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This brief report reviews the clinical, procedural, and imaging data of seven patients with p.Arg4810Lys variant of the ring finger protein 213 gene (RNF213)-related peripheral pulmonary arterial stenosis (PPAS) who underwent percutaneous transluminal pulmonary angioplasties (PTPAs) for demographics, clinical presentation, indications for BPA, and procedural and clinical outcomes. During median follow-up of 64.4 months since the first confirmed diagnosis, PTPA was performed for 62 segmental pulmonary arteries with 38 sessions of the procedure in seven patients. Vascular stent placement due to resistance to balloon dilatation and immediate elastic recoil was performed in 48/62 procedures (77%). Except for one death, six patients showed an improvement of dyspnea, five patients a decrease of mean pulmonary arterial pressure (mean 55.5 to 42.7mmHg) and increase of 6-minute walk distance (mean 415.5 to 484.3m). Reperfusion edema occurred in 4 out of 7 patients (57%), which is 6 out of 38 sessions (16%).
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BACKGROUND: Despite the 2015 American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) guideline, many variants of FBN1 gene remain inconclusive. In line with publication of the FBN1-specific variant interpretation guideline by ClinGen in 2022, we reassessed variants of uncertain significance (VUS) in FBN1 gene found in our institution. METHODS: VUS found in the course of FBN1 sequencing between December 2015 and April 2022 were reassessed based on FBN1-specific variant interpretation guideline, review of updated literatures and additional genetic tests including family study and/or RNA study if available. RESULTS: Out of 695 patients who underwent FBN1 sequencing, 61 VUS were found in 69 patients. Among them, 38 VUS in 43 patients (62.3%) were reclassified as pathogenic and likely pathogenic variant ((L)PV), including 20 novel (L)PV. Major causes of reclassification were: (1) gene-specific modification of ACMG/AMP criteria, (2) updated literatures and (3) additional genetic tests. The most important evidence for reclassification was clarification of critical amino acid residues. CONCLUSIONS: After reassessing FBN1 variants according to FBN1-specific guideline and up-to-date database, a significant number of VUS was reclassified. Clinical laboratories are encouraged to perform variant reassessment at regular intervals or when there is a major change in the principle of variant interpretation.
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Testes Genéticos , Variação Genética , Humanos , Variação Genética/genética , Genômica , Análise de Sequência de DNA , Sequenciamento de Nucleotídeos em Larga Escala , Fibrilina-1/genética , Adipocinas/genéticaRESUMO
PURPOSE: Chronic thromboembolic pulmonary disease (CTEPD) can lead to exercise limitations even without right ventricular (RV) dysfunction or pulmonary hypertension at rest. Combining exercise stress echocardiography with cardiopulmonary exercise testing (ESE-CPET) for RV function and pressure changes combined measuring overall function may be useful for CTEPD evaluation. This study aims to investigate CPET and ESE results to elucidate the mechanisms of exercise limitation in mild CTEPD cases. METHODS: Among our CTEPD registry, 50 patients who performed both right heart catheterization data of mild disease (less than 30 mm Hg of mean pulmonary arterial pressure (mPAP)) and ESE-CPET were enrolled. Echocardiography and CPET-derived parameters were compared with hemodynamic parameters measured through right heart catheterization. RESULTS: Peak VO2 (maximal oxygen consumption) was decreased in overall population (71.3 ± 16.3% of predictive value). Peak VO2 during exercise was negatively correlate with mPAP and pulmonary vascular resistance at rest. A substantial increase in RV systolic pressure (RVSP) was observed during exercise (RVSP: pre-exercise 37.2 ± 11.8 mm Hg, postexercise 64.3 ± 24.9 mm Hg, p-value < .001). Furthermore, RV function deteriorated during exercise when compared to the baseline (RV fractional area change: 31.5 ± 10.0% to 37.8 ± 7.0%, p-value < .001; RV global longitudinal strain: -17.1 ± 4.2% to -17.7 ± 3.3%, p-value < .001) even though basal RV function was normal. While an excessive increase in RVSP during exercise was noticed in both groups, dilated RV and RV dysfunction during exercise were demonstrated only in the impaired exercise capacity group. CONCLUSION: CTEPD patients with mild PH or without PH exhibited limited exercise capacity alongside an excessive increase in RVSP during exercise. Importantly, RV dysfunction during exercise was significantly associated with exercise capacity. ESE-CPET could aid in comprehending the primary cause of exercise limitation in these patients.
