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AIMS: KCNQ1 mutations cause QTc prolongation increasing life-threatening arrhythmias risks. Heterozygous mutations [type 1 long QT syndrome (LQT1)] are common. Homozygous KCNQ1 mutations cause type 1 Jervell and Lange-Nielsen syndrome (JLNS) with deafness and higher sudden cardiac death risk. KCNQ1 variants causing JLNS or LQT1 might have distinct phenotypic expressions in heterozygous patients. The aim of this study is to evaluate QTc duration and incidence of long QT syndrome-related cardiac events according to genetic presentation. METHODS AND RESULTS: We enrolled LQT1 or JLNS patients with class IV/V KCNQ1 variants from our inherited arrhythmia clinic (September 1993 to January 2023). Medical history, ECG, and follow-up were collected. Additionally, we conducted a thorough literature review for JLNS variants. Survival curves were compared between groups, and multivariate Cox regression models identified genetic and clinical risk factors. Among the 789 KCNQ1 variant carriers, 3 groups were identified: 30 JLNS, 161 heterozygous carriers of JLNS variants (HTZ-JLNS), and 550 LQT1 heterozygous carriers of non-JLNS variants (HTZ-Non-JLNS). At diagnosis, mean age was 3.4 ± 4.7 years for JLNS, 26.7 ± 21 years for HTZ-JLNS, and 26 ± 21 years for HTZ-non-JLNS; 55.3% were female; and the mean QTc was 551 ± 54â ms for JLNS, 441 ± 32â ms for HTZ-JLNS, and 467 ± 36â ms for HTZ-Non-JLNS. Patients with heterozygous JLNS mutations (HTZ-JLNS) represented 22% of heterozygous KCNQ1 variant carriers and had a lower risk of cardiac events than heterozygous non-JLNS variant carriers (HTZ-Non-JLNS) [hazard ratio (HR) = 0.34 (0.22-0.54); P < 0.01]. After multivariate analysis, four genetic parameters were independently associated with events: haploinsufficiency [HR = 0.60 (0.37-0.97); P = 0.04], pore localization [HR = 1.61 (1.14-1.2.26); P < 0.01], C-terminal localization [HR = 0.67 (0.46-0.98); P = 0.04], and group [HR = 0.43 (0.27-0.69); P < 0.01]. CONCLUSION: Heterozygous carriers of JLNS variants have a lower risk of cardiac arrhythmic events than other LQT1 patients.
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Canal de Potasio KCNQ1 , Síndrome de Romano-Ward , Humanos , Canal de Potasio KCNQ1/genética , Femenino , Masculino , Medición de Riesgo , Síndrome de Romano-Ward/genética , Síndrome de Romano-Ward/fisiopatología , Síndrome de Romano-Ward/diagnóstico , Factores de Riesgo , Niño , Electrocardiografía , Preescolar , Heterocigoto , Mutación , Síndrome de Jervell-Lange Nielsen/genética , Síndrome de Jervell-Lange Nielsen/fisiopatología , Predisposición Genética a la Enfermedad , Lactante , Adulto , Adolescente , Fenotipo , Estudios Retrospectivos , Muerte Súbita Cardíaca/etiología , Adulto Joven , IncidenciaRESUMEN
BACKGROUND: Enzyme replacement therapy (ERT) may halt or attenuate disease progression in patients with Anderson-Fabry disease (AFD). However, whether left ventricular hypertrophy (LVH) can be prevented by early therapy or may still progress despite ERT over a long-term follow-up is still unclear. METHODS: Consecutive patients with AFD from the Independent Swiss-Fabry Cohort receiving ERT who were at least followed up for 5 years were included. Cardiac progression was defined as an increase of >10 g/m2 in left ventricular mass index (LVMI) between the first and the last available follow-up transthoracic echocardiography. RESULTS: 60 patients (35 (23-48) years, 39 (65%) men) were followed up for 10.5 (7.2-12.2) years. 22 had LVH at ERT start (LVMI of 150±38 g/m2). During follow-up, 22 (36%, 34±15 years) had LVMI progression of 12.1 (7-17.6) g/m2 per 100 patient-years, of these 7 (11%, 29±13 years) with no LVH at baseline. Three of them progressed to LVH. LVMI progression occurred mostly in men (17 of 39 (43%) vs 5 of 21 (24%), p<0.01) and after the age of 30 years (17 of 22 (77%)). LVH at ERT start was associated with LVMI progression (OR 1.3, 95% CI 1.1 to 2.6; p=0.02). A total of 19 (31%) patients experienced a major AFD-related event. They were predominantly men (17 of 19, 89%), older (45±11 vs 32±9 years) with baseline LVH (12 of 19, 63%), and 10 of 19 (52%) presented with LVMI progression. CONCLUSIONS: Over a median follow-up of >10 years under ERT, 36% of the patients still had LVMI cardiac progression, and 32%, predominantly older men, experienced major AFD-related events. LVH at treatment initiation was a strong predictor of LVMI progression and adverse events on ERT.
