Vascular ehler danlos

INTRODUCTION: Engaging patients living with or at risk for aortic dissection via the Aortic Dissection Collaborative, physician education in vascular genetics was identified as a research priority. We surveyed vascular surgeons to characterize practice patterns, motivations, and barriers regarding aortopathy genetic testing. METHODS: An anonymous 27-question survey was distributed on social media platforms between November and December 2022. Domains included: demographics, vascular genetic education, testing attitudes and utilization, and experience in treating patients with genetic vascular aortopathies...

INTRODUCTION: To date, approximately 600 unique pathogenic variants have been reported in COL3A1 associated with vascular Ehlers-Danlos syndrome (vEDS). The objective of this study was to describe a patient with a novel variant in COL3A1 associated with vEDS. CASE REPORT: We describe the clinical history and thorough phenotyping of a patient with brain aneurysms and identified a novel pathogenic variant in COL3A1 . This male patient reported transient focal neurologic symptoms...

OBJECTIVES: Isolated abdominal aortic dissection (IAAD) is a rare entity with poorly defined risk factors and wide variation in management. We set forth to compare patient characteristics, management, and outcomes of uncomplicated IAAD (uIAAD) versus high risk and complicated IAAD (hrcIAAD) to investigate whether these categories can be utilized to guide IAAD management and provide risk stratification for intervention. METHODS: Retrospective chart review was performed to identify all patients with spontaneous IAAD at a tertiary health care system between 1996 and 2022...

This is a case of a 46-year-old woman who presented with right common iliac artery dissection preceded by a left common iliac artery dissection and rupture 6 years earlier. Both iliac arteries required repair. Based on her presentation, she met the clinical diagnostic criteria for vascular Ehlers-Danlos syndrome; however, the genetic workup demonstrated that she had classic Ehlers-Danlos syndrome due to a null variant in COL5A1 , which is rarely associated with arteriopathy.

Thoracic aortic disease (TAD) poses substantial risks during pregnancy, particularly for women with genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. This review examines the epidemiology, risk assessment, and management of TAD in pregnancy. Preconception counseling is vital considering the hereditary nature of TAD and potential pregnancy-related complications. Genetic testing and imaging surveillance aid in risk assessment. Medical management, including beta-blockade and strict blood pressure control, is essential throughout pregnancy...

BACKGROUND: Ehlers-Danlos syndrome (EDS) is a genetic disorder that causes fragility of the systemic connective tissues. Of the 13 subtypes, vascular EDS (vEDS) is associated with abnormalities in collagen production, resulting in arterial rupture and intestinal perforation. Herein, we report the case of a man with confirmed vEDS who survived a ruptured dissected splenic artery aneurysm triggered by perforation of the sigmoid colon. CASE PRESENTATION: A 48-year-old man presented to our hospital with sudden severe lower abdominal pain...

BACKGROUND: Ehlers-Danlos syndrome (EDS) refers to a group of heritable connective tissue disorders (HCTDs). Clinical hallmarks of EDS include tissue fragility, joint hypermobility, and skin hyperextensibility. One of the consequences of tissue fragility is abnormal wound healing and scar formation, posing potential challenges for surgeons treating these patients. There are limited previous reports of EDS patients undergoing mastectomy and/or breast reconstruction, and none wherein the patient had diagnoses of both vascular EDS (vEDS) and classical EDS (cEDS)...

BACKGROUND: Surgery for Stanford type A aortic dissection (TAAD) is associated with an increased risk of late aortic reoperations due to degeneration of the dissected aorta. METHODS: The subjects of this analysis were 990 TAAD patients who survived surgery for acute TAAD and had complete data on the diameter and dissection status of all aortic segments. RESULTS: After a mean follow-up of 4.2 ± 3.6 years, 60 patients underwent 85 distal aortic reoperations...

Vascular Ehlers-Danlos Syndrome (vEDS) is a rare and potentially life-threatening inherited connective tissue disorder. Patients with vEDS can present with spontaneous arterial dissections and ruptured aneurysms. There are previous reports of large artery dissections and vessel rupture following conventional catheter diagnostic angiography. We present the case of a patient with vEDS who had a spontaneous carotid-cavernous fistula (CCF) and visceral aneurysms, associated with a normal variant of corona mortis...

Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders caused by mutations in collagen and collagen-interacting genes. We delineate a novel form of EDS with vascular features through clinical and histopathological phenotyping and genetic studies of a three-generation pedigree, displaying an apparently autosomal dominant phenotype of joint hypermobility and frequent joint dislocations, atrophic scarring, prolonged bleeding time and age-related aortic dilatation and rupture. Coagulation tests as well as platelet counts and function were normal...

Endovascular repair has traditionally been avoided in patients with connective tissue disorders. We describe successful treatment of multiple endoleaks of an expanding common iliac artery aneurysm previously treated with an endograft in a patient with vascular Ehlers-Danlos syndrome. The modalities used to treat the endoleaks were transgluteal embolization of the internal iliac artery and proximal and distal extension of the prior endograft. This case demonstrates endovascular management of endoleaks in patients with vascular Ehlers-Danlos syndrome can be safe and feasible...

Patients with null variants may have milder vascular Ehlers-Danlos syndrome, presenting with seemingly non-specific complaints and subtle cutaneous features that may be missed. A high index of suspicion and early genetic testing (aided by next-generation sequencing) were crucial for prevention of life-threatening complications in the patient and family members.

Ehlers-Danlos syndrome (EDS) belongs to a spectrum of rare heritable connective tissue disorders and is characterised by hyperextensibility, joint hypermobility and tissue fragility. Peripheral blood mononuclear cells (PBMCs) from a vascular EDS (vEDS) patient, known as the rarest EDS subtype, carrying a heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene, which is essential for type III collagen synthesis, were reprogrammed into induced pluripotent stem cells (iPSCs). The generated iPSCs exhibit high expression of pluripotency-associated markers, possess trilineage differentiation capacity and reveal a normal karyotype...

Vascular Ehlers-Danlos syndrome is a fatal disease caused by a type III collagen mutation that can result in the rupture of blood vessels, the intestinal tract, and/or the uterus. Despite being the most severe form of Ehlers-Danlos syndrome, it is not well known in the pediatric context because it rarely presents serious complications in childhood. In this case, the patient experienced a subclavian artery rupture triggered by sneezing, which was initially managed with an endovascular stent. However, the descending aorta subsequently ruptured, and the patient died...

Ehlers-Danlos syndrome (EDS) consists of a heterogeneous group of congenital collagen formation disorders characterised by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility. Collagen vascular disorders have been implicated in increased incidence and severity of radiation toxicities; however, there are limited reports on the safety of radiation therapy with EDS. We identified all patients with EDS who received adjuvant conventional and hypofractionated breast radiation therapy at our institution and reviewed patient, treatment, and toxicity characteristics...

BACKGROUND: Ehlers-Danlos syndrome Type IV (aka Vascular Ehlers Danlos, or vEDS) is a dominantly inherited mutation in the Collagen 3A1 gene (COL3A1). The disease is characterized by tissue friability and age-related susceptibility to arterial aneurysm, dissection and rupture as well as uterine and bowl tears. These clinical manifestations result in major surgical intervention and decreased life expectancy. Understanding how mutations in COL3A1 impact the structure and function of the extracellular matrix (ECM) is important to managing the disease and finding treatments...

Patients with heritable connective tissue disorders (HCTDs), represented by Marfan syndrome, can develop fatal aortic and/or arterial complications before age 50. Therefore, accurate diagnosis, appropriate medical treatment, and early prophylactic surgical treatment of aortic and arterial lesions are essential to improve prognosis. Patients with HCTDs generally present with specific physical features due to connective tissue abnormalities, while some patients with heritable thoracic aortic diseases (HTADs) have few distinctive physical characteristics...

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Ehlers-Danlos syndromes (EDS) is an umbrella term describing 14 types, of which 13 are rare and monogenic, with overlapping features of joint hypermobility, skin, and vascular fragility, and generalised connective tissue friability. Hypermobile EDS currently has no identified genetic cause. Most of the rare monogenic EDS types can have neurological features, which are often part of major or minor diagnostic criteria for each type. This review aims to highlight the neurological features and other key characteristics of these EDS types...

The procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1) gene may affect arterial integrity through enzymatic roles and the modulation of vascular smooth muscle cells. This report presents a complicated vascular case in an eight-year-old male child with Ehlers-Danlos syndrome Type VI. The patient was diagnosed with a ruptured pseudoaneurysm of the infrarenal abdominal aorta. Endovascular treatment was performed using a covered self-expandable endograft (10 × 59 mm; Medtronic Endurant II)...