Pediatric Cardiology and Cardiac Surgery
Vol.25 No.6 2009 (821-826)

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Hiroko Fukushima,1) Hitoshi Horigome,1) Yuji Hiramatsu,2) Chiho Tokunaga,2) Yoshie Kaneko,2) Miho Takahashi,1) Akira Nishimura,3) Naomichi Matsumoto,3) and Ryo Sumazaki1)

Departments of 1)Child Health, 2)Cardiovascular Surgery, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba and 3)Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan


We report a female patient who underwent aortic root replacement (Bentall procedure) at 10 years of age for progressive aortic root dilatation. The patient was first referred to our hospital at 3 months of age because external anomalies including talipes valgus were pointed out, and congenital anomaly syndrome was suspected. Screening echocardiography revealed aortic root dilatation. A tentative diagnosis of Marfan-like syndrome was made based on the phenotype such as hypertelorism, arachnodactyly, bifid uvula and aortic aneurysm as well as absence of pectus excavatum, ectopia lentis or wrist sign. In 2005, Loeys and Dietz first reported a syndrome with similar phenotype to that of Marfan syndrome, in which mutations of the gene encoding TGFβ (transforming growth factor β) receptor was demonstrated (Loeys-Dietz syndrome). Our patient underwent gene analysis at age 8 and a mutation of TGFBR2 gene was identified. During the next 2 years, the expanding rate of the aortic root exceeded 5 mm/year, and the aortic root diameter reached 44 mm at age 10, urging us to conduct aortic root replacement to prevent aortic dissection. Sixteen patients with Loeys-Dietz syndrome who underwent aortic root replacement in childhood have been reported in the literature, with the average age 7.5 years (0.5–14) and the average diameter of the aortic root 36 mm (27.4–52). The patients’ prognoses were reported to be favorable except for two patients who died of aortic dissection after surgery. Loeys- Dietz syndrome is a connective tissue disorder similar to Marfan syndrome, and it is preferable for pediatricians to recognize the syndrome because life-threatening aortic dissection may occur even in early childhood.