scholarly journals A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family

2017 ◽  
Vol 51 (3) ◽  
pp. 141-145 ◽  
Author(s):  
Francesca Cortini ◽  
Barbara Marinelli ◽  
Silvia Romi ◽  
Agostino Seresini ◽  
Angela Cecilia Pesatori ◽  
...  
Keyword(s):  
Collagen Type ◽  
Genetic Test ◽  
Connective Tissue Disorder ◽  
Incomplete Penetrance ◽  
Collagen Type Iii ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Col3a1 Gene ◽  
Danlos Syndrome ◽  
Generation Sequencing

Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain ( COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance.

Vascular Ehlers-Danlos syndrome presenting in the ICU as aneurysmal subarachnoid haemorrhage

2021 ◽  
Vol 14 (7) ◽  
pp. e243132
Author(s):  
Inês Pimenta ◽  
Rita Varudo ◽  
Filipa Castelao ◽  
Filipe André Gonzalez
Keyword(s):  
Subarachnoid Haemorrhage ◽  
Medical History ◽  
Type Iii Collagen ◽  
Aneurysmal Subarachnoid Haemorrhage ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Gene Coding ◽  
Col3a1 Gene ◽  
Life Threatening ◽  
Danlos Syndrome

Vascular Ehlers-Danlos syndrome is caused by mutations of COL3A1 gene coding for type III collagen. The main clinical features involve a propensity to arterial tears leading to several life-threatening conditions and intensive care unit admission. We, herein, report the case of a 34-year-old woman presenting with an aneurysmal subarachnoid haemorrhage. Endovascular coil treatment was attempted; however, the procedure was complicated by dissection of the left iliac artery and abdominal aorta. Hospital management was marked by a series of vascular and haemorrhagic complications. These events, together with some distinctive physical features and medical history, raised the suspicion of vascular type of Ehlers-Danlos syndrome. Neurological evolution was not favourable, and the patient evolved to brain death. Genetic testing was available postmortem and identified a mutation in the COL3A1 gene. This case illustrates the importance of medical history and clinical suspicion for diagnosis, which often goes unnoticed until major complications occur.

scholarly journals Ehlers-Danlos Syndrome Type IV, Vascular Type, Which Demonstrated a Novel Point Mutation in the COL3A1 Gene

2010 ◽  
Vol 49 (16) ◽  
pp. 1797-1800 ◽  
Author(s):  
Rinako Sadakata ◽  
Atsushi Hatamochi ◽  
Keiji Kodama ◽  
Akiko Kaga ◽  
Takefumi Yamaguchi ◽  
...  
Keyword(s):  
Point Mutation ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Vascular Type ◽  
Col3a1 Gene ◽  
Danlos Syndrome

scholarly journals Pediatric Innominate Artery Pseudoaneurysm Rupture in Vascular Ehlers-Danlos Syndrome: A Case Report

2021 ◽  
Vol 2 (5) ◽  
pp. 226-229
Author(s):  
Aimee Vos ◽  
Katharine Burns
Keyword(s):  
Case Report ◽  
Innominate Artery ◽  
Final Diagnosis ◽  
Connective Tissue Disorder ◽  
High Morbidity ◽  
Ehlers Danlos Syndrome ◽  
Artery Pseudoaneurysm ◽  
Type Iv ◽  
Vascular Type ◽  
Danlos Syndrome

Introduction: Ehlers-Danlos syndrome is a well classified connective tissue disorder recognized by its features of hyperextensibility of joints and hyperelasticity of the skin. However, the rare vascular type (Ehlers-Danlos type IV) is more difficult to identify in the absence, rarity, or subtlety of the classical physical features. Patients presenting to the emergency department (ED) with acute complications of vascular Ehlers-Danlos syndrome may be critically ill, requiring accurate diagnosis and tailored management. Case Report: This report details a case of spontaneous innominate artery pseudoaneurysm rupture in a pediatric patient with previously undiagnosed Ehlers-Danlos syndrome. Initial ED evaluation was followed by urgent operative intervention and subsequent genetic testing to confirm final diagnosis. Conclusion: Due to its high morbidity and mortality, vascular type Ehlers-Danlos syndrome should be considered in the differential for otherwise unexplained spontaneous vascular injury.

