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

Abstract

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.

Keywords

• aortopathy
• cutis laxa
• fibulin‐4
• valve sparing root replacement