A5021505148- Cardiomyopathy and Myosin Studies
- Cardiovascular Function and Risk Factors
- Cardiovascular Effects of Exercise
- Congenital heart defects research
- Trypanosoma species research and implications
- Viral Infections and Immunology Research
- Williams Syndrome Research
- Cardiac Arrhythmias and Treatments
- Muscle Physiology and Disorders
- Peripheral Neuropathies and Disorders
- Cardiac pacing and defibrillation studies
- Cardiac electrophysiology and arrhythmias
- Congenital Heart Disease Studies
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Cardiac Structural Anomalies and Repair
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Chemotherapy-induced cardiotoxicity and mitigation
- Hereditary Neurological Disorders
- Aortic Disease and Treatment Approaches
- Cardiac Valve Diseases and Treatments
- Nerve injury and regeneration
- Ion channel regulation and function
- Connective tissue disorders research
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
Meyer Children's Hospital
2018-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2023-2025
Azienda Ospedaliero-Universitaria Careggi
2011-2021
GTx (United States)
2017
California State University, Stanislaus
2017
University of Michigan
2017
Brigham and Women's Hospital
2017
Stanford Medicine
2017
University of Florence
2010-2015
Azienda Ospedaliera G. Brotzu
2015
A better understanding of the factors that contribute to heterogeneous outcomes and lifetime disease burden in hypertrophic cardiomyopathy (HCM) is critically needed improve patient management outcomes. The Sarcomeric Human Cardiomyopathy Registry (SHaRe) was established provide scale data required address these issues, aggregating longitudinal datasets curated by eight international HCM specialty centers.
Mild hypertrophy but increased arrhythmic risk characterizes the stereotypic phenotype proposed for hypertrophic cardiomyopathy (HCM) caused by thin-filament mutations. However, whether such clinical profile is different from more prevalent thick-filament–associated disease unresolved. This study aimed to assess features and outcomes in a large cohort of patients with HCM associated mutations compared thick-filament HCM. Adult (age >18 years), 80 150 mutations, were followed an average 4.5...
AimsIn patients with hypertrophic cardiomyopathy (HCM) and atrial fibrillation (AF), radiofrequency catheter ablation (RFCA) represents a promising option. However, the predictors of RFCA efficacy remain largely unknown. We assessed outcome multicentre HCM cohort following for symptomatic AF refractory to medical therapy.
Predictors of lethal arrhythmic events (LAEs) after a pediatric diagnosis hypertrophic cardiomyopathy (HCM) are unresolved. Existing algorithms for risk stratification limited to patients older than 16 years because lack data on younger individuals.To describe the long-term outcome pediatric-onset HCM and identify age-specific factors.This study assessed with diagnosed from 1974 2016 in 2 national referral centers cardiomyopathies Florence, Italy. Patients metabolic syndromic disease were...
PurposeTo characterize the genetic architecture of left ventricular noncompaction (LVNC) and investigate extent to which it may represent a distinct pathology or secondary phenotype associated with other cardiac diseases.MethodsWe performed rare variant association analysis 840 LVNC cases 125,748 gnomAD population controls, compared results similar analyses on dilated cardiomyopathy (DCM) hypertrophic (HCM).ResultsWe observed substantial overlap indicating that often represents phenotypic...
Variants in myosin heavy chain 7 (MYH7) are responsible for disease 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history MYH7-related DCM poorly described.We sought determine phenotype prognosis DCM. We also evaluated influence variant location on phenotypic expression.We studied data from 147 individuals DCM-causing MYH7 variants (47.6% female; 35.6 ± 19.2 years) recruited 29 international centers.At initial evaluation, 106...
Abstract Aims Calmodulinopathy due to mutations in any of the three CALM genes (CALM1–3) causes life-threatening arrhythmia syndromes, especially young individuals. The International Registry (ICalmR) aims define and link increasing complexity clinical presentation underlying molecular mechanisms. Methods results ICalmR is an international, collaborative, observational study, assembling analysing genetic data on CALM-positive patients. has enrolled 140 subjects (median age 10.8 years...
The R403Q mutation in β‐myosin heavy chain was the first to be identified as responsible for familial hypertrophic cardiomyopathy (FHC). In spite of extensive work on functional sequelae this mutation, mechanism by which mutant protein causes disease has not been definitely identified. Here we directly compare contraction and relaxation mechanics single myofibrils from left ventricular samples one patient carrying those a healthy control heart. Tension generation following sudden increase...
The clinical course of patients with hypertrophic cardiomyopathy and advanced heart failure (HF) subtended by progressive left ventricular dysfunction has received limited attention. Our aim was to assess the outcome HF impact treatment options including implantable cardioverter-defibrillator transplantation (HT) in evaluated at 2 Italian referral centers >3 decades.All-cause mortality a combined end point death, HT, or appropriate shock were assessed 71 consecutive not related outflow...
Next-generation sequencing might be particularly advantageous in genetically heterogeneous conditions, such as hypertrophic cardiomyopathy (HCM), which a considerable proportion of patients remain undiagnosed after Sanger. In this study, we present an Italian family with atypical HCM novel disease-causing variant α-actinin 2 (ACTN2) was identified by next-generation sequencing.A large spanning 4 generations examined, exhibiting autosomal dominant cardiomyopathic trait comprising variable...
Genetic testing in hypertrophic cardiomyopathy (HCM) has long relied on Sanger sequencing of sarcomeric genes. The advent next-generation (NGS) catalyzed routine additional genes dubious HCM-causing potential. We used 19 years genetic results to define a reliable set implicated Mendelian HCM and assess the value expanded NGS panels.We dissected from 1,198 single-center probands devised widely applicable score identify which yield effective diagnostic setting.Compared with early panels...
Background: The pathogenesis of MYBPC3 -associated hypertrophic cardiomyopathy (HCM) is still unresolved. In our HCM patient cohort, a large and well-characterized population carrying the :c772G>A variant (p.Glu258Lys, E258K) provides unique opportunity to study basic mechanisms -HCM with comprehensive translational approach. Methods: We collected clinical genetic data from 93 patients variant. Functional perturbations were investigated using different biophysical techniques in left...
The emergence of next-generation sequencing (NGS) platforms imposes increasing demands on statistical methods and bioinformatic tools for the analysis management huge amounts data generated by these technologies. Even at early stages their commercial availability, a large number softwares already exist analyzing NGS data. These can be fit into many general categories including alignment sequence reads to reference, base-calling and/or polymorphism detection, de novo assembly from paired or...