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Progresión de la Enfermedad , Terapia de Reemplazo Enzimático , Enfermedad de Fabry , Hipertrofia Ventricular Izquierda , Humanos , Enfermedad de Fabry/tratamiento farmacológico , Enfermedad de Fabry/complicaciones , Hipertrofia Ventricular Izquierda/etiología , Hipertrofia Ventricular Izquierda/fisiopatología , Hipertrofia Ventricular Izquierda/diagnóstico por imagen , Masculino , Terapia de Reemplazo Enzimático/métodos , Adulto , Femenino , Persona de Mediana Edad , Adulto Joven , Ecocardiografía , Suiza/epidemiología , Factores de Tiempo , alfa-Galactosidasa/uso terapéutico , Estudios de Seguimiento , Resultado del Tratamiento , Factores de RiesgoRESUMEN
Objective.Cardiac arrhythmias are a leading cause of mortality worldwide. Wearable devices based on photoplethysmography give the opportunity to screen large populations, hence allowing for an earlier detection of pathological rhythms that might reduce the risks of complications and medical costs. While most of beat detection algorithms have been evaluated on normal sinus rhythm or atrial fibrillation recordings, the performance of these algorithms in patients with other cardiac arrhythmias, such as ventricular tachycardia or bigeminy, remain unknown to date.Approach. ThePPG-beatsopen-source framework, developed by Charlton and colleagues, evaluates the performance of the beat detectors namedQPPG,MSPTDandABDamong others. We applied thePPG-beatsframework on two newly acquired datasets, one containing seven different types of cardiac arrhythmia in hospital settings, and another dataset including two cardiac arrhythmias in ambulatory settings.Main Results. In a clinical setting, theQPPGbeat detector performed best on atrial fibrillation (with a medianF1score of 94.4%), atrial flutter (95.2%), atrial tachycardia (87.0%), sinus rhythm (97.7%), ventricular tachycardia (83.9%) and was ranked 2nd for bigeminy (75.7%) behindABDdetector (76.1%). In an ambulatory setting, theMSPTDbeat detector performed best on normal sinus rhythm (94.6%), and theQPPGdetector on atrial fibrillation (91.6%) and bigeminy (80.0%).Significance. Overall, the PPG beat detectorsQPPG,MSPTDandABDconsistently achieved higher performances than other detectors. However, the detection of beats from wrist-PPG signals is compromised in presence of bigeminy or ventricular tachycardia.
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Fibrilación Atrial , Taquicardia Ventricular , Humanos , Frecuencia Cardíaca , Fibrilación Atrial/diagnóstico , Fotopletismografía/métodos , Benchmarking , Taquicardia Ventricular/diagnóstico , Algoritmos , Electrocardiografía/métodosRESUMEN
Over the last few years, pacing of the conduction system (CSP) has emerged as the new standard pacing modality for bradycardia indications, allowing a more physiological ventricular activation compared to conventional right ventricular pacing. CSP has also emerged as an alternative modality to conventional biventricular pacing for the delivery of cardiac resynchronization therapy (CRT) in heart failure patients. However, if the initial clinical data seem to support this new physiological-based approach to CRT, the lack of large randomized studies confirming these preliminary results prevents CSP from being used routinely in clinical practice. Furthermore, concerns are still present regarding the long-term performance of pacing leads when employed for CSP, as well as their extractability. In this review article, we provide the state-of-the-art of CSP as an alternative to biventricular pacing for CRT delivery in heart failure patients. In particular, we describe the physiological concepts supporting this approach and we discuss the future perspectives of CSP in this context according to the implant techniques (His bundle pacing and left bundle branch area pacing) and the clinical data published so far.
