Cardiovascular manifestations of type IV Ehlers-Danlos syndrome – A case report

Santos, Tiago Sepúlveda; Marçal, Rita; Moldovan, Oana Teodora; Carvalho, Leonor; Ducla-Soares, J.L.

doi:10.1016/j.repc.2019.05.017

Cited by 3 publications

(1 citation statement)

References 13 publications

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“…A clinical feature of this patient that is only very rarely described in vascular Ehlers–Danlos syndrome was the formation of extensive multiple thromboses. Only two previous case reports have been identified; in one, multiple arterial and venous thrombi were found 5 ; in a further report, a 24-year-old female with vascular Ehlers–Danlos syndrome was found to have a deep vein thrombosis; however, this was due to compression by a large posterior tibial artery pseudoaneurysm. 6 In our case, no external compressive or local factors were found to explain the formation of thromboses.…”

Section: Discussionmentioning

confidence: 97%

Familial hepatic rupture in vascular Ehlers–Danlos syndrome in pregnancy with atypical thromboses

Patel,

Neville,

Kumar

et al. 2023

JRSM Open

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Section: Discussionmentioning

confidence: 97%

Familial hepatic rupture in vascular Ehlers–Danlos syndrome in pregnancy with atypical thromboses

Patel,

Neville,

Kumar

et al. 2023

JRSM Open

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Vascular Ehlers-Danlos syndrome

Marques

2022

Revista Portuguesa de Cardiologia

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Ballooning and Bursting of Barrels and Pipes: A Rare Case of Suspected Vascular Ehlers–Danlos Disease

Agogbuo,

Kanuri,

Salinas

et al. 2024

Cardiogenetics

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Vascular Ehler–Danlos disease (vEDS), a rare subtype of a rare disease, is a life-threatening disease, with an increased risk for spontaneous vascular or visceral rupture. These patients have fatal complications ranging from vascular aneurysms, dissection, and rupture of systemic vessels to frequent thromboembolic events, the common causes of death in these individuals with a shortened life span. In the present case, a 28-year-old male with history of shoulder dislocations and spontaneous colon perforation presented to the primary care clinic with right lower extremity swelling and pain. His history includes presentation to the emergency department with left lower leg swelling with compartment syndrome one year prior. A CT angiogram of lower extremities and abdomen revealed acute arterial extravasation of the left posterior tibial artery, indicating a ruptured aneurysm along with aneurysms of the splenic artery and left common iliac artery. He was treated with a saphenous vein graft, but was associated with post-operative complications that necessitated below-knee amputation. CT angiogram of his right leg revealed occlusion of the anterior tibial and peroneal arteries with aneurysms, and, ultimately, he was referred to a tertiary care center for aneurysm embolization. This case report emphasizes the frequent vascular complications encountered in vascular EDS patients, and thus advocates for close and regular monitoring for early referral and surgical management of their vascular anomalies. Finally, genetic counseling and screening of asymptomatic family members should be routinely implemented in these patients.

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Cardiovascular manifestations of type IV Ehlers-Danlos syndrome – A case report

Cited by 3 publications

References 13 publications

Familial hepatic rupture in vascular Ehlers–Danlos syndrome in pregnancy with atypical thromboses

Familial hepatic rupture in vascular Ehlers–Danlos syndrome in pregnancy with atypical thromboses

Vascular Ehlers-Danlos syndrome

Ballooning and Bursting of Barrels and Pipes: A Rare Case of Suspected Vascular Ehlers–Danlos Disease

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