Right ventricular coupling predicts cardiopulmonary fitness in cardiac transthyretin amyloidosis.

Background: Wild-type transthyretin cardiac amyloidosis (ATTRwt) is an infiltrative disease leading to restrictive cardiomyopathy. We aimed to characterise exercise capacity in ATTRwt and to identify predictors of cardiopulmonary fitness, focusing on echocardiographic and clinical parameters.

Methods: We studied 110 ATTRwt patients from a prospective single-centre registry (2020-2024) by cardiopulmonary exercise testing (CPET).

Combined telemonitoring and telecoaching for heart failure improves outcome.

Telemedicine has been shown to improve the outcome of heart failure (HF) patients in addition to medical and device therapy. We investigate the effectiveness of a comprehensive telehealth programme in patients with recent hospitalisation for HF on subsequent HF hospitalisations and mortality compared to usual care in a real-world setting. The telehealth programme consists of daily remote telemonitoring of HF signs/symptoms and regular individualised telecoaching sessions.

Incidence and Predictors of Ventricular Arrhythmias in Transthyretin Amyloid Cardiomyopathy.

Background: Wild-type transthyretin amyloid cardiomyopathy (wtATTR-CM) is characterized by heart failure, conduction abnormalities and arrhythmias. The incidence of ventricular arrhythmias, particularly ventricular tachycardias (VTs), in wtATTR-CM is unclear. With the development of targeted therapies and improved overall prognosis, there is an unmet need to identify patients at high risk for VTs who might benefit from ICD therapy.

Echocardiographic evaluation of left ventricular function using an automated analysis algorithm is feasible for beginners and experts: comparison with invasive and non-invasive methods.

Aims: Echocardiographic measurement of left ventricular function using a user-friendly automated three-dimensional algorithm is highly attractive as it promises quick and accurate diagnosis, circumventing limitations associated with visual estimation or manual biplane measurements. We sought to assess the feasibility and correlation of such automated analysis with clinically established methods.

Methods: A total of 198 patients undergoing transthoracic echocardiography (TTE) with assessment of left ventricular parameters by automated software algorithm (Philips 3D-Heartmodel; 3D-HM) which additionally had either left ventricular angiography (LVA) or cardiac magnetic resonance (CMR) within 24 h of the TTE examination were analyzed.

Impact of Tele-Coaching During the COVID-19 Pandemic on Risk-Reduction Behavior of Patients with Heart Failure.

Our study assessed the effectiveness of tele-coaching over written information in educating patients with chronic heart failure (CHF) at high risk of hospitalization about corona virus disease 2019 (COVID-19). We analyzed the impact on number of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections and self-reported behavior change. In April 2020, a tele-coaching module and written summary about COVID-19, risk-reduction measures for prevention of COVID-19, and appropriate consultation of medical attention during the pandemic were integrated into an established tele-coaching program.

Systematic assessment of health care perception in adults with congenital heart disease in Germany.

Background: The number of adults with congenital heart disease (ACHD) is steadily rising due to increased survival rate and improved medical resources. Accordingly, more than 330,000 ACHD are currently living in Germany. Almost all of them require lifelong specialized medical follow-up for their chronic heart disease, often accompanied by residua, sequelae, or comorbidities.

Role of the Ambulatory Assessed Apnea-Hypopnea Index for Predicting Recurring Atrial Fibrillation After Ablation Therapy.

Catheter ablation is an effective treatment for atrial fibrillation (AF). Obstructive sleep apnea (OSA) is a known risk factor for recurrent AF. The apnea-hypopnea index (AHI) is a measurement tool to screen patients for OSA.

The Genetic Makeup of the Electrocardiogram.

The electrocardiogram (ECG) is one of the most useful non-invasive diagnostic tests for a wide array of cardiac disorders. Traditional approaches to analyzing ECGs focus on individual segments. Here, we performed comprehensive deep phenotyping of 77,190 ECGs in the UK Biobank across the complete cycle of cardiac conduction, resulting in 500 spatial-temporal datapoints, across 10 million genetic variants.

