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1.
Clin Genet ; 106(5): 585-602, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-39073097

RESUMEN

The aim of this study was to explore the prevalence of likely pathogenic or pathogenic variants and assess the diagnostic yield from genetic testing for cardiac arrhythmias in Norway since 2003. Data from 1991 probands and 2782 relatives were retrospectively collected from the laboratory information management system at Unit for Cardiac and Cardiovascular Genetics, Oslo University hospital. Of 1991 probands, 57.4% were females, age at genetic testing was 33.1 (±22.7) years, and 32.5% were under the age of 18. A likely pathogenic or pathogenic variant (including 14 novel) was detected in 15.4% in total. Of the 2782 relatives, 53.7% were females, age at genetic testing was 35.6 (±22.5) years, 27.3% were under the age of 18, and 45.3% carried the family variant. Probands and relatives combined, 1/3356 persons in the Norwegian population were heterozygous for an arrhythmia-causing variant. The founder variant p.Q530X (NM_000218.2: c.1588C>T) in KCNQ1 accounted for 34% of all variants in Norway. In conclusion, genetic testing provided a genetic basis of the arrhythmia in 15.4% of the probands. Familial cascade screening identified four times as many variant-positive relatives, allowing early detection and prompt stratification of arrhythmic risk of those variant carriers.


Asunto(s)
Arritmias Cardíacas , Pruebas Genéticas , Humanos , Noruega/epidemiología , Femenino , Masculino , Arritmias Cardíacas/genética , Arritmias Cardíacas/epidemiología , Arritmias Cardíacas/diagnóstico , Adulto , Adolescente , Persona de Mediana Edad , Adulto Joven , Niño , Predisposición Genética a la Enfermedad , Estudios Retrospectivos , Canal de Potasio KCNQ1/genética , Familia , Anciano , Mutación/genética , Preescolar , Linaje
2.
Scand Cardiovasc J ; 58(1): 2418089, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-39441621

RESUMEN

The risk of sudden cardiac death (SCD) is increased during endurance competitive sports. Coronary artery disease (CAD) is the most common cause of SCD in master athletes ≥ 35 years old (MAs). To reduce the risk of SCD self-assessment of symptoms by questionnaire, and evaluation of cardiovascular risk-score, are recommended as pre-participation cardiovascular evaluation (PCVE). We aimed to examine whether PCVE predicts CVD in MAs with or without increased risk as measured by validated score instruments.We performed a single-site observational cohort study of healthy MAs based on findings at PCVE. They were allocated in two different groups: those MAs with reported symptoms on the questionnaire and/or with elevated cardiovascular risk score were allocated to a symptom group (SG), while MAs with no symptoms, nor raised risk score were defined as control group (CG). Thereafter, all were examined with extended examinations: resting-ECG, cardiorespiratory exercise testing and echocardiography.Total, 81 (18 women) MAs participated in the study. There were no differences at baseline between SG (n = 39) and CG (n = 42); sex (p = 0.11), age (55.0 ± 9.8 vs. 51.9 ± 11.1 years; p = 0.18), maximal oxygen uptake (49.8 ± 7.6 vs. 51.6 ± 7.0 ml/kg/min; p = 0.26), resting heart rate (61.4 ± 12.8 vs. 60.2 ± 11.0/min; p = 0.66), training hours/week (7.0 ± 3.2 vs. 7.1 ± 3.1; p = 0.88). After further examination, sixteen (20%) MAs were found with CVD: 12 in SG, 4 in CG (p = 0.024). The negative predictive value and specificity of the PCVE were 90% and 58%, respectively.Negative findings on PCVE by questionnaire and cardiovascular risk-score may be a strategy to exclude subjects from preparticipation screening, thus saving resources.


