Clinical validation of an artificial intelligence-based decision support system for diagnosis and risk stratification of heart failure (STRATIFYHF): a protocol for a prospective, multicentre longitudinal study.

Introduction: Heart failure (HF) is a complex clinical syndrome. Accurate risk stratification and early diagnosis of HF are challenging as its signs and symptoms are non-specific. We propose to address this global challenge by developing the STRATIFYHF artificial intelligence-driven decision support system (DSS), which uses novel analytical methods in determining the risk, diagnosis and prognosis of HF.

Sacubitril/valsartan for the treatment of non-obstructive hypertrophic cardiomyopathy: An open label randomized controlled trial (SILICOFCM).

Aim: Sacubitril/valsartan treatment reduces mortality and hospitalizations in heart failure with reduced ejection fraction but has limited application in hypertrophic cardiomyopathy (HCM). The aim of this study was to evaluate the effect of sacubitril/valsartan on peak oxygen consumption (VO) in patients with non-obstructive HCM.

Methods And Results: This is a phase II, randomized, open-label multicentre study that enrolled adult patients with symptomatic non-obstructive HCM (New York Heart Association class I-III) who were randomly assigned (2:1) to receive sacubitril/valsartan (target dose 97/103 mg) or control for 16 weeks.

Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking.

Background: Electrocardiogram (ECG) has proven to be useful for early detection of cardiac involvement in Anderson-Fabry disease (AFD); however, little evidence is available on the association between ECG alterations and the progression of the disease.

Aim And Methods: To perform a cross sectional comparison of ECG abnormalities throughout different left ventricular hypertrophy (LVH) severity subgroups, providing ECG patterns specific of the progressive AFD stages. 189 AFD patients from a multicenter cohort underwent comprehensive ECG analysis, echocardiography, and clinical evaluation.

Bayesian Inference-Based Gaussian Mixture Models With Optimal Components Estimation Towards Large-Scale Synthetic Data Generation for Clinical Trials.

: To develop a computationally efficient and unbiased synthetic data generator for large-scale clinical trials (CTs). We propose the BGMM-OCE, an extension of the conventional BGMM (Bayesian Gaussian Mixture Models) algorithm to provide unbiased estimations regarding the optimal number of Gaussian components and yield high-quality, large-scale synthetic data at reduced computational complexity. Spectral clustering with efficient eigenvalue decomposition is applied to estimate the hyperparameters of the generator.

A "smart" Imputation Approach for Effective Quality Control Across Complex Clinical Data Structures.

The overwhelming need to improve the quality of complex data structures in healthcare is more important than ever. Although data quality has been the point of interest in many studies, none of them has focused on the development of quantitative and explainable methods for data imputation. In this work, we propose a "smart" imputation workflow to address missing data across complex data structures in the context of in silico clinical trials.

The friend within? The implantable cardioverter defibrillator between saving lives and chronically impairing them.

This article considers the way in which a medical technology, the implantable cardioverter defibrillator (ICD), by preventing fatal outcomes, in this case sudden death, deriving from cardiac diseases, and specifically hypertrophic cardiomyopathy, contributes to the development of a particular type of chronicity. While biomedicine celebrates technological advances in treatments and naturalises chronicity, focussing on life expectancy as a victory over the 'acute' aspects of the disease, the way in which patients live with the disease is left unquestioned. The article follows Smith-Morris's (2010) perspective in seeing chronicity as the never-ending process of identifying with one's disease, adding a focus on the role played by an embodied technology in relation to it.

Gender Related Differences in the Clinical Presentation of Hypertrophic Cardiomyopathy-An Analysis from the SILICOFCM Database.

: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease that affects approximately 1 in 500 people. Due to an incomplete disease penetrance associated with numerous factors, HCM is not manifested in all carriers of genetic mutation. Although about two-thirds of patients are male, it seems that female gender is associated with more severe disease phenotype and worse prognosis.

Disease Progression of Hypertrophic Cardiomyopathy: Modeling Using Machine Learning.

Background: Cardiovascular disorders in general are responsible for 30% of deaths worldwide. Among them, hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease that is present in about 1 of 500 young adults and can cause sudden cardiac death (SCD).

Objective: Although the current state-of-the-art methods model the risk of SCD for patients, to the best of our knowledge, no methods are available for modeling the patient's clinical status up to 10 years ahead.

