Yoshida Shohei, Tada Hayato, Goten Chiaki, Okada Hirofumi, Sakata Kenji, Takamura Masayuki
Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
JACC Case Rep. 2024 Dec 4;29(23):102731. doi: 10.1016/j.jaccas.2024.102731.
Hereditary thoracic aortic disease (HTAD) is a rare heritable condition with several subtypes, including Marfan syndrome (MFS), vascular Ehlers-Danlos syndrome, and Loeys-Dietz syndrome (LDS). Although MFS is the most common type of HTAD caused by mutations in , differentiation from other conditions such as LDS is crucial due to the varying clinical courses. We report the case of a family history of early-onset ascending aortic dissection initially diagnosed as MFS based on a pathogenic variant of . However, comprehensive genetic testing using next-generation sequencing and array-comparative genomic hybridization revealed a copy number variation (a large deletion) in , resulting in a diagnosis of the coexistence of MFS and LDS. These results significantly altered the screening and follow-up strategies. This case highlights the importance of comprehensive genetic testing, not only for assessing single nucleotide polymorphisms but also for evaluating copy number variations to ensure accurate differentiation and management of HTAD.
遗传性胸主动脉疾病（HTAD）是一种罕见的遗传性疾病，有多种亚型，包括马凡综合征（MFS）、血管性埃勒斯-当洛综合征和洛伊茨-迪茨综合征（LDS）。虽然MFS是由[相关基因]突变引起的最常见的HTAD类型，但由于临床病程不同，将其与LDS等其他疾病区分开来至关重要。我们报告了一例早发性升主动脉夹层家族史的病例，最初基于[相关基因]的一个致病变异被诊断为MFS。然而，使用下一代测序和阵列比较基因组杂交进行的全面基因检测发现[相关基因]存在拷贝数变异（一个大片段缺失），导致诊断为MFS和LDS共存。这些结果显著改变了筛查和随访策略。该病例强调了全面基因检测的重要性，不仅用于评估单核苷酸多态性，还用于评估拷贝数变异，以确保对HTAD进行准确的鉴别和管理。