Asunto(s)
Atletas , Muerte Súbita Cardíaca , Factores de Riesgo de Enfermedad Cardiaca , Valor Predictivo de las Pruebas , Autoinforme , Humanos , Masculino , Femenino , Persona de Mediana Edad , Medición de Riesgo , Muerte Súbita Cardíaca/prevención & control , Muerte Súbita Cardíaca/etiología , Adulto , Prueba de Esfuerzo , Electrocardiografía , Enfermedades Cardiovasculares/diagnóstico , Enfermedades Cardiovasculares/fisiopatología , Anciano , Ecocardiografía , Factores de Riesgo , Pronóstico
3.
Europace ; 25(8)2023 08 25.
Artículo en Inglés | MEDLINE | ID: mdl-37622576

RESUMEN

Sudden cardiac death (SCD) is responsible for several millions of deaths every year and remains a major health problem. To reduce this burden, diagnosing and identification of high-risk individuals and disease-specific risk stratification are essential. Treatment strategies include treatment of the underlying disease with lifestyle advice and drugs and decisions to implant a primary prevention implantable cardioverter-defibrillator (ICD) and perform ablation of the ventricles and novel treatment modalities such as left cardiac sympathetic denervation in rare specific primary electric diseases such as long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. This review summarizes the current knowledge on SCD risk according to underlying heart disease and discusses the future of SCD prevention.


Asunto(s)
Desfibriladores Implantables , Cardiopatías , Síndrome de QT Prolongado , Humanos , Muerte Súbita Cardíaca/etiología , Muerte Súbita Cardíaca/prevención & control , Síndrome de QT Prolongado/complicaciones , Síndrome de QT Prolongado/diagnóstico , Síndrome de QT Prolongado/terapia , Medición de Riesgo
4.
Eur Heart J ; 43(45): 4694-4703, 2022 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-36036653

RESUMEN

AIMS: This study aimed to explore the incidence of severe cardiac events in paediatric arrhythmogenic right ventricular cardiomyopathy (ARVC) patients and ARVC penetrance in paediatric relatives. Furthermore, the phenotype in childhood-onset ARVC was described. METHODS: Consecutive ARVC paediatric patients and genotype positive relatives ≤18 years of age were followed with electrocardiographic, structural, and arrhythmic characteristics according to the 2010 revised Task Force Criteria. Penetrance of ARVC disease was defined as fulfilling definite ARVC criteria and severe cardiac events were defined as cardiac death, heart transplantation (HTx) or severe ventricular arrhythmias. Childhood-onset disease was defined as meeting definite ARVC criteria ≤12 years of age. RESULTS: Among 62 individuals [age 9.8 (5.0-14.0) years, 11 probands], 20 (32%) fulfilled definite ARVC diagnosis, of which 8 (40%) had childhood-onset disease. The incidence of severe cardiac events was 23% (n = 14) by last follow-up and half of them occurred in patients ≤12 years of age. Among the eight patients with childhood-onset disease, five had biventricular involvement needing HTx and three had severe arrhythmic events. Among the 51 relatives, 6% (n = 3) met definite ARVC criteria at time of genetic diagnosis, increasing to 18% (n = 9) at end of follow-up. CONCLUSIONS: In a paediatric ARVC cohort, there was a high incidence of severe cardiac events and half of them occurred in children ≤12 years of age. The ARVC penetrance in genotype positive paediatric relatives was 18%. These findings of a high-malignant phenotype in childhood-onset ARVC indicate a need for ARVC family screening at younger age than currently recommended.


Asunto(s)
Displasia Ventricular Derecha Arritmogénica , Humanos , Displasia Ventricular Derecha Arritmogénica/diagnóstico , Displasia Ventricular Derecha Arritmogénica/epidemiología , Displasia Ventricular Derecha Arritmogénica/genética , Factores de Riesgo , Arritmias Cardíacas/epidemiología , Electrocardiografía , Estudios de Cohortes
5.
Eur Heart J ; 43(20): 1901-1916, 2022 05 21.
Artículo en Inglés | MEDLINE | ID: mdl-35089333

RESUMEN

This document describes the contribution of clinical criteria to the interpretation of genetic variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist cardiologists in defining the clinical contribution to a genetic diagnosis and the interpretation of molecular genetic reports. The identification of a genetic variant of unknown or uncertain significance is a limitation of genetic testing, but current guidelines for the interpretation of genetic variants include essential contributions from clinical family screening that can establish a de novo assignment of the variant or its segregation with the phenotype in the family. A partnership between clinicians and patients helps to solve major uncertainties and provides reliable and clinically actionable information.