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Hipertensão Pulmonar , Disfunção Ventricular Direita , Humanos , Ecocardiografia sob Estresse/métodos , Teste de Esforço , Ecocardiografia , Hipertensão Pulmonar/complicações , Hipertensão Pulmonar/diagnóstico , Hemodinâmica , Função Ventricular Direita , Disfunção Ventricular Direita/complicações , Disfunção Ventricular Direita/diagnóstico por imagemRESUMO
BACKGROUND: Recently, a ring-type cuffless blood pressure (BP) measuring device has been developed. This study was a prospective, single arm, first-in-human pivotal trial to evaluate accuracy of BP measurement by the new device. METHODS: The ring-type smart wearable monitoring device measures photoplethysmography signals from the proximal phalanx and transmits the data wirelessly to a connected smartphone. For the BP comparison, a cuff was worn on the arm to check the reference BP by auscultatory method, while the test device was worn on the finger of the opposite arm to measure BP simultaneously. Measurements were repeated for up to three sets each on the left and right arms. The primary outcome measure was mean difference and standard deviation of BP differences between the test device and the reference readings. RESULTS: We obtained 526 sets of systolic BP (SBP) and 513 sets of diastolic BP (DBP) from 89 subjects, with ranges of 80 to 175 mmHg and 43 to 122 mmHg for SBP and DBP, respectively. In sample-wise comparison, the mean difference between the test device and the reference was 0.16 ± 5.90 mmHg (95% limits of agreement [LOA], -11.41, 11.72) in SBP and -0.07 ± 4.68 (95% LOA, -9.26, 9.10) in DBP. The test device showed a strong correlation with the reference for SBP (r = 0.94, P < 0.001) and DBP (r = 0.95, P < 0.001). There were consistent results in subject-wise comparison. CONCLUSION: The new ring-type BP measuring device showed a good correlation for SBP and DBP with minimal bias compared with an auscultatory method.
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Hipertensão , Dispositivos Eletrônicos Vestíveis , Humanos , Pressão Sanguínea/fisiologia , Estudos Prospectivos , Determinação da Pressão Arterial/métodos , Hipertensão/diagnósticoRESUMO
BACKGROUND: There are limited data about predictors of atrial fibrillation (AF) recurrence after totally thoracoscopic ablation (TTA). This study investigated the clinical implication of left atrial appendage emptying velocity (LAAV) in patients undergoing TTA.MethodsâandâResults: Patients who underwent TTA between 2012 and 2015 at a tertiary hospital were prospectively enrolled in this study. LAAV was measured and averaged over five heart beats from preoperative transesophageal echocardiography. The primary outcome was a freedom from recurrent AF or atrial flutter (AFL) detected on 24-h Holter monitoring or an electrocardiogram over a 3-year period after TTA. In all, 129 patients were eligible for analysis in this study. The mean (±SD) patient age was 54.4±8.8 years, and 95.3% were male. During the 3 years after TTA, the overall event-free survival rate was 65.3%. LAAV was an independent predictor of recurrent AF/AFL during the 3-year period after TTA (per 1-cm/s increase, adjusted hazard ratio [aHR] 0.95; 95% confidence interval [CI] 0.91-0.99; P=0.016). Event-free survival was significantly lower among patients with a low LAAV (<20 cm/s; n=21) compared with those with a normal (≥40 cm/s; n=38; aHR 6.11; 95% CI 1.42-26.15; P=0.015) or intermediate (LAAV ≥20 and <40 cm/s; n=70; aHR 2.74, 95% CI 1.29-5.83; P=0.009) LAAV. CONCLUSIONS: In patients with AF, LAAV was significantly associated with the risk of long-term recurrence of AF after TTA.
