Abstract:
:Here we report the identification of two novel mutations in a previously asymptomatic young man who suffered an out-of-hospital sudden cardiac arrest. During following evaluation, diagnosis of early stage dilated cardiomyopathy was established, while electrocardiogram monitoring showed frequent complex ventricular arrhythmias, incomplete right bundle branch block and prolonged QT duration. No reversible causes explaining the clinical presentation were established and an automatic implantable cardioverter defibrillator was therefore implanted. Heterozygous mutations in human protein coding genes NKX2-5 and RBM20 are associated with a wide array of pathological phenotypes some of which are sudden cardiac death, unexplained syncope and either combined or isolated congenital heart diseases such as dilated cardiomyopathy.
journal_name
J Electrocardioljournal_title
Journal of electrocardiologyauthors
Monaco I,Santacroce R,Casavecchia G,Correale M,Bottigliero D,Cordisco G,Leccese A,Di Biase M,Margaglione M,Brunetti NDdoi
10.1016/j.jelectrocard.2018.12.015subject
Has Abstractpub_date
2019-01-01 00:00:00pages
40-43eissn
0022-0736issn
1532-8430pii
S0022-0736(18)30736-2journal_volume
53pub_type
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journal_title:Journal of electrocardiology
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journal_title:Journal of electrocardiology
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