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Background: Cardiac sarcoidosis is associated with heart failure, conduction abnormalities, and life-threatening arrhythmias including ventricular tachycardia (VT). Radiotherapy has been suggested as a treatment for extra-cardiac sarcoidosis in patients refractory to immunomodulatory treatment. Methods: The effectiveness and safety of low-dose whole-heart radiotherapy for therapy refractory cardiac sarcoidosis were evaluated in a pre- and post-intervention case report comparing the 54 months before and after treatment. Immunomodulatory low-dose whole-heart irradiation as sarcoidosis treatment consisted of a 2 × 2â Gy scheme. Additionally, high-dose single-fraction stereotactic arrhythmia radioablation of 1 × 20â Gy was applied to the pro-arrhythmic region to manage the ventricular tachycardia episodes. Cardiac sarcoidosis disease activity was measured by hypermetabolic areas on repeated fluorodeoxyglucose ([18F]FDG)-PET/computed tomography (CT) scans and by evaluating changes in ventricular tachycardia episodes before and after treatment. Results: One patient with therapy refractory progressive cardiac sarcoidosis and recurrent ventricular tachycardia was treated. The cardiac sarcoidosis disease activity showed a durable regression of inflammatory disease activity from 3â months onwards. The [18F]FDG-PET/CT scan at 54â months did not show any signs of active cardiac sarcoidosis, and a state of remission was achieved. The number of sustained VT episodes was reduced by 95%. We observed that the development of moderate aortic valve regurgitation was likely irradiation-related. No other irradiation-related adverse events occurred, and the left ventricular ejection fraction remained stable. Conclusion: We report here for the first time on the beneficial and lasting effects of combined immunomodulatory low-dose whole-heart radiotherapy and high-dose stereotactic arrhythmia radioablation in a patient with therapy refractory cardiac sarcoidosis and recurrent VT.
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AIMS: Calmodulinopathy due to mutations in any of the three CALM genes (CALM1-3) causes life-threatening arrhythmia syndromes, especially in young individuals. The International Calmodulinopathy Registry (ICalmR) aims to define and link the increasing complexity of the clinical presentation to the underlying molecular mechanisms. METHODS AND RESULTS: The ICalmR is an international, collaborative, observational study, assembling and analysing clinical and genetic data on CALM-positive patients. The ICalmR has enrolled 140 subjects (median age 10.8 years [interquartile range 5-19]), 97 index cases and 43 family members. CALM-LQTS and CALM-CPVT are the prevalent phenotypes. Primary neurological manifestations, unrelated to post-anoxic sequelae, manifested in 20 patients. Calmodulinopathy remains associated with a high arrhythmic event rate (symptomatic patients, n = 103, 74%). However, compared with the original 2019 cohort, there was a reduced frequency and severity of all cardiac events (61% vs. 85%; P = .001) and sudden death (9% vs. 27%; P = .008). Data on therapy do not allow definitive recommendations. Cardiac structural abnormalities, either cardiomyopathy or congenital heart defects, are present in 30% of patients, mainly CALM-LQTS, and lethal cases of heart failure have occurred. The number of familial cases and of families with strikingly different phenotypes is increasing. CONCLUSION: Calmodulinopathy has pleiotropic presentations, from channelopathy to syndromic forms. Clinical severity ranges from the early onset of life-threatening arrhythmias to the absence of symptoms, and the percentage of milder and familial forms is increasing. There are no hard data to guide therapy, and current management includes pharmacological and surgical antiadrenergic interventions with sodium channel blockers often accompanied by an implantable cardioverter-defibrillator.