Asunto(s)
Cardiología , Cardiomiopatías , Cardiomiopatías/genética , Predisposición Genética a la Enfermedad/genética , Pruebas Genéticas , Genómica , Humanos , Fenotipo
6.
Eur Heart J ; 39(10): 853-860, 2018 03 07.
Artículo en Inglés | MEDLINE | ID: mdl-29095976

RESUMEN

Aims: Lamin A/C (LMNA) mutations cause familial dilated cardiomyopathy (DCM) with frequent conduction blocks and arrhythmias. We explored the prevalence, cardiac penetrance, and expressivity of LMNA mutations among familial DCM in Norway. Furthermore, we explored the risk factors and the outcomes in LMNA patients. Methods and results: During 2003-15, genetic testing was performed in patients referred for familial DCM. LMNA genotype-positive subjects were examined by electrocardiography, Holter monitoring, cardiac magnetic resonance imaging, and echocardiography. A positive cardiac phenotype was defined as the presence of atrioventricular (AV) block, atrial fibrillation/flutter (AF), ventricular tachycardia (VT), and/or echocardiographic DCM. Heart transplantation was recorded and compared with non-ischaemic DCM of other origin. Of 561 unrelated familial DCM probands, 35 (6.2%) had an LMNA mutation. Family screening diagnosed an additional 93 LMNA genotype-positive family members. We clinically followed up 79 LMNA genotype-positive [age 42 ± 16 years, ejection fraction (EF) 45 ± 13%], including 44 (56%) with VT. Asymptomatic LMNA genotype-positive family members (age 31 ± 15 years) had a 9% annual incidence of a newly documented cardiac phenotype and 61% (19/31) of cardiac penetrance during 4.4 ± 2.9 years of follow-up. Ten (32%) had AV block, 7 (23%) AF, and 12 (39%) non-sustained VT. Heart transplantation was performed in 15 of 79 (19%) LMNA patients during 7.8 ± 6.3 years of follow-up. Conclusion: LMNA mutation prevalence was 6.2% of familial DCM in Norway. Cardiac penetrance was high in young asymptomatic LMNA genotype-positive family members with frequent AV block and VT, highlighting the importance of early family screening and cardiological follow-up. Nearly 20% of the LMNA patients required heart transplantation.


Asunto(s)
Cardiomiopatía Dilatada , Trasplante de Corazón/estadística & datos numéricos , Adolescente , Adulto , Femenino , Estudios de Seguimiento , Humanos , Lamina Tipo A/genética , Masculino , Persona de Mediana Edad , Mutación , Prevalencia , Adulto Joven
8.
Europace ; 20(2): 386-391, 2018 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-29300970

RESUMEN

The purpose of this patient survey was to analyse the knowledge, experiences, and attitudes regarding cardiac implantable electronic devices (CIED) in patients with pacemakers, implantable cardioverter-defibrillators (ICDs), or cardiac resynchronization devices. Of the 1644 patients with CIEDs from seven European countries, 88% were over 50 years of age. Most patients (90%) knew what device they were implanted with and felt sufficiently informed about the indications for therapy. As many as 42% of patients needed additional information on the battery replacement and limitations in physical activity. The self-reported incidence of complications was 9%, and among these, a quarter of the respondents felt insufficiently informed about the possibility of complications and their management. The majority of patients (83%) were followed by face-to-face visits, which was the most commonly preferred follow-up strategy by the patients. Nearly 75% of the patients reported improved quality of life after device implantation, but about 40% had worries about their device. Less than 20% had discussed with their physician or thought about device handling in the end-of-life circumstances or end-stage disease. Notably, almost 20% of the ICD patients did not wish to answer the question regarding what they wanted to be done with their ICD in case of end-stage disease, indicating the challenges in approaching these issues.


