Functional Significance in Spontaneous Recanalization of a Coronary Thrombus.

Spontaneous recanalization of a coronary thrombus is an uncommon finding that may be confounded without intravascular imaging. There is little evidence regarding the functional impact of these lesions, which may be relevant to proper management. We present two cases of recanalized thrombus in which functional testing guided appropriate management.

Septal Ablation to Treat Subaortic Dynamic Obstruction Following Transcatheter Aortic Valve Implantation.

Dynamic obstruction of the left ventricle is an unusual complication that can occur after aortic valve replacement. It is important to be aware of this pathology as it requires different management than normal complications and can rapidly lead to death. We present a case of successful resolution following transcatheter aortic valve implantation.

Concurrent Resistance and Cardiorespiratory Training in Patients with Hypertrophic Cardiomyopathy: A Pilot Study.

Exercise training in patients with HCM has evidenced benefits on functional capacity, cardiac function, and a reversion of adverse cardiac remodeling. The objective of this study was to assess the effect of a concurrent resistance and cardiorespiratory training program on functional capacity, biochemical parameters, and echocardiographic variables in a pilot group. Two HCM patients were evaluated before and after 12 weeks of individualized concurrent training with two sessions/week.

Long-term reliability of the phospholamban (PLN) p.(Arg14del) risk model in predicting major ventricular arrhythmia: a landmark study.

Aims: Recently, a genetic variant-specific prediction model for phospholamban (PLN) p.(Arg14del)-positive individuals was developed to predict individual major ventricular arrhythmia (VA) risk to support decision-making for primary prevention implantable cardioverter defibrillator (ICD) implantation. This model predicts major VA risk from baseline data, but iterative evaluation of major VA risk may be warranted considering that the risk factors for major VA are progressive.

Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.

Background And Aims: Childhood-onset cardiomyopathies are rare and poorly characterized. This study examined the baseline characteristics and 1-year follow-up of children with cardiomyopathy in the first European Cardiomyopathy Registry.

Methods: Prospective data were collected on individuals aged 1-<18 years enrolled in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis long-term registry (June 2014-December 2016).

[Screening for heart disease in kids and adolescents (Prevencar Program)].

Objective: The objective was to develop a screening for heart disease detection in primary care, to identify pathological electrocardiographic changes and underlying heart disease in adolescents.

Design: The study was carried out for one year using multistage sampling. SITE: Primary care centers in a health area that had digital ECG equipment (12 centers) were selected.

The Novel Variant NP_00454563.2 () in Gene Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain.

Introduction And Objectives: Arrhythmogenic cardiomyopathy (ACM) is a hereditary heart disease defined by the progressive replacement of the ventricular myocardium with fibroadipose tissue, which can act as a substrate for arrhythmias, sudden death, or even give rise to heart failure (HF). Sudden death is frequently the first manifestation of the disease, particularly among young patients. The aim of this study is to describe a new pathogenic variant in the .

A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve.

Background: The complex genetics underlying human cardiac disease is evidenced by its heterogenous manifestation, multigenic basis, and sporadic occurrence. These features have hampered disease modeling and mechanistic understanding. Here, we show that 2 structural cardiac diseases, left ventricular noncompaction (LVNC) and bicuspid aortic valve, can be caused by a set of inherited heterozygous gene mutations affecting the NOTCH ligand regulator MIB1 (MINDBOMB1) and cosegregating genes.

ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium.

Introduction And Objectives: Missense mutations in the filamin C (FLNC) gene have been reported as cause of inherited cardiomyopathy. Knowledge of the pathogenicity and genotype-phenotype correlation remains scarce. Our aim was to describe a distinctive cardiac phenotype related to rare missense FLNC variants in the ROD2 domain.

Polymorphisms in ACE, ACE2, AGTR1 genes and severity of COVID-19 disease.

Background: Infection by the SARS-Cov-2 virus produces in humans a disease of highly variable and unpredictable severity. The presence of frequent genetic single nucleotide polymorphisms (SNPs) in the population might lead to a greater susceptibility to infection or an exaggerated inflammatory response. SARS-CoV-2 requires the presence of the ACE2 protein to enter in the cell and ACE2 is a regulator of the renin-angiotensin system.

Characterization of hereditary transthyretin cardiac amyloidosis in Spain.

Introduction And Objectives: Hereditary transthyretin amyloidosis (hATTR) is a disease caused by mutations in the transthyretin gene that frequently shows cardiac involvement due to amyloid deposition in the myocardium. Our objective was to identify cardiac involvement in a Spanish cohort.

Methods: Retrospective multicenter study of patients diagnosed with hATTR with cardiac involvement from Spanish centers.

Association of Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy.

Background: The clinical relevance of genetic variants in nonischemic dilated cardiomyopathy (DCM) is unsettled.

Objectives: The study sought to assess the prognostic impact of disease-causing genetic variants in DCM.

Methods: Baseline and longitudinal clinical data from 1,005 genotyped DCM probands were retrospectively collected at 20 centers.

Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction.

Background: Left ventricular noncompaction (LVNC) is a heterogeneous entity with uncertain prognosis.

