A Rare Case of 7 Simultaneous Arterial Dissections and Review of The Literature

Komem, Daphna Amitai; Halevy, Rivka Sukenik; Griton, Yigal; Shnaker, Ali; Levy, Yair; Weissmann, Jonathan; Fajer, Simone

doi:10.1177/1538574419864783

Cited by 4 publications

(4 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The first mutation of COL3A1 was described in an inherited Ehlers-Danlos syndrome type IV patient in 1988 ( Superti-Furga et al, 1988 ). Many mutations have also been reported to be associated with TAAD ( Kontusaari et al, 1990a ; Kontusaari et al, 1990b ; Gu et al, 2018 ; Amitai Komem et al, 2019 ). Mutations in this gene cause a variety of vascular diseases, such as familial TAAD, Ehlers-Danlos syndrome, and cardiovascular phenotype.…”

Section: Discussionmentioning

confidence: 99%

Whole-Exome Sequencing Identified Genes Responsible for Thoracic Aortic Aneurysms and Dissections in three Chinese Families

Guo

Pei

et al. 2022

Front. Genet.

View full text Add to dashboard Cite

Thoracic aortic aneurysms and dissections are precarious conditions that often cannot be diagnosed with fatal outcomes. Over the last few years, pathogenic variants in numerous genes have been identified that predispose to heritable presentations of TAAD. An evidence-based strategy for the selection of genes to test in familial TAAD helps inform family screening and intervention to prevent life-threatening events. Using whole-exome sequencing, four members of three unrelated families clinically diagnosed with TAAD were used to identify the genetic origin of the disorder. Variant evaluation was carried out to detect the pathogenic mutation. Our studies suggest that mutations of COL3A1 and ACTA2 are responsible for familial TAAD. In addition, we highlight FBLN5, FBN1, SLC2A10, FBN2, and NOTCH1 as candidate genes. Future studies of crosstalk among the pathways may provide us a step toward understanding the pathogenic mechanism. This finding indicates the necessity of obtaining family medical history and screening of extended relatives of patients with TAAD for the early identification and treatment of TAAD.

show abstract

Section: Discussionmentioning

confidence: 99%

Whole-Exome Sequencing Identified Genes Responsible for Thoracic Aortic Aneurysms and Dissections in three Chinese Families

Guo

Pei

et al. 2022

Front. Genet.

View full text Add to dashboard Cite

show abstract

“…This strongly suggests that there are likely mechanistic subtypes of arterial dissection. Simultaneous artery dissections have been reported – one case study reported seven arterial dissections within 24 h of hospital admission in both iliac arteries, inferior mesenteric, renal, splenic and celiac arteries ( 95 ). Although no phenotypic features of connective tissue diseases were evident, genetic screening of the 28 vascular dissection and aneurysm-associated genes (a connective tissue disease panel) identified a variant in COL3A1 (c.3199A > T, Ser1067Cys).…”

Section: Spontaneous Arterial Dissectionsmentioning

confidence: 99%

“…Although no phenotypic features of connective tissue diseases were evident, genetic screening of the 28 vascular dissection and aneurysm-associated genes (a connective tissue disease panel) identified a variant in COL3A1 (c.3199A > T, Ser1067Cys). The clinical significance of this variant is unknown; these amino acids differ only in one functional group whereby an alcohol in serine is replaced by a thiol group in cysteine ( 95 ). As there were other family members who were also homozygous for this variant with no history of vasculopathy, further investigation, such as whole genome sequencing (WGS) and cellular and molecular studies, is needed to elucidate the mechanisms causing this extreme phenotype.…”

Section: Spontaneous Arterial Dissectionsmentioning

confidence: 99%

Arterial dissections: Common features and new perspectives

Bax

Romanov

Junday

et al. 2022

Front. Cardiovasc. Med.

