Kristen Medo
A5013965145- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- Viral Infections and Immunology Research
- Cardiac pacing and defibrillation studies
- Sports injuries and prevention
- Cardiac Arrhythmias and Treatments
- Genetics and Physical Performance
- Transplantation: Methods and Outcomes
- Biotin and Related Studies
- Nutrition, Genetics, and Disease
- RNA Research and Splicing
- RNA modifications and cancer
- Cardiac Fibrosis and Remodeling
- Cutaneous lymphoproliferative disorders research
- Vector-borne infectious diseases
- Cardiac Imaging and Diagnostics
- Cardiac tumors and thrombi
- Cardiac Structural Anomalies and Repair
- Pericarditis and Cardiac Tamponade
- Vascular Tumors and Angiosarcomas
- Nuclear Structure and Function
- Cardiovascular Function and Risk Factors
- Monoclonal and Polyclonal Antibodies Research
- Trypanosoma species research and implications
- Cytomegalovirus and herpesvirus research
University of Colorado Anschutz Medical Campus
2021-2025
University of Colorado Denver
2023
University of Trieste
2023
Azienda Sanitaria Universitaria Integrata di Trieste
2022
Pathogenic desmoplakin (DSP) gene variants are associated with the development of a distinct form arrhythmogenic cardiomyopathy known as DSP cardiomyopathy. Patients harbouring these at high risk for sustained ventricular arrhythmia (VA), but existing tools individualized arrhythmic assessment have proven unreliable in this population.
Patients with likely pathogenic/pathogenic desmoplakin (
Diverse genetic backgrounds often lead to phenotypic heterogeneity in cardiomyopathies (CMPs). Previous genotype-phenotype studies have primarily focused on the analysis of a single phenotype, and diagnostic prognostic features CMP genotype across different expressions remain poorly understood.We sought define differences outcome prediction when stratifying patients based phenotype at presentation compared with large cohort CMPs positive testing.Dilated cardiomyopathy (DCM), arrhythmogenic...
Abstract Background and Aims Pathogenic variants in the desmoplakin (DSP) gene are associated with development of a distinct arrhythmogenic cardiomyopathy phenotype not fully captured by either dilated (DCM), non-dilated left ventricular (NDLVC), or right (ARVC). Prior studies have described baseline DSP genetic, inflammatory, structural characteristics. However, cohort sizes limited full clinical characterization identification demographic predictors sustained arrhythmias (VAs), heart...
Importance Filamin C truncating variants (FLNCtv) are a rare cause of cardiomyopathy with heterogeneous phenotypic presentations. Despite high incidence life-threatening ventricular arrhythmias and sudden cardiac death (SCD), reliable risk predictors to stratify carriers FLNCtv lacking. Objective To determine factors predictive SCD/major (MVA) in FLNCtv. Design, Setting, Participants This was an international, multicenter, retrospective cohort study conducted from February 2023 June 2024....
Abstract Background and Aims Emery–Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) LMNA (EDMD2). Cardiac conduction defects atrial arrhythmia are common to both, but also cause end-stage heart failure (ESHF) malignant ventricular (MVA). This study aimed better characterize the cardiac complications of variants. Methods Consecutively referred variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA ESHF incidences male female...
The role of sex in determining the profile and outcomes patients with myocarditis is largely unexplored. We evaluated impact as a modifier factor clinical characterization natural history definite diagnosis myocarditis.We retrospectively analysed single-centre cohort consecutive (i.e. endomyocardial biopsy or cardiac magnetic resonance proven). Specific sub-analyses were performed cohorts chest pain, ventricular arrhythmias, heart failure different main symptoms at presentation. primary...
Background: Myocarditis is a leading cause of secondary cardiomyopathy and stems from infection, medications, or immune etiologies. Recent reports identify an overlap between myocarditis pathogenic / likely (P/LP) genetic variants dilated arrhythmogenic cardiomyopathies (DCM/ACM). Hypothesis: We hypothesized that to heart failure transplantation could be influenced by P/LP mutations for DCM/ACM. Aims: To evaluate the impact genetics in myocarditis, we investigated series patients presenting...
Background: The impact of genotype on the risk arrhythmia and heart failure in dilated arrhythmogenic cardiomyopathy (DCM/ACM) is not well defined. Better understanding genetic factors needed to improve patient stratification, management, outcomes. Methods: In this observational study, we leveraged international Sarcomeric Human Cardiomyopathy Registry (SHaRe) analyze effect arrhythmic gene variants clinical events patients with DCM/ACM (excluding right ventricular cardiomyopathy). Patients...
Introduction: Variants in the desmoplakin (DSP) gene are associated with a form of arrhythmogenic cardiomyopathy (ACM) characterized by high risk ventricular arrhythmias (VAs), heart failure (HF), and recurrent myocarditis. The clinical implications management myocarditis episodes DSP-ACM have been scarcely investigated major unmet challenge. Research Question: what is impact DSP-ACM? Is there any role for immunosuppression? Methods: Patients (pts) worldwide DSP-ERADOS Network (26...
Abstract Background Arrhythmogenic dilated cardiomyopathy (AR-DCM) combines phenotypical aspects of (DCM) and risk sudden cardiac death (SCD), typical the arrhythmogenic form (ACM). However, AR-DCM is often ambiguously defined leaving clinicians uncertain on how to identify these high-risk patients. The aims study were re-define based outcome related arrhythmic markers test usefulness novel definition in identifying genotypes (i.e., LMNA, FLNC, RBM20, desmosomal genes). Materials methods...
Abstract Background The combined prognostic role of cardiac magnetic resonance (CMR) and genotype in cardiomyopathies has not been fully investigated. aim this study was to identify specific genotype-CMR phenotype correlations a well-characterized cohort patients with spectrum left-sided spanning from arrhythmogenic (ACM) dilated cardiomyopathy (DCM), analyze patients’ outcome. Methods Results One-hundred seventy-four DCM (127) left sided ACM (47), who underwent comprehensive evaluation...
Abstract Aims Cardiomyopathies (CMP) are a heterogeneous group of heart disease characterized by structural and electrical abnormalities with no other secondary causative etiology frequently related to mutations in genes. Clinical evaluation phenotype definition the key factors for clinical classification CMPs. Recent studies this field have showed important overlaps between Dilated Cardiomyopathy (DCM) Arrhythmogenic (ACM), making diagnosis challenging task. The aim study is assess whether...