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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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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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Pathogenetics of Cardiomyopathy
AbstractThe review summarizes the current knowledge on the role that genetic factors play in primary or Mendelian cardiomyopathies (CMs) and certain...
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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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Fine map** of candidate effector genes for heart rate
An elevated resting heart rate (RHR) is associated with increased cardiovascular mortality. Genome-wide association studies (GWAS) have...
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Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing
IntroductionThe implication of copy number variations in familial heart disease is known, although in-depth knowledge is lacking; hence, more studies...
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Genetic architecture of cardiac dynamic flow volumes
Cardiac blood flow is a critical determinant of human health. However, the definition of its genetic architecture is limited by the technical...
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Rare Pathogenic Variants in Mitochondrial and Inflammation-Associated Genes May Lead to Inflammatory Cardiomyopathy in Chagas Disease
AbstractCardiomyopathies are an important cause of heart failure and sudden cardiac death. Little is known about the role of rare genetic variants in...
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The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young
BackgroundSudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family...
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Genome Editing and Myocardial Development
Congenital heart disease (CHD) has a strong genetic etiology, making it a likely candidate for therapeutic intervention using genetic editing....
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Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications
PurposeCardiovascular disease (CVD) is the leading cause of death in adults in the United States, yet the benefits of genetic testing are not...
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Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank
Cardiometabolic diseases are the leading cause of death worldwide. Despite a known genetic component, our understanding of these diseases remains...
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Genetic Landscape of Dilated Cardiomyopathy
AbstractDilated cardiomyopathy (DCM) is one of the most common and clinically heterogeneous forms of cardiomyopathy characterized by a high risk of...
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Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center’s Experience Over 5 Years
Background and objectiveMolecular diagnosis in inherited cardiac diseases is challenging because of the significant genetic and clinical...
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A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations
PurposeThe purpose of this study is to use a genotype-first approach to explore highly penetrant, autosomal dominant cardiovascular diseases with...
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Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review
Single locus (Mendelian) diseases are a leading cause of childhood hospitalization, intensive care unit (ICU) admission, mortality, and healthcare...
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Mtochonrial Neurology: A Tale of Two Genomes
The pre-molecular era of mitochondrial diseases included evidence of muscle morphology, histochemistry and electron microscopy, multiple results of...
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Personalized medicine for cardiovascular diseases
Personalized medicine is an emerging concept involving managing the health of patients based on their individual characteristics, including...