Asunto(s)
Desfibriladores Implantables , Conocimientos, Actitudes y Práctica en Salud , Cardiopatías/terapia , Marcapaso Artificial , Pacientes/psicología , Adaptación Psicológica , Anciano , Dispositivos de Terapia de Resincronización Cardíaca , Costo de Enfermedad , Europa (Continente) , Femenino , Encuestas de Atención de la Salud , Cardiopatías/fisiopatología , Cardiopatías/psicología , Humanos , Masculino , Persona de Mediana Edad , Educación del Paciente como Asunto , Prioridad del Paciente , Estudios Prospectivos , Falla de Prótesis , Calidad de Vida
10.
J Cardiovasc Magn Reson ; 18(1): 73, 2016 Oct 14.
Artículo en Inglés | MEDLINE | ID: mdl-27756409

RESUMEN

BACKGROUND: Altered right ventricular structure is an important feature of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), but is challenging to quantify objectively. The aim of this study was to go beyond ventricular volumes and diameters and to explore if the shape of the right and left ventricles could be assessed and related to clinical measures. We used quantifiable computational methods to automatically identify and analyse malformations in ARVC patients from Cardiovascular Magnetic Resonance (CMR) images. Furthermore, we investigated how automatically extracted structural features were related to arrhythmic events. METHODS: A retrospective cross-sectional feasibility study was performed on CMR short axis cine images of 27 ARVC patients and 21 ageing asymptomatic control subjects. All images were segmented at the end-diastolic (ED) and end-systolic (ES) phases of the cardiac cycle to create three-dimensional (3D) bi-ventricle shape models for each subject. The most common components to single- and bi-ventricular shape in the ARVC population were identified and compared to those obtained from the control group. The correlations were calculated between identified ARVC shapes and parameters from the 2010 Task Force Criteria, in addition to clinical outcomes such as ventricular arrhythmias. RESULTS: Bi-ventricle shape for the ARVC population showed, as ordered by prevalence with the percent of total variance in the population explained by each shape: global dilation/shrinking of both ventricles (44 %), elongation/shortening at the right ventricle (RV) outflow tract (15 %), tilting at the septum (10 %), shortening/lengthening of both ventricles (7 %), and bulging/shortening at both the RV inflow and outflow (5 %). Bi-ventricle shapes were significantly correlated to several clinical diagnostic parameters and outcomes, including (but not limited to) correlations between global dilation and electrocardiography (ECG) major criteria (p = 0.002), and base-to-apex lengthening and history of arrhythmias (p = 0.003). Classification of ARVC vs. control using shape modes yielded high sensitivity (96 %) and moderate specificity (81 %). CONCLUSION: We presented for the first time an automatic method for quantifying and analysing ventricular shapes in ARVC patients from CMR images. Specific ventricular shape features were highly correlated with diagnostic indices in ARVC patients and yielded high classification sensitivity. Ventricular shape analysis may be a novel approach to classify ARVC disease, and may be used in diagnosis and in risk stratification for ventricular arrhythmias.


Asunto(s)
Displasia Ventricular Derecha Arritmogénica/diagnóstico por imagen , Ventrículos Cardíacos/diagnóstico por imagen , Imagen por Resonancia Cinemagnética , Remodelación Ventricular , Adulto , Arritmias Cardíacas/etiología , Displasia Ventricular Derecha Arritmogénica/complicaciones , Displasia Ventricular Derecha Arritmogénica/fisiopatología , Automatización , Estudios Transversales , Progresión de la Enfermedad , Estudios de Factibilidad , Femenino , Ventrículos Cardíacos/fisiopatología , Humanos , Procesamiento de Imagen Asistido por Computador , Imagenología Tridimensional , Masculino , Persona de Mediana Edad , Proyectos Piloto , Valor Predictivo de las Pruebas , Pronóstico , Estudios Retrospectivos , Adulto Joven
11.
Int J Cardiol ; 409: 132167, 2024 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-38797198

