Subclavian Artery Aneurysm in Marfan Syndrome

Morisaki, Koichi; Kobayashi, Masayoshi; Miyachi, Hideaki; Maekawa, Takashi; Tamai, Hiroaki; Takahashi, Noriko; Watanabe, Yoshio; Morimae, Hirofumi; Ihara, Takateru; Kodama, Akio; Narita, Hiroshi; Banno, Hiroshi; Yamamoto, Kazuhito; Komori, Kimihiro

doi:10.1016/j.avsg.2011.09.016

Cited by 16 publications

(14 citation statements)

References 14 publications

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“…Peripheral vascular aneurysms in patients with Marfan syndrome have been reported on rare occasions [ 5 , 22 – 24 ]. Bilateral popliteal aneurysms in MFS have been described on two occasions before [ 5 , 23 ], but in one of these studies, it was believed that autosomal dominant polycystic kidney disease (ADPKD) was the main contributor to this manifestation [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

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

Mohammad

Helmi

Atwal

2018

Case Reports in Genetics

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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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Section: Discussionmentioning

confidence: 99%

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

Mohammad

Helmi

Atwal

2018

Case Reports in Genetics

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“…Computed tomography is also considered necessary for diagnostic examination, particularly for intrathoracic aneurysms 4,18 . Notwithstanding, a more recent case report used angiotomography for diagnosis and for planning surgery in a patient who underwent this imaging examination to investigate Marfan syndrome 19 . Thus, while the greater part of the literature recommends angiography for planning surgery, for investigating whether there are distal occlusive lesions, and for assessing the extent of the aneurysm and the patency option or for patients in which the clinical conditions for major conventional surgical procedures are poor.…”

Section: Discussionmentioning

confidence: 99%

“…The majority of aneurysms of the subclavian artery are atherosclerotic (around 60%), other causes are related to Marfan syndrome or another connective tissue disease in around 10% of cases 1,4,12 . The histology of aneurysms linked with Marfan syndrome may or may not reveal cystic necrosis of the arterial tunica media 18,19 . In young patients, aneurysms in this topography may be traumatic, infectious, congenital or linked with the thoracic outlet syndrome or with repetitive rotational movements of the shoulder in athletes 1,3,4,7,19 .…”

Section: Discussionmentioning

confidence: 99%

“…The histology of aneurysms linked with Marfan syndrome may or may not reveal cystic necrosis of the arterial tunica media 18,19 . In young patients, aneurysms in this topography may be traumatic, infectious, congenital or linked with the thoracic outlet syndrome or with repetitive rotational movements of the shoulder in athletes 1,3,4,7,19 . Aneurysms of the axillary artery are extremely rare in the literature.…”

Section: Discussionmentioning

confidence: 99%

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Subclavian and axillary arterial aneurysms: two case reports

Esteves¹,

Ferreira²,

Santos

et al. 2013

J. vasc. bras.

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Aneurysms of the subclavian-axillary segment are rare, but when diagnosed they must be treated. This article describes two cases of aneurysms of the upper extremities, one in a subclavian artery and the other in an axillary artery. The first case was a 71-year-old male with a pulsating supraclavicular bulge on the right and muscle weakness in the ipsilateral extremity. Duplex scanning and arteriography confirmed the diagnosis of aneurysm of the right subclavian artery and the patient underwent aneurysmectomy and end-to-end anastomosis. The second case was a 24-year-old female patient, with no history of comorbidities, who presented with a pulsating mass in the right axillary region and paresthesia of the ipsilateral extremity. Duplex scanning and arteriography confirmed an aneurysm in the right axillary artery, which was successfully treated with aneurysmectomy and end-to-end anastomosis. Pathology findings showed that the first case was an atherosclerotic aneurysm and the second was a congenital aneurysm.Keywords: aneurysm; subclavian artery; axillary artery; surgery. ResumoOs aneurismas do segmento subclávio-axilar são de ocorrência rara e, uma vez diagnosticados, devem ser tratados. Neste trabalho, relatamos dois casos de aneurismas de membros superiores, sendo um da artéria subclávia e outro da artéria axilar. No primeiro caso, o paciente de 71 anos, sexo masculino, apresentava abaulamento pulsátil supraclavicular direito associado à fraqueza muscular no membro ipsilateral. Foram realizados duplex scan e arteriografia, que confirmaram o diagnóstico de aneurisma da artéria subclávia direita, sendo o paciente submetido à aneurismectomia com anastomose término-terminal. No segundo caso, uma paciente de 24 anos, do sexo feminino, sem antecedentes mórbidos ou comorbidades, apresentava queixa de massa pulsátil na região axilar direita associada à parestesia no membro ipsilateral. O duplex scan e a arteriografia confirmaram o aneurisma da artéria axilar direita, que foi tratado com aneurismectomia e anastomose término-terminal com

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“…Arterial involvement is widespread in patients with Loeys-Dietz syndrome; although all arterial territories can be involved, the vessels in the head and neck region are more frequently affected, and aneurysm formation, dissection, stenosis, and general tortuosity have been described [59,60]. For all these hereditary diseases, the spectrum of vascular complications is broad, and they have been located in many arterial territories, including the arteries of the upper extremities [61][62][63].…”

Section: Connective Tissue Disordersmentioning

confidence: 99%