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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.
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INTRODUCTION: Oslo University Hospital is a tertiary center conducting a significant number of transcatheter aortic valve implantation (TAVI) procedures per year. In this follow-up MediPace study, we aimed to investigate early echocardiographic changes in systolic and diastolic functions after TAVI in these patients. METHODS: All patients enrolled in the previous study were contacted 3 months after TAVI for echocardiographic evaluation. Detailed echocardiography was performed 3.5 ± 1.6 months after TAVI, and compared with baseline evaluations. RESULTS: A total of 101 patients were analyzed. Mean age was 80.1 ± 6.8 years and 40% of the patients were female. We observed a significant improvement in global longitudinal strain (GLS) (pre-TAVI -16.8 ± 4.1%, post-TAVI -17.8 ± 3.6%, p < .001), with no notable change in LVEF. More than half of the patients (52%) experienced a significant reverse remodeling with ≥10% decrease in left ventricular mass index (LVMi) following TAVI (pre-TAVI 123.6 ± 32.1 vs. 109.7 ± 28.9 g/m2 post-TAVI, p < .001). Pre-TAVI LVMi was a positive predictor, whereas history of HT was a negative predictor of LVMi reduction. There was no significant improvement in diastolic function following TAVI. Highest degree of paravalvular leakage was mild to moderate and was observed in only 2%. CONCLUSIONS: A significant improvement in GLS and LVMi was found following TAVI. History of hypertension and baseline LVMi were predictors of LVMi change. There was no notable change in diastolic function, including left atrial strain.
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Estenosis de la Válvula Aórtica , Ecocardiografía , Reemplazo de la Válvula Aórtica Transcatéter , Remodelación Ventricular , Humanos , Femenino , Reemplazo de la Válvula Aórtica Transcatéter/métodos , Masculino , Anciano de 80 o más Años , Ecocardiografía/métodos , Estenosis de la Válvula Aórtica/cirugía , Estenosis de la Válvula Aórtica/fisiopatología , Remodelación Ventricular/fisiología , Estudios de Seguimiento , Resultado del Tratamiento , Válvula Aórtica/cirugía , Válvula Aórtica/diagnóstico por imagenRESUMEN
BACKGROUND AND AIMS: Arrhythmic mitral valve prolapse (AMVP) is linked to life-threatening ventricular arrhythmias (VAs), and young women are considered at high risk. Cases of AMVP in women with malignant VA during pregnancy have emerged, but the arrhythmic risk during pregnancy is unknown. The authors aimed to describe features of women with high-risk AMVP who developed malignant VA during the perinatal period and to assess if pregnancy and the postpartum period were associated with a higher risk of malignant VA. METHODS: This retrospective international multi-centre case series included high-risk women with AMVP who experienced malignant VA and at least one pregnancy. Malignant VA included ventricular fibrillation, sustained ventricular tachycardia, or appropriate shock from an implantable cardioverter defibrillator. The authors compared the incidence of malignant VA in non-pregnant periods and perinatal period; the latter defined as occurring during pregnancy and within 6 months after delivery. RESULTS: The authors included 18 women with AMVP from 11 centres. During 7.5 (interquartile range 5.8-16.6) years of follow-up, 37 malignant VAs occurred, of which 18 were pregnancy related occurring in 13 (72%) unique patients. Pregnancy and 6 months after delivery showed increased incidence rate of malignant VA compared to the non-pregnancy period (univariate incidence rate ratio 2.66, 95% confidence interval 1.23-5.76). CONCLUSIONS: The perinatal period could impose increased risk of malignant VA in women with high-risk AMVP. The data may provide general guidance for pre-conception counselling and for nuanced shared decision-making between patients and clinicians.
