Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency

Makoto Hibino; Yoshimasa Sakai; Wataru Kato; Keisuke Tanaka; Kazuyoshi Tajima; Takehiko Yokoyama; Mitsuji Iwasa; Hiroko Morisaki; Toyonori Tsuzuki; Akihiko Usui

doi:10.1016/j.athoracsur.2017.08.041

Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency

Makoto Hibino, Yoshimasa Sakai, Wataru Kato, Keisuke Tanaka, Kazuyoshi Tajima, Takehiko Yokoyama, Mitsuji Iwasa, Hiroko Morisaki, Toyonori Tsuzuki, Akihiko Usui

Research output: Contribution to journal › Article › peer-review

7 Citations (Scopus)

Abstract

EFEMP2 (alias FBLN4) encodes extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B and leads to severe aortopathy with aneurysm formation and vascular tortuosity. A 4-month-old child presented with a large ascending aortic aneurysm, and genetic testing revealed an EFEMP2 mutation. We achieved successful repair of the ascending aortic aneurysm at 33 months of age and report the macroscopic and microscopic findings.

Original language	English
Pages (from-to)	e59-e61
Journal	Annals of Thoracic Surgery
Volume	105
Issue number	2
DOIs	https://doi.org/10.1016/j.athoracsur.2017.08.041
Publication status	Published - 02-2018
Externally published	Yes

All Science Journal Classification (ASJC) codes

Surgery
Pulmonary and Respiratory Medicine
Cardiology and Cardiovascular Medicine

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10.1016/j.athoracsur.2017.08.041

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title = "Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency",

abstract = "EFEMP2 (alias FBLN4) encodes extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B and leads to severe aortopathy with aneurysm formation and vascular tortuosity. A 4-month-old child presented with a large ascending aortic aneurysm, and genetic testing revealed an EFEMP2 mutation. We achieved successful repair of the ascending aortic aneurysm at 33 months of age and report the macroscopic and microscopic findings.",

author = "Makoto Hibino and Yoshimasa Sakai and Wataru Kato and Keisuke Tanaka and Kazuyoshi Tajima and Takehiko Yokoyama and Mitsuji Iwasa and Hiroko Morisaki and Toyonori Tsuzuki and Akihiko Usui",

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doi = "10.1016/j.athoracsur.2017.08.041",

language = "English",

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T1 - Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency

AU - Hibino, Makoto

AU - Sakai, Yoshimasa

AU - Kato, Wataru

AU - Tanaka, Keisuke

AU - Tajima, Kazuyoshi

AU - Yokoyama, Takehiko

AU - Iwasa, Mitsuji

AU - Morisaki, Hiroko

AU - Tsuzuki, Toyonori

AU - Usui, Akihiko

PY - 2018/2

Y1 - 2018/2

N2 - EFEMP2 (alias FBLN4) encodes extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B and leads to severe aortopathy with aneurysm formation and vascular tortuosity. A 4-month-old child presented with a large ascending aortic aneurysm, and genetic testing revealed an EFEMP2 mutation. We achieved successful repair of the ascending aortic aneurysm at 33 months of age and report the macroscopic and microscopic findings.

AB - EFEMP2 (alias FBLN4) encodes extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B and leads to severe aortopathy with aneurysm formation and vascular tortuosity. A 4-month-old child presented with a large ascending aortic aneurysm, and genetic testing revealed an EFEMP2 mutation. We achieved successful repair of the ascending aortic aneurysm at 33 months of age and report the macroscopic and microscopic findings.

UR - https://www.scopus.com/pages/publications/85041291286

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M3 - Article

C2 - 29362193

AN - SCOPUS:85041291286

SN - 0003-4975

VL - 105

SP - e59-e61

JO - Annals of Thoracic Surgery

JF - Annals of Thoracic Surgery

IS - 2

ER -

Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency

Abstract

All Science Journal Classification (ASJC) codes

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