Variational Gaussian Mixture Models with robust Dirichlet concentration priors for virtual population generation in hypertrophic cardiomyopathy: a comparison study.

Nowadays, there is a growing need for the development of computationally efficient virtual population generators for large-scale in-silico clinical trials. In this work, we utilize the Gaussian Mixture Models (GMM) with variational Bayesian inference (BGMM) using robust estimations of Dirichlet concentration priors for the generation of virtual populations. The estimations were based on an exponential transformation of the number of Gaussian components.

A machine learning-based risk stratification model for ventricular tachycardia and heart failure in hypertrophic cardiomyopathy.

Background: Machine learning (ML) and artificial intelligence are emerging as important components of precision medicine that enhance diagnosis and risk stratification. Risk stratification tools for hypertrophic cardiomyopathy (HCM) exist, but they are based on traditional statistical methods. The aim was to develop a novel machine learning risk stratification tool for the prediction of 5-year risk in HCM.

A computational pipeline for data augmentation towards the improvement of disease classification and risk stratification models: A case study in two clinical domains.

Virtual population generation is an emerging field in data science with numerous applications in healthcare towards the augmentation of clinical research databases with significant lack of population size. However, the impact of data augmentation on the development of AI (artificial intelligence) models to address clinical unmet needs has not yet been investigated. In this work, we assess whether the aggregation of real with virtual patient data can improve the performance of the existing risk stratification and disease classification models in two rare clinical domains, namely the primary Sjögren's Syndrome (pSS) and the hypertrophic cardiomyopathy (HCM), for the first time in the literature.

Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy.

Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3) and β-myosin heavy chain (MYH7) which are responsible for approximately three-quarters of the identified mutations.

Methods: As a part of the international multidisciplinary SILICOFCM project ( www.

Generation of virtual patient data for in-silico cardiomyopathies drug development using tree ensembles: a comparative study.

In-silico clinical platforms have been recently used as a new revolutionary path for virtual patients (VP) generation and further analysis, such as, drug development. Advanced individualized models have been developed to enhance flexibility and reliability of the virtual patient cohorts. This study focuses on the implementation and comparison of three different methodologies for generating virtual data for in-silico clinical trials.

Doctor-patient care relationship in genetic cardiomyopathies: An exploratory study on clinical consultations.

Background: The present study aims to explore the setting of consultation and communication between physicians and patients affected by genetic cardiomyopathies, investigating how the two parts of the therapeutic relationship participate and share information.

Methods And Results: 45 adult patients affected by various cardiomyopathies took part in a prospective case study while attending consultations at a cardiologic outpatient clinic constituting an Italian referral centre for cardiomyopathies. A researcher observed the consultations, which were audio-recorded and transcribed.

Design of the SILICOFCM study: Effect of sacubitril/valsartan vs lifestyle intervention on functional capacity in patients with hypertrophic cardiomyopathy.

Background: Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease with a broad spectrum of disease severity. HCM ranges from a benign course to a progressive disorder characterized by angina, heart failure, malignant arrhythmia, syncope, or sudden cardiac death. So far, no medical treatment has reliably shown to halt or reverse progression of HCM or to alleviate its symptoms.

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

Purpose: Genetic testing in hypertrophic cardiomyopathy (HCM) has long relied on Sanger sequencing of sarcomeric genes. The advent of next-generation sequencing (NGS) has catalyzed routine testing of additional genes of dubious HCM-causing potential. We used 19 years of genetic testing results to define a reliable set of genes implicated in Mendelian HCM and assess the value of expanded NGS panels.

Appraising the impact of left ventricular ejection fraction on outcomes of percutaneous drug-eluting stenting for unprotected left main disease: insights from a multicenter registry of 975 patients.

Background: Despite the well-known prognostic impact of systolic dysfunction in unselected patients undergoing percutaneous coronary intervention (PCI), limited data are available on its current predictive role after PCI for unprotected left main disease (ULM). We thus appraised the prognostic role of left ventricular ejection fraction (LVEF) in patients undergoing PCI for ULM with drug-eluting stents (DES).

Methods: Consecutive eligible subjects were retrospectively enrolled in a national registry.

