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A new discovered gene mutation in a child with dilated cardiomyopathy

Published online by Cambridge University Press:  05 April 2021

Xiaolong Chen
Affiliation:
Department of Cardiothoracic Surgery, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Putuo District, Shanghai, China
Yewei Xie
Affiliation:
Department of Cardiothoracic Surgery, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Putuo District, Shanghai, China
Xiaobing Li
Affiliation:
Department of Cardiothoracic Surgery, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Putuo District, Shanghai, China
Jin Gong
Affiliation:
Department of Cardiothoracic Surgery, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Putuo District, Shanghai, China
Li Shen*
Affiliation:
Department of Cardiothoracic Surgery, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Putuo District, Shanghai, China
Rufang Zhang*
Affiliation:
Department of Cardiothoracic Surgery, Shanghai Children’s Hospital, Shanghai Jiao Tong University, Putuo District, Shanghai, China
*
Author for correspondence: Dr L. Shen and Dr R. Zhang, Department of Cardiothoracic Surgery, Shanghai Children’s Hospital, Shanghai Jiao Tong University, No.355 Luding Road, Putuo District, Shanghai200062, China. E-mails: drshenli2018@163.com and zhangrf@shchildren.com.cn
Author for correspondence: Dr L. Shen and Dr R. Zhang, Department of Cardiothoracic Surgery, Shanghai Children’s Hospital, Shanghai Jiao Tong University, No.355 Luding Road, Putuo District, Shanghai200062, China. E-mails: drshenli2018@163.com and zhangrf@shchildren.com.cn

Abstract

Dilated cardiomyopathy is characterised by dilatation and impaired contraction of the left ventricle or both ventricles, which is the most common childhood cardiomyopathy. In recent years, it has been recognised that many sorts of genetic mutations may contribute to dilated cardiomyopathy. We now report a rare association of dilated cardiomyopathy with site mutation of BMPR2 gene. We did not find such an association reported in the medical literature.

Type
Brief Report
Copyright
© The Author(s), 2021. Published by Cambridge University Press

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References

Richardson, P, McKenna, W, Bristow, M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology task force on the definition and classification of cardiomyopathies. Circulation 1996; 93: 841842.Google ScholarPubMed
Kayvanpour, E, Sedaghat-Hamedani, F, Amr, A. Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals. Clin Res Cardiol 2017; 106: 127139.CrossRefGoogle ScholarPubMed
de Gonzalo-Calvo, D, Quezada, M, Campuzano, O, et al. Familial dilated cardiomyopathy: a multidisciplinary entity, from basic screening to novel circulating biomarkers. Int J Cardiol 2017; 228: 870880.CrossRefGoogle ScholarPubMed
Petretta, M, Pirozzi, F, Sasso, L, et al. Review and meta analysis of the frequencyof familial dilated cardiomyopathy. Am J Cardiol 2011; 108: 11711176.CrossRefGoogle Scholar
Harakalova, M, Kummeling, G, Sammani, A, et al. A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes. Eur J Heart Fail 2015; 17: 484493.CrossRefGoogle ScholarPubMed
Nichols, WC, Koller, DL, Slovis, B, et al. Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31–32. Nat Genet 1997; 15: 277280.CrossRefGoogle ScholarPubMed
Morrell, NW, Adnot, S, Archer, SL, et al. Cellular and molecular basis of pulmonary arterial hypertension. J Am Coll Cardiol 2009; 54: S20S31.CrossRefGoogle ScholarPubMed
Cogan, JD, Pauciulo, MW, Batchman, AP, et al. High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension. Am J Resp Crit Care 2006; 174: 590598.CrossRefGoogle ScholarPubMed