A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome

Shalhub, Sherene; Byers, Peter H.; Hicks, Kelli L.; Charlton-Ouw, Kristofer M.; Zarkowsky, Devin S.; Coleman, Dawn M.; Davis, Frank M.; Regalado, Ellen S.; Caridi, Giovanni De; Weaver, K. Nicole; Miller, Erin; Schermerhorn, Marc L.; Shean, Katie E.; Oderich, Gustavo S.; Ribeiro, Maurício Serra; Nishikawa, C; Behrendt, Christian‐Alexander; Debus, Eike Sebastian; Kodolitsch, Yskert Von; Powell, Richard J.; Pepin, Melanie; Milewicz, Dianna M.; Lawrence, Peter F.; Woo, Karen

doi:10.1016/j.jvs.2019.01.069

Cited by 51 publications

(43 citation statements)

References 29 publications

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“…1 Shalhub et al reported that 17.6% of patients with Ehlers-Danlos syndrome had type B aortic dissection. 8 The patient tested negative for a mutation in COL3A1 as well. Furthermore, genetic testing for familial thoracic aortic aneurysm and dissection was also performed, yielding negative results.…”

Section: Discussionmentioning

confidence: 99%

A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy

Hamandi

Bolin

Fan

et al. 2020

Journal of Investigative Medicine High Impact Case Reports

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Section: Discussionmentioning

confidence: 99%

A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy

Hamandi

Bolin

Fan

et al. 2020

Journal of Investigative Medicine High Impact Case Reports

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“…Patients requiring a vascular intervention has been reported to be 34 years [IQR,22 to 40]). 14 The age of EDS patients suffering an aortic/ vascular events was 41 years [IQR, 31 to 49.5]) 15 and those requiring vascular surgery was 28.5 ± 11 years). 2 This age difference may in part reflect the exclusion of pediatric patients in our cohort.…”

Section: Discussionmentioning

confidence: 99%

“…1-,5-,10-year survival estimated by KM were 100%, 93% and 84% in nEDS group and 88%, 80% and 44% in vEDS group, respectively. A multi-center study 15 evaluated late survival of patients with vEDS with or without aortic/arterial pathologies, recognized that there were 13 late death in patients with vEDS with aortic/arterial pathologies and no deaths in patients without aortic/arterial pathologies. Cumulative Survival was 90% at 40 years of age, 75% at 50 years of age and 70% at years of age.…”

Section: Discussionmentioning

confidence: 99%

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

Elsisy

Pochettino

Dearani

et al. 2021

World J Pediatr Congenit Heart Surg

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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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“…Therefore, surgery remains controversial in this condition, and most patients are conservatively managed. 27…”

Section: Lower Thresholds In Associated Conditionsmentioning

confidence: 99%

Thoracic aortic aneurysm: Optimal surveillance and treatment

Wang

Desai

2020

CCJM

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Aneurysm of the thoracic aorta is less common than in the abdominal aorta, but it is clinically important because of the risk of rupture and death. Cases are often found incidentally. Indications for surgical or endovascular repair are based on aneurysm location and risk factors for rupture such as aneurysm size, rate of growth, and associated conditions, while medical management is also important. Surveillance with various imaging tests is critical before and after intervention to guide treatment. KEY POINTS Patients with bicuspid aortic valve or genetic syndromes such as Marfan syndrome are at higher risk, with lower thresholds for surgical intervention, but account for only a minority of cases. Although echocardiography has some roles in screening and monitoring the aortic root and ascending aorta, computed tomography and magnetic resonance imaging are necessary for the complete assessment of the thoracic aorta and are often necessary for surveillance. Guidelines from several professional societies are available regarding surveillance and indications for intervention. Patients with thoracic aortic aneurysm require multidisciplinary care, including a cardiologist and possibly a cardiovascular surgeon and genetic counselor. Medical care includes traditional cardiovascular risk factor management. Beta-blockers are often used to control blood pressure but should be used with caution in those with acute aortic valve regurgitation.

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A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome

Cited by 51 publications

References 29 publications

A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy

A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy

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

Thoracic aortic aneurysm: Optimal surveillance and treatment

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