Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers–Danlos syndrome

Makrygiannis, Georgios; Loeys, Bart; Defraigne, Jean-Olivier; Sakalihasan, Natzi

doi:10.1016/j.ejmg.2015.10.009

Cited by 6 publications

(4 citation statements)

References 10 publications

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“…The association between CeAD and rare genetic variants affecting cardiovascular system development observed in our study is in agreement with earlier findings of rare COL3A1 and TGFBR2 mutations in some patients [23-26]. Moreover, our pilot study of 70 CeAD patients revealed a rare CNV of the COL3A1/COL5A2 locus and some additional CNVs affecting cardiovascular system development or muscle organ development [7].…”

Section: Discussionsupporting

confidence: 92%

Genetic Imbalance in Patients with Cervical Artery Dissection

Grond‐Ginsbach¹,

Chen²,

Krawczak³

et al. 2017

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Background: Genetic and environmental risk factors are assumed to contribute to the susceptibility to cervical artery dissection (CeAD). To explore the role of genetic imbalance in the etiology of CeAD, copy number variants (CNVs) were identified in high-density microarrays samples from the multicenter CADISP (Cervical Artery Dissection and Ischemic Stroke Patients) study and from control subjects from the CADISP study and the German PopGen biobank. Microarray data from 833 CeAD patients and 2040 control subjects (565 subjects with ischemic stroke due to causes different from CeAD and 1475 disease-free individuals) were analyzed. Rare genic CNVs were equally frequent in CeAD-patients (16.4%; n=137) and in control subjects (17.0%; n=346) but differed with respect to their genetic content. Compared to control subjects, CNVs from CeAD patients were enriched for genes associated with muscle organ development and cell differentiation, which suggests a possible association with arterial development. CNVs affecting cardiovascular system development were more common in CeAD patients than in control subjects (p=0.003; odds ratio (OR) =2.5; 95% confidence interval (95% CI) =1.4-4.5) and more common in patients with a familial history of CeAD than in those with sporadic CeAD (p=0.036; OR=11.2; 95% CI=1.2-107).Conclusion: The findings suggest that rare genetic imbalance affecting cardiovascular system development may contribute to the risk of CeAD. Validation of these findings in independent study populations is warranted.

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Section: Discussionsupporting

confidence: 92%

Genetic Imbalance in Patients with Cervical Artery Dissection

Grond‐Ginsbach¹,

Chen²,

Krawczak³

et al. 2017

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“…Multiple case reports underline the importance of consideration of underlying collagen vascular disease in young patients with unexplained vascular anomalies 15. Arterial complications (including dissection of the abdominal/thoracic aortic, coronary, carotid, subclavian, vertebral, cervical, renal and iliac arteries) have been reported in patients with already diagnosed or previously undiagnosed vEDS 15–23. Often further review of family history will reveal a history of arterial dissections or sudden death in family members24 although notably, there can be significant phenotypic variance in disease presentation in family members.…”

Section: Discussionmentioning

confidence: 99%

Asymptomatic bilateral common iliac artery dissections in previously undiagnosed vascular Ehlers-Danlos syndrome

Lavoie

Reese

2019

BMJ Case Rep

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We report a case of a 35-year-old woman found to have vascular Ehlers-Danlos syndrome (vEDS) after family history of sudden death due to aortic dissection in her otherwise healthy brother prompted further imaging workup and consideration of an underlying heritable genetic condition. CT angiogram of the aorta with intravenous contrast revealed an abdominal aortic artery dissection below the level of the renal arteries extending from the bifurcation into the left common iliac artery with an additional focal dissection of the right common iliac artery. To the author’s knowledge, this is the first report of asymptomatic bilateral common iliac artery dissections as a part of the initial presentation of a patient with underlying vEDS. Additionally, this case highlights the importance of familial diagnostic screening in inherited vasculopathies. Clinical history, genetic testing and management are discussed.

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“…A vEDS-causing gene, COL3A1, is also among those referenced as dissection associated ones, due to the supporting literature data on population studies and case reports. The dissection was found to develop in different locations of the arterial tree, such as the abdominal aorta, as well as the iliac, coronary, and cervical arteries [ 103 , 104 , 105 , 106 ]. Concerning syndromic TAA in patients diagnosed as vEDS, few post-mortem cases were reported in 2010 [ 107 ], and 33 unrelated individuals or families were found to carry COL3A1 splicing mutations or small deletions partially removing splice-junctions sequences [ 108 ], and patients developing post-surgical or sudden aortic events are reported [ 109 , 110 , 111 ].…”

Section: Mechanisms Of Taa Progression: the Dissection Menacementioning

confidence: 99%

Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection

et al. 2022

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The main challenge in diagnosing and managing thoracic aortic aneurysm and dissection (TAA/D) is represented by the early detection of a disease that is both deadly and “elusive”, as it generally grows asymptomatically prior to rupture, leading to death in the majority of cases. Gender differences exist in aortic dissection in terms of incidence and treatment options. Efforts have been made to identify biomarkers that may help in early diagnosis and in detecting those patients at a higher risk of developing life-threatening complications. As soon as the hereditability of the TAA/D was demonstrated, several genetic factors were found to be associated with both the syndromic and non-syndromic forms of the disease, and they currently play a role in patient diagnosis/prognosis and management-guidance purposes. Likewise, circulating biomarker could represent a valuable resource in assisting the diagnosis, and several studies have attempted to identify specific molecules that may help with risk stratification outside the emergency department. Even if promising, those data lack specificity/sensitivity, and, in most cases, they need more testing before entering the “clinical arena”. This review summarizes the state of the art of the laboratory in TAA/D diagnostics, with particular reference to the current and future role of molecular-genetic testing.

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Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers–Danlos syndrome

Cited by 6 publications

References 10 publications

Genetic Imbalance in Patients with Cervical Artery Dissection

Genetic Imbalance in Patients with Cervical Artery Dissection

Asymptomatic bilateral common iliac artery dissections in previously undiagnosed vascular Ehlers-Danlos syndrome

Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection

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