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    This article has been cited by the following publications. This list is generated based on data provided by CrossRef.

    Wei, Shijie Huang, Xiaojie Hu, Shijun Yang, Yifeng and Liu, Feng 2015. Successful Single-Stage Operation for Loeys-Dietz Syndrome With Critical Coarctation of the Descending Aorta in a Young Adult. Canadian Journal of Cardiology,

    Chung, Brian H.Y. Bradley, Tim Grosse-Wortmann, Lars Blaser, Susan Dirks, Peter Hinek, Aleksander and Chitayat, David 2014. Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome-expanding the clinical spectrum. American Journal of Medical Genetics Part A, Vol. 164, Issue. 2, p. 461.

    Nishida, Koichi Tamura, Satoshi Yamazaki, Sachiko Sugita, Ryo Yamagishi, Masaaki Noriki, Sakon and Morisaki, Hiroko 2014. Postoperative mitral leaflet rupture in an infant with Loeys-Dietz syndrome. Pediatrics International, Vol. 56, Issue. 6, p. e82.


Prenatal complex congenital heart disease with Loeys–Dietz syndrome

  • Yukiko Kawazu (a1), Noboru Inamura (a1), Futoshi Kayatani (a1), Nobuhiko Okamoto (a2) and Hiroko Morisaki (a3)
  • DOI:
  • Published online: 21 July 2011

We report an infantile case of Loeys–Dietz syndrome prenatally diagnosed with congenital complex heart disease – double outlet right ventricle and interruption of the aortic arch. The patient also showed prominent dilatation of the main pulmonary artery. Emergency bilateral pulmonary artery banding was performed on the 9th day. However, on the 21st day, the patient died of massive bleeding due to rupture of the right pulmonary artery. Subsequently, a mutation of the TGFBR1 gene was detected. As cardiovascular lesions of Loeys–Dietz syndrome appear early and progress rapidly, the prognosis is generally poor. Patients require periodic examination and early intervention with medical therapy such as Losartan administration and surgical therapy. Early genetic screening is thought to be useful for the prediction of complications as well as vascular disease.

Corresponding author
Correspondence to: Y. Kawazu, MD, PhD, 840 Murodo-cho Izumi-city, Osaka 594-1101, Japan. Tel: +81 725 56 1220; Fax: +81 725 56 1858; E-mail:
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1.BL Loeys , J Chen , ER Neptune , A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005; 37: 275281.

2.BL Loeys , U Schwarze , T Holm . Aneurysm syndromes caused by mutations in the TGF-β receptor. N Engl J Med 2006; 355: 788798.

3.T Mizuguchi , G Collod-Beroud , T Akiyama , Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004; 36: 855860.

4.T Yamawaki , K Nagaoka , K Morishige , Familial thoracic aortic aneurysm and dissection associated with Marfan-related gene mutations: case report of a family with two gene mutations. Intern Med 2009; 48: 555558.

5.K Akutsu , H Morisaki , T Okajima , Genetic analysis of young adult patients with aortic disease not fulfilling the diagnostic criteria for Marfan syndrome. Circ J 2010; 74: 990997.

6.Y Muramatsu , T Kosho , M Magota , Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys–Dietz syndrome type 1B. Am J Med Genet A 2010; 152A: 417421.

7.V Viassolo , M Lituania , M Marasini , Fetal aortic root dilation: a prenatal feature of the Loeys–Dietz syndrome. Prenat Diagn 2006; 26: 10811083.

8.Y Watanabe , H Sakai , A Nishimura , Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys–Dietz syndrome. Am J Med Genet A 2008; 146A: 30703074.

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Cardiology in the Young
  • ISSN: 1047-9511
  • EISSN: 1467-1107
  • URL: /core/journals/cardiology-in-the-young
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