Objectives: This study sought to develop and validate a prediction model of major adverse cardiovascular events (MACE) and to identify LVNC cases without events during long-term follow-up.

Methods: This is a retrospective longitudinal multicenter cohort study of consecutive patients fulfilling LVNC criteria by echocardiography or cardiovascular magnetic resonance.

Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers-reaching the frontiers of individual risk prediction.

Aims: This study aims to improve risk stratification for primary prevention implantable cardioverter defibrillator (ICD) implantation by developing a new mutation-specific prediction model for malignant ventricular arrhythmia (VA) in phospholamban (PLN) p.Arg14del mutation carriers. The proposed model is compared to an existing PLN risk model.

Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative Relatives.

Arrhythmogenic cardiomyopathy is a hereditary cause of ventricular arrhythmias and sudden death. Identifying the healthy genetic carriers who will develop the disease remains a challenge. A novel approach to the analysis of the digital electrocardiograms of mutation carriers through signal processing may identify early electrocardiographic abnormalities.

Association between new-onset right bundle branch block and primary or secondary ventricular fibrillation in ST-segment elevation myocardial infarction.

Aims: New-onset right bundle branch block (RBBB) in myocardial infarction (MI) is often associated with ventricular fibrillation (VF) but the nature of this relationship has not been determined.

Methods And Results: Between 1998 and 2014, among other data, incidence and duration of RBBB and VF occurrence were prospectively collected in 5301 patients with ST-segment elevation MI (STEMI) admitted to two University Hospitals in Murcia (Spain). Multinomial adjusted logistic regression analyses were used to examine the association between RBBB, attending to its duration, and VF according to its primary VF (PVF) or secondary VF (SVF) character.

Prevented Sudden Cardiac Death and Neurologic Recovery in Inherited Heart Diseases.

Inherited cardiovascular diseases are an important cause of sudden cardiac death (SD). The use of risk scores identify high risk patients who would benefit from an implantable cardioverter-defibrillators (ICDs). The development of automated devices for out-of-hospital cardiac arrest improves early resuscitation.

A Primary Prevention Clinical Risk Score Model for Patients With Brugada Syndrome (BRUGADA-RISK).

Objectives: The goal of this study was to develop a risk score model for patients with Brugada syndrome (BrS).

Background: Risk stratification in BrS is a significant challenge due to the low event rates and conflicting evidence.

Methods: A multicenter international cohort of patients with BrS and no previous cardiac arrest was used to evaluate the role of 16 proposed clinical or electrocardiogram (ECG) markers in predicting ventricular arrhythmias (VAs)/sudden cardiac death (SCD) during follow-up.

Towards an Enhanced Tool for Quantifying the Degree of LV Hyper-Trabeculation.

Left ventricular non-compaction (LVNC) is defined by an increase of trabeculations in left ventricular (LV) endomyocardium. Although LVNC can be in isolation, an increase in hypertrabeculation often accompanies genetic cardiomyopathies. Current methods for quantification of LV trabeculae have limitations.

Current use of cardiac magnetic resonance in tertiary referral centres for the diagnosis of cardiomyopathy: the ESC EORP Cardiomyopathy/Myocarditis Registry.

Aims: Cardiac magnetic resonance (CMR) is recommended in the diagnosis of cardiomyopathies, but it is time-consuming, expensive, and limited in availability in some European regions. The aim of this study was to determine the use of CMR in cardiomyopathy patients enrolled into the European Society of Cardiology (ESC) cardiomyopathy registry [part of the EURObservational Research Programme (EORP)].

Methods And Results: Three thousand, two hundred, and eight consecutive adult patients (34.

Catheter ablation of ventricular arrhythmias in left ventricular noncompaction cardiomyopathy.

Background: There are limited data on ventricular arrhythmias (VAs) associated with left ventricular noncompaction (LVNC) cardiomyopathy.

Objectives: This study aims to analyze the clinical and electrocardiographic characteristics of VAs in a group of patients with LVNC.

Methods: Forty-two nonrelated patients with LVNC and VAs were included that were evaluated at the Inherited Cardiac Disease Unit of the University Hospital Virgen Arrixaca (Murcia-Spain) (ERN Guard-Heart Centre, European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart).

Computer versus cardiologist: Is a machine learning algorithm able to outperform an expert in diagnosing a phospholamban p.Arg14del mutation on the electrocardiogram?

Background: Phospholamban (PLN) p.Arg14del mutation carriers are known to develop dilated and/or arrhythmogenic cardiomyopathy, and typical electrocardiographic (ECG) features have been identified for diagnosis. Machine learning is a powerful tool used in ECG analysis and has shown to outperform cardiologists.

Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial.

Background: Cardiac muscle hypercontractility is a key pathophysiological abnormality in hypertrophic cardiomyopathy, and a major determinant of dynamic left ventricular outflow tract (LVOT) obstruction. Available pharmacological options for hypertrophic cardiomyopathy are inadequate or poorly tolerated and are not disease-specific. We aimed to assess the efficacy and safety of mavacamten, a first-in-class cardiac myosin inhibitor, in symptomatic obstructive hypertrophic cardiomyopathy.