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Congenital heart defects in Sotos syndrome

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American Journal of Medical Genetics 84:172 (1999)
Letter to the Editor
Congenital Heart Defects in Sotos Syndrome
To the Editor:
We read with interest the article on the occurrence of
congenital heart defects in Sotos syndrome by Noreau
et al. [1998] in this journal. They found congenital
heart defects (CHDs) in 3 of 14 children with Sotos
syndrome. We report here two additional Sotos syndrome patients with CHDs.
Previously we reported CHDs in five of ten Sotos
syndrome patients [Kaneko et al., 1985]. Thereafter,
we evaluated seven additional patients (six males and
one female) with Sotos syndrome. All were diagnosed
on the basis of clinical manifestations. CHDs were
noted in two of these seven patients including patent
ductus arteriosus and ventricular septal defect, and
patent ductus arteriosus and atrial septal defect, respectively.
Altogether, 7 of 17 (41%) Japanese patients were
found to have various CHDs. A high association of
CHD in Japanese Sotos patients was also reported by
Naritomi et al. [1997]. They analyzed a total of 49 (30
males and 19 females) Japanese patients with Sotos
syndrome. CHDs were found in 17 of 49 (35%) patients.
These findings suggest that CHDs in patients with Sotos syndrome may reflect primary abnormalities of the
The incidence of CHDs in Japanese Sotos syndrome
patients seems to be significantly higher than that in
non-Japanese patients [Cole and Hughes, 1994;
Noreau et al., 1998], suggesting the possibility of a
higher prevalence of CHDs in Japanese patients with
Sotos syndrome. Cole and Hughes [1990] raised the
question of whether Japanese patients with the syndrome may represent a separate disorder in view of the
fact that CHDs and urogenital anomalies are so frequent in these patients. However, clinical manifestations and follow-up data clearly showed that these
Japanese patients had typical Sotos syndrome. We
think that both Japanese and non-Japanese patients
Contract grant sponsor: Ministry of Education, Science, Sports
and Culture of Japan; Contract grant number: (C)09670810.
*Correspondence to: Masato Tsukahara, M.D., School of Allied
Health Sciences, Yamaguchi University, Ube, Yamaguchi-ken
755-8554, Japan.
Received 27 October 1998; Accepted 23 November 1998
© 1999 Wiley-Liss, Inc.
represent a single disorder rather than two causally
separate syndromes. Identification of other patients
with Sotos syndrome in different ethnic groups may
provide additional information, and molecular studies
in the future may conclude that Sotos syndrome is heterogeneous or one distinct entity.
This work was supported in part by Grant-in-Aid
for Scientific Research (C) 09670810 from The Ministry
of Education, Science, Sports and Culture of Japan
Cole TRP, Hughes HE. 1990. Sotos syndrome. J Med Genet 27:571–576.
Cole TR, Hughes HE. 1994. Sotos syndrome: A study of the diagnostic
criteria and natural history. J Med Genet 31:20–32.
Kaneko H, Tsukahara M, Tachibana H, Kurashige H, Kuwano A, Kajii T.
1987. Congenital heart defects in Sotos sequence. Am J Med Genet
Naritomi K, Izumikawa Y, Toma R, Chinen Y. 1997. A study on natural
history of Sotos syndrome. Annual Report of Grant for Maternal Child
Health Research from Ministry of Health and Welfare. 212–213 (in
Noreau DR, Al-Ata J, Jutras L, Teebi AS. 1998. Congenital heart defects in
Sotos syndrome. Am J Med Genet 79:327–328.
Masato Tsukahara*
Kyoko Murakami
Hidechika Iino
School of Allied Health Sciences
Yamaguchi University
Ube, Japan
Hiroshi Tateishi
Kyoko Fujita
Masashi Uchida
Department of Pediatrics
Tokuyama Central Hospital
Tokuyama, Japan
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syndrome, heart, congenital, defects, soto
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