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

• Published in: Clinical 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
• Language: English
• 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

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...