Metabolomic Study of All-age Cardiomyopathy
Dilated CardiomyopathyHypertrophic Cardiomyopathy3 moreThis study aims to 1)characterize the differentially expressed metabolites between cardiomyopathy patients and healthy controls,2)identify the specific biomarkers associated with outcomes or risk evaluation in patients with different cardiomyopathies in a follow-up of a cohort and 3)to determine whether differentially expressed may affect the pathological process of cardiomyopathies . Standardized protocols will be used for the assessment of medical history and examinations, laboratory biomarkers, and the collection of blood plasma.
New Diagnostic Strategy in Hypertrophic Cardiomyopathy
Hypertrophic CardiomyopathyHypertrophic cardiomyopathy (HCM) is an autosomal dominant disease characterized by unexplained hypertrophy of the left ventricle, often with predominant involvement of the interventricular septum, and characterized by myocyte disarray and fibrosis. HCM is the most common familial heart disease with strong genetic heterogeneity, demonstrated over the past 20 years. Mutations in 11 or more genes encoding proteins of the cardiac sarcomere are responsible for (or associated with) HCM. However, 30-40% of sporadic and familial cases of HCM are still genetically unlabelled. In addition, secondary HCM caused by Fabry's disease or amyloidosis, may mimic primary HCM and may be under diagnosed. This may result in a delay in accurate diagnosis and instauration of specific treatment, with possible clinical consequences for the patients. For these reasons, we decided to apply a new diagnostic strategy for patients with newly diagnosed HCM, including the whole exome sequencing (WES) technology. If correctly applied, this new technology has the potential to strongly reduce the diagnostic wavering leading to earlier diagnosis and genetic counseling in sarcomeric HCM and rarer forms of secondary HCM including Fabry's disease and amyloidosis, and also specific therapy set-up in secondary forms of HCM. It should also allow identifying new genes responsible for HCM.
Morbidity and Mortality in Patients With Hypertrophic Cardiomyopathy: a CALIBER Study
Hypertrophic CardiomyopathyThe aim of this project is to study the association of a number of demographic and cardiovascular risk factors with death, health care utilisation and systemic embolisation by examining the clinical evolution of hypertrophic cardiomyopathy in a large, community based cohort identified from linked electronic health records.
Extended Ambulatory Monitoring Improves Risk Stratification in Hypertrophic Cardiomyopathy
Hypertrophic CardiomyopathyEligible subjects will wear 4 consecutive external monitoring devices for a total of 28 days of monitoring.
Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases
Long QT SyndromeHypertrophic Cardiomyopathy1 moreThe aim of this study is the identification of familial congenital arrhythmogenic disorders and their clinical follow-up.
Comparison of Data Obtained by Echocardiography and Magnetic Resonance Imaging in Hypertrophic Cardiomyopathy...
Hypertrophic CardiomyopathyCompare data (structural and functional) obtained by transthoracic rest echocardiography and magnetic resonance imaging (with gadolinium) in 30 patients with hypertrophic cardiomyopathy
Risk Stratification in Children and Adolescents With Primary Cardiomyopathy
Primary CardiomyopathyDilated Cardiomyopathy4 moreRIKADA is a prospective study performing systematic family screening including clinical and genetic testing in pediatric patients with primary cardiomyopathy and their first-degree relatives with the aim to facilitate risk stratification.
An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in China
Dilated CardiomyopathyHypertrophic Cardiomyopathy3 moreThis is a multi-omics research of Chinese cardiomyopathies patients, aiming to determine genetic risk factor and serial biomarkers of cardiomyopathies in diagnosis and prognosis.