RESUMEN

AIMS: The prediction of ventricular arrhythmia (VA) in hypertrophic cardiomyopathy (HCM) remains challenging. We sought to characterize the VA risk profile in HCM patients through clustering analysis combining clinical and conventional imaging parameters with information derived from left ventricular longitudinal strain analysis (LV-LS). METHODS: A total of 434 HCM patients (65% men, mean age 56 years) were included from two referral centers and followed longitudinally (mean duration 6 years). Mechanical and temporal parameters were automatically extracted from the LV-LS segmental curves of each patient in addition to conventional clinical and imaging data. A total of 287 features were analyzed using a clustering approach (k-means). The principal endpoint was VA. RESULTS: 4 clusters were identified with a higher rhythmic risk for clusters 1 and 4 (VA rates of 26%(28/108), 13%(13/97), 12%(14/120), and 31%(34/109) for cluster 1,2,3 and 4 respectively). These 4 clusters differed mainly by LV-mechanics with a severe and homogeneous decrease of myocardial deformation for cluster 4, a small decrease for clusters 2 and 3 and a marked deformation delay and temporal dispersion for cluster 1 associated with a moderate decrease of the GLS (p < 0.0001 for GLS comparison between clusters). Patients from cluster 4 had the most severe phenotype (mean LV mass index 123 vs. 112 g/m2; p = 0.0003) with LV and left atrium (LA) remodeling (LA-volume index (LAVI) 46.6 vs. 41.5 ml/m2, p = 0.04 and LVEF 59.7 vs. 66.3%, p < 0.001) and impaired exercise capacity (% predicted peak VO2 58.6 vs. 69.5%; p = 0.025). CONCLUSION: Processing LV-LS parameters in HCM patients 4 clusters with specific LV-strain patterns and different rhythmic risk levels are identified. Automatic extraction and analysis of LV strain parameters improves the risk stratification for VA in HCM patients.


Asunto(s)
Cardiomiopatía Hipertrófica , Humanos , Masculino , Persona de Mediana Edad , Femenino , Cardiomiopatía Hipertrófica/fisiopatología , Cardiomiopatía Hipertrófica/complicaciones , Cardiomiopatía Hipertrófica/diagnóstico por imagen , Análisis por Conglomerados , Anciano , Adulto , Estudios de Seguimiento , Factores de Riesgo , Ecocardiografía/métodos , Ventrículos Cardíacos/fisiopatología , Ventrículos Cardíacos/diagnóstico por imagen , Función Ventricular Izquierda/fisiología , Arritmias Cardíacas/fisiopatología , Arritmias Cardíacas/epidemiología , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/diagnóstico por imagen , Estudios Longitudinales , Medición de Riesgo/métodos
12.
Sci Rep ; 14(1): 6581, 2024 03 19.
Artículo en Inglés | MEDLINE | ID: mdl-38503845

RESUMEN

The potential association between endurance exercise and myocardial fibrosis is controversial. Data on exercise exposure and diffuse myocardial fibrosis in endurance athletes are scarce and conflicting. We aimed to investigate the association between exercise exposure and markers of diffuse myocardial fibrosis by cardiovascular magnetic resonance imaging (CMR) in endurance athletes. We examined 27 healthy adult male competitive endurance athletes aged 41 ± 9 years and 16 healthy controls in a cross sectional study using 3 Tesla CMR including late gadolinium enhancement and T1 mapping. Athletes reported detailed exercise history from 12 years of age. Left ventricular total mass, cellular mass and extracellular mass were higher in athletes than controls (86 vs. 58 g/m2, 67 vs. 44 g/m2 and 19 vs. 13 g/m2, all p < 0.01). Extracellular volume (ECV) was lower (21.5% vs. 23.8%, p = 0.03) and native T1 time was shorter (1214 ms vs. 1268 ms, p < 0.01) in the athletes. Increasing exercise dose was independently associated with shorter native T1 time (regression coefficient - 24.1, p < 0.05), but expressed no association with ECV. Our results indicate that diffuse myocardial fibrosis has a low prevalence in healthy male endurance athletes and do not indicate an adverse dose-response relationship between exercise and diffuse myocardial fibrosis in healthy athletes.


