Beyond the blueprint: decoding calmodulinopathy—a case report showcasing the utility of multifaceted treatments
CALM3 pathogenic variants are gain-of-function variants mainly affecting amino acids residing in the Ca2-binding loops. Earlier data suggested the role of the Na<sub>v</sub>1.5 channel in leading to persistent Na<sup>+</sup> leaks resulting in LQTS. However, they only focused on LQTS-CALM1 and CALM2 models and did not include CALM3-related genes. Despite similarities, the precise impact of CaM on Na<sub>v</sub>1.5 channels still needs to be defined as Ca<sub>V</sub>1.2. The exact role of mexiletine is not fully understood.
Authors
- Narayanan Namboodiri (ORCID: https://orcid.org/0000-0001-7997-1333)
- Madhusoodanan Pillai Sreelekshmi
- Saikiran Kakarla (ORCID: https://orcid.org/0000-0001-5456-9321)
- Madhusoodanan Jalaja Aswathy
- Machilakath Panangandi Shabeer
Institutions
- Sree Chitra Thirunal Institute for Medical Sciences and Technology (IN)
Publication Details
- Journal
- European Heart Journal - Case Reports
- Published
- 2025-03-28
- DOI
- https://doi.org/10.1093/ehjcr/ytaf140
- Citations
- 1
- Primary Topic
- Cardiac electrophysiology and arrhythmias
- Type
- article
- Field-Weighted Citation Impact
- 1.39