View full text Add to dashboard Cite

Arterial dissections, which involve an abrupt tear in the wall of a major artery resulting in the intramural accumulation of blood, are a family of catastrophic disorders causing major, potentially fatal sequelae. Involving diverse vascular beds, including the aorta or coronary, cervical, pulmonary, and visceral arteries, each type of dissection is devastating in its own way. Traditionally they have been studied in isolation, rather than collectively, owing largely to the distinct clinical consequences of dissections in different anatomical locations – such as stroke, myocardial infarction, and renal failure. Here, we review the shared and unique features of these arteriopathies to provide a better understanding of this family of disorders. Arterial dissections occur commonly in the young to middle-aged, and often in conjunction with hypertension and/or migraine; the latter suggesting they are part of a generalized vasculopathy. Genetic studies as well as cellular and molecular investigations of arterial dissections reveal striking similarities between dissection types, particularly their pathophysiology, which includes the presence or absence of an intimal tear and vasa vasorum dysfunction as a cause of intramural hemorrhage. Pathway perturbations common to all types of dissections include disruption of TGF-β signaling, the extracellular matrix, the cytoskeleton or metabolism, as evidenced by the finding of mutations in critical genes regulating these processes, including LRP1, collagen genes, fibrillin and TGF-β receptors, or their coupled pathways. Perturbances in these connected signaling pathways contribute to phenotype switching in endothelial and vascular smooth muscle cells of the affected artery, in which their physiological quiescent state is lost and replaced by a proliferative activated phenotype. Of interest, dissections in various anatomical locations are associated with distinct sex and age predilections, suggesting involvement of gene and environment interactions in disease pathogenesis. Importantly, these cellular mechanisms are potentially therapeutically targetable. Consideration of arterial dissections as a collective pathology allows insight from the better characterized dissection types, such as that involving the thoracic aorta, to be leveraged to inform the less common forms of dissections, including the potential to apply known therapeutic interventions already clinically available for the former.

show abstract

“…They also describe neurological symptoms to include motor and sensory neuropathy, reminiscent of Charcot-Marie-Tooth syndrome without the associated CMT2 gene mutation. 5 Amitai Komem et al 6 reported a case of 7 simultaneous arterial dissections in 2019. Dissected arteries included the right internal carotid artery, celiac trunk, splenic artery, right renal artery, inferior mesenteric artery, and bilateral external iliac arteries.…”

mentioning

confidence: 99%

Spontaneous Multiple Arterial Dissection in a COVID-19–Positive Decedent

James¹,

Peterson²

2021

Am J Forensic Med Pathol

View full text Add to dashboard Cite

Spontaneous multiple arterial dissection (SMAD) is a rarely reported phenomenon and has been previously linked to connective tissue diseases and specifically the genetic mutations in SMAD3 and COL3A1 . Herein we describe a case of SMAD with scattered thrombi in a COVID-19–positive patient with a history of unspecified mitochondrial myopathy. Vasculopathy involved the splenic artery, inferior mesenteric artery, internal mammary arteries, omental arteries, mesenteric arteries, and small renal arteries. Dissections were confirmed by histology in the splenic artery, inferior mesenteric artery, and bilateral renal medullary arteries. Genetic studies were done to rule out SMAD3 and COL3A1 mutations. Because the Smad3 protein has been previously implicated in COVID-19–associated tissue fibrosis, it may play a role in endothelial dysfunction as well.

show abstract

A Rare Case of 7 Simultaneous Arterial Dissections and Review of The Literature

Cited by 4 publications

References 17 publications

Whole-Exome Sequencing Identified Genes Responsible for Thoracic Aortic Aneurysms and Dissections in three Chinese Families

Whole-Exome Sequencing Identified Genes Responsible for Thoracic Aortic Aneurysms and Dissections in three Chinese Families

Arterial dissections: Common features and new perspectives

Spontaneous Multiple Arterial Dissection in a COVID-19–Positive Decedent

Contact Info

Product

Resources

About