Asunto(s)
Cardiomiopatías , Medios de Contraste , Adulto , Humanos , Masculino , Niño , Estudios Transversales , Gadolinio , Miocardio/patología , Cardiomiopatías/patología , Fibrosis , Atletas , Imagen por Resonancia Cinemagnética , Valor Predictivo de las Pruebas , Función Ventricular Izquierda , Volumen Sistólico
14.
Eur Heart J Cardiovasc Imaging ; 25(1): e1-e32, 2023 Dec 21.
Artículo en Inglés | MEDLINE | ID: mdl-37861372

RESUMEN

More than 500 000 cardiovascular implantable electronic devices (CIEDs) are implanted in the European Society of Cardiology countries each year. The role of cardiovascular imaging in patients being considered for CIED is distinctly different from imaging in CIED recipients. In the former group, imaging can help identify specific or potentially reversible causes of heart block, the underlying tissue characteristics associated with malignant arrhythmias, and the mechanical consequences of conduction delays and can also aid challenging lead placements. On the other hand, cardiovascular imaging is required in CIED recipients for standard indications and to assess the response to device implantation, to diagnose immediate and delayed complications after implantation, and to guide device optimization. The present clinical consensus statement (Part 1) from the European Association of Cardiovascular Imaging, in collaboration with the European Heart Rhythm Association, provides comprehensive, up-to-date, and evidence-based guidance to cardiologists, cardiac imagers, and pacing specialists regarding the use of imaging in patients undergoing implantation of conventional pacemakers, cardioverter defibrillators, and resynchronization therapy devices. The document summarizes the existing evidence regarding the use of imaging in patient selection and during the implantation procedure and also underlines gaps in evidence in the field. The role of imaging after CIED implantation is discussed in the second document (Part 2).


Asunto(s)
Sistema Cardiovascular , Desfibriladores Implantables , Marcapaso Artificial , Humanos , Arritmias Cardíacas/diagnóstico por imagen , Arritmias Cardíacas/terapia , Cardioversión Eléctrica , Corazón
15.
Eur Heart J Cardiovasc Imaging ; 25(1): e33-e54, 2023 Dec 21.
Artículo en Inglés | MEDLINE | ID: mdl-37861420

RESUMEN

Cardiac implantable electronic devices (CIEDs) improve quality of life and prolong survival, but there are additional considerations for cardiovascular imaging after implantation-both for standard indications and for diagnosing and guiding management of device-related complications. This clinical consensus statement (part 2) from the European Association of Cardiovascular Imaging, in collaboration with the European Heart Rhythm Association, provides comprehensive, up-to-date, and evidence-based guidance to cardiologists, cardiac imagers, and pacing specialists regarding the use of imaging in patients after implantation of conventional pacemakers, cardioverter defibrillators, and cardiac resynchronization therapy (CRT) devices. The document summarizes the existing evidence regarding the role and optimal use of various cardiac imaging modalities in patients with suspected CIED-related complications and also discusses CRT optimization, the safety of magnetic resonance imaging in CIED carriers, and describes the role of chest radiography in assessing CIED type, position, and complications. The role of imaging before and during CIED implantation is discussed in a companion document (part 1).


Asunto(s)
Terapia de Resincronización Cardíaca , Desfibriladores Implantables , Marcapaso Artificial , Humanos , Terapia de Resincronización Cardíaca/métodos , Desfibriladores Implantables/efectos adversos , Calidad de Vida , Dispositivos de Terapia de Resincronización Cardíaca , Imagen por Resonancia Magnética , Marcapaso Artificial/efectos adversos
17.
JMIR Res Protoc ; 12: e45244, 2023 03 15.
Artículo en Inglés | MEDLINE | ID: mdl-36920460