Urgent surgery in patients with a recently implanted coronary drug-eluting stent: a phase II study of 'bridging' antiplatelet therapy with tirofiban during temporary withdrawal of clopidogrel.

Background: Patients with a recently implanted coronary drug-eluting stent (DES) who need urgent surgery are at increased risk of surgical bleeding unless clopidogrel is discontinued beforehand, but clopidogrel discontinuation has been associated with a high rate of adverse events due to stent thrombosis. This pilot study tested the hypothesis that the i.v.

Impact of bifurcation technique on 2-year clinical outcomes in 773 patients with distal unprotected left main coronary artery stenosis treated with drug-eluting stents.

Background: Distal unprotected left main coronary artery (ULMCA) stenosis represents a technical challenge for interventional cardiologists. In this study, we compared 2-year clinical outcomes of different stenting strategies in patients with distal ULMCA stenosis treated with drug-eluting stents.

Methods And Results: The survey promoted by the Italian Society of Invasive Cardiology on ULMCA stenosis was an observational study on patients with ULMCA stenosis treated with percutaneous coronary intervention.

Ostial and midshaft lesions vs. bifurcation lesions in 1111 patients with unprotected left main coronary artery stenosis treated with drug-eluting stents: results of the survey from the Italian Society of Invasive Cardiology.

Aims: In this study, we compared the cumulative risk of major adverse cardiac events (MACE) of patients with distal unprotected left main coronary artery (ULMCA) stenosis with those of patients with ostial and midshaft lesions treated with drug-eluting stent (DES).

Methods And Results: The survey promoted by the Italian Society of Invasive Cardiology on ULMCA stenosis was an observational study involving 19 high-volume Italian centres. We enrolled 1111 patients with ULMCA stenosis treated with DES.

Temporal pattern of ischemic events in relation to dual antiplatelet therapy in patients with unprotected left main coronary artery stenosis undergoing percutaneous coronary intervention.

Objectives: The aim of this study was to investigate whether there is a temporal pattern of ischemic events in relation to dual antiplatelet therapy in patients with unprotected left main coronary artery (ULMCA) stenosis treated with percutaneous coronary intervention (PCI).

Background: Identifying which periods during follow-up of patients with ULMCA stenosis treated with PCI are associated with higher risk of clinical events might help to improve therapeutic strategies.

Methods: We analyzed data from 15 centers involved in an observational study conducted by the Italian Society of Invasive Cardiology on patients with ULMCA stenosis treated with PCI.

Are drug-eluting stents superior to bare-metal stents in patients with unprotected non-bifurcational left main disease? Insights from a multicentre registry.

Aims: To compare long-term clinical outcome following drug-eluting stents (DES) or bare-metal stents (BMS) implantation on lesions located at the ostium or the shaft of the left main in a large real-world population. The advent of DES decreased the risk of unprotected left main coronary artery (ULMCA) restenosis when compared with BMS, but it is unclear if this advantage continues when non-bifurcational lesions are considered.

Methods And Results: The GISE-SICI registry is a retrospective, observational multicentre registry promoted by the Italian Society of Invasive Cardiology in which 19 high-volume participating centres enrolled 1453 consecutive patients who underwent percutaneous coronary intervention on ULMCA between January 2002 and December 2006.

Unplanned surgery after drug eluting stent implantation: a strategy for safe temporary withdrawal of dual oral antiplatelet therapy.

We describe four cases of patients with multiple coronary drug eluting stent implantation who underwent major surgery (cardiac and noncardiac) early after stent implantation and needed premature interruption of dual antiplatelet therapy. The transitory withdrawal of oral antiplatelet therapy was accomplished without complications with the use of an IIb/IIIa glycoprotein inhibitor (Tirofiban).

A comparison between coronary artery bypass grafting surgery and drug eluting stent for the treatment of unprotected left main coronary artery disease in elderly patients (aged > or =75 years).

Aims: In this study, we compared the clinical outcomes of elderly patients with unprotected left main coronary artery (ULMCA) stenosis treated with either coronary artery bypass grafting (CABG) or drug-eluting stent (DES).

Methods And Results: From January 2003 to April 2006, 259 patients with ULMCA stenosis and age > or =75 years underwent coronary revascularization with either CABG or DES. One hundred and sixty-one patients were treated with CABG and 98 with DES.