The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies

The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies

Sudden cardiac death represents an unexpected death for which a strong underlying genetic background has been described. The primary causes are identified in cardiomyopathies and channelopathies, which are heart diseases of the muscle and electrical system, respectively, without coronary artery dise...

Full description

Saved in:

Bibliographic Details
Main Authors:	Valerio Caputo, Virginia Veronica Visconti, Enrica Marchionni, Valentina Ferradini, Clara Balsano, Pasquale De Vico, Leonardo Calò, Ruggiero Mango, Giuseppe Novelli, Federica Sangiuolo
Format:	Article
Language:	English
Published:	MDPI AG 2025-07-01
Series:	Journal of Cardiovascular Development and Disease
Subjects:	cardiomyopathies (CMPs) dilated cardiomyopathy (DCM) hypertrophic cardiomyopathy (HCM) arrhythmogenic cardiomyopathy (ACM) channelopathies (CNPs) long QT syndrome (LQTS)
Online Access:	https://www.mdpi.com/2308-3425/12/7/258
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Exercise Prescription in Arrhythmogenic Cardiomyopathy: Finding the Right Balance Between Risks and Benefits
by: Lorenzo‐Lupo Dei, et al.
Published: (2025-06-01)

A paradigm shift in the concept of arrhythmogenic cardiomyopathy: expanding the clinical and genetic spectrum, new diagnostic criteria for left ventricular phenotypes
by: T. G. Vaikhanskaya, et al.
Published: (2020-11-01)

An unusual thrombus in a patient with arrhythmogenic cardiomyopathy
by: Sezgin Atmaca, et al.
Published: (2025-03-01)

Electrocardiogram May Fail to Identify Proportion of High-Risk Individuals: Analysis of Series of 50 Sudden Death Cases
by: Mariela Salar-Alcaraz, et al.
Published: (2025-02-01)

Development of neurogenic stress cardiomyopathy after fourth ventricle tumor surgery
by: D. A. Doroshenko, et al.
Published: (2014-07-01)

Mixed phenotype cardiomyopathy, associated with DSP genetic variant: a case report and literature review.
by: I. V. Shlyk, et al.
Published: (2020-11-01)

CLINICAL AND HEMODYNAMIC INTERRELATIONS OF ARRHYTHMIA COURSE IN CHILDREN OF 0 TO 7 YEARS OLD
by: L. I. Svintsova, et al.
Published: (2014-12-01)

Critical predictors of heart transplant necessity in children with advanced DCM
by: Zubo Wu, et al.
Published: (2025-08-01)

Arrhythmogenic Cardiomyopathy with Biventricular Involvement and Right Ventricular Thrombosis: A Multi-modality Imaging Approach
by: Fawaz Bardooli, et al.
Published: (2025-01-01)

An Unusual Case of 11αB‐Crystallin (CRYAB) Mutation as a Cause of Dilated Cardiomyopathy With Restrictive Physiology: A Case Report and Focused Review of the Literature
by: Porras Bueno Cristian Orlando, et al.
Published: (2025-03-01)

About so called “inflammatory cardiomyopathy”
by: S. R. Mravyan, et al.
Published: (2005-06-01)

Phenotype variation of hypertrophic cardiomyopathy in carriers of the p.Arg870His pathogenic variant in the MYH7 gene
by: A. N. Kucher, et al.
Published: (2022-10-01)

Dilated cardiomyopathy evaluation with Imagenomics: combining multimodal cardiovascular imaging and genetics
by: Kristian Galanti, et al.
Published: (2025-08-01)

Pulmonary embolism and ventricular tachycardia as the first symptoms of arrhythmogenic right ventricular cardiomyopathy in a 71-year-old woman
by: Alexander Suchodolski, et al.
Published: (2025-06-01)

Electrocardiographic parameters and features of ventricular arrhythmias in various arrhythmogenic cardiomyopathy forms in the pediatric population: a systematic review and meta-analysis
by: D. Yu. Alekseeva, et al.
Published: (2022-09-01)

Similar burden of rare genetic variants in ischemic and non-ischemic dilated cardiomyopathy
by: Louie Cao, et al.
Published: (2025-04-01)

EVALUATION OF THE MACROMOLECULAR STRUCTURE OF CARDIAC MYOCYTES IN PATIENTS WITH VARIOUS FORMS OF CARDIOMYOPATHY
by: A. G. Kupriyanova, et al.
Published: (2012-05-01)

