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Prenatal complex congenital heart disease with Loeys–Dietz syndrome

Published online by Cambridge University Press:  21 July 2011

Yukiko Kawazu ,
Noboru Inamura ,
Futoshi Kayatani ,
Nobuhiko Okamoto  and
Hiroko Morisaki
Yukiko Kawazu*
Affiliation:
Department of Pediatric Cardiology, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan
Noboru Inamura
Affiliation:
Department of Pediatric Cardiology, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan
Futoshi Kayatani
Affiliation:
Department of Pediatric Cardiology, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan
Nobuhiko Okamoto
Affiliation:
Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan
Hiroko Morisaki
Affiliation:
Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan
*
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: [email protected]
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Abstract

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.

Keywords

Prenatal diagnosisaneurysmchromosomal anomalyconnective tissue disorder
Type
Brief Reports
Information
Cardiology in the Young , Volume 22 , Issue 1 , February 2012 , pp. 116 - 119
Copyright
Copyright © Cambridge University Press 2011

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References

1. Loeys, BL, Chen, J, Neptune, ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005; 37: 275–281.CrossRefGoogle ScholarPubMed
2. Loeys, BL, Schwarze, U, Holm, T. Aneurysm syndromes caused by mutations in the TGF-β receptor. N Engl J Med 2006; 355: 788–798.CrossRefGoogle ScholarPubMed
3. Mizuguchi, T, Collod-Beroud, G, Akiyama, T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004; 36: 855–860.CrossRefGoogle ScholarPubMed
4. Yamawaki, T, Nagaoka, K, Morishige, K, et al. 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: 555–558.CrossRefGoogle ScholarPubMed
5. Akutsu, K, Morisaki, H, Okajima, T, et al. Genetic analysis of young adult patients with aortic disease not fulfilling the diagnostic criteria for Marfan syndrome. Circ J 2010; 74: 990–997.CrossRefGoogle Scholar
6. Muramatsu, Y, Kosho, T, Magota, M, et al. Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys–Dietz syndrome type 1B. Am J Med Genet A 2010; 152A: 417–421.CrossRefGoogle Scholar
7. Viassolo, V, Lituania, M, Marasini, M, et al. Fetal aortic root dilation: a prenatal feature of the Loeys–Dietz syndrome. Prenat Diagn 2006; 26: 1081–1083.CrossRefGoogle ScholarPubMed
8. Watanabe, Y, Sakai, H, Nishimura, A, et al. Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys–Dietz syndrome. Am J Med Genet A 2008; 146A: 3070–3074.CrossRefGoogle Scholar