Hypoplasia of the Aorta in a Patient Diagnosed with LMNA Gene Mutation

作者：Coutance Guillaume; Labombarda Fabien^*; Cauderlier Emmanuelle; Belin Annette; Richard Pascale; Bonne Gisele; Chapon Francoise

来源：Congenital Heart Disease, 2013, 8(4): E127-E129.

DOI：10.1111/j.1747-0803.2012.00695.x

• Laminopathy
• LMNA Gene Mutation
• Hypoplasia
• Aorta
• Cardiomyopathy

Hypoplasia of the aorta is a rare entity comprising tubular hypotrophy of a large segment of the thoracic and the abdominal aorta. We report for the first time the case of a 26-year-old man with Emery-Dreifuss muscular dystrophy presenting severe and diffuse hypoplasia of the aorta.

• 出版日期2013-7