scholarly journals Compound phenotype of osteogenesis imperfecta and Ehlers–Danlos syndrome caused by combined mutations in COL1A1 and COL5A1

2019 ◽  
Vol 39 (7) ◽  
Author(s):  
Zejia Lin ◽  
Jican Zeng ◽  
Xinjia Wang
Keyword(s):  
Osteogenesis Imperfecta ◽  
Collagen Type ◽  
Collagen Type I ◽  
Connective Tissue Disorder ◽  
Type I ◽  
Ehlers Danlos Syndrome ◽  
Pathogenic Mutations ◽  
Whole Exome ◽  
Type V ◽  
Danlos Syndrome

Abstract Osteogenesis imperfecta (OI) is an inherited connective tissue disorder with a broad clinical spectrum that can overlap with Ehlers–Danlos syndrome (EDS). To date, patients with both OI and EDS have rarely been reported. In the present study, we investigated a family with four members, one healthy individual, one displaying OI only, and two displaying the compound phenotype of OI and EDS, and identified the pathogenic mutations. Whole exome sequencing was applied to the proband and her brother. To verify that the mutations were responsible for the pathogenesis, conventional Sanger sequencing was performed for all members of the family. We identified a known COL1A1 (encoding collagen type I α 1 chain) mutation (c.2010delT, p.Gly671Alafs*95) in all three patients (the proband, her brother, and her mother) in this family, but also a novel heterozygous COL5A1 (encoding collagen type V α 1 chain) mutation (c.5335A>G, p.N1779D) in the region encoding the C-terminal propeptide domain in the proband and her mother, who both had the compound phenotype of OI and EDS. The results of the present study suggested that the proband and her mother presented with the compound OI–EDS phenotype caused by pathogenic mutations in COL5A1 and COL1A1.

scholarly journals VASCULAR EHLERS-DANLOS SYNDROME IN A 38-YEAR-OLD WOMAN

2018 ◽  
pp. 105-108
Author(s):  
E. G. Malayeva ◽  
E. E. Karpenko ◽  
E. V. Tsitko
Keyword(s):  
Connective Tissue ◽  
Autosomal Dominant ◽  
Specific Treatment ◽  
Autosomal Dominant Disorder ◽  
Ehlers Danlos Syndrome ◽  
Clinical Criteria ◽  
Vascular Type ◽  
Col3a1 Gene ◽  
Danlos Syndrome ◽  
Procollagen Iii

Vascular Ehlers-Danlos syndrome is a rare inherited autosomal dominant disorder of connective tissue caused by a mutation in the procollagen III gene (COL3A1 gene). Among all the types of the disease the vascular type involves ~5-10% of cases. The diagnosis is based on clinical criteria and mutations in the COL3A1 gene. The treatment of Ehlers-Danlos syndrome is symptomatic, there is no specific treatment.

scholarly journals Hemodynamic Instability after Low-Energy Thigh Contusion Caused by Injury to the Femoral Artery: A Case Report and Literature Review

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Juan Miguel Rodríguez-Roiz ◽  
José Ballesteros-Betancourt ◽  
Raquel García-Tarriño ◽  
Victor Antonio Rodríguez-Roiz ◽  
Manuel Llusa
Keyword(s):  
Hemodynamic Instability ◽  
High Energy ◽  
Low Energy ◽  
Haemodynamic Instability ◽  
Vessel Occlusion ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Vascular Type ◽  
Col3a1 Gene ◽  
Danlos Syndrome

Acute vascular injuries have been described in relation to high-energy trauma accidents or in patients undergoing surgery in the femoral area. We describe a healthy patient who sustained a direct, low-energy contusion in the thigh and presented haemodynamic instability. Arteriography was used to locate the point of bleeding, and embolisation and vessel occlusion were carried out to stop the haemorrhage. The genetic study identified the COL3A1 gene mutation; accordingly, the patient was diagnosed with the Ehlers-Danlos syndrome type IV (vascular type).

