title: A deleterious MYH11 mutation causing familial thoracic aortic dissection.
abstract: The L1264P and R1275L heterozygous mutations of the myosin heavy chain 11 (MYH11) gene, which are on the same allele, have been reported to cause thoracic aortic aneurysms and/or dissections (TAAD) complicated with patent ductus arteriosus (PDA); however, their contributions to the pathogenesis of TAAD/PDA have not been elucidated. Here we report the first familial case of TAAD with only a MYH11 L1264P mutation, in which PDA was not observed, indicating that L1264P, not R1275L, is responsible for TAAD formation.
authors.affiliation: Department of Cardiovascular Medicine, The University of Tokyo Hospital , Tokyo, Japan.
authors.forename: Norifumi
authors.initials: N
authors.lastname: Takeda
authors.affiliation: Department of Cardiovascular Medicine, The University of Tokyo Hospital, Tokyo, Japan; Department of Translational Research for Healthcare and Clinical Science, The University of Tokyo Hospital, Tokyo, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Morita
authors.affiliation: Department of Cardiovascular Medicine, The University of Tokyo Hospital , Tokyo, Japan.
authors.forename: Daishi
authors.initials: D
authors.lastname: Fujita
authors.affiliation: Department of Pediatrics, The University of Tokyo Hospital , Tokyo, Japan.
authors.forename: Ryo
authors.initials: R
authors.lastname: Inuzuka
authors.affiliation: Department of Orthopedic Surgery, The University of Tokyo Hospital , Tokyo, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Taniguchi
authors.affiliation: Department of Cardiovascular Surgery, The University of Tokyo Hospital , Tokyo, Japan.
authors.forename: Kan
authors.initials: K
authors.lastname: Nawata
authors.affiliation: Department of Cardiovascular Medicine, The University of Tokyo Hospital , Tokyo, Japan.
authors.forename: Issei
authors.initials: I
authors.lastname: Komuro