Echocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up

doi:10.37015/AUDT.2021.200070

Advanced Ultrasound in Diagnosis and Therapy ›› 2021, Vol. 5 ›› Issue (3): 249-253.doi: 10.37015/AUDT.2021.200070

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Echocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up

Jianping Xu, MS^a, Faping Cui, MS^b, Shuixiu Dou, MS^c, Jiafu Ou, MD^d^,^*()

^aDepartment of Ultrasound, The First Hospital of Shanxi Medical University, Taiyuan, Shanxi, China
^bDepartment of Radiology, The 985 Hospital of PLA, Taiyuan, Shanxi, China
^cUltrasonic Diagnostic Center, Shaanxi Provincial People's Hospital, Xian, Shanxi, China
^dCardiology Division, Department of Internal Medicine, Washington University in St. Louis, St. Louis, MO, USA

Received:2020-11-26 Revised:2021-04-10 Online:2021-09-30 Published:2021-08-31
Contact: Jiafu Ou, MD, E-mail:jou@wustl.edu

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Abstract

Abstract:

A case of Marfan syndrome was followed up by echocardiography for 13 years to observe the evolution of cardiovascular disease. The initial cardiovascular manifestations of this patient were "mitral myxoid degeneration, chordal rupture, leaflet prolapse, and massive regurgitation". Subsequently, after several years of development, the aortic sinus and ascending aortic aneurysm dilatation appeared and a new gene mutation site G4331A of FBN1 was found by genetic testing in this patient. Whether the new gene mutation site is related to the initial manifestation of the patient's cardiovascular disease with "mitral valve disease" remains to be further verified.

Key words: Echocardiography; Marfan syndrome; FBN1 genes; New mutation

Jianping Xu, MS, Faping Cui, MS, Shuixiu Dou, MS, Jiafu Ou, MD. Echocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up. Advanced Ultrasound in Diagnosis and Therapy, 2021, 5(3): 249-253.

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Echocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up

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