Correlación genotipo-fenotipo en miocardiopatía hipertrófica: un estudio multicéntrico en Portugal y España sobre la variante p.Arg21Leu de TPM1

Introduction and objectivesTPM1 is one of the main hypertrophic cardiomyopathy (HCM) genes. Clinical information on carriers is relatively scarce, limiting the interpretation of genetic findings in individual patients. Our aim was to establish genotype-phenotype correlations of the TPM1 p.Arg21Leu variant in a serie of pedigrees.MethodsTPM1 was evaluated by next-generation sequencing in 10 561 unrelated probands with inherited heart diseases. Familial genetic screening was performed by the Sanger method. We analyzed TPM1 p.Arg21Leu pedigrees for cosegregation, clinical characteristics, and outcomes. We also estimated the geographical distribution of the carrier families in Portugal and Spain.ResultsThe TPM1 p.Arg21Leu variant was identified in 25/4099 (0.61%) HCM-cases, and was absent in 6462 control individuals with other inherited cardiac phenotypes (P < .0001). In total, 83 carriers (31 probands) were identified. The combined LOD score for familial cosegregation was 3.95. The cumulative probability of diagnosis in carriers was 50% at the age of 50 years for males, and was 25% in female carriers. At the age of 70 years, 17% of males and 46% of female carriers were unaffected. Mean maximal left ventricular wall thickness was 21.4 ± 7.65 mm. Calculated HCM sudden death risk was low in 34 carriers (77.5%), intermediated in 8 (18%), and high in only 2 (4.5%). Survival free of cardiovascular death or heart transplant was 87.5% at 50 years. Six percent of carriers were homozygous and 18% had an additional variant. Family origin was concentrated in Galicia, Extremadura, and northern Portugal, suggesting a founder effect.ConclusionsTPM1 p.Arg21Leu is a pathogenic HCM variant associated with late-onset/incomplete penetrance and a generally favorable prognosis.     

Impacto de la puntuación de calcio en la concordancia entre la tomografía computarizada con multidetectores y la coronariografía invasiva

Introduction and objectives

Multidetector computed tomography (MDCT) has been demonstrated as a feasible alternative to invasive coronary angiography (ICA). However, contradictory results have been reported regarding the effect of coronary artery calcium score (CS) on the diagnostic accuracy of MDCT. Our aim was to assess the agreement of MDCT and ICA and to evaluate the influence of CS on this agreement.

La consulta telemática para el cardiólogo clínico en tiempos de la COVID-19: presente y futuro. Documento de consenso de la Sociedad Española de Cardiología

The coronavirus disease 2019 (COVID-19) pandemic has changed how we view our consultations. To reduce the risk of spread in the most vulnerable patients (those with heart disease) and health personnel, most face-to-face consultations have been replaced by telemedicine consultations. Although this change has been rapidly introduced, it will most likely become a permanent feature of clinical practice. Nevertheless, there remain serious doubts about organizational and legal issues, as well as the possibilities for improvement etc. In this consensus document of the Spanish Society of Cardiology, we attempt to provide some keys to improve the quality of care in this new way of working, reviewing the most frequent heart diseases attended in the cardiology outpatient clinic and proposing some minimal conditions for this health care process. These heart diseases are ischemic heart disease, heart failure, and arrhythmias. In these 3 scenarios, we attempt to clarify the basic issues that must be checked during the telephone interview, describe the patients who should attend in person, and identify the criteria to refer patients for follow-up in primary care. This document also describes some improvements that can be introduced in telemedicine consultations to improve patient care.     

Estudio RITHMI,capacidad diagnóstica de un monitor de ritmo cardiaco para la detección automática de fibrilación auricular

Introduction and objectivesEarly detection of atrial fibrillation (AF) is a priority to reduce embolic events by initiating oral anticoagulation therapy. The aim of this study was to evaluate the diagnostic ability of a wrist device designed for automatic AF detection.MethodsRITHMI is a prospective, comparative, observational study that included 167 patients referred to a cardiology outpatient clinic for a general consultation or for electrical cardioversion. The study evaluated the ability of a wrist monitor that uses a photoplethysmography (PPG) signal and an electrocardiographic lead to automatically detect AF compared with diagnosis established by 2 cardiologists using the 12-lead electrocardiogram.ResultsThe AF detection algorithm based on the PPG signal had a sensitivity of 91% and a specificity of 96% (diagnostic accuracy: 93%). The automatic algorithm based on the electrocardiographic signal had a sensitivity of 94% and a specificity of 96% (diagnostic accuracy: 95%). The 2 algorithms concurred in the diagnosis in 96% of the cases. Overall, the monitor had a sensitivity and specificity of 95% (diagnostic accuracy: 95% and Kappa index: 0.98).ConclusionsThis study shows that automatic AF detection through the use of a heart rhythm monitor incorporating sensors and algorithms that analyze the PPG signal and the electrocardiographic signal corresponding to lead I is feasible and has high diagnostic accuracy.Full English text available from:www.revespcardiol.org/en     