Facts about the General Medical Care of Adults with Congenital Heart Defects: Experience of a Tertiary Care Center.

: Due to the increase in survival rates for congenital heart disease (CHD) in the last decades, over 90% of patients today reach adulthood. Currently, there are more than 300,000 adults with CHD (ACHD) living in Germany. They have an increased need for specialized medical care, since almost all ACHD have chronic heart disease and suffer from specific chronic symptoms, risks, and sequelae.

[Meaningful diagnostics: genetics].

Molecular genetic analysis is an important component in the diagnostics of some cardiovascular diseases; however, genetic testing should not be used as a screening technique as the diagnostic value strongly depends on anamnestic and clinical factors, such as a positive family history and the disease phenotype. In cardiovascular diseases with high mutation detection rates, e.g.

KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern.

BACKGROUNDThe presence of an early repolarization pattern (ERP) on the surface ECG is associated with risk of ventricular fibrillation and sudden cardiac death. Family studies have shown that ERP is a highly heritable trait, but molecular genetic determinants are unknown.METHODSTo identify genetic susceptibility loci for ERP, we performed a GWAS and meta-analysis in 2,181 cases and 23,641 controls of European ancestry.

Left ventricular geometry and function in early repolarization: results from the population-based Gutenberg Health Study.

Aims: The electrocardiographic pattern of early repolarization (ER) is related to increased cardiac mortality in the general population. The pathophysiological basis of ER is largely unknown. We investigated the association of echocardiographic structural and functional parameters of the left ventricle with the presence of ER in the community.

The early repolarization pattern: Echocardiographic characteristics in elite athletes.

Background: The electrocardiographic early repolarization (ER) pattern is associated with idiopathic ventricular fibrillation and increased long-term cardiovascular mortality. Whether structural cardiac aberrations influence the phenotype is unclear. Since ER is particularly common in athletes, we evaluated its prevalence and investigated predisposing echocardiographic characteristics and cardiopulmonary exercise capacity in a cohort of elite athletes.

The narrow-sense and common single nucleotide polymorphism heritability of early repolarization.

Background: Early repolarization (ER) is a risk marker for sudden cardiac death. Higher risk is associated with horizontal/descending ST-segment ER in the inferior or inferolateral ECG leads. Studies in family cohorts have demonstrated substantial heritability for the ER pattern, but genome-wide association studies (GWAS) have failed to identify statistically significant and replicable genetic signals.

Lipid-modifying therapy and low-density lipoprotein cholesterol goal attainment in patients with familial hypercholesterolemia in Germany: The CaReHigh Registry.

Background And Aims: Familial hypercholesterolemia (FH) is amongst the most common genetic disorders encountered in primary care. Yet, only a minority of affected patients is diagnosed and treated. This interim analysis of the CaRe High Registry aims at examining the state of treatment and attainment of lipid goals in German FH patients.

Prophylactic ECMO during TAVI in patients with depressed left ventricular ejection fraction.

Background: This study investigated the impact of prophylactic veno-arterial extracorporeal membrane oxygenation (pECMO) in patients with depressed left ventricular ejection fraction (dLVEF) undergoing transcatheter aortic valve implantation (TAVI).

Methods: Out of 1490 patients undergoing TAVI at two centers (2010-2015), 222 patients had dLVEF (≤ 40%). Of these, 21 patients (10%) underwent TAVI with pECMO.

Determinants of elevated carbohydrate antigen 125 in patients with severe symptomatic aortic valve stenosis referred for transcatheter aortic valve implantation.

Purpose: Elevated carbohydrate antigen 125 (CA125) predicts adverse outcome after transcatheter aortic valve implantation (TAVI). While known underlying pathophysiological mechanisms of elevated CA125 include serosal effusions and inflammatory stimuli, clinical determinants associated with elevated CA125 in patients referred for TAVI remain unknown. Therefore, we investigated clinical, laboratory and echocardiographic determinants of elevated CA125 in patients with severe aortic valve stenosis referred for TAVI.

