Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm

We present a 43-year-old man with aortic root dilation, mitral valve prolapse, and marfanoid appearance, who presented with acute onset left leg pain. He underwent a Doppler ultrasound that revealed left popliteal artery aneurysm with thrombus. CT angiogram showed bilateral popliteal artery aneurysms. After repairing of his left popliteal artery aneurysm, he was sent for genetic evaluation. He was diagnosed with Marfan syndrome (MFS) based on the revised Ghent criteria and then underwent FBN1 sequencing and deletion/duplication analysis, which detected a novel pathogenic variant in gene FBN1, denoted by c.5872 T>A (p.Cys1958Ser). MFS is a connective tissue disorder with an autosomal dominant inheritance due to pathogenic variants in FBN1 that encodes Fibrillin-1, a major element of the extracellular matrix, and connective tissue throughout the body. MFS involves multiple systems, most commonly the cardiovascular, musculoskeletal, and visual systems. In our case we present a rare finding of bilateral popliteal artery aneurysms in a male patient with MFS.

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Thrombosis of popliteal artery aneurysm with cutaneous microembolism of toes

International Surgery Journal ◽

10.18203/2349-2902.isj20195147 ◽

2019 ◽

Vol 6 (11) ◽

pp. 4167

Author(s):

Harilal Nambiar ◽

Robin George Manappallil ◽

Pramod Valayanad ◽

Anoop Madayambath

Keyword(s):

Popliteal Artery ◽

Lower Limb ◽

Artery Aneurysm ◽

Acute Onset ◽

Limb Pain ◽

Popliteal Artery Aneurysm ◽

Popliteal Entrapment ◽

Lower Limb Pain ◽

History Of ◽

Aneurysm Repair

Popliteal artery aneurysms (PAAs) are rare, and usually affect men over 60 years of age with established cardiovascular disease due to atherosclerosis. They can also be congenital or can occur due to trauma, mycotic aneurysm, popliteal entrapment or inflammatory arteritis. This is a case of a 95 year old male, with history of recent subdural hematoma, who presented with acute onset right lower limb pain and edema. He was found to have right PAA with thrombosis which was throwing cutaneous microemboli to the toes. He underwent open aneurysm repair with Dacron graft and thrombectomy and improved.

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Unusual source of fever: the curious case of an infected arterial stent graft presenting as a ruptured popliteal artery aneurysm

BMJ Case Reports ◽

10.1136/bcr-2020-239272 ◽

2021 ◽

Vol 14 (2) ◽

pp. e239272

Author(s):

Emily Kate Edwina Schmidt ◽

Sherab Bhutia

Keyword(s):

Stent Graft ◽

Popliteal Artery ◽

Graft Infection ◽

Artery Aneurysm ◽

Previous Treatment ◽

Large Collection ◽

Popliteal Artery Aneurysm ◽

Ct Angiogram ◽

Initial Intervention ◽

History Of

A 71-year-old man presented to the emergency department with a 1-week history of lethargy, general malaise and intermittent high fever. He had presented 18 months ago, and again 12 months earlier with similar symptoms. On this third presentation, the fever was accompanied by right thigh swelling and pain. The patient was referred to the vascular surgeons with concern regarding an infected vascular stent graft from previous treatment of popliteal artery aneurysms (PAA) 8 years earlier. CT angiogram demonstrated a collapsed right PAA sac with a large collection, consistent with ruptured PAA, and a single gas bubble around the indwelling stent graft. The patient recovered well after a course of antibiotics and surgical explantation of the graft. Infection is a potential complication of any implanted arterial advice, and needs to be considered even years after initial intervention and with no localising symptoms.

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Successful Endovascular Repair of a Ruptured Popliteal Artery Aneurysm: A Case Report and Literature Review

Case Reports in Vascular Medicine ◽

10.1155/2020/8745780 ◽

2020 ◽

Vol 2020 ◽

pp. 1-5

Author(s):

Duncan Muir ◽

Sachin R. Kulkarni

Keyword(s):

Case Report ◽

Literature Review ◽

Stent Graft ◽

Popliteal Artery ◽

Case Reports ◽

Artery Aneurysm ◽

Popliteal Artery Aneurysm ◽

Ct Angiogram ◽

Endovascular Approach

Introduction. It is rare for a popliteal artery aneurysm (PAA) to present with rupture. This case reports a longer-term success in the management of a large ruptured popliteal artery aneurysm with an endovascular approach, with a literature review of management of such cases. Case Report. An 80-year-old man presented to the accident and emergency department with pain and swelling behind the left knee and at the back of the thigh. An ultrasound scan and subsequent CT angiogram revealed a large 9.4 cm ruptured PAA. The patient had significant comorbidities deeming him unfit for a major surgical intervention of drainage of haematoma and exclusion bypass. Therefore, he underwent urgent endovascular treatment of the ruptured PAA with a covered stent graft. A follow-up duplex scan at 1 year showed a patent stent with no evidence of endoleak, and the patient remained asymptomatic. A clinical follow-up at 18- and 24-month postprocedure showed a patent stent graft and complete resolution of haematoma. Conclusion. Whilst open repair with exclusion bypass may still be a treatment of choice, an endovascular approach is both safe and effective in the management of a ruptured PAA in an unfit patient with an acceptable longer-term outcome.

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