Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy - Aix-Marseille Université Access content directly
Journal Articles International Journal of Molecular Sciences Year : 2023

Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy

Abstract

Calcium (Ca 2+) is the major mediator of cardiac contractile function. It plays a key role in regulating excitation-contraction coupling and modulating the systolic and diastolic phases. Defective handling of intracellular Ca 2+ can cause different types of cardiac dysfunction. Thus, the remodeling of Ca 2+ handling has been proposed to be a part of the pathological mechanism leading to electrical and structural heart diseases. Indeed, to ensure appropriate electrical cardiac conduction and contraction, Ca 2+ levels are regulated by several Ca 2+-related proteins. This review focuses on the genetic etiology of cardiac diseases related to calcium mishandling. We will approach the subject by focalizing on two clinical entities: catecholaminergic polymorphic ventricular tachycardia (CPVT) as a cardiac channelopathy and hypertrophic cardiomyopathy (HCM) as a primary cardiomyopathy. Further, this review will illustrate the fact that despite the genetic and allelic heterogeneity of cardiac defects, calcium-handling perturbations are the common pathophysiological mechanism. The newly identified calcium-related genes and the genetic overlap between the associated heart diseases are also discussed in this review.
Fichier principal
Vignette du fichier
ijms-24-03365.pdf (365.9 Ko) Télécharger le fichier
Origin : Publisher files allowed on an open archive
Licence : CC BY - Attribution

Dates and versions

hal-04004374 , version 1 (24-02-2023)

Licence

Attribution

Identifiers

Cite

Stéphane Zaffran, Lilia Kraoua, Hager Jaouadi. Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy. International Journal of Molecular Sciences, 2023, 24 (4), ⟨10.3390/ijms24043365⟩. ⟨hal-04004374⟩
16 View
28 Download

Altmetric

Share

Gmail Facebook X LinkedIn More