scholarly journals Spontaneous Dissection of the Renal Artery in Vascular Ehlers-Danlos Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Filipa Pereira ◽  
Teresa Cardoso ◽  
Paula Sá
Keyword(s):  
Renal Artery ◽  
Cardiopulmonary Arrest ◽  
Fatal Outcome ◽  
Vascular Complication ◽  
Autosomal Dominant Disorder ◽  
Ehlers Danlos Syndrome ◽  
Vascular Type ◽  
Recent Diagnosis ◽  
The Right ◽  
Danlos Syndrome

Ehlers-Danlos syndrome(EDS) is a rare heterogeneous group of connective tissue disorders. The vascular type (vEDS) is an autosomal dominant disorder caused by heterozygous mutations in theCOL3A1gene predisposing to premature arterial, intestinal, or uterine rupture. We report a case of a 38-year-old woman with a recent diagnosis of vEDS admitted in the Emergency Department with a suspicion of a pyelonephritis that evolved to a cardiopulmonary arrest. A fatal retroperitoneal hematoma related with a haemorrhagic dissection of the right renal artery was found after emergency surgery. This case highlights the need to be aware of the particular characteristics of vEDS, such as a severe vascular complication that can lead to a fatal outcome.

Early and Late Outcomes of Cardiovascular Surgery in Patients With Ehlers-Danlos Syndrome

2021 ◽  
Vol 12 (6) ◽  
pp. 773-777
Author(s):  
Mohamed F. Elsisy ◽  
Alberto Pochettino ◽  
Joseph A. Dearani ◽  
Thomas C. Bower ◽  
Robert D. McBane ◽  
...  
Keyword(s):  
Surgical Outcomes ◽  
Time Frame ◽  
Ehlers Danlos Syndrome ◽  
Vital Status ◽  
Type Iv ◽  
Vascular Type ◽  
Baseline Characteristics ◽  
Danlos Syndrome ◽  
Adult Cardiac Surgery

Background Cardiovascular surgical outcomes reports are few for vascular type IV of Ehlers- Danlos Syndrome (vEDS) compared to non-vascular types I-III (nEDS). Methods To define cardiovascular surgical outcomes among adult patients (≥18 years) with EDS types, a review of our institution's in-house STS Adult Cardiac Surgery Database-compliant software and electronic medical records from Mayo Clinic (1993–2019) was performed. Outcomes were compared for vEDS patients and nEDS patients. Demographics, baseline characteristics, operative, in-hospital complications and follow-up vital status were analyzed. Results Over the study time frame, 48 EDS patients underwent surgery (mean age 52.6 ± 14.6 years; 48% females). Of these, 17 patients had vEDS and 31 patients had nEDS. Six patients (12.5%) underwent prior sternotomy. Urgent or emergent surgery was performed in 10 patients (20.8%). Aortic (vEDS 76.5% vs. nEDS 16.1%) and mitral procedures (vEDS 11.8% vs. nEDS 48.4%) were the two most common cardiovascular surgeries performed (p < .01 and p = .007, respectively). Cardiopulmonary bypass time (CPB) (165 ± 18 vs. 90 ± 13 min; p = .015) and aortic cross clamp times (140 ± 14 vs. 62 ± 10 min; p < .001) were longer for vEDS patients. There was 1 (2.1%) early and 7 (14.6%) late deaths; 6 among vEDS and 2 among nEDS patients. Survival at 5 (80% vs. 93%), 10 (45% vs. 84%) and 15 years (45% vs. 84%) was lower in patients with vEDS (p = .015 for each comparison). Conclusion Cardiovascular surgeries are significantly more complex with longer bypass and cross clamp times for type IV vEDS compared to nEDS patients. Reduced overall survival underscores the complexity and fragility of vEDS patients.

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