A5000083750- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- Cardiovascular Function and Risk Factors
- Genomics and Rare Diseases
- Connective tissue disorders research
- Viral Infections and Immunology Research
- Lysosomal Storage Disorders Research
- Aortic Disease and Treatment Approaches
- Nuclear Structure and Function
- Cardiac Valve Diseases and Treatments
- Glycogen Storage Diseases and Myoclonus
- RNA Research and Splicing
- Aortic aneurysm repair treatments
- Cardiovascular Health and Disease Prevention
- Genetics, Bioinformatics, and Biomedical Research
- Cardiac electrophysiology and arrhythmias
- Cardiac Structural Anomalies and Repair
- Cancer Genomics and Diagnostics
- Biomedical Text Mining and Ontologies
- Cardiovascular Disease and Adiposity
- Genomics and Chromatin Dynamics
- Carbohydrate Chemistry and Synthesis
- Coronary Interventions and Diagnostics
- Bioinformatics and Genomic Networks
- Neurogenetic and Muscular Disorders Research
European Institute of Oncology
2020-2021
Istituti di Ricovero e Cura a Carattere Scientifico
2010-2020
University of Pavia
2009-2020
Policlinico San Matteo Fondazione
2009-2020
Foundation University Islamabad
2017-2020
Polo d’Innovazione di Genomica
2020
Human Technopole
2018
Icahn School of Medicine at Mount Sinai
2017
University College London
2017
Foundation Center
2017
Background: Identification of people with hypertrophic cardiomyopathy (HCM) who are at risk sudden cardiac death (SCD) and require a prophylactic implantable cardioverter defibrillator is challenging. In 2014, the European Society Cardiology proposed new stratification method based on prediction model (HCM Risk-SCD) that estimates 5-year SCD. The aim was to externally validate 2014 recommendations in geographically diverse cohort patients recruited from United States, Europe, Middle East,...
We sought to describe the diagnostic work-up, phenotype, and long-term evolution of dilated cardiomyopathy (DCM) associated with Dystrophin (DYS) defects. X-linked DCM DYS defects can be clinically indistinguishable from other types DCM. The series comprises 436 consecutive male patients diagnosed Patients underwent endomyocardial biopsy (EMB). Genetic testing employed multiplex polymerase chain reaction multiple ligation dependent probe assay for deletions direct sequencing 79 exons...
This document describes the contribution of clinical criteria to interpretation genetic variants using heritable Mendelian cardiomyopathies as an example. The aim is assist cardiologists in defining a diagnosis and molecular reports. identification variant unknown or uncertain significance limitation testing, but current guidelines for include essential contributions from family screening that can establish de novo assignment its segregation with phenotype family. A partnership between...
<h3>Objective</h3> To evaluate the prevalence and phenotype of smooth muscle alpha-actin (<i>ACTA2</i>) mutations in non-syndromic thoracic aortic aneurysms dissections (TAAD). <h3>Design</h3> Observational study <i>ACTA2</i> TAAD. <h3>Setting</h3> Centre for Inherited Cardiovascular Diseases. <h3>Patients</h3> A consecutive series 100 patients with Exclusion criteria included genetically confirmed Marfan syndrome, Loeys–Dietz type 2, familial bicuspid valve Ehlers–Danlos IV syndromes....
Background The major clinical problem of Marfan syndrome (MFS) is the aortic root aneurysm, with risk dissection when diameter approximates 5 cm. In MFS, a key molecule, transforming growth factor-β (TGF-β), normally bound to extracellular matrix, free and activated. an experimental setting, TGF-β blockade prevents structural damage dilatation. angiotensin receptor 1 blockers (sartanics) exert anti-TGF-β effect; trials are now ongoing for evaluating effect losartan compared atenolol in MFS....
Background— Atrial dilatation and atrial standstill are etiologically heterogeneous phenotypes with poorly defined nosology. In 1983, we described 8-years follow-up of evolution in 8 patients from 3 families. We later identified 5 additional identical phenotypes: 1 member the largest original family 4 unrelated to All families same geographic area Northeast Italy. Methods Results— followed up 13 for 37 years, extended clinical investigation monitoring living relatives, investigated genetic...
Interaction between arterial stiffness and hypertension plays an important role in the development of cardiovascular disease. Accordingly, assessment may provide a tool for estimating risk monitoring therapy hypertensive patients. Radiofrequency-based vascular ultrasound allows accurate noninvasive local mechanical properties large arteries, but its use clinical practice, reference values according to age sex are mandatory each site. To common carotid artery as assessed by echo-tracking...
Global Heart is the official and primary publication of World Federation, offering a platform for dissemination knowledge on research, developments, trends, solutions public health programmes in area cardiovascular disease. welcomes research results, points view educational material prevention, treatment control disease with special focus low middle-income countries which are facing brunt epidemiological transition.Global strongly encourages authors to adhere CONSORT, STROBE, STARD, PRISMA...
Abstract Left ventricular non-compaction (LVNC) is defined by the triad: prominent trabecular anatomy, thin compacted layer, and deep inter-trabecular recesses. No person, sick or healthy, demonstrates identical anatomy of trabeculae; their configuration represents a sort individual dynamic ‘cardiac fingerprinting’. LVNC can be observed in healthy subjects with normal left (LV) size function, athletes, pregnant women, as well patients haematological disorders, neuromuscular diseases, chronic...
Whole gene expression analysis through microarray technologies revolutionized the manner of identifying changes in biological events and complex diseases, such as cardiovascular settings. These new methodologies may scan up to 35 000 transcripts at once rather than screening a small amount genes one time. The ability microarrays provide broad insight into disease process directly within tissues provides unique intracellular perturbations cell organization function sheds an entirely...