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Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance
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  • Hager Jaouadi,
  • Sonia Chabrak,
  • Saida LAHBIB,
  • Sonia Abdelhak,
  • Stéphane Zaffran
Hager Jaouadi
Institut Pasteur de Tunis

Corresponding Author:[email protected]

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Sonia Chabrak
Universite de Tunis El Manar
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Saida LAHBIB
Institut Pasteur de Tunis
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Sonia Abdelhak
Institut Pasteur de Tunis
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Stéphane Zaffran
Aix Marseille Université
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Abstract

Catecholaminergic Polymorphic Ventricular Tachycardia is a life-threatening disorder. The clinical diagnosis is challenging owing to the absence of electrocardiogram and overt structural heart abnormalities in the majority of patients. Approximately 35% of cases remain without a genetic etiology. Here, we identified two genes as a novel promising candidate for CPVT.
25 Oct 2021Submitted to Clinical Case Reports
27 Oct 2021Submission Checks Completed
27 Oct 2021Assigned to Editor
30 Oct 2021Reviewer(s) Assigned
27 Nov 2021Review(s) Completed, Editorial Evaluation Pending
26 Dec 2021Editorial Decision: Revise Minor
03 Jan 20221st Revision Received
04 Jan 2022Submission Checks Completed
04 Jan 2022Assigned to Editor
04 Jan 2022Review(s) Completed, Editorial Evaluation Pending
14 Jan 2022Editorial Decision: Accept
Feb 2022Published in Clinical Case Reports volume 10 issue 2. 10.1002/ccr3.5339