heart
- Spectrum of Clinical Features and Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children
Background: Left ventricular noncompaction (LVNC) is a genetically determined cardiomyopathy that occurs following a disruption of endomyocardial morphogenesis. The purpose of this study was to identi... Read More
- Analysis of ABC Transporter Gene Expression in Atherosclerosis
ABC transporters are a large family of membrane proteins that transport chemically diverse substrates across the cell membrane. Disruption of transport mechanisms mediated by ABC transporters causes t... Read More
- Arrhythmogenic Cardiomyopathy Further Insight into the Clinical Spectrum of Desmoplakin Disease
Arrhythmogenic cardiomyopathy is a familial heart muscle disease characterized by structural, electrical, and pathological abnormalities. Recognition of left ventricular (LV) involvement in arrhythmog... Read More
- MicroRNAs: From Junk RNA to Life Regulators and Their Role in Cardiovascular Disease
MicroRNAs (miRNAs) are single-stranded small non-coding RNA (1825 nucleotides) that until a few years ago were considered junk RNA. In the last twenty years, they have acquired more importance thanks... Read More
- Understanding the Function of a Locus Using the Knowledge Available at Single-Nucleotide Polymorphisms
Understanding the function of a locus is an issue in molecular biology. Although numerous molecular data have been generated in the last decades, it remains difficult to grasp how these data are relat... Read More
- Pathogenesis, Diagnosis and Risk Stratification in Arrhythmogenic Cardiomyopathy
Arrhythmogenic cardiomyopathy (ACM) is a genetically determined myocardial disease associated with sudden cardiac death (SCD). It is most frequently caused by mutations in genes encoding desmosomal pr... Read More
- Transthyretin Gene Variants and Associated Phenotypes in Danish Patients with Amyloid Cardiomyopathy
Genotyping divides transthyretin cardiac amyloidosis (ATTR-CA) in hereditary (ATTRv) and wild type (ATTRwt) forms. This study investigated the prevalence and clinical presentation of ATTRv in a contem... Read More
- Nanoparticle-Based Modification of the DNA Methylome: A Therapeutic Tool for Atherosclerosis
Cardiovascular epigenomics is a relatively young field of research, yet it is providing novel insights into gene regulation in the atherosclerotic arterial wall. That information is already pointing t... Read More
- Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP)
Background: Variants in the desmoplakin (DSP) gene have been recognized in association with the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC) for nearly 20 years. More recentl... Read More
- An Overview of Therapy Guidelines for Cardiac Arrest and the Potential Benefits of Hemoglobin-Based Oxygen Carriers
Currently, there is an unmet therapeutic need for the medical management of cardiac arrest, as is evident from the high mortality rate associated with this condition. These dire outcomes can be attrib... Read More
- The Roles of Platelet-Activating Factor and Magnesium in Pathophysiology of Hypertension, Atherogenesis, Cardiovascular Disease, Stroke and Aging
Hypertension and atherosclerosis are debilitating diseases that affect millions each year. Long-term consequences include but are not limited to stroke, myocardial infarction, and kidney failure. Plat... Read More
- Genetics of Heritable Thoracic Aortic Disease
Genetic testing plays an increasing diagnostic and prognostic role in the management of patients with heritable thoracic aortic disease (HTAD). The identification of a specific variant can establish o... Read More
- Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation
In thelast few decades, the roles of cardio-oncology and cardiovascular geneticsgained more and more attention in research and daily clinical practice, shaping a new clinical approach and management o... Read More
- Genetic Diagnostics Contribute to the Risk Stratification for Major Arrhythmic Events in Pediatric Patients with Long QT Syndrome Type 13
Long QT syndrome (LQTS) is an inherited arrhythmic disorder associated with sudden cardiac death (SCD). This study aimed to identify the clinical and molecular genetic risk factors that contribute to ... Read More
- Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference
Fabry disease (FD) is a multiorgan disease, which can potentially affect any organ or tissue, with the heart, kidneys, and central nervous system representing the major disease targets. FD can be susp... Read More
- Clinical and Molecular Characteristics of Patients with PLN R14del Cardiomyopathy: State-of-the-Art Review
The deletion of the arginine 14 codon (R14del) in the phospholamban (PLN) gene is a rare cause of arrhythmogenic cardiomyopathy (ACM) and is associated with prevalent ventricular arrhythmias, heart fa... Read More
- MYH7 GenotypePhenotype Correlation in a Cohort of Finnish Patients
Cardiomyopathies (CMPs) are a heterogeneous group of diseases, frequently genetic, affecting the heart muscle. The symptoms range from asymptomatic to dyspnea, arrhythmias, syncope, and sudden cardiac... Read More
- Pancarditis as the Clinical Presentation of Eosinophilic Granulomatosis with Polyangiitis: A Multimodality Approach to Diagnosis
Eosinophilic pancarditis (EP) is a rare, often unrecognized condition caused by endomyocardial infiltration of eosinophil granulocytes (referred as eosinophilic myocarditis, EM) associated with perica... Read More
- Clinical Phenotypes of Cardiovascular and Heart Failure Diseases Can Be Reversed The Holistic Principle of Systems Biology in Multifaceted Heart Diseases
Recent advances in cardiology and biological sciences have improved quality of life in patients with complex cardiovascular diseases (CVDs) or heart failure (HF). Regardless of medical progress, compl... Read More
- Left Ventricular Non-Compaction Spectrum in Adults and Children: From a Morphological Trait to a Structural Muscular Disease
Left ventricular non-compaction (LVNC) is an extremely heterogeneous disorder with a highly variable clinical presentation, morphologic appearance at imaging testing, and prognosis. It is still unclea... Read More