Caley Lídia, Campar Ana, Mendonça Teresa, Farinha Fátima
Internal Medicine Department, Centro Hospitalar Médio Tejo, Abrantes, Portugal.
Internal Medicine Department, Centro Hospitalar Universitário do Porto, Portugal.
Eur J Case Rep Intern Med. 2023 Jan 24;10(2):003698. doi: 10.128f90/2023_003698. eCollection 2023.
Classical Ehlers-Danlos syndrome (cEDS) is one of the 13 subtypes of Ehlers-Danlos syndrome, which has the major clinical criteria of hyperextensibility skin, atrophic scars, and generalised joint hypermobility. The occurrence of aortic dissection has been described in some subtypes of Ehlers-Danlos, but it has a rare association with the cEDS subtype. This case report discusses a 39-year-old female with a past medical history of transposition of great arteries with a Senning repair at the age of 18 months and controlled hypertension with medication, who presents a spontaneous distal aortic dissection. The diagnosis of cEDS was made using the major criteria, and a novel frameshift mutation in COL5A1 was discovered. The reported case emphasises that in patients with cEDS, vascular fragility may be a complication.
Classical Ehlers-Danlos is a rare autosomal dominant inherited connective disorder.Arterial dissections are rarely found in cEDS patients.Association of cEDS and vascular fragility can result from new type V collagen mutation.
经典型埃勒斯-当洛综合征（cEDS）是埃勒斯-当洛综合征13种亚型之一，其主要临床标准为皮肤过度伸展、萎缩性瘢痕和全身关节活动过度。主动脉夹层的发生在埃勒斯-当洛综合征的某些亚型中已有描述，但与cEDS亚型的关联罕见。本病例报告讨论了一名39岁女性，既往有18个月大时接受森宁修复术的大动脉转位病史，通过药物控制高血压，现出现自发性远端主动脉夹层。使用主要标准诊断为cEDS，并发现了COL5A1基因中的一种新型移码突变。报告的病例强调，在cEDS患者中，血管脆性可能是一种并发症。
经典型埃勒斯-当洛综合征是一种罕见的常染色体显性遗传性结缔组织疾病。cEDS患者很少发生动脉夹层。cEDS与血管脆性的关联可能源于新型V型胶原突变。
