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A very rare cause of sudden cardiac arrest in children: triadin knockout syndrome

Published online by Cambridge University Press:  28 April 2022

Ayse Sulu Open the ORCID record for Ayse Sulu [Opens in a new window] ,
Mehmet Karacan Open the ORCID record for Mehmet Karacan [Opens in a new window]  and
Yakup Ergul Open the ORCID record for Yakup Ergul [Opens in a new window]
Ayse Sulu*
Affiliation:
Pediatric Cardiology, Istanbul Saglik Bilimleri University Istanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Education and Research Hospital, Istanbul, Turkey
Mehmet Karacan
Affiliation:
Istanbul Saglik Bilimleri University Istanbul Umraniye Education and Research Hospital, Istanbul, Turkey
Yakup Ergul
Affiliation:
Pediatric Cardiology, Istanbul Saglik Bilimleri University Istanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, Turkey
*
Author for correspondence: Ayse Sulu, Eskisehir Osmangazi University Faculty of Medicine, Department of Pediatric Cardiology, Büyükdere mah. Prof Dr. Nabi AVCI bulvarı. No: 4 postal code: 26040, Eskisehir, Turkey. Tel: +905541204978; Fax: +90 222 239 06 09 E-mail: suluayse@windowslive.com
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Abstract

Triadin knockout syndrome has been defined as a disease with transient long QT, T wave abnormalities, and extremely severe fatal cardiac arrhythmias in young children. In this report, we wanted to share the characteristics of our two cases who presented with sudden cardiac arrest and were diagnosed with triadin knockout syndrome.

Case 1:

A 7.5-year-old male patient was referred to our clinic with a history of recurrent syncope and aborted cardiac arrest. There was no family history of sudden death, syncope, or arrhythmia. Physical examination, electrocardiography, echocardiography, and 24-hour rhythm Holter monitoring were normal, and bidirectional ventricular tachycardiaT was detected during the exercise stress test. Genetic analysis revealed a homozygous mutation of c.531_533delinsGG, p.(Lys179Asnfs * 44) frameshift variant in TRDN(NM_006073) gene.

Case 2:

A 4.5-year-old male was admitted due to syncope during exertion and underwent cardiopulmonary resuscitation due to sudden cardiac arrest. He had family history about sudden cardiac death. Physical examination was normal, and there was borderline QTc prolongation. Bidirectional non-sustained polymorphic ventricular tachycardia was observed at adrenaline provocation test. In genetic analysis, c.568dupA, pII190Asnfs * 2 frameshift variant homozygous mutation was detected in TRDN(NM_006073) gene. Intracardiac defibrillator implantation were performed for both cases. There has not been any event under propranolol and flecainide combination treatment.

Conclusion:

Triadin knockout syndrome (TCOS) is a rare overlap syndrome characterized by highly malignant arrhythmias, and it is a deadly combination of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia that affects primarily young children. Since lethal arrhythmias are frequently described, genetic testing is very important in these patients. Because, identification of a genetic mutation may be a guide in treatment.

Keywords

Triadin knockout syndromecatecholaminergic polymorphic ventricular tachycardialong QT syndromesudden cardiac arrest
Type
Brief Report
Information
Cardiology in the Young , Volume 33 , Issue 1 , January 2023 , pp. 130 - 132
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Copyright
© The Author(s), 2022. Published by Cambridge University Press

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References

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