Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.

@article{Muramatsu2010ProgressiveAR,
  title={Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.},
  author={Yukako Muramatsu and Tomoki Kosho and Miyuki Magota and Taro Yokotsuka and Masatoki Ito and Ayako Yasuda and Osamu Kito and Chizuko Suzuki and Yoshie Nagata and Satoru Kawai and Masanobu Ikoma and Tameo Hatano and Masato Nakayama and Rie Kawamura and Keiko Wakui and Hiroko Morisaki and Takayuki Morisaki and Yoshimitsu Fukushima},
  journal={American journal of medical genetics. Part A},
  year={2010},
  volume={152A 2},
  pages={417-21}
}
Loeys-Dietz Syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with multisystem involvement, caused by heterozygous mutations of transforming growth factor beta receptor type 1 (TGFBR1) or type 2 (TGFBR2) genes. We report on a neonate with the disorder caused by a known TGFBR2 mutation, who developed neonatal-onset progressive dilation of the aortic valve and aneurysms of the aortic root and main pulmonary artery (PA) associated with a large left-to-right shunt via a ventricular… CONTINUE READING