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

• Published in: International journal of molecular sciences Vol. 24; no. 4; p. 3365
• Main Authors: Zaffran, Stéphane, Kraoua, Lilia, Jaouadi, Hager
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 08.02.2023; MDPI
• Subjects: Calcium (intracellular); Calcium - metabolism; Calcium ions; calcium mishandling; Calcium, Dietary - metabolism; Cardiac arrhythmia; Cardiology and cardiovascular system; Cardiomyocytes; Cardiomyopathy; Cardiomyopathy, Hypertrophic; Cardiomyopathy, Hypertrophic - metabolism; catecholaminergic polymorphic ventricular tachycardia; Channelopathy; Coronary artery disease; Development and progression; Etiology; excitation–contraction coupling; Exercise; Genes; Genetic aspects; Genetics; Handling; Heart; Heart diseases; Heart Diseases - metabolism; Heterogeneity; Homeostasis; Human health and pathology; Humans; hypertrophic cardiomyopathy; Kinases; Life Sciences; Muscle contraction; Mutation; Myocytes, Cardiac - metabolism; Phosphorylation; Physical fitness; Proteins; Review; Reviews; Ryanodine Receptor Calcium Release Channel - metabolism; Tachycardia; Tachycardia, Ventricular - genetics; Ventricle; Ventricular tachycardia; hypertrophic cardiomyopathy; catecholaminergic polymorphic ventricular tachycardia; calcium mishandling; excitation–contraction coupling; excitation-contraction coupling
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms24043365

Calcium (Ca ) 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 can cause different types of cardiac dysfunction. Thus, the remodeling of Ca 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 levels are regulated by several Ca -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.