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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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
content type line 23
ObjectType-Report-1
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.6573