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Prolapso de la Válvula Mitral , Complicaciones Cardiovasculares del Embarazo , Humanos , Femenino , Embarazo , Prolapso de la Válvula Mitral/complicaciones , Prolapso de la Válvula Mitral/epidemiología , Estudios Retrospectivos , Adulto , Complicaciones Cardiovasculares del Embarazo/epidemiología , Factores de Riesgo , Arritmias Cardíacas/epidemiología , Arritmias Cardíacas/etiología , Taquicardia Ventricular/epidemiología , Taquicardia Ventricular/etiología , Trastornos Puerperales/epidemiología , Trastornos Puerperales/etiología , Desfibriladores Implantables , Incidencia , Fibrilación Ventricular/epidemiología , Fibrilación Ventricular/etiología , Periodo PospartoRESUMEN
Imaging using cardiac computed tomography (CT) or magnetic resonance (MR) imaging has become an important option for anatomic and substrate delineation in complex atrial fibrillation (AF) and ventricular tachycardia (VT) ablation procedures. Computed tomography more common than MR has been used to detect procedure-associated complications such as oesophageal, cerebral, and vascular injury. This clinical consensus statement summarizes the current knowledge of CT and MR to facilitate electrophysiological procedures, the current value of real-time integration of imaging-derived anatomy, and substrate information during the procedure and the current role of CT and MR in diagnosing relevant procedure-related complications. Practical advice on potential advantages of one imaging modality over the other is discussed for patients with implanted cardiac rhythm devices as well as for planning, intraprocedural integration, and post-interventional management in AF and VT ablation patients. Establishing a team of electrophysiologists and cardiac imaging specialists working on specific details of imaging for complex ablation procedures is key. Cardiac magnetic resonance (CMR) can safely be performed in most patients with implanted active cardiac devices. Standard procedures for pre- and post-scanning management of the device and potential CMR-associated device malfunctions need to be in place. In VT patients, imaging-specifically MR-may help to determine scar location and mural distribution in patients with ischaemic and non-ischaemic cardiomyopathy beyond evaluating the underlying structural heart disease. Future directions in imaging may include the ability to register multiple imaging modalities and novel high-resolution modalities, but also refinements of imaging-guided ablation strategies are expected.
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Consenso , Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos X , Humanos , Ablación por Catéter , Técnicas Electrofisiológicas Cardíacas , Taquicardia Ventricular/cirugía , Taquicardia Ventricular/diagnóstico por imagen , Fibrilación Atrial/cirugía , Fibrilación Atrial/diagnóstico por imagen , Fibrilación Atrial/fisiopatología , Valor Predictivo de las Pruebas , Europa (Continente) , Resultado del TratamientoRESUMEN
Mitral annular disjunction (MAD), a separation between the left atrium/mitral valve annulus and the left ventricular myocardium, is frequently seen in patients with arrhythmic mitral valve prolapse. Although an association exists between MAD and ventricular arrhythmias, little is known regarding the identification of individuals at high risk. Multimodality imaging including echocardiography, computed tomography, cardiac magnetic resonance, and positron emission tomography can play an important role in both the diagnosis and risk stratification of MAD. Due to a paucity of data, clinical decision making in a patient with MAD is challenging and remains largely empirical. Although MAD itself can be corrected surgically, the prevention and treatment of associated arrhythmias may require medical therapy, catheter ablation, and an implantable cardioverter-defibrillator. Prospective data are required to define the role of implantable cardioverter-defibrillators, targeted catheter ablation, and surgical correction in selected, at-risk patients.
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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.
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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/métodosRESUMEN
BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) may cause sudden cardiac death (SCD) despite medical therapy. Therefore, implantable cardioverter-defibrillators (ICDs) are commonly advised. However, there is limited data on the outcomes of ICD use in children. OBJECTIVE: The purpose of this study was to compare the risk of arrhythmic events in pediatric patients with CPVT with and without an ICD. METHODS: We compared the risk of SCD in patients with RYR2 (ryanodine receptor 2) variants and phenotype-positive symptomatic CPVT patients with and without an ICD who were younger than 19 years and had no history of sudden cardiac arrest at phenotype diagnosis. The primary outcome was SCD; secondary outcomes were composite end points of SCD, sudden cardiac arrest, or appropriate ICD shocks with or without arrhythmic syncope. RESULTS: The study included 235 patients, 73 with an ICD (31.1%) and 162 without an ICD (68.9%). Over a median follow-up of 8.0 years (interquartile range 4.3-13.4 years), SCD occurred in 7 patients (3.0%), of whom 4 (57.1%) were noncompliant with medications and none had an ICD. Patients with ICD had a higher risk of both secondary composite outcomes (without syncope: hazard ratio 5.85; 95% confidence interval 3.40-10.09; P < .0001; with syncope: hazard ratio 2.55; 95% confidence interval 1.50-4.34; P = .0005). Thirty-one patients with ICD (42.5%) experienced appropriate shocks, 18 (24.7%) inappropriate shocks, and 21 (28.8%) device-related complications. CONCLUSION: SCD events occurred only in patients without an ICD and mostly in those not on optimal medical therapy. Patients with an ICD had a high risk of appropriate and inappropriate shocks, which may be reduced with appropriate device programming. Severe ICD complications were common, and risks vs benefits of ICDs need to be considered.
