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1.
Eur Heart J ; 37(23): 1815-22, 2016 06 14.
Artículo en Inglés | MEDLINE | ID: mdl-26497160

RESUMEN

AIMS: Phenotypic heterogeneity and incomplete penetrance are common in patients with hypertrophic cardiomyopathy (HCM). We aim to improve the understanding in genotype-phenotype correlations in HCM, particularly the contribution of an MYL2 founder mutation and risk factors to left ventricular hypertrophic remodelling. METHODS AND RESULTS: We analysed 14 HCM families of whom 38 family members share the MYL2 c.64G > A [p.(Glu22Lys)] mutation and a common founder haplotype. In this unique cohort, we investigated factors influencing phenotypic outcome in addition to the primary mutation. The mutation alone showed benign disease manifestation with low penetrance. The co-presence of additional risk factors for hypertrophy such as hypertension, obesity, or other sarcomeric gene mutation increased disease penetrance substantially and caused HCM in 89% of MYL2 mutation carriers (P = 0.0005). The most prominent risk factor was hypertension, observed in 71% of mutation carriers with HCM and an additional risk factor. CONCLUSION: The MYL2 mutation c.64G > A on its own is incapable of triggering clinical HCM in most carriers. However, the presence of an additional risk factor for hypertrophy, particularly hypertension, adds to the development of HCM. Early diagnosis of risk factors is important for early treatment of MYL2 mutation carriers and close monitoring should be guaranteed in this case. Our findings also suggest that the presence of hypertension or another risk factor for hypertrophy should not be an exclusion criterion for genetic studies.


Asunto(s)
Miosinas Cardíacas/genética , Efecto Fundador , Hipertrofia Ventricular Izquierda/genética , Mutación/genética , Cadenas Ligeras de Miosina/genética , Femenino , Alemania/epidemiología , Humanos , Hipertensión/genética , Hipertensión/mortalidad , Hipertrofia Ventricular Izquierda/mortalidad , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Remodelación Ventricular/genética
2.
Eur Heart J ; 36(31): 2079-2086, 2015 Aug 14.
Artículo en Inglés | MEDLINE | ID: mdl-25883174

RESUMEN

AIMS: The identification of sex differences in the prognosis of adults with a secundum atrial septal defect (ASD2) could help tailor their clinical management, as it has in other cardiovascular diseases. We investigated whether disparity between the sexes exists in long-term outcome of adult ASD2 patients. METHODS AND RESULTS: Patients with ASD2 classified as the primary defect were selected from the Dutch national registry of adult congenital heart disease. Survival stratified by sex was compared with a sex-matched general population. In a total of 2207 adult patients (mean age at inclusion 44.8 years, 33.0% male), 102 deaths occurred during a cumulative follow-up of 13 584 patient-years. Median survival was 79.7 years for men and 85.6 years for women with ASD2. Compared with the age- and sex-matched general population, survival was lower for male, but equal for female patients (P = 0.015 and 0.766, respectively). Logistic regression analyses showed that men had a higher risk of conduction disturbances (OR = 1.63; 95% CI, 1.22-2.17) supraventricular dysrhythmias (OR = 1.41; 1.12-1.77), cerebrovascular thromboembolic events (OR = 1.53; 1.10-2.12), and heart failure (OR = 1.91; 1.06-3.43). CONCLUSION: In contrast to women, adult men with an ASD2 have worse survival than a sex-matched general population. Male patients also have a greater risk of morbidity during adult life. Sex disparity in survival and morbidity suggests the need for a sex-specific clinical approach towards these patients.