RESUMEN

BACKGROUND: Anthracycline-based chemotherapy has been mainstay of adjuvant breast cancer therapy for decades. Although effective, anthracyclines place long-term breast cancer survivors at risk of late effects, such as reduced cardiorespiratory fitness and increased risk of cardiovascular disease. Previous research has shown beneficial effects of exercise training on cardiorespiratory fitness, but the effects of exercise on limiting factors for cardiorespiratory fitness, cardiovascular risk factors, and patient-reported outcomes in long-term survivors are less clear. Whether previous exposure to breast cancer therapy modulates the effects of exercise is also unknown. OBJECTIVE: The primary aim of the CAUSE (Cardiovascular Survivors Exercise) trial is to examine the effect of aerobic exercise on cardiorespiratory fitness in anthracycline-treated long-term breast cancer survivors. Secondary aims are to examine effects of exercise training on limiting factors for cardiorespiratory fitness, cardiovascular risk factors, and patient-reported outcomes, and to compare baseline values and effects of exercise training between similar-aged women with and those without prior breast cancer. A third aim is to examine the 24-month postintervention effects of aerobic exercise on primary and secondary outcomes. METHODS: The CAUSE trial is a 2-armed randomized controlled trial, where 140 long-term breast cancer survivors, 8-12 years post diagnosis, are assigned to a 5-month nonlinear aerobic exercise program with 3 weekly sessions or to standard care. Seventy similar-aged women with no history of cancer will undergo the same exercise program. Cardiorespiratory fitness measured as peak oxygen consumption (VO2peak), limiting factors for VO2peak (eg, cardiac function, pulmonary function, hemoglobin mass, blood volume, and skeletal muscle characteristics), cardiovascular risk factors (eg, hypertension, diabetes, dyslipidemia, obesity, physical activity level, and smoking status), and patient-reported outcomes (eg, body image, fatigue, mental health, and health-related quality of life) will be assessed at baseline, post intervention, and 24 months post intervention. RESULTS: A total of 209 patients were included from October 2020 to August 2022, and postintervention assessments were completed in January 2023. The 24-month follow-up will be completed in February 2025. CONCLUSIONS: The findings from the CAUSE trial will provide novel scientific understanding of the potential benefits of exercise training in long-term breast cancer survivors. TRIAL REGISTRATION: ClinicalTrials.gov NCT04307407; https://clinicaltrials.gov/ct2/show/NCT04307407. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/45244.

18.
Heart Rhythm ; 19(9): 1433-1441, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35716856

RESUMEN

BACKGROUND: Obstructive sleep apnea (OSA) is associated with atrial fibrillation (AF). Whether treatment with continuous positive airway pressure (CPAP) reduces AF recurrence after catheter ablation with pulmonary vein isolation (PVI) is unknown. OBJECTIVE: The purpose of this study was to assess the effect of CPAP treatment on the recurrence and burden of AF after PVI in patients with OSA. METHODS: We randomized patients with paroxysmal AF and an apnea-hypopnea index (AHI) ≥15 events/hour to treatment with CPAP or standard care. Heart rhythm was monitored by an implantable loop recorder. AF recurrence after PVI was defined as any episode of AF lasting >2 minutes after a 3-month blanking period. RESULTS: PVI was performed in 83 patients. Thirty-seven patients were randomized to CPAP treatment and 46 patients to standard care. The AHI was reduced from 26.7 ± 14 events/hour to 1.7 ± 1.3 events/hour at follow-up in the CPAP group (P = .001). A total of 57% of patients in both the CPAP group and the standard care group had at least 1 episode of AF 3-12 months after PVI (P for difference = 1). AF burden after ablation was reduced in both groups, with no between-group difference (P = .69). CONCLUSION: In patients with paroxysmal AF and OSA, treatment with CPAP did not further reduce the risk of AF recurrence after ablation. PVI considerably reduced the burden of AF in OSA patients, without any difference between groups.


Asunto(s)
Fibrilación Atrial , Ablación por Catéter , Venas Pulmonares , Apnea Obstructiva del Sueño , Fibrilación Atrial/complicaciones , Fibrilación Atrial/cirugía , Presión de las Vías Aéreas Positiva Contínua , Humanos , Venas Pulmonares/cirugía , Recurrencia , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/terapia , Resultado del Tratamiento
19.
Circulation ; 122(14): 1355-63, 2010 Oct 05.
Artículo en Inglés | MEDLINE | ID: mdl-20855658