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AIM: In the current paper, we aim to explore the effect of both current and former long-term anabolic-androgenic steroid (AAS) use on regulation of systemic inflammatory markers and mediators of extracellular matrix (ECM) remodeling and their association with hormones and echocardiographic myocardial pathology in weightlifters. METHODS: In a cross-sectional study, 93 weightlifting AAS-users, of which 62 were current and 31 were past users, with at least one-year cumulative AAS-use (mean 11±7 accumulated years of AAS-use), were compared to 54 non-using weightlifting controls (WLC) using clinical interview, blood pressure measurements, and echocardiography. RESULTS: Serum levels of interleukin (IL)-6, IL-8, tumor necrosis factor (TNF), interferon (IFN)γ, growth differentiation factor (GDF)-15 and matrix metalloproteinase (MMP-9), sex hormones and lipids were analyzed. Serum levels of IL-8, GDF-15 and MMP-9 were significantly increased in current AAS users compared to former users and WLC. MMP-9, but not IL-8, correlated consistently with sex-hormone levels, and sex-hormone levels correlated consistently with mean wall thickness, in current users. Moreover, HDL cholesterol was significantly lower in current versus former AAS users, in significantly inversely correlated with MMP-9 in current users. Further, in current users, MMP-9 and IL-8 correlated with markers of myocardial strain, and MMP9 also with indices of cardiac mass, which was not seen in former users. Mediation analyses suggested that MMP-9 could partly explain hormone-induced alterations in markers of myocardial damage in current users. CONCLUSION: In conclusion, long-term AAS is associated with increased levels of markers of inflammation and extracellular matrix remodeling, which seems to have a hormone-dependent (MMP-9) and hormone-independent (IL-8) association with markers of myocardial dysfunction.
Long-term use of anabolic-androgenic steroids (AAS) can increase inflammation and mediators of extracellular matrix (ECM) remodeling which potentially could be involved in myocardial pathology seen in these individuals. AAS use increased levels of inflammatory marker IL-8 and marker of ECM remodeling MMP-9.IL-8 and MMP-9 were both associated with myocardial pathology in current, but not former users, suggesting that these markers are association with risk of myocardial damage during AAS use.
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BACKGROUND: Hodgkin's lymphoma (HL) is a hematological malignancy that affects both children and young adults. Traditional treatment is associated with a life-time prevalence of cardiac disease exceeding 50%. In the late 1990s protocols were modified to reduce cancer therapy-related adverse cardiac effects. This study aimed to assess the long-term impact of advances in treatment protocols on the cardiac health of HL survivors (HLS). METHODS: HLS (n = 246) treated between 1997 and 2007 with anthracycline-based chemotherapy in three centers in Norway were included. Of these, 132 (53%) had also received mediastinal radiotherapy. HLS were compared to controls (n = 58) recruited from the general population and matched for sex, age, smoking status, and heredity for coronary artery disease. All subjects underwent echocardiography, clinical assessment, and blood sampling. RESULTS: The HLS were 46 ± 9 years old and had been treated 17 ± 3 years before inclusion in the study. There was no significant difference between HLS and controls in ejection fraction (EF) (58%±5 vs. 59%±4, p = 0.08) or prevalence of heart failure. HLS treated with both anthracyclines and mediastinal radiotherapy (AC + MRT) had slightly worse left ventricular global longitudinal strain than controls (-19.3 ± 2.5% vs. -20.8 ± 2.0%, p < 0.001), but those treated with only anthracyclines did not. HLS treated with AC + MRT had a higher prevalence of valve disease than those treated only with anthracyclines (12% vs. 4%, p < 0.05). CONCLUSIONS: HLS treated with anthracyclines after the late 1990s have similar cardiac function and morphology as age-matched controls, apart from higher rates of valvular disease in those who also underwent mediastinal radiotherapy.