Emergency extracorporeal membrane oxygenation in transcatheter aortic valve implantation: A two-center experience of incidence, outcome and temporal trends from 2010 to 2015.

Background: Although the incidence of periprocedural complications has decreased in transcatheter aortic valve implantation (TAVI), life-threatening complications occur and emergency veno-arterial extracorporeal membrane oxygenation (vaECMO) can provide immediate circulatory stabilization. We report our two-center experience of vaECMO during life-threatening complications in TAVI.

Methods: From January 2010 to December 2015, 1,810 consecutive patients underwent TAVI at two centers.

Ventricular and Supraventricular Ectopy in Subjects With Early Repolarization.

Early repolarization (ER) is a common electrocardiographic (ECG) finding that is associated with an increased risk of idiopathic ventricular fibrillation and sudden cardiac death. This study investigated whether the presence of ER is a predictor of ventricular and supraventricular ectopy as a marker for electrical instability. Standard 12-lead electrocardiograms of the first follow-up in the population-based Study of Health in Pomerania (SHIP-1) (n = 3,300, age 20 to 79 years) were analyzed to identify subjects with an ER pattern.

The Prevalence and Significance of the Early Repolarization Pattern in Sudden Arrhythmic Death Syndrome Families.

Background: The early repolarization (ER) pattern is associated with sudden death and has been shown to be heritable. Its significance when identified in families affected by sudden arrhythmic death syndrome (SADS) remains unclear.

Methods And Results: We analyzed 12-lead ECGs of 401 first-degree relatives of individuals who had died from SADS.

Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report.

Background: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited disease mainly found in young people causing malignant arrhythmias which can result in sudden cardiac death. Due to unspecific symptoms the diagnosis of ARVC is still challenging and requires clinical testing and expert knowledge. Genetic testing of index patients is helpful in the primary diagnosis and further testing of family members may allow for prevention of sudden cardiac death.

Dysfunctional nitric oxide signalling increases risk of myocardial infarction.

Myocardial infarction, a leading cause of death in the Western world, usually occurs when the fibrous cap overlying an atherosclerotic plaque in a coronary artery ruptures. The resulting exposure of blood to the atherosclerotic material then triggers thrombus formation, which occludes the artery. The importance of genetic predisposition to coronary artery disease and myocardial infarction is best documented by the predictive value of a positive family history.

Prognostic impact of sleep duration and sleep efficiency on mortality in patients with chronic heart failure.

Background: Both short and long self-reported sleep duration (SDSR) has been linked to increased mortality. Our analysis tested the hypothesis that long SDSR is paralleled by impaired objective sleep efficiency (SEPSG) measured by polysomnography (PSG) and that impaired SEPSG is a risk factor for death in patients with chronic heart failure (CHF).

Methods: SDSR and SEPSG were assessed by standardized questionnaire and PSG in 188 consecutive CHF patients (age range, 63±10 year; left ventricular ejection fraction, 34±10%) admitted to the Sleep Center of the University Hospital Regensburg between 1/2002 and 12/2009.

Expression pattern in human macrophages dependent on 9p21.3 coronary artery disease risk locus.

Objective: Genome-wide association studies identified a risk haplotype on chromosome 9p21.3 to be associated with coronary artery disease (CAD) and myocardial infarction (MI). Since this region does not contain a clear candidate gene with known pathophysiology, we performed a haplotype-specific expression study in human macrophages during pro-inflammatory stimulation to investigate the locus-dependent expression patterns in a model of atherosclerosis, the underlying cause for CAD and MI.

A meta-analysis of genome-wide association studies of the electrocardiographic early repolarization pattern.

Background: The early repolarization pattern (ERP) is common and associated with risk of sudden cardiac death. ERP is heritable, and mutations have been described in syndromatic cases.

Objective: To conduct a meta-analysis of genome-wide association studies to identify common genetic variants influencing ERP.