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A rare coincidence: the long QT syndrome and cardio-facio-cutaneous syndrome

Published online by Cambridge University Press:  08 July 2020

Dilek Giray*
Affiliation:
Department of Pediatric Cardiology, Van Training and Research Hospital, Van, Turkey
Yasemin N. Donmez
Affiliation:
Department of Pediatric Cardiology, Van Training and Research Hospital, Van, Turkey
Serdar Epcacan
Affiliation:
Department of Pediatric Cardiology, Van Training and Research Hospital, Van, Turkey
Emine Goktas
Affiliation:
Department of Medical Genetics, Van Training and Research Hospital, Van, Turkey
*
Author for correspondence: Dilek Giray, Department of Pediatric Cardiology, Van Education and Research Hospital, Turkish Republic Ministry of Health, Süphan Mahallesi, Havayolu Kavşağı, Edremit, Van 65300, Turkey. Tel: +90 535 647 8996; Fax: +90 432 2121954. E-mail: [email protected]

Abstract

Cardio-facio-cutaneous syndrome is a genetic anomaly characterised by craniofacial dysmorphia, developmental retardation, skin lesions, mental retardation/learning disability, and cardiac malformations. Cardio-facio-cutaneous syndrome rarely causes arrhythmias and has not been previously associated with long QT in the literature. With this report, it was aimed to draw attention to a different presentation of the long QT syndrome.

Type
Brief Report
Copyright
© The Author(s), 2020. Published by Cambridge University Press

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References

Tidyman, WE, Rauen, KA.The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 2009; 19: 230236.10.1016/j.gde.2009.04.001CrossRefGoogle ScholarPubMed
Roberts, A, Allanson, J, Jadico, SK, et al.The cardiofaciocutaneous syndrome. J Med Genet 2006; 43: 833842.10.1136/jmg.2006.042796CrossRefGoogle ScholarPubMed
Schwartz, PJ, Crotti, L, Insolia, R.Long-QT syndrome from genetics to management. Circ Arrhythm Electrophysiol 2012; 5: 868877.10.1161/CIRCEP.111.962019CrossRefGoogle Scholar
Abe, Y, Aoki, Y, Kuriyama, S, et al.Prevalence and clinical features of Costello syndrome and cardio-faciocutaneous syndrome in Japan: findings from a nationwide epidemiological survey. Am J Med Genet A 2012; 158: 10831094.CrossRefGoogle Scholar
Allanson, JE, Annerén, G, Aoki, Y, et al.Cardio-facio-cutaneous syndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet 2011; 157: 129135.CrossRefGoogle Scholar
Roberts, A, Allanson, J, Jadico, SK, et al.The cardiofaciocutaneous syndrome. J Med Genet 2006; 43: 833842.CrossRefGoogle ScholarPubMed
Kapplinger, JD, Tester, DJ, Salisbury, BA, et al.Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the Familion long QT syndrome genetic test. Heart Rhythm 2009; 6: 12971303.CrossRefGoogle ScholarPubMed
ACC/AHA/HRS 2008 Guidelines for device-based therapy of cardiac rhythm abnormalities. Circulation 2008; 117: 350408.Google Scholar