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Calmodulina , Síndrome de QT Prolongado , Taquicardia Ventricular , Niño , Humanos , Calmodulina/genética , Muerte Súbita Cardíaca/etiología , Síndrome de QT Prolongado/diagnóstico , Síndrome de QT Prolongado/genética , Mutación/genética , Sistema de Registros , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/genéticaRESUMEN
MYBPC3 is the most frequently mutated gene in hypertrophic cardiomyopathy (HCM). Several loss-of-function founder variants have been reported in MYBPC3 from various geographic regions, altogether suggestive of a modest or absent effect of these variants on reproductive fitness. One of them, a MYBPC3 splice variant, NM_000256.3:c.3330+2T > G, was first described in homozygous state in newborns presenting with a severe, recessive form of HCM among the Amish population and was later associated with adult-onset dominant HCM in heterozygous carriers. We here report this splice variant in heterozygous state in eight unrelated Swiss families with HCM, making it the most prevalent cardiomyopathy variant in western Switzerland. This variant was identified in patients using targeted (n = 5) or full-genome sequencing (n = 3). Given the prevalence of this variant in the Old Order Amish, Mennonites and Swiss populations, and given that both Amish and Mennonites founders originated from the Bern Canton in Switzerland, the MYBPC3, NM_000256.3:c.3330+2T > G variant appears to be of Swiss origin. Neighboring regions that hosted the first Amish settlements (Alsace, South Germany) should be on the lookout for that variant. The existence of MYBPC3 founder variants in different populations suggests that individuals with early-onset clinical disease may be the tip of the iceberg of a much larger number of asymptomatic carriers. Alternatively, reproductive fitness could even be slightly increased in some variant carriers to compensate for the reduction of fitness in the more severely affected ones, but this remains to be investigated.
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Cardiomiopatía Hipertrófica , Proteínas Portadoras , Adulto , Humanos , Recién Nacido , Suiza , Proteínas Portadoras/genética , Cardiomiopatía Hipertrófica/genética , Mutación , Heterocigoto , Proteínas del Citoesqueleto/genéticaRESUMEN
Atrial fibrillation (AF) is the most common arrhythmia encountered in adults; it is associated with a significant morbidity and mortality. Obesity is a risk factor contributing to AF occurrence. Recently, interest has focused on epicardial adipose tissue (EAT), defined as a fatty deposit located between the epicardium and the visceral pericardium. Its characteristics are distinct from classic adipose deposits: it infiltrates the epicardial myocardium and secretes cytokines, which modulate cardiomyocyte electrophysiology and cardiac remodeling. Different studies show that EAT can be an independent risk factor for AF and that EAT thickness, as measured by CT or MRI, could predict the presence, severity and recurrence of AF.
La fibrillation auriculaire (FA) est l'arythmie la plus fréquemment rencontrée chez l'adulte ; elle est associée à une morbi-mortalité importante. L'obésité est un facteur de risque contribuant à sa survenue. Récemment, l'intérêt s'est porté sur le tissu adipeux épicardique (TAE), défini comme un dépôt adipeux situé entre l'épicarde et le péricarde viscéral. Ses caractéristiques sont distinctes des dépôts adipeux classiques : il infiltre le myocarde épicardique et sécrète des cytokines modulant l'électrophysiologie des cardiomyocytes et provoquant un remodelage fibro-adipeux cardiaque. Différentes études montrent que le TAE peut être un facteur de risque indépendant de survenue de FA. L'épaisseur du TAE mesurée par CT-scan ou par IRM pourrait être utilisée comme facteur prédictif de la présence, de la gravité et de la récidive de FA.
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Fibrilación Atrial , Tejido Adiposo , Fibrilación Atrial/epidemiología , Humanos , Obesidad/complicaciones , Obesidad/epidemiología , Pericardio/diagnóstico por imagen , Factores de RiesgoRESUMEN
Over the last decades, the implementation of new technology in cardiac pacemakers and defibrillators as well as the increasing life expectancy have been associated with a higher incidence of transvenous lead complications over time. Variable degrees of venous stenosis at the level of the subclavian vein, the innominate trunk and the superior vena cava are reported in up to 50% of implanted patients. Importantly, the number of implanted leads seems to be the main risk factor for such complications. Extraction of abandoned or dysfunctional leads is a potential solution to overcome venous stenosis in case of device upgrades requiring additional leads, but also, in addition to venous angioplasty and stenting, to reduce symptoms related to the venous stenosis itself, i.e., the superior vena cava syndrome. This review explores the role of transvenous lead extraction procedures as therapeutical option in case of central venous disorders related to transvenous cardiac leads. We also describe the different extraction techniques available and other clinical indications for lead extractions such as lead infections. Finally, we discuss the alternative therapeutic options for cardiac stimulation or defibrillation in case of chronic venous occlusions that preclude the implant of conventional transvenous cardiac devices.
