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

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". Subseque...

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Autor principal:	Jianping Xu, MS, Faping Cui, MS, Shuixiu Dou, MS, Jiafu Ou, MD
Formato:	article
Lenguaje:	EN
Publicado:	Editorial Office of Advanced Ultrasound in Diagnosis and Therapy 2021
Materias:	\|echocardiography\|marfan syndrome\|fbn1 genes\|new mutation Medical technology R855-855.5 Medicine R
Acceso en línea:	https://doaj.org/article/edf35f001cb04c22adfb2d650a3a32f7
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spelling	oai:doaj.org-article:edf35f001cb04c22adfb2d650a3a32f72021-11-05T08:34:43ZEchocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up2576-251610.37015/AUDT.2021.200070https://doaj.org/article/edf35f001cb04c22adfb2d650a3a32f72021-09-01T00:00:00Zhttp://www.journaladvancedultrasound.com:81/fileup/2576-2516/PDF/1630472707273-1791981006.pdfhttps://doaj.org/toc/2576-2516A 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.Jianping Xu, MS, Faping Cui, MS, Shuixiu Dou, MS, Jiafu Ou, MDEditorial Office of Advanced Ultrasound in Diagnosis and Therapyarticle\|echocardiography\|marfan syndrome\|fbn1 genes\|new mutationMedical technologyR855-855.5MedicineRENAdvanced Ultrasound in Diagnosis and Therapy, Vol 5, Iss 3, Pp 249-253 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	\|echocardiography\|marfan syndrome\|fbn1 genes\|new mutation Medical technology R855-855.5 Medicine R
spellingShingle	\|echocardiography\|marfan syndrome\|fbn1 genes\|new mutation Medical technology R855-855.5 Medicine R 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
description	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.
format	article
author	Jianping Xu, MS, Faping Cui, MS, Shuixiu Dou, MS, Jiafu Ou, MD
author_facet	Jianping Xu, MS, Faping Cui, MS, Shuixiu Dou, MS, Jiafu Ou, MD
author_sort	Jianping Xu, MS, Faping Cui, MS, Shuixiu Dou, MS, Jiafu Ou, MD
title	Echocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up
title_short	Echocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up
title_full	Echocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up
title_fullStr	Echocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up
title_full_unstemmed	Echocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up
title_sort	echocardiography of marfan's syndrome patient with new gene mutation of fbn1 with 13-year follow-up
publisher	Editorial Office of Advanced Ultrasound in Diagnosis and Therapy
publishDate	2021
url	https://doaj.org/article/edf35f001cb04c22adfb2d650a3a32f7
work_keys_str_mv	AT jianpingxumsfapingcuimsshuixiudoumsjiafuoumd echocardiographyofmarfanssyndromepatientwithnewgenemutationoffbn1with13yearfollowup
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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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