Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.

IF 3.5 2区 医学 Q2 GENETICS & HEREDITY Journal of Medical Genetics Pub Date : 2024-08-29 DOI:10.1136/jmg-2024-109861
Vicken Totten, Gisela Teixido-Tura, Fermina Lopez-Grondona, Paula Fernandez-Alvarez, Amaia Lasa-Aranzasti, Patricia Muñoz-Cabello, Rika Kosaki, Eduardo F Tizzano, Wendy Dewals, Emma Borràs, Elena Gonzalez Cañas, Berta Almoguera, Bart Loeys, Irene Valenzuena
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Abstract

Background: Tatton-Brown-Rahman syndrome (TBRS) is a rare disorder, caused by DNMT3A heterozygous pathogenic variants, and first described in 2014. TBRS is characterised by overgrowth, intellectual disability, facial dysmorphism, hypotonia and musculoskeletal features, as well as neurological and psychiatric features. Cardiac manifestations have also been reported, mainly congenital malformations such as atrial septal defect, ventricular septal defect and cardiac valvular disease. Aortic dilatation has rarely been described.

Methods: Here we have undertaken a detailed clinical and molecular description of eight previously unreported individuals, who had TBRS and arterial dilatation and/or dissection, mainly thoracic aortic aneurysm (TAA). We have also reviewed the seven previously published cases of TAA in individuals with TBRS to try to better delineate the vascular phenotype and to determine specific follow-up for this condition.

Results: We include eight new patients with TBRS who presented with arterial aneurysms mainly involving aorta. Three of these patients presented with dissection that required critical surgery.

Conclusions: Arterial aneurysms and dissections are a potentially lethal, age-dependent manifestation. The prevalence of aortic disease in individuals with TBRS is far in excess of that expected in the general population. This cohort, together with individuals previously published, illustrates the importance to consider dilatation/dissection, mainly in aorta but also in other arteries. Arterial vascular weakness may therefore also be a cardinal feature of TBRS and vascular surveillance is recommended.

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动脉瘤和夹层:Tatton-Brown-Rahman 综合征表型的演变。
背景:塔顿-布朗-拉赫曼综合征(TBRS)是一种罕见疾病,由 DNMT3A 杂合致病变异引起,于 2014 年首次被描述。塔顿-布朗-拉赫曼综合征的特征是发育过度、智力障碍、面部畸形、肌张力低下、肌肉骨骼特征以及神经和精神特征。心脏表现也有报道,主要是先天性畸形,如房间隔缺损、室间隔缺损和心脏瓣膜病。方法:在此,我们对以前未报道过的 8 例 TBRS 和动脉扩张和/或夹层(主要是胸主动脉瘤 (TAA))患者进行了详细的临床和分子描述。我们还回顾了之前发表的七例患有 TBRS 的 TAA 病例,试图更好地描述血管表型,并确定该病症的具体后续治疗方案:我们纳入了八名新的 TBRS 患者,他们主要表现为涉及主动脉的动脉瘤。其中三名患者出现夹层,需要进行重症手术:结论:动脉瘤和动脉夹层是一种潜在的致命疾病,与年龄有关。主动脉疾病在 TBRS 患者中的发病率远高于普通人群。这组病例以及之前发表的病例说明,考虑主动脉扩张/横断的重要性,主要是主动脉扩张/横断,但也包括其他动脉扩张/横断。因此,动脉血管衰弱也可能是 TBRS 的一个主要特征,建议进行血管监测。
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来源期刊
Journal of Medical Genetics
Journal of Medical Genetics 医学-遗传学
CiteScore
7.60
自引率
2.50%
发文量
92
审稿时长
4-8 weeks
期刊介绍: Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.
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