Association Between Sleep Quality and Cirrhotic Cardiomyopathy: A Prospective Case-Control Study
by: Liu F, et al.
Published: (2024-12-01)

Biventricular arrhythmogenic cardiomyopathy and sudden cardiac death: forensic perspectives based on autopsy case report
by: Nora Fnon, et al.
Published: (2025-07-01)

A CASE OF DNA-DIAGNOSTICS APPLICATION FOR ARRHYTHMOGENIC RIGHT VENTRICLE CARDIOMYOPATHY
by: A. G. Shestak, et al.
Published: (2016-10-01)

A modern view on the pathogenesis, diagnosis and treatment of alcoholic cardiomyopathy
by: Zh. D. Kobalava, et al.
Published: (2019-11-01)

Effect of obesity on myocardial tissue characteristics in patients with hypertrophic cardiomyopathy: a cardiovascular magnetic resonance-based study
by: Jie Wang, et al.
Published: (2025-01-01)

Acute myocardial infarction-like event in a young patient with biventricular arrhythmogenic cardiomyopathy
by: Y. V. Stavtseva, et al.
Published: (2024-03-01)

Clinical characteristics of various arrhythmogenic cardiomyopathy phenotypes in the pediatric population: a systematic review and meta-analysis
by: D. Yu. Alekseeva, et al.
Published: (2022-12-01)

High-Intensity Training on Patients with Hypertrophic Cardiomyopathy: A Systematic Review
by: Catalya Christina Cantika, et al.
Published: (2025-05-01)

Early-onset restrictive cardiomyopathy with life-threatening arrhythmia caused by a homozygous desmin mutation: a case report
by: Tianjiao Wang, et al.
Published: (2025-07-01)

SUBACUTE MYOCARDITIS: MYTHS AND REALITY
by: P. A. Shesternya, et al.
Published: (2014-07-01)

СЛУЧАЙ НЕКЛАССИФИЦИРОВАННОЙ ПРИОБРЕТЕННОЙ КАРДИОМИОПАТИИ TAKO-TSUBO
by: Н. В. Аминева, et al.
Published: (2012-06-01)

Advances in understanding, diagnosis and targeting ATTR cardiomyopathy: a review
by: Maria Kulak, et al.
Published: (2024-06-01)

Utility of Cardiac CT for Cardiomyopathy Phenotyping
by: Ramzi Ibrahim, et al.
Published: (2025-03-01)

Evaluating the Role of Multimodal Imaging in the Diagnosis of Cardiac Amyloidosis and Hypertrophic Cardiomyopathy
by: Zi‐xin Yang, et al.
Published: (2025-05-01)

Overview of Restrictive Cardiomyopathies
by: Smitha Narayana Gowda, et al.
Published: (2022-03-01)

Electron microscopic findings predict clinical outcomes in patients with non‐ischaemic cardiomyopathy
by: Rie Higuchi, et al.
Published: (2025-08-01)

Pathogenic Variant Rs1471414348of the TTN Gene in the Patient with Familial Left Venticular Noncompaction Cardiomyopathy
by: O. V. Kulikova, et al.
Published: (2019-09-01)

The MYH7 c.2770G > A (p.Glu924Lys) mutation exhibits phenotypic heterogeneity in hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM): a case report
by: Yuanyuan Han, et al.
Published: (2025-07-01)

Non-compaction and dilated cardiomyopathy: genotypic, phenotypic and prognostic differences
by: T. G. Vaykhanskaya, et al.
Published: (2022-11-01)

A Rare Case of Iatrogenic Inverted Stress Cardiomyopathy
by: Parviz-Ali Lotfian, et al.
Published: (2022-09-01)

Atrial electrical alterations with intact cardiac structure and contractile function in a mouse model of an HCM-linked ACTN2 variant
by: Maya Noureddine, et al.
Published: (2025-06-01)

Recurrent Takotsubo Cardiomyopathy With Variable Patterns and Psychiatric Comorbidities: A Case Report and Comprehensive Literature Review
by: Hamza AlKowatli, et al.
Published: (2025-07-01)

Cardiac magnetic resonance markers of pre-clinical hypertrophic and dilated cardiomyopathy in genetic variant carriers
by: Philip M. Croon, et al.
Published: (2025-07-01)