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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)...

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.

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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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