Valve-sparing aortic root replacement in Loeys-Dietz syndrome and a novel mutation in TGFBR2.

The article presents a case study of a 12-year-old male patient with a murmur and pectus carinatum and dysmorphic features of dolichocephaly, palpebral fissures and scoliosis. It mentions a computed tomography evaluation which revealed aneurysmatic dilatation from the aortic root to the right truncal brachiocephalic branch. It also states detection of mutation of heterozygous missense in the TGFBR2 gene.