综述遗传性大动脉病变项目需要心血管专家和外科医生、医学遗传学家、遗传咨询师等多方合作才能完成。总结遗传性大动脉疾病项目需要包括心血管专家和外科医生、医学遗传学家、遗传咨询师以及联合医疗保健专业人员在内的合作方法。对这些患者的全面评估和管理包括收集详细的表型数据，以便为更广泛的社区提供信息，并确定新的相关致病基因、遗传修饰因子和其他风险因素。这些计划可优化治疗效果，减轻急性主动脉夹层和相关合并症患者的总体负担。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Current Opinion in Cardiology 医学-心血管系统

CiteScore

4.20

自引率

4.30%

发文量

审稿时长

6-12 weeks

期刊介绍： Current Opinion in Cardiology is a bimonthly publication offering a unique and wide ranging perspective on the key developments in the field. Each issue features hand-picked review articles from our team of expert editors. With fourteen disciplines published across the year – including arrhythmias, molecular genetics, HDL cholesterol and clinical trials – every issue also contains annotated reference detailing the merits of the most important papers.