Volume 10, Issue 8 e6190
CASE IMAGE
Open Access

Giant internal carotid artery aneurysms and porcelain aorta in an elderly patient with Marfan syndrome

Hiroki Yagi

Corresponding Author

Hiroki Yagi

Department of Cardiovascular Medicine, The University of Tokyo Hospital, Tokyo, Japan

Marfan Syndrome Center, The University of Tokyo Hospital, Tokyo, Japan

Correspondence

Hiroki Yagi, Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.

Email: [email protected]

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Norifumi Takeda

Norifumi Takeda

Department of Cardiovascular Medicine, The University of Tokyo Hospital, Tokyo, Japan

Marfan Syndrome Center, The University of Tokyo Hospital, Tokyo, Japan

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Yumiko Hosoya

Yumiko Hosoya

Department of Therapeutic Strategy for Heart Failure, The University of Tokyo Hospital, Tokyo, Japan

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Haruo Yamauchi

Haruo Yamauchi

Marfan Syndrome Center, The University of Tokyo Hospital, Tokyo, Japan

Department of Cardiac Surgery, The University of Tokyo Hospital, Tokyo, Japan

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Issei Komuro

Issei Komuro

Department of Cardiovascular Medicine, The University of Tokyo Hospital, Tokyo, Japan

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First published: 09 August 2022
Citations: 1

Abstract

Marfan syndrome (MFS) an inherited disorder caused by FBN1 gene variants, is well known to cause lethal aortic aneurysm and dissections at a relatively young age. Here, we report giant internal carotid artery aneurysms (ICAAs) and porcelain aorta in an elderly patient with MFS.

The patient is a 79-year-old obese woman with a BMI of 31.6 and complicated with hypertension, dyslipidemia, and diabetes mellitus. At age 61, a CT scan identified chronic thoracoabdominal aortic dissection (TAAD) involving multiple visceral and cervical arteries and with severe calcification (porcelain aorta) (Figure 1A). At age 76, asymptomatic and marked enlarged bilateral internal carotid artery aneurysms (ICAAs) with tortuosity were incidentally depicted (Figure 1B), and conservative management was chosen because of her greater risk of surgical treatment. In April 2017, she was referred to our hospital and was diagnosed with Marfan syndrome (MFS) based on the presence of ectopia lentis and TAAD and a previously reported FBN1 pathogenic variant (c.1709G>C; p.Cys570Ser); however, she died suddenly due to an unknown cause a few months later. MFS is an autosomal dominant connective tissue disorder with a genetic predisposition to aortic aneurysms and dissections at a relatively young age.1 Recent advances in the medical and surgical management have improved life expectancy. ICAAs and porcelain aorta are rarely complicated in MFS;2 however, as the number of elderly patients increases, these unfamiliar late arterial complications might be kept in mind to develop more comprehensive management, because MFS arteries are considered to be easily influenced by lifestyle-related diseases.

Details are in the caption following the image
CT findings of the present case. (A) The severely calcified thoracoabdominal aorta image (left panel) with corresponding contrast-enhanced CT images (right panels). Arrowheads indicate aortic dissections. (B) Three-dimensional CT angiography. The right and left internal carotid arterial aneurysms were 22 and 56 mm in maximum diameter, respectively.

AUTHOR CONTRIBUTIONS

Hiroki Yagi (HY), Norifumi Takeda (NT), Yumiko Hosoya (YH), and Haruo Yamauchi (HY) were directly involved in the management of the case. Issei Komuro revised the manuscript critically for important intellectual content. All authors approved the content of the manuscript and confirmed the accuracy or integrity of any part of the work.

ACKNOWLEDGMENTS

None.

    FUNDING INFORMATION

    The authors have not declared a specific grant for this research from any funding agency in the public, commercial, or not-for-profit sectors.

    CONFLICT OF INTEREST

    The authors declare no conflict of interest.

    ETHICAL APPROVAL

    The genetic analysis was approved by the University of Tokyo Hospital ethics committee (G-1538), and this case report was conducted in accordance with the Declaration of Helsinki.

    CONSENT

    Written informed consent was obtained from the patient to use the data and pictures and publish this report in accordance with the journal's patient consent policy.

    DATA AVAILABILITY STATEMENT

    The data that support the findings of this study are available on request from the corresponding author.

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