Asymmetrical aortic root aneurism in patient with Filamin A mutation

Sofia Martin‐Suarez; Gregorio Gliozzi; Vincenzo PaganoOrnella LeoneAlberto FoàAndrea RuggieroSilvia SnaideroElisa CerchieriniDavide Pacini

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Asymmetrical aortic root aneurism in patient with Filamin A mutation

机译：Asymmetrical aortic root aneurism in patient with Filamin A mutation

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Abstract We report the case of a 28 years old woman with periventricular nodular heterotopia, due to Filamin A mutation. She had an asymmetrical aneurysm of the aortic root, involving, above all, noncoronary Valsalva sinus. She was asymptomatic and she had moderate aortic regurgitation. Reimplantation of the aortic valve with replacement of the aortic root was successfully accomplished. Filamin A is a protein that is encoded by the FLNA gene, which shows X‐linked dominant inheritance. This protein is involved in neuronal migration, angiogenesis, cytoskeleton regulation, and cell signaling. Therefore, mutations of FLNA gene might result in brain, blood vessels, heart, and connective tissue disorders. A miscellany of cardiovascular abnormalities could be present in this subset of patients; cardiac symptoms may precede neurological manifestations. Aorta seems to be frequently affected. Consequently, in presence of FLNA gene mutations, cardiovascular evaluation should include vascular magnetic resonance imaging or computed tomography scan.

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《Journal of cardiac surgery.》 |2022年第10期|3408-3412|共5页
作者
Sofia Martin‐Suarez; Gregorio Gliozzi; Vincenzo PaganoOrnella LeoneAlberto FoàAndrea RuggieroSilvia SnaideroElisa CerchieriniDavide Pacini;
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作者单位

Cardiovascular Pathology Unit, Department of Pathology, IRCCS, St. Orsola Hospital,University of;

Cardiology Department, IRCCS, St. Orsola Hospital,University of Bologna;

Division of Cardiac Surgery, IRCCS, St. Orsola Hospital,University of BolognaAnaesthesiology Unit, Department of Cardiothoracic Surgery, IRCCS, St. Orsola Hospital,University;

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正文语种英语
中图分类心脏血管和淋巴系外科学;
关键词
aortic aneurysm; Filamin A; reimplantation procedure;

Asymmetrical aortic root aneurism in patient with Filamin A mutation

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