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SCN5A overlap syndromes are clinical entities that express a phenotype combining aspects of different canonical SCN5A-related arrhythmia syndromes or a variable arrhythmic phenotype among individuals carrying the same SCN5A mutation. Here we review the literature addressing SCN5A overlap syndromes as well as the principal mechanisms currently proposed. Among others, a multifactorial determination encompassing an interaction between SCN5A variant(s), other genetic polymorphisms, and possibly environmental factors seems the most plausible hypothesis.
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Síndrome de Brugada , Canal de Sodio Activado por Voltaje NAV1.5 , Arritmias Cardíacas/genética , Síndrome de Brugada/genética , Humanos , Mutación , Canal de Sodio Activado por Voltaje NAV1.5/genética , Fenotipo , SíndromeRESUMEN
BACKGROUND: The use of stress perfusion-cardiovascular magnetic resonance (CMR) imaging remains limited in patients with implantable devices. The primary goal of the study was to assess the safety, image quality, and the diagnostic value of stress perfusion-CMR in patients with MR-conditional transvenous permanent pacemakers (PPM) or implantable cardioverter-defibrillators (ICD). METHODS: Consecutive patients with a transvenous PPM or ICD referred for adenosine stress-CMR were enrolled in this single-center longitudinal study. The CMR protocol was performed using a 1.5 T system according to current guidelines while all devices were put in MR-mode. Quality of cine, late-gadolinium-enhancement (LGE), and stress perfusion sequences were assessed. An ischemia burden of ≥ 1.5 segments was considered significant. We assessed the safety, image quality and the occurrence of interference of the magnetic field with the implantable device. In case of ischemia, we also assessed the correlation with the presence of significant coronary lesions on coronary angiography. RESULTS: Among 3743 perfusion-CMR examinations, 66 patients had implantable devices (1.7%). Image quality proved diagnostic in 98% of cases. No device damage or malfunction was reported immediately and at 1 year. Fifty patients were continuously paced during CMR. Heart rate and systolic blood pressure remained unchanged during adenosine stress, while diastolic blood pressure decreased (p = 0.007). Six patients (9%) had an ischemia-positive stress CMR and significant coronary stenoses were confirmed by coronary angiography in all cases. CONCLUSION: Stress perfusion-CMR is safe, allows reliable ischemia detection, and provides good diagnostic value.
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Desfibriladores Implantables , Imagen de Perfusión Miocárdica , Marcapaso Artificial , Adenosina , Estudios de Factibilidad , Humanos , Estudios Longitudinales , Imagen por Resonancia Magnética , Imagen por Resonancia Cinemagnética , Espectroscopía de Resonancia Magnética , Imagen de Perfusión , Valor Predictivo de las PruebasRESUMEN
BACKGROUND: The diagnosis of inflammatory cardiomyopathy remains challenging in cases presenting with arrhythmia as sole manifestation. An early diagnosis is critical as it may prevent life-threatening complications such as sudden cardiac death and atrioventricular block (AVB). The diagnostic workup of suspected cases includes multimodality imaging that requires an adequate interpretation in order to limit the risk of overdiagnosis. CASE SUMMARY: Herein, we report three cases presenting with various new-onset arrhythmias. The first patient was admitted for a third-degree AVB. The second patient suffered from a supraventricular tachycardia which degenerated into ventricular fibrillation. The third case was investigated for symptomatic premature ventricular complexes. No apparent heart disease was observed on standard exams (clinical, biological examinations, and echocardiography). However, cardiac magnetic resonance imaging (MRI) and nuclear imaging (68Ga-DOTATOC and/or 18F-FDG PET/CT) suggested an inflammatory substrate that seemed to correlate with the arrhythmic phenotype. Cardiac inflammation disappeared on immunotherapy for the first case and spontaneously for the third case. DISCUSSION: These cases emphasize the incremental diagnostic yield of multimodality imaging to highlight myocardial inflammation. Nuclear imaging modalities may complement MRI by enabling the detection of active inflammation. The 18F-FDG PET/CT is well established for the diagnosis of cardiac sarcoidosis but its role remains to be clarified for the diagnosis of myocarditis. An alternative radiotracer, 68Ga-DOTATOC, appears promising by overcoming the main limitation of 18F-FDG but its specificity is not yet well established. The role of functional investigations is discussed as well as the benefit of immunosuppressive treatments.
