This case report identifies the MYH11 L1264P mutation as the specific driver of familial thoracic aortic dissection independent of patent ductus arteriosus.
May inform MYH11 variant classification in TAAD families; hypothesis-generating pending replication in larger cohorts.
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.
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Takeda et al. (2015) studied this question.
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