Understanding the molecular basis of cardiomyopathy

ML Bang, J Bogomolovas… - American Journal of …, 2022 - journals.physiology.org
Inherited cardiomyopathies are a major cause of mortality and morbidity worldwide and can
be caused by mutations in a wide range of proteins located in different cellular …

Cardiomyopathies in children and systemic disorders when is it useful to look beyond the heart?

V Lodato, G Parlapiano, F Calì, MS Silvetti… - Journal of …, 2022 - mdpi.com
Cardiomyopathy (CMP) is a rare disease in the pediatric population, with a high risk of
morbidity and mortality. The genetic etiology of CMPs in children is extremely heterogenous …

Towards a better understanding of genotype–phenotype correlations and therapeutic targets for cardiocutaneous genes: the importance of functional studies above …

MCSC Vermeer, D Andrei, L Marsili… - International journal of …, 2022 - mdpi.com
Genetic variants in gene-encoding proteins involved in cell–cell connecting structures, such
as desmosomes and gap junctions, may cause a skin and/or cardiac phenotype, of which …

Update on risk factors and biomarkers of sudden unexplained cardiac death

J Lou, H Chen, S Huang, P Chen, Y Yu… - Journal of Forensic and …, 2022 - Elsevier
Sudden cardiac death (SCD) accounts for approximately 15%–20% of all deaths worldwide,
the causes of which are mainly structural heart diseases. However, SCD also occurs in …

Genetic predisposition study of heart failure and its association with cardiomyopathy

V Kaviarasan, V Mohammed… - The Egyptian Heart Journal, 2022 - Springer
Heart failure (HF) is a clinical condition distinguished by structural and functional defects in
the myocardium, which genetic and environmental factors can induce. HF is caused by …

Increased risk of cardiac arrhythmia in Hailey-Hailey disease patients

W Jebril, P Curman, DC Andersson, H Larsson… - PloS one, 2024 - journals.plos.org
Background Hailey-Hailey disease (HHD) is a rare autosomal dominant skin disease
caused by mutations in the ATP2C1 gene, which encodes the secretory Ca2+/Mn2+-ATPase …

Isolated JUP plakoglobin gene mutation with left ventricular fibrosis in familial arrhythmogenic right ventricular cardiomyopathy

D Zinkovsky, MR Sood - Journal of Cardiovascular …, 2023 - Wiley Online Library
Introduction Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare inherited
disorder usually affecting the right ventricle (RV), characterized by fibro‐fatty tissue …

Cheek-Pro-Heart: What Can the Buccal Mucosa Do for Arrhythmogenic Cardiomyopathy?

C Bueno-Beti, A Asimaki - Biomedicines, 2023 - mdpi.com
Arrhythmogenic cardiomyopathy (ACM) is a heart muscle disease associated with
ventricular arrhythmias and a high risk of sudden cardiac death (SCD). Although the disease …

Clinical and Molecular Aspects of Naxos Disease

I Protonotarios, A Asimaki, Z Xylouri… - Heart Failure …, 2022 - heartfailure.theclinics.com
Naxos disease (McKusick# 601214) is an inherited disorder associating arrhythmogenic
right ventricular cardiomyopathy (ARVC) with palmoplantar keratoderma (PPK), as well as …

Isolated JUP Plakoglobin Gene Mutation with Left Ventricular Fibrosis in Familial Arrhythmogenic Right Ventricular Cardiomyopathy

MR Sood, D Zinkovsky - Authorea Preprints, 2023 - authorea.com
Introduction: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a rare inherited
disorder usually affecting the right ventricle (RV), characterized by fibro-fatty tissue …