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OBJECTIVES: We aimed to evaluate the relationship between mitral annular disjunction (MAD) severity and myocardial interstitial fibrosis at the left ventricular (LV) base in patients with mitral valve prolapse (MVP), and to assess the association between severity of interstitial fibrosis and the occurrence of ventricular arrhythmic events. BACKGROUND: In MVP, MAD has been associated with myocardial replacement fibrosis and arrhythmia, but the importance of interstitial fibrosis remains unknown. METHODS: In this retrospective study, 30 patients with MVP and MAD (MVP-MAD) underwent cardiovascular magnetic resonance (CMR) with assessment of MAD length, late gadolinium enhancement (LGE), and basal segments myocardial extracellular volume (ECVsyn). The control group included 14 patients with mitral regurgitation (MR) but no MAD (MR-NoMAD) and 10 patients with normal CMR (NoMR-NoMAD). Fifteen MVP-MAD patients underwent 24 h-Holter monitoring. RESULTS: LGE was observed in 47% of MVP-MAD patients and was absent in all controls. ECVsyn was higher in MVP-MAD (30 ± 3% vs 24 ± 3% MR-NoMAD, p < 0.001 and vs 24 ± 2% NoMR-NoMAD, p < 0.001), even in MVP-MAD patients without LGE (29 ± 3% vs 24 ± 3%, p < 0.001 and vs 24 ± 2%, p < 0.001, respectively). MAD length correlated with ECVsyn (rho = 0.61, p < 0.001), but not with LGE extent. Four patients had history of out-of-hospital cardiac arrest; LGE and ECVsyn were equally performant to identify those high-risk patients, area under the receiver operating characteristic (ROC) curve 0.81 vs 0.83, p = 0.84). Among patients with Holter, 87% had complex ventricular arrhythmia. ECVsyn was above the cut-off value in all while only 53% had LGE. CONCLUSION: Increase in ECVsyn, a marker of interstitial fibrosis, occurs in MVP-MAD even in the absence of LGE, and was correlated with MAD length and increased risk of out-of-hospital cardiac arrest. ECV should be includedin the CMR examination of MVP patients in an effort to better assess fibrous remodelling as it may provide additional value beyond the assessment of LGE in the arrhythmic risk stratification.
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Insuficiencia de la Válvula Mitral , Prolapso de la Válvula Mitral , Arritmias Cardíacas/diagnóstico por imagen , Arritmias Cardíacas/etiología , Medios de Contraste , Gadolinio , Humanos , Insuficiencia de la Válvula Mitral/diagnóstico por imagen , Insuficiencia de la Válvula Mitral/etiología , Prolapso de la Válvula Mitral/diagnóstico por imagen , Valor Predictivo de las Pruebas , Estudios RetrospectivosRESUMEN
Lithium is frequently used in the treatment of bipolar disorders and is known to induce ECG alterations. This case study describes various patterns of lithium-induced ECG modifications in a patient with acute-on-chronic lithium intoxication. Clinicians should be familiar with this problem as it can have life-threatening consequences and lead to important changes in patient's management. Our patient was admitted for acute delirium with an ECG showing atrial fibrillation with wide QRS and ST-segment elevation. These modifications were first mistaken for an acute myocardial infarction and a diagnosis of Brugada syndrome was finally reached. Treatment after the acute phase implied changes in the therapeutic modality and required frequent monitoring.
