Autosomal recessive cutis laxa type Ib—Successful redo aortic root and arch replacement

We present an adolescent girl with a highly stenotic ascending aortic conduit of her former during infancy corrected giant aneurysm. Genetic testing determined autosomal recessive cutis laxa type‐Ib as the underlying connective tissue disorder. Re‐do valve sparing root and arch replacement gained ex...

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Published inClinical case reports Vol. 10; no. 12; pp. e6573 - n/a
Main Authors Pees, Christiane, Zimpfer, Daniel, Radakovic, Sonja, Beitzke, Dietrich, Michel‐Behnke, Ina, Laccone, Franco A.
Format Journal Article
LanguageEnglish
Published England John Wiley & Sons, Inc 01.12.2022
John Wiley and Sons Inc
Wiley
Subjects
Aneurysms
aortopathy
Biopsy
Blood pressure
Case Report
Case reports
Connective tissue
Consent
Coronary vessels
cutis laxa
fibulin‐4
Intellectual disabilities
Medical imaging
Mutation
Patients
Prostheses
Pulmonary arteries
valve sparing root replacement
Veins & arteries
valve sparing root replacement
cutis laxa
aortopathy
fibulin‐4
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Abstract We present an adolescent girl with a highly stenotic ascending aortic conduit of her former during infancy corrected giant aneurysm. Genetic testing determined autosomal recessive cutis laxa type‐Ib as the underlying connective tissue disorder. Re‐do valve sparing root and arch replacement gained excellent restoration of the aorta; 1‐year‐follow‐up was uneventful. Demonstrating surgical options in complex inherited connective tissue disorders to improve patient's survival.
AbstractList We present an adolescent girl with a highly stenotic ascending aortic conduit of her former during infancy corrected giant aneurysm. Genetic testing determined autosomal recessive cutis laxa type‐Ib as the underlying connective tissue disorder. Re‐do valve sparing root and arch replacement gained excellent restoration of the aorta; 1‐year‐follow‐up was uneventful. Demonstrating surgical options in complex inherited connective tissue disorders to improve patient's survival.
We present an adolescent girl with a highly stenotic ascending aortic conduit of her former during infancy corrected giant aneurysm. Genetic testing determined autosomal recessive cutis laxa type-Ib as the underlying connective tissue disorder. Re-do valve sparing root and arch replacement gained excellent restoration of the aorta; 1-year-follow-up was uneventful.
We present an adolescent girl with a highly stenotic ascending aortic conduit of her former during infancy corrected giant aneurysm. Genetic testing determined as the underlying connective tissue disorder. Re-do valve sparing root and arch replacement gained excellent restoration of the aorta; 1-year-follow-up was uneventful.
We present an adolescent girl with a highly stenotic ascending aortic conduit of her former during infancy corrected giant aneurysm. Genetic testing determined autosomal recessive cutis laxa type-Ib as the underlying connective tissue disorder. Re-do valve sparing root and arch replacement gained excellent restoration of the aorta; 1-year-follow-up was uneventful.We present an adolescent girl with a highly stenotic ascending aortic conduit of her former during infancy corrected giant aneurysm. Genetic testing determined autosomal recessive cutis laxa type-Ib as the underlying connective tissue disorder. Re-do valve sparing root and arch replacement gained excellent restoration of the aorta; 1-year-follow-up was uneventful.
We present an adolescent girl with a highly stenotic ascending aortic conduit of her former during infancy corrected giant aneurysm. Genetic testing determined autosomal recessive cutis laxa type‐Ib as the underlying connective tissue disorder. Re‐do valve sparing root and arch replacement gained excellent restoration of the aorta; 1‐year‐follow‐up was uneventful. Demonstrating surgical options in complex inherited connective tissue disorders to improve patient's survival.
Abstract We present an adolescent girl with a highly stenotic ascending aortic conduit of her former during infancy corrected giant aneurysm. Genetic testing determined autosomal recessive cutis laxa type‐Ib as the underlying connective tissue disorder. Re‐do valve sparing root and arch replacement gained excellent restoration of the aorta; 1‐year‐follow‐up was uneventful.
Abstract We present an adolescent girl with a highly stenotic ascending aortic conduit of her former during infancy corrected giant aneurysm. Genetic testing determined autosomal recessive cutis laxa type‐Ib as the underlying connective tissue disorder. Re‐do valve sparing root and arch replacement gained excellent restoration of the aorta; 1‐year‐follow‐up was uneventful.
Author Michel‐Behnke, Ina
Zimpfer, Daniel
Radakovic, Sonja
Beitzke, Dietrich
Laccone, Franco A.
Pees, Christiane
AuthorAffiliation 3 Department of Dermatology Medical University of Vienna Vienna Austria
2 Department of Cardiac Surgery Medical University of Vienna Vienna Austria
1 Division of Pediatric Cardiology, Pediatric Heart Center University Children's Hospital, Medical University of Vienna Vienna Austria
4 Department of Biomedical Imaging and Image‐Guided Therapy Medical University of Vienna Vienna Austria
5 Institute for Human Genetics Medical University of Vienna Vienna Austria
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Cites_doi 10.1016/j.bbapap.2019.05.007
10.1111/echo.15263
10.1038/sj.bjp.0707391
10.1093/hmg/ddv308
10.1016/j.matbio.2014.02.004
10.1016/j.matbio.2016.06.003
10.1086/504304
10.1016/j.jjcc.2019.03.014
10.1186/1750-1172-7-61
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Copyright 2022 The Authors. published by John Wiley & Sons Ltd.
2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
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Issue 12
Keywords valve sparing root replacement
cutis laxa
aortopathy
fibulin‐4
Language English
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2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
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Snippet We present an adolescent girl with a highly stenotic ascending aortic conduit of her former during infancy corrected giant aneurysm. Genetic testing determined...
Abstract We present an adolescent girl with a highly stenotic ascending aortic conduit of her former during infancy corrected giant aneurysm. Genetic testing...
Abstract We present an adolescent girl with a highly stenotic ascending aortic conduit of her former during infancy corrected giant aneurysm. Genetic testing...
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StartPage e6573
SubjectTerms Aneurysms
aortopathy
Biopsy
Blood pressure
Case Report
Case reports
Connective tissue
Consent
Coronary vessels
cutis laxa
fibulin‐4
Intellectual disabilities
Medical imaging
Mutation
Patients
Prostheses
Pulmonary arteries
valve sparing root replacement
Veins & arteries
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Title Autosomal recessive cutis laxa type Ib—Successful redo aortic root and arch replacement
URI https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fccr3.6573
https://www.ncbi.nlm.nih.gov/pubmed/36518920
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https://pubmed.ncbi.nlm.nih.gov/PMC9743322
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Volume 10
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