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Valvular heart disease is common and its prevalence is rapidly increasing worldwide. Effective medical therapies are insufficient and treatment was historically limited to the surgical techniques of valve repair or replacement, resulting in systematic underprovision of care to older patients and those with substantial comorbidities, frailty, or left ventricular dysfunction. Advances in imaging and surgical techniques over the past 20 years have transformed the management of valvular heart disease. Better understanding of the mechanisms and causes of disease and an increasingly extensive and robust evidence base provide a platform for the delivery of individualised treatment by multidisciplinary heart teams working within networks of diagnostic facilities and specialist heart valve centres. In this Series paper, we aim to provide an overview of the current and future management of valvular heart disease and propose treatment approaches based on an understanding of the underlying pathophysiology and the application of multidisciplinary treatment strategies to individual patients.
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Enfermedades de las Válvulas Cardíacas , Implantación de Prótesis de Válvulas Cardíacas , Disfunción Ventricular Izquierda , Humanos , Enfermedades de las Válvulas Cardíacas/cirugíaRESUMEN
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.
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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 SistólicoRESUMEN
Tricuspid annular disjunction (TAD) is concomitant in approximately half of mitral annular disjunction (MAD) cases. Here we report a case of echocardiographically isolated TAD detected during Takotsubo syndrome (TTS) complicated by a transient aggravation of tricuspid regurgitation. An 87-year-old female was admitted at the emergency department with ST segment elevation. Coronary angiography findings were consistent with TTS. Transthoracic echocardiography (TTE) showed a left ventricular apical aneurysm with incidental finding of TAD with 'torrential' tricuspid regurgitation. Importantly, no concomitant MAD was detected on TTE. No significant arrhythmias were detected on telemetry surveillance. Follow up TTE showed improvement in left ventricular function with reduced regional wall abnormalities. TAD was still present although the tricuspid regurgitation had reduced to 'moderate'. The patient was discharged home after 23 days of hospital stay. The present case illustrates the need of further investigations into TAD and its clinical implications for acute TR in TTS.
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Cardiomiopatía de Takotsubo , Insuficiencia de la Válvula Tricúspide , Válvula Tricúspide , Humanos , Femenino , Insuficiencia de la Válvula Tricúspide/diagnóstico , Insuficiencia de la Válvula Tricúspide/complicaciones , Cardiomiopatía de Takotsubo/diagnóstico , Cardiomiopatía de Takotsubo/complicaciones , Válvula Tricúspide/diagnóstico por imagen , Anciano de 80 o más Años , Ecocardiografía , Angiografía Coronaria , ElectrocardiografíaRESUMEN
AIMS: To evaluate the diagnosis and imaging of patients with mitral regurgitation (MR) and the management in routine clinical practice across Europe, the European Association of Cardiovascular Imaging Scientific Initiatives Committee performed a survey across European centres. In particular, the routine use of echocardiography, advanced imaging modalities, heart valve clinics, and heart valve teams was explored. METHODS AND RESULTS: A total of 61 responders, mainly from tertiary centres or university hospitals, from 26 different countries responded to the survey, which consisted of 22 questions. For most questions related to echocardiography and advanced imaging, the answers were relatively homogeneous and demonstrated good adherence to current recommendations. In particular, the centres used a multi-parametric echocardiographic approach and selected the effective regurgitant orifice and vena contracta width as their preferred assessments. 2D measurements are still the most widely used parameters to assess left ventricular structure; however, the majority use 3D trans-oesophageal echocardiography (TOE) to evaluate valve morphology in severe MR. The majority of centres reported the onsite availability and clinical use of ergometric stress echocardiography, cardiac computed tomography (CCT), and cardiac magnetic resonance (CMR) imaging. Heart valve clinics and heart valve teams were also widely prevalent. CONCLUSION: Consistent with current guidelines, echocardiography (transthoracic echocardiography and TOE) remains the first-line and central imaging modality for the assessment of MR although the complementary use of 3D TOE, CCT, and CMR appears to be growing. Heart valve clinics and heart valve teams are now widely prevalent.