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Síndrome Coronario Agudo , Fibrilación Atrial , Síndrome de Brugada , Síndrome Coronario Agudo/inducido químicamente , Síndrome Coronario Agudo/diagnóstico , Síndrome Coronario Agudo/tratamiento farmacológico , Síndrome de Brugada/inducido químicamente , Síndrome de Brugada/diagnóstico , Electrocardiografía , Humanos , Litio/efectos adversosRESUMEN
The gene SCN5A encodes the cardiac sodium channel which, through the conduction of Na+ current into the cell, generates the fast upstroke of the action potential of cardiomyocytes. Pathogenic variants of SCN5A have been causally associated to several hereditary cardiac diseases including, among others, Brugada syndrome, congenital long QT syndrome and sinus node dysfunction. Recently, overlap syndromes have been described that are characterized by the simultaneous expression of mixed clinical phenotypes among two or more hereditary cardiac diseases associated to the gene SCN5A (HCD-SCN5A). For this reason, it is time to rethink about HCD-SCN5A as different expressions of the same complex spectrum encompassing multiple clinical phenotypes with pronounced overlaps instead of as distinct clinical entities.
Le gène SCN5A code pour le canal sodique cardiaque qui est responsable de la pente de dépolarisation rapide du potentiel d'action. Plusieurs cardiopathies héréditaires (CH) ont été associées à des variants pathogènes du gène SCN5A incluant, entre autres, le syndrome de Brugada, le syndrome du QT long congénital et la dysfonction sinusale. Récemment, des syndromes de chevauchement ont été également décrits, s'exprimant, chez un même patient, par un phénotype clinique mixte comprenant une combinaison des manifestations rapportées ci-dessus. Dans ce contexte, nous devrions donc reconsidérer cliniquement les CH impliquant le gène SCN5A comme des expressions différentes d'un même éventail de phénotypes cliniques avec chevauchements marqués plutôt que comme des entités cliniques distinctes et isolées.
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Síndrome de Brugada , Síndrome de QT Prolongado , Síndrome del Seno Enfermo , Síndrome de Brugada/genética , Humanos , Síndrome de QT Prolongado/genética , Mutación , Canal de Sodio Activado por Voltaje NAV1.5/genética , Fenotipo , Síndrome del Seno Enfermo/genética , SíndromeRESUMEN
BACKGROUND: Carotid plaque neovascularization (vasa vasorum [VV]) may be useful for detecting high-risk atherosclerotic plaques. Contrast-enhanced ultrasound (CEUS) and dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) are 2 commonly used techniques for imaging VV of the carotid plaque, yet the relationship between their measurements remains unknown. OBJECTIVES: We aimed to blindly evaluate the correlation between CEUS and DCE-MRI in measuring carotid plaque VV. METHODS: We recruited subjects with asymptomatic carotid stenosis (≥50%). VV was graded by CEUS, based on richness of contrast signal, according to 3 different methods named CEUS_A, CEUS_B and CEUS_C on different point scales (the higher the values, the higher the estimated VV). A 3.0 T MRI scanner was used for VV quantification by DCE-MRI using gadolinium contrast kinetic modelling for computing the fractional plasma volume (vp) and transfer constant (Ktrans). RESULTS: The analysis included 30 patients. A significant correlation between CEUS and DCE-MRI findings was observed when CEUS_C was used for neovessel grading and DCE-MRI was used to determine adventitial (r = 0.460, p = 0.010) and plaque (r = 0.374, p = 0.042) Ktrans values. CEUS_B (r = 0.416, p = 0.022) and CEUS_C (r = 0.443, p = 0.014) grading showed a significant correlation with regard to the maximal Ktrans. CONCLUSIONS: We found a positive but weak correlation and a moderate diagnostic agreement between neovessels as visually graded by CEUS and adventitial neovessels assessed by DCE-MRI Ktrans in carotid atherosclerosis. These findings may help in understanding how VV density, flow, and permeability influence in vivo measurements by CEUS and DCE-MRI as well as in selecting the most appropriate variables and imaging method in future research and potentially in clinical settings. Further confirmative studies are necessary to confirm our results.
