Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation.

@article{Yoo2010ClinicalPA,
  title={Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation.},
  author={Eun-Hyung Yoo and Seung Hyuk Choi and Shin Yi Jang and Yunjung Suh and Inchul Lee and Jong Min Song and Yeon Hyeon Choe and Jong-Won Kim and Chang Seok Ki and Duk-Kyung Kim},
  journal={Annals of clinical and laboratory science},
  year={2010},
  volume={40 3},
  pages={
          278-84
        }
}
Non-syndromic familial thoracic aortic aneurysms and dissections (TAADs), inherited in an autosomal dominant manner in up to 19% of patients, are genetically heterogeneous. The ACTA2 gene, which encodes the vascular smooth muscle cell (SMC)-specific isoform of alpha-actin, is known to cause TAADs and occlusive vascular diseases, including coronary artery disease and premature ischemic stroke. We have investigated a Korean family with DeBakey type I aortic dissection related to pregnancy and a… CONTINUE READING

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