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Dilated cardiomyopathy associated with a mutation in the dispatched RND transporter family member 1 gene

Part of: Echocardiography

Published online by Cambridge University Press:  02 December 2021

Diana M. Torpoco Rivera Open the ORCID record for Diana M. Torpoco Rivera [Opens in a new window] ,
Mina Hafzalah ,
Daniel J. Pomerantz  and
Richard U. Garcia
Diana M. Torpoco Rivera*
Affiliation:
Division of Cardiology, Children’s Hospital of Michigan, Detroit, MI, USA Department of Pediatrics, Central Michigan University College of Medicine, Mt. Pleasant, MI, USA
Mina Hafzalah
Affiliation:
Division of Critical Care, Children’s Hospital of Michigan, Detroit, MI, USA
Daniel J. Pomerantz
Affiliation:
Division of Genetics, Genomics and Metabolism, Detroit, MI, USA
Richard U. Garcia
Affiliation:
Division of Cardiology, Children’s Hospital of Michigan, Detroit, MI, USA Department of Pediatrics, Central Michigan University College of Medicine, Mt. Pleasant, MI, USA Division of Critical Care, Children’s Hospital of Michigan, Detroit, MI, USA
*
Author for correspondence: Diana M. Torpoco Rivera, MD, Division of Cardiology, Children’s Hospital of Michigan, 3901 Beaubien Boulevard, Detroit, MI 48201, USA. Tel: 313-919-8945; Fax: 313-993-0894. Email: dianatorpoco1202@gmail.com
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Abstract

Dilated cardiomyopathy is the most common presentation of cardiomyopathy in children with 20–35% of patients having an identified genetic component. There are more than 30 genes implicated in the pathogenesis of dilated cardiomyopathy. We present the first report of a female infant with dilated cardiomyopathy with a genetic variant in the dispatched RND transporter family member 1 gene.

Keywords

Dilated cardiomyopathydispatched RND transporter family member 1 gene mutationhedgehog signalling pathway
Type
Brief Report
Information
Cardiology in the Young , Volume 32 , Issue 7 , July 2022 , pp. 1166 - 1168
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Copyright
© The Author(s), 2021. Published by Cambridge University Press

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References

Kindel, SJ, Miller, EM, Gupta, R, et al. Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. J Card Fail. 2012; 18: 396–403. doi: 10.1016/j.cardfail.2012.01.017 CrossRefGoogle ScholarPubMed
Kantarci, S, Ackerman, KG, Russell, MK, et al. Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. Am J Med Genet A. 2010; 152A: 2493–2504. doi: 10.1002/ajmg.a.33618 CrossRefGoogle ScholarPubMed
Paldino, A, De Angelis, G, Merlo, M, et al. Genetics of dilated cardiomyopathy: Clinical implications. Curr Cardiol Rep. 2018; 20: 83. Published 2018 Aug 13. doi: 10.1007/s11886-018-1030-7 CrossRefGoogle ScholarPubMed
Wang, Y, Lu, P, Zhao, D, Sheng, J. Targeting the hedgehog signaling pathway for cardiac repair and regeneration. Der Hedgehog-Signalweg als Zielpunkt bei kardialer Wiederherstellung und Regeneration. Herz. 2017; 42: 662–668. doi: 10.1007/s00059-016-4500-y CrossRefGoogle ScholarPubMed
Jun, KR, Hur, YJ, Lee, JN, et al. Clinical characterization of DISP1 haploinsufficiency: A case report. Eur J Med Genet. 2013; 56: 309–313. doi: 10.1016/j.ejmg.2013.03.007 CrossRefGoogle ScholarPubMed
Manickam, K., et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet. Med. (2021): 1–9.Google ScholarPubMed