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Clinical Presentation and Therapy of Cardiomyopathies
Cardiomyopathies are a group of diseases that primarily affect the heart muscle, leading to mechanical or electrical dysfunction of the heart. They...
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Molecular Pathways and Animal Models of Cardiomyopathies
Cardiomyopathies are a heterogeneous group of disorders of the heart muscle that ultimately result in congestive heart failure. Rapid progress in...
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EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias
Inherited cardiomyopathies and arrhythmias (ICAs) are a prevalent and clinically heterogeneous group of genetic disorders that are associated with...
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Human Genetics of Cardiomyopathies
The identification of a disease-causing variant in a patient diagnosed with cardiomyopathy allows for presymptomatic testing in at risk relatives....
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De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies
BackgroundCardiomyopathies are a leading cause of progressive heart failure and sudden cardiac death; however, their genetic aetiology remains poorly...
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Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology
The cardiac troponin T variations have often been used as an example of the application of clinical genoty** for prognostication and risk...
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Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are leading causes of sudden death and heart failure in young,...
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Regulated cell death pathways in cardiomyopathy
Heart disease is a worldwide health menace. Both intractable primary and secondary cardiomyopathies contribute to malignant cardiac dysfunction and...
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Epigenetics of Cardiomyopathy: Histone Modifications and DNA Methylation
AbstractCardiomyopathies are an actively investigated clinically and genetically heterogeneous group of myocardial pathologies. At present, it is...
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Genome Editing and Heart Failure
Heart failure is a leading and growing cause of morbidity and mortality worldwide and clinically is defined by the presence of typical symptoms and...
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Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants
Background and ObjectivePediatric cardiomyopathies are clinically heterogeneous heart muscle disorders associated with significant morbidity and...
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Genome Editing and Pathological Cardiac Hypertrophy
Three major genome editing tools, transcription activator-like effector nucleases (TALENs), zinc finger nucleases (ZFNs), and clustered regularly...
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Genetic Variation in Titin in Patients with Hypertrophic and Noncompaction Cardiomyopathy
NGS was used to determine the coding sequence of the TTN gene in patients with left ventricular noncompaction cardiomyopathy (LVNC, 44 individuals)...
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The Scope of Mendelian Cardiomyopathy Genes
AbstractThe review analyses the scope of the genes of Mendelian cardiomyopathies (CM), specifically hypertrophic, dilated, arrhythmogenic, and...
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“Mendelian Code” in the Genetic Structure of Common Multifactorial Diseases
AbstractThe phenomenon of comorbidity between monogenic and multifactorial diseases suggests the involvement of a certain common number of genes and...
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Intestinal microbiota and metabolome perturbations in ischemic and idiopathic dilated cardiomyopathy
BackgroundVarious clinical similarities are present in ischemic (ICM) and idiopathic dilated cardiomyopathy (IDCM), leading to ambiguity on some...
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Genetic therapies for cardiomyopathy: survey of attitudes of the patient community for the CureHeart project
Cardiomyopathies are a group of inherited heart muscle disorders. Expressivity is variable and while sometimes mild, complications can result in...
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Genetic screening of relatives of decedents experiencing sudden unexpected death: medical examiner’s office referrals to a multi-disciplinary cardiogenetics program
Currently, no standardized system exists for evaluating and testing at-risk family members of decedents with abnormal post-mortem genetic testing in...
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Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases
BackgroundCardiomyopathies affect more than 0.5% of the general population. They are associated with high risk of sudden cardiac death, which can...