3.
Clin Cardiol ; 47(1): e24161, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37872853

RESUMEN

BACKGROUND: In the Rate Control versus Electrical Cardioversion Trial 7-Acute Cardioversion versus Wait and See, patients with recent-onset atrial fibrillation (AF) were randomized to either early or delayed cardioversion. AIM: This prespecified sub-analysis aimed to evaluate heart rate during AF recurrences after an emergency department (ED) visit identified by an electrocardiogram (ECG)-based handheld device. METHODS: After the ED visit, included patients (n = 437) were asked to use an ECG-based handheld device to monitor for recurrences during the 4-week follow-up period. 335 patients used the handheld device and were included in this analysis. Recordings from the device were collected and assessed for heart rhythm and rate. Optimal rate control was defined as a target resting heart rate of <110 beats per minute (bpm). RESULTS: In 99 patients (29.6%, mean age 67 ± 10 years, 39.4% female, median 6 [3-12] AF recordings) a total of 314 AF recurrences (median 2 [1-3] per patient) were identified during follow-up. The average median resting heart rate at recurrence was 100 ± 21 bpm in the delayed vs 112 ± 25 bpm in the early cardioversion group (p = .011). Optimal rate control was seen in 68.4% [21.3%-100%] and 33.3% [0%-77.5%] of recordings (p = .01), respectively. Randomization group [coefficient -12.09 (-20.55 to -3.63, p = .006) for delayed vs. early cardioversion] and heart rate on index ECG [coefficient 0.46 (0.29-0.63, p < .001) per bpm increase] were identified on multivariable analysis as factors associated with lower median heart rate during AF recurrences. CONCLUSION: A delayed cardioversion strategy translated into a favorable heart rate profile during AF recurrences.


Asunto(s)
Fibrilación Atrial , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Fibrilación Atrial/diagnóstico , Fibrilación Atrial/terapia , Cardioversión Eléctrica , Electrocardiografía , Frecuencia Cardíaca , Recurrencia , Ensayos Clínicos Controlados Aleatorios como Asunto
4.
Heart ; 109(1): 26-33, 2022 12 13.
Artículo en Inglés | MEDLINE | ID: mdl-36322782

RESUMEN

OBJECTIVE: The Rate Control versus Electrical Cardioversion Trial 7-Acute Cardioversion versus Wait and See trial compared early to delayed cardioversion for patients with recent-onset symptomatic atrial fibrillation (AF). This study aims to evaluate the adherence to a 4-week mobile health (mHealth) prescription to detect AF recurrences after an emergency department visit. METHODS: After the emergency department visit, the 437 included patients, irrespective of randomisation arm (early or delayed cardioversion), were asked to record heart rate and rhythm for 1 min three times daily and in case of symptoms by an electrocardiography-based handheld device for 4 weeks (if available). Adherence was appraised as number of performed measurements per number of recordings asked from the patient and was evaluated for longitudinal adherence consistency. All patients who used the handheld device were included in this subanalysis. RESULTS: 335 patients (58% males; median age 67 (IQR 11) years) were included. The median overall adherence of all patients was 83.3% (IQR 29.9%). The median number of monitoring days was 27 out of 27 (IQR 5), whereas the median number of full monitoring days was 16 out of 27 (IQR 14). Higher age and a previous paroxysm of AF were identified as multivariable adjusted factors associated with adherence. CONCLUSIONS: In this randomised trial, a 4-week mHealth prescription to monitor for AF recurrences after an emergency department visit for recent-onset AF was feasible with 85.7% of patients consistently using the device with at least one measurement per day. Older patients were more adherent. TRIAL REGISTRATION NUMBER: NCT02248753.


Asunto(s)
Fibrilación Atrial , Telemedicina , Masculino , Humanos , Anciano , Femenino , Fibrilación Atrial/terapia , Fibrilación Atrial/tratamiento farmacológico , Antiarrítmicos/uso terapéutico , Frecuencia Cardíaca , Cardioversión Eléctrica , Recurrencia
5.
J Geriatr Cardiol ; 15(9): 567-573, 2018 Sep 28.
Artículo en Inglés | MEDLINE | ID: mdl-30344540

RESUMEN

BACKGROUND: Disturbed circadian rhythm is a potential cause of delirium and is linked to disorganisation of the circadian rhythmicity. Dynamic light (DL) could reset the circadian rhythm by activation of the suprachiasmatic nucleus to prevent delirium. Evidence regarding the effects of light therapy is predominantly focused on psychiatric disorders and circadian rhythm sleep disorders. In this study, we investigated the effect of DL on the total hospital length of stay (LOS) and occurrence of delirium in patients admitted to the Coronary Care Unit (CCU). METHODS: This was a retrospective cohort study. Patients older than 18 years, who were hospitalized longer than 12 h at the CCU and had a total hospital LOS for at least 24 h, were included. Patients were assigned to a room with DL (n = 369) or regular lighting conditions (n = 379). DL was administered at the CCU by two ceiling-mounted light panels delivering light with a colour temperature between 2700 and 6500 degrees Kelvin. Reported outcome data were: total hospital LOS, delirium incidence, consultation of a geriatrician and the amount of prescripted antipsychotics. RESULTS: Between May 2015 and May 2016, data from 748 patients were collected. Baseline characteristics, including risk factors provoking delirium, were equal in both groups. Median total hospital LOS in the DL group was 100.5 (70.8-186.0) and 101.0 (73.0-176.4) h in the control group (P = 0.935). The incidence of delirium in the DL and control group was 5.4% (20/369) and 5.0% (19/379), respectively (P = 0.802). No significant differences between the DL and control group were observed in secondary endpoints. Subgroup analysis based on age and CCU LOS also showed no differences. CONCLUSION: Our study suggests exposure to DL as an early single approach does not result in a reduction of total hospital LOS or reduced incidence of delirium. When delirium was diagnosed, it was associated with poor hospital outcome.