RESUMEN

BACKGROUND: Long-QT syndrome (LQTS) is characterized by prolonged myocardial action potential duration. The longest action potential duration is reported in the endomyocardium and midmyocardium. Prolonged action potential duration in LQTS may cause prolonged cardiac contraction, which can be assessed by strain echocardiography. We hypothesized that myocardial contraction is most prolonged in subendocardial myofibers in LQTS patients and that inhomogeneous transmural contraction is related to the risk of spontaneous arrhythmia. METHODS AND RESULTS: We included 101 genotyped LQTS mutation carriers and 35 healthy individuals. A history of cardiac arrhythmias was present in 48 mutations carriers, and 53 were asymptomatic. Myocardial contraction duration was assessed by strain echocardiography as time from the ECG Q wave to peak strain in 16 LV segments. Strain was assessed along the longitudinal axis, predominantly representing subendocardial fibers, and along the circumferential axis, representing midmyocardial fibers. Mean contraction duration was longer in LQTS mutation carriers compared with healthy individuals (445 ± 45 versus 390 ± 40 milliseconds; P<0.001) and longer in symptomatic compared with asymptomatic LQTS mutation carriers (460 ± 40 versus 425 ± 45 milliseconds; P<0.001). Contraction duration by longitudinal strain was longer than by circumferential strain in symptomatic LQTS patients (460 ± 45 versus 445±45 milliseconds; P=0.008) but not in asymptomatic patients and healthy individuals, indicating transmural mechanical dispersion. This time difference was present in a majority of LV segments and was most evident in patients with LQT2 and the Jervell and Lange-Nielsen syndrome. CONCLUSION: Contraction duration in symptomatic LQTS mutation carriers was longer in the subendocardium than in the midmyocardium, indicating transmural mechanical dispersion, which was not present in asymptomatic and healthy individuals.


Asunto(s)
Canales Iónicos/fisiología , Síndrome de QT Prolongado/fisiopatología , Contracción Miocárdica/fisiología , Potenciales de Acción , Arritmias Cardíacas/etiología , Arritmias Cardíacas/fisiopatología , Portador Sano , Ecocardiografía , Electrocardiografía , Genotipo , Corazón/fisiopatología , Homocigoto , Humanos , Síndrome de QT Prolongado/diagnóstico por imagen , Síndrome de QT Prolongado/genética , Valores de Referencia , Estrés Mecánico , Función Ventricular Izquierda/fisiología
20.
Cardiology ; 118(2): 129-37, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21555886

RESUMEN

A major challenge in current cardiology is to predict who will die suddenly from ventricular arrhythmias. Ventricular arrhythmias are the most common cause of sudden cardiac death, occurring in about 1-2:1,000 inhabitants yearly, and is most frequently due to coronary artery disease. Patients with increased risk of ventricular arrhythmias can be offered medical treatment and ultimately an implantable cardioverter defibrillator (ICD). Left ventricular ejection fraction (EF) is currently the main risk stratification tool used to select patients for ICD therapy. However, EF is insufficient in predicting arrhythmic risk. A number of techniques have been presented to improve arrhythmic risk stratification without having reached clinical utility. Conduction abnormalities and dispersion of action potential duration forms the substrate for malignant ventricular arrhythmias in infarcted tissue as in several cardiomyopathies. The ability to assess electrical dispersion in patients noninvasively has been limited. Myocardial strain by echocardiography has been presented as an accurate tool for assessing myocardial function and timing. Inhomogeneous and dispersed myocardial contraction has been related to the occurrence of ventricular arrhythmias and seems to be a promising tool in risk stratification. This review focuses on arrhythmia mechanisms and novel echocardiographic tools for assessing risk of ventricular arrhythmias.


Asunto(s)
Arritmias Cardíacas , Ventrículos Cardíacos , Antagonistas Adrenérgicos beta/uso terapéutico , Arritmias Cardíacas/diagnóstico por imagen , Arritmias Cardíacas/fisiopatología , Arritmias Cardíacas/terapia , Muerte Súbita Cardíaca , Desfibriladores Implantables , Ecocardiografía , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/fisiopatología , Humanos , Síndrome de QT Prolongado/tratamiento farmacológico , Síndrome de QT Prolongado/genética , Factores de Riesgo
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