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Insuficiencia de la Válvula Mitral , Insuficiencia de la Válvula Mitral/diagnóstico por imagen , Humanos , Europa (Continente) , Femenino , Masculino , Sociedades Médicas , Ecocardiografía/métodos , Encuestas y Cuestionarios , Ecocardiografía Tridimensional/métodos , Ecocardiografía Transesofágica/métodos , Técnicas de Imagen Cardíaca , Imagen por Resonancia Cinemagnética/métodos , Pautas de la Práctica en Medicina/estadística & datos numéricos , Índice de Severidad de la Enfermedad , Persona de Mediana EdadRESUMEN
Methadone (R,S-methadone) can prolong the QT interval. R-methadone inhibits cardiac potassium channel function less than S-methadone. We tested if switching from methadone to R-methadone would reduce corrected QT (QTc) intervals in methadone maintenance treatment (MMT) patients. Nine patients, with automatically read QTc intervals ≥450 ms, were required to detect a 20 ms (clinically relevant) reduction in QTc intervals with 15 ms standard deviation (SD) and 90% power. Nine stabilized MMT patients, using median (range) 70 (40-120) mg methadone, were included. Data (ECG recordings, serum samples, and withdrawal symptoms) were collected both before drug intake (Cmin ) and at 3 h after drug intake (Cmax ), and were collected on the day before the switch from methadone to equipotent R-methadone dose and at 14 and 28 days after the switch. A cardiologist calculated QTc intervals retrospectively. Serum electrolytes and methadone concentrations were measured. Mean QTc intervals at Cmin were 472 ms and 422 ms on methadone (automatically and manually read) and 414 ms on R-methadone (manually read). Mean (SD) change in QTc intervals was -8 (10) ms (p = 0.047) at Cmin but non-significant at Cmax . R-methadone showed a concentration-dependent relationship with QTc intervals. Switching to R-methadone reduced QTc intervals, but far less than the 20 ms considered clinically relevant.
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Síndrome de QT Prolongado , Metadona , Humanos , Metadona/uso terapéutico , Estudios Retrospectivos , Síndrome de QT Prolongado/inducido químicamente , ElectrocardiografíaRESUMEN
Clinical differentiation between athletes' hearts and those with hypertrophic cardiomyopathy (HCM) can be challenging. We aimed to explore the role of speckle tracking echocardiography (STE) and cardiac magnetic resonance imaging (CMR) in the differentiation between athletes' hearts and those with mild HCM. We compared 30 competitive endurance elite athletes (7% female, age 41 ± 9 years) and 20 mild phenotypic mutation-positive HCM carriers (15% female, age 51 ± 12 years) with left ventricular wall thickness 13 ± 1 mm. Mechanical dispersion (MD) was assessed by means of STE. Native T1-time and extracellular volume (ECV) were assessed by means of CMR. MD was higher in HCM mutation carriers than in athletes (54 ± 16 ms vs. 40 ± 11 ms, p = 0.001). Athletes had a lower native T1-time (1204 (IQR 1191, 1234) ms vs. 1265 (IQR 1255, 1312) ms, p < 0.001) and lower ECV (22.7 ± 3.2% vs. 25.6 ± 4.1%, p = 0.01). MD > 44 ms optimally discriminated between athletes and HCM mutation carriers (AUC 0.78, 95% CI 0.65-0.91). Among the CMR parameters, the native T1-time had the best discriminatory ability, identifying all HCM mutation carriers (100% sensitivity) with a specificity of 75% (AUC 0.83, 95% CI 0.71-0.96) using a native T1-time > 1230 ms as the cutoff. STE and CMR tissue characterization may be tools that can differentiate athletes' hearts from those with mild HCM.
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Cardiovascular diseases (CVD) represent an important cause of mortality and morbidity in women. It is now recognized that there are sex differences regarding the prevalence and the clinical significance of the traditional cardiovascular (CV) risk factors as well as the pathology underlying a range of CVDs. Unfortunately, women have been under-represented in most CVD imaging studies and trials regarding diagnosis, prognosis, and therapeutics. There is therefore a clear need for further investigation of how CVD affects women along their life span. Multimodality CV imaging plays a key role in the diagnosis of CVD in women as well as in prognosis, decision-making, and monitoring of therapeutics and interventions. However, multimodality imaging in women requires specific consideration given the differences in CVD between the sexes. These differences relate to physiological changes that only women experience (e.g. pregnancy and menopause) as well as variation in the underlying pathophysiology of CVD and also differences in the prevalence of certain conditions such as connective tissue disorders, Takotsubo, and spontaneous coronary artery dissection, which are all more common in women. This scientific statement on CV multimodality in women, an initiative of the European Association of Cardiovascular Imaging of the European Society of Cardiology, reviews the role of multimodality CV imaging in the diagnosis, management, and risk stratification of CVD, as well as highlights important gaps in our knowledge that require further investigation.