Caracterización electrocardiográfica en una población de jóvenes estudiantes

Introduction and objectivesThe resting 12-lead electrocardiogram (ECG) has been used in the evaluation of young asymptomatic individuals to detect pre-existing heart disease, but systematic ECG use is controversial and there are no data on this population in our environment. We aimed to determine the prevalence and spectrum of electrocardiographic findings in a population of secondary school students.MethodsWe conducted an observational, cross-sectional study of resting ECG findings in all 13 to 14-year-old secondary school students in a region of the province of Gerona between 2009 and 2017. ECG findings were classified into 3 groups according to the modified criteria of Corrado et al.: normal ECG findings, ECG findings suggestive of adaptive changes, and pathologic findings. Students with pathologic ECG findings were referred to a tertiary hospital, and complementary tests were performed according to a pre-established protocol.ResultsA total of 1911 ECGs were obtained, with a participation rate of 79% of all high school students. In all, 1321 students (69%) had a normal ECG, 554 (29%) showed ECG findings suggestive of adaptive changes, and 36 (2%) had pathologic ECG findings. Among the group with pathologic findings, 5 (14%) had cardiovascular disease. The prevalence of heart disease in this group of asymptomatic secondary school students was 0.3%.ConclusionsOne third of the students had ECG findings that were mostly suggestive of physiological adaptation. One seventh of the students with pathologic ECG findings had pre-existing heart disease, although the overall prevalence of pre-existing heart disease was low.     

Validación de escalas multiparamétricas de predicción de riesgo de muerte súbita en pacientes con síndrome de Brugada y estudio electrofisiológico

Introduction and objectivesMultiparametric scores have been designed for better risk stratification in Brugada syndrome (BrS). We aimed to validate 3 multiparametric approaches (the Delise score, Sieira score and the Shanghai BrS Score) in a cohort with Brugada syndrome and electrophysiological study (EPS).MethodsWe included patients diagnosed with BrS and previous EPS between 1998 and 2019 in 23 hospitals. C-statistic analysis and Cox proportional hazard regression models were used.ResultsA total of 831 patients were included (mean age, 42.8 ± 13.1; 623 [75%] men; 386 [46.5%] had a type 1 electrocardiogram (ECG) pattern, 677 [81.5%] were asymptomatic, and 319 [38.4%] had an implantable cardioverter-defibrillator). During a follow-up of 10.2 ± 4.7 years, 47 (5.7%) experienced a cardiovascular event. In the global cohort, a type 1 ECG and syncope were predictive of arrhythmic events. All risk scores were significantly associated with events. The discriminatory abilities of the 3 scores were modest (particularly when these scores were evaluated in asymptomatic patients). Evaluation of the Delise and Sieira scores with different numbers of extra stimuli (1 or 2 vs 3) did not substantially improve the event prediction c-index.ConclusionsIn BrS, classic risk factors such as ECG pattern and previous syncope predict arrhythmic events. The predictive capabilities of the EPS are affected by the number of extra stimuli required to induce ventricular arrhythmias. Scores combining clinical risk factors with EPS help to identify the populations at highest risk, although their predictive abilities remain modest in the general BrS population and in asymptomatic patients.     

Angina e isquemia a los 2 años con armazón vascular bioabsorbible y stents farmacoactivos metálicos. Estudio ESTROFA Isquemia AVB-SFAm

Introduction and objectives

Bioresorbable vascular scaffolds (BVS) have the potential to restore vasomotion but the clinical implications are unknown. We sought to evaluate angina and ischemia in the long-term in patients treated with BVS and metallic drug-eluting stents (mDES).

Ivabradina para el control crónico de la frecuencia cardiaca en fibrilación auricular permanente. Diseño del proyecto BRAKE-AF

Introduction and objectivesIvabradine is an inhibitor of the If channel, the main determinant of the pacemaker function of the sinus node. The drug has been approved for the treatment of angina and heart failure. There is some evidence of its role as an inhibitor of atrial-ventricular node (AVN) conduction. The aim of the BRAKE-AF project is to assess ivabradine use for rate control in atrial fibrillation (AF).MethodsA multicenter, randomized, parallel, open-label, noninferiority phase III clinical trial will be conducted to compare ivabradine vs digoxin in 232 patients with uncontrolled permanent AF despite beta-blockers or calcium channel blockers. The primary efficacy endpoint is the reduction in daytime heart rate measured by 24-hour Holter monitoring at 3 months. This clinical trial will be supported by an electrophysiological study of the effect of ivabradine on the action potential of the human AVN. To do this, an experimental model will be used with Chinese hamster ovarium cells transfected with the DNA encoding the expression of the t channels involved in this action potential and recording of the ionic currents with patch clamp techniques.ResultsNew data will be obtained on the effect of ivabradine on the human AVN and its safety and efficacy in patients with permanent AF.ConclusionsThe results of the BRAKE-AF project might allow inclusion of ivabradine within the limited arsenal of drugs currently available for rate control in AF.Clinical trial registration: http://www.clinicaltrials.gov. Identifier: NCT03718273.