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Arterias Carótidas/diagnóstico por imagen , Estenosis Carotídea/diagnóstico por imagen , Medios de Contraste/administración & dosificación , Angiografía por Resonancia Magnética , Meglumina/administración & dosificación , Neovascularización Patológica , Compuestos Organometálicos/administración & dosificación , Fosfolípidos/administración & dosificación , Placa Aterosclerótica , Hexafluoruro de Azufre/administración & dosificación , Ultrasonografía Doppler Dúplex , Anciano , Anciano de 80 o más Años , Enfermedades Asintomáticas , Arterias Carótidas/patología , Estenosis Carotídea/patología , Femenino , Humanos , Masculino , Valor Predictivo de las PruebasRESUMEN
PURPOSE: To prospectively evaluate the long-term outcomes after a telementoring program for distant teaching of endovascular aneurysm repair (EVAR) and the degree of EVAR procedure assimilation into routine practice. METHODS: A telementoring protocol using stepwise introduction of EVAR was implemented between a university care center and a remote vascular health care site; from March 1999 to October 2003, 49 EVAR patients (mean age 72 years; 48 men) were treated during telementoring at the remote center. After the telementoring period, 86 patients (mean age 71 years; 77 men) underwent EVAR procedures carried out at the secondary care center from November 2003 to July 2011. The long-term outcomes were compared between the EVAR procedures performed during telementoring with the procedures performed independently thereafter. RESULTS: No significant difference was appreciated between telementored and not telementored procedures either in 30-day mortality (4.1% vs 2.3%, p=0.621) or in the initial technical success (93.9% vs 97.7%, p=0.353). The telementored group showed no significant difference in overall aneurysm-related mortality (6.1% vs 2.3%, p=0.353) or in the overall complication rates (p=0.985). The reintervention rate was significantly lower among the unmentored procedures (11.6% vs 32.7%, p=0.004). In particular, significantly fewer patients underwent late endovascular procedures (1.2% vs 12.2%, p=0.009) and late percutaneous interventions (7.0% vs 20.4%, p=0.027) after telementoring ceased. CONCLUSION: The telementoring program followed here allowed excellent EVAR skill assimilation into the routine practice of a remote health care site. Telementoring is a feasible strategy to support skill introduction in remote medical facilities.
Asunto(s)
Aneurisma de la Aorta Abdominal/cirugía , Implantación de Prótesis Vascular/educación , Instrucción por Computador/métodos , Educación a Distancia/métodos , Procedimientos Endovasculares/educación , Mentores , Telemedicina/métodos , Anciano , Aneurisma de la Aorta Abdominal/mortalidad , Aortografía/métodos , Implantación de Prótesis Vascular/efectos adversos , Implantación de Prótesis Vascular/mortalidad , Competencia Clínica , Angiografía por Tomografía Computarizada , Curriculum , Procedimientos Endovasculares/efectos adversos , Procedimientos Endovasculares/mortalidad , Femenino , Humanos , Masculino , Complicaciones Posoperatorias/mortalidad , Complicaciones Posoperatorias/cirugía , Evaluación de Programas y Proyectos de Salud , Estudios Prospectivos , Reoperación , Factores de Riesgo , Factores de Tiempo , Resultado del TratamientoRESUMEN
Here we provide the correlation among different carotid ultrasound (US) variables to assess echogenicity n standard carotid US and to assess intraplaque neovascularization on contrast enhanced US. We recruited 45 consecutive subjects with an asymptomatic≥50% carotid artery stenosis. Carotid plaque echogenicity at standard US was visually graded according to Gray-Weale classification (GW) and measured by the greyscale median (GSM), a semi-automated computerized measurement performed by Adobe Photoshop®. On CEUS imaging IPNV was graded according to the visual appearance of contrast within the plaque according to three different methods: CEUS_A (1=absent; 2=present); CEUS_B a three-point scale (increasing IPNV from 1 to 3); CEUS_C a four-point scale (increasing IPNV from 0 to 3). We have also implemented a new simple quantification method derived from region of interest (ROI) signal intensity ratio as assessed by QLAB software. Further information is available in "Contrast-enhanced ultrasound imaging of intraplaque neovascularization and its correlation to plaque echogenicity in human carotid arteries atherosclerosis (M. Cattaneo, D. Staub, A.P. Porretta, J.M. Gallino, P. Santini, C. Limoni et al., 2016) [1].