6.
Clin Biochem ; 47(12): 1136-7, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-24863962

RESUMEN

OBJECTIVES: A 61-year-old female presented with non-typical chest pain. High levels of plasma B-type natriuretic peptide (BNP; result 3188 ng/L, reference range<100 ng/L, method Abbott Architect) were found, although she did not exhibit dyspnoea or other clinical symptoms of heart failure. Echocardiography did not provide an explanation for the elevated BNP concentrations. In follow-up, the chest pain complaints disappeared but BNP remained elevated at the same levels. The serum N-terminal proBNP (NT-proBNP) concentration appeared to be normal. This led us to doubt the accuracy of the BNP values. DESIGN AND METHODS: Possible interference was investigated with BNP and NT-proBNP assays from different manufacturers, various (auto)antibody tests, sample dilutions, addition of mouse serum and polyethylene glycol (PEG) precipitation. RESULTS: BNP and NT-proBNP concentrations were normal when measured using all other (NT-pro)BNP immunoassays. Serial dilutions of sample and addition of mouse serum did not alter the results. Specific (auto)antibody tests were negative. However, PEG precipitation showed the presence of a high molecular weight immunoreactive protein. CONCLUSIONS: We report a false positive BNP result possibly caused by a macro-BNP. This macro-BNP was only immunoreactive in the Abbott Architect BNP immunoassay. Clinicians should be aware of analytical interference when BNP results are constantly elevated in the absence of (non)cardiac causes.


Asunto(s)
Péptido Natriurético Encefálico/sangre , Isoformas de Proteínas/sangre , Femenino , Humanos , Persona de Mediana Edad
7.
Heart ; 100(7): 563-8, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24488608

RESUMEN

OBJECTIVE: Current stroke risk schemes need improvement of predictive value in patients with atrial fibrillation. Transoesophageal echocardiography (TEE) may facilitate stroke risk assessment in such patients and guide antithrombotic treatment. METHODS: We randomised 238 patients with non-valvular atrial fibrillation and a moderate stroke risk to aspirin or adjusted vitamin K antagonist therapy after TEE had ruled out thrombogenic features in the atria and aorta. The primary outcome was a composite of stroke, major bleeding, peripheral embolism and all-cause mortality. RESULTS: Mean CHA2DS2-VASc score was 2.1±1.1. The incidences of the composite primary outcome at a mean follow-up of 1.6 years were 3.2% (2.02% per year) in the aspirin group compared to 6.1% (3.84% per year) in the vitamin K antagonists group with an absolute advantage of 2.9 percentage points. Aspirin was non-inferior to vitamin K antagonists (p<0.0001) because the upper limit of the 90% CI did not exceed the 7% absolute difference in event rate between the two treatment arms. CONCLUSIONS: This hypothesis-generating pilot trial has found that TEE may be used for refinement of stroke risk in paroxysmal atrial fibrillation patients. A larger trial is needed to confirm these data. (ClinicalTrials.gov number NTC00224757).


Asunto(s)
Anticoagulantes/uso terapéutico , Aspirina/administración & dosificación , Fibrilación Atrial/diagnóstico por imagen , Ecocardiografía Transesofágica , Fibrinolíticos/administración & dosificación , Accidente Cerebrovascular/prevención & control , Vitamina K/antagonistas & inhibidores , Anciano , Fibrilación Atrial/complicaciones , Femenino , Humanos , Masculino , Proyectos Piloto , Estudios Prospectivos , Medición de Riesgo/métodos , Accidente Cerebrovascular/etiología
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