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

Yukako Muramatsu, Tomoki Kosho, Miyuki Magota, Taro Yokotsuka, Masatoki Ito, Ayako Yasuda, Osamu Kito, Chizuko Suzuki, Yoshie Nagata, Satoru Kawai, Masanobu Ikoma, Tameo Hatano, Masato Nakayama, Rie Kawamura, Keiko Wakui, Hiroko Morisaki, Takayuki Morisaki, Yoshimitsu Fukushima

研究成果: Article

21 引用 (Scopus)

抜粋

Loeys-Dietz Syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with multisystem involvement, caused by heterozygous mutations of transforming growth factor b 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 septal defect (VSD) and an atrial septal defect (ASD). He also had skeletal features (flexion contractures of the fingers, talipes equinovarus, a cleft palate, and joint laxity), mild facial dysmorphisms, and developmental delay. The dilation and aneurysms progressed after PA banding at age 12 days; and the patient received an intracardiac repair of the defects and PA plasty at age 42 days, followed by no further progression of the dilation and the aneurysms. Neonates with generalized hypotonia, a cleft palate, inguinal herniae, musculoskeletal features such as camptodactyly and talipes equinovarus, and a cardiac murmur should be suspected to have LDS, and extensive cardiovascular evaluation and testing of TGFBR1 and TGFBR2 are recommended. LDS patients with cardiac defects that lead to a large left-to-right shunt and congestive heart failure such as VSD should be considered for intracardiac repair even in early infancy.

元の言語English
ページ(範囲)417-421
ページ数5
ジャーナルAmerican Journal of Medical Genetics, Part A
152
発行部数2
DOI
出版物ステータスPublished - 02-2010

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

フィンガープリント Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz Syndrome type 1B' の研究トピックを掘り下げます。これらはともに一意のフィンガープリントを構成します。

  • これを引用

    Muramatsu, Y., Kosho, T., Magota, M., Yokotsuka, T., Ito, M., Yasuda, A., Kito, O., Suzuki, C., Nagata, Y., Kawai, S., Ikoma, M., Hatano, T., Nakayama, M., Kawamura, R., Wakui, K., Morisaki, H., Morisaki, T., & Fukushima, Y. (2010). Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz Syndrome type 1B. American Journal of Medical Genetics, Part A, 152(2), 417-421. https://doi.org/10.1002/ajmg.a.33263