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Apêndice Atrial , Fibrilação Atrial , Flutter Atrial , Ablação por Cateter , Humanos , Masculino , Pessoa de Meia-Idade , Feminino , Apêndice Atrial/diagnóstico por imagem , Apêndice Atrial/cirurgia , Ecocardiografia Transesofagiana/métodos , Frequência Cardíaca , RecidivaRESUMO
PURPOSE: This regulatory post-marketing surveillance (PMS) was organized to identify the safety and effectiveness of ambrisentan in the Korean population. METHOD: This was an open-label, multi-center PMS conducted from 31 institutions in Korea for 6 years from August 2015 to 2021, to evaluate the use of ambrisentan for the treatment of pulmonary arterial hypertension (PAH). Inclusion criteria are Korean subjects with the World Health Organization functional classification (WHO Fc) II or III PAH who are new users or repeated users with ambrisentan (Volibris®) Tablet 5 or 10 mg per day (age >18 years old). RESULTS: A total of 293 cases were analyzed. The overall incidence of adverse events (AE) was 52.22% and adverse drug reactions (ADR) was 10.92%. Severe AEs occurred in 20.82% of patients. However, only 2 subjects (0.68%) reported serious ADR. The difference in AE incidence was statistically significant for concomitant medications other than PAH medications in the safety analysis and the new users (p = 0.0041 and p = 0.0299, respectively) and elderly population in the repeated users (p = 0.0319). Among the long-term 223 subjects, the WHO Fc II and III were 41.26% and 58.74% before ambrisentan, and changed after treatment to 3.09%, 66.05%, and 30.86% for Fc I/II/III, respectively. 217 of 249 subjects (87.15%) considered their symptoms to have 'improved' after the last administration. CONCLUSION: In real-world practice, ambrisentan demonstrated tolerable safety and favorable effectiveness in PAH patients in Korea. Age and concomitant drug use can affect the occurrence of AE.
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Hipertensão Pulmonar , Fenilpropionatos , Hipertensão Arterial Pulmonar , Idoso , Humanos , Anti-Hipertensivos/efeitos adversos , Hipertensão Pulmonar/tratamento farmacológico , Hipertensão Pulmonar/epidemiologia , Fenilpropionatos/efeitos adversos , Vigilância de Produtos Comercializados , Hipertensão Arterial Pulmonar/induzido quimicamente , Hipertensão Arterial Pulmonar/tratamento farmacológico , República da Coreia/epidemiologia , Resultado do Tratamento , AdultoRESUMO
BACKGROUND: Few studies have examined the incidence of chronic kidney disease (CKD) and metabolic syndrome (MS) and their combined prognostic effects in adult congenital heart disease (ACHD). Our aims were to identify the incidence and prognostic implications of CKD and MS in ACHD. METHODS: This is retrospective cohort study. We included 2,462 ACHD ≥ 20 years of age who were treated at a tertiary hospital in Korea from 2006 to 2018. CKD was defined as an estimated glomerular filtration rate < 60 mL/min/1.73m². MS was diagnosed based on the presence of abnormal metabolic parameters: blood sugar level, obesity, dyslipidemia, and hypertension. The primary outcome was all-cause mortality from 2006 through 2019 using data from the Ministry of the Interior and Safety in Korea. RESULTS: The incidence of CKD and MS in ACHD was 7.6% and 35.9%, respectively. The coexistence rate of CKD and MS was 4.6%. Although MS was not independently associated with mortality in the multiple analysis (adjusted hazard ratio [aHR], 1.07; 95% confidence interval [CI], 0.79-1.46), it was closely related to the presence of CKD (adjusted odds ratio, 2.62; 95% CI, 1.89-3.63). ACHD patients with CKD had a significantly increased risk of mortality compared with those without CKD (aHR, 2.84; 95% CI, 2.00-4.04). CONCLUSIONS: In patients with ACHD, the distribution of MS is higher, and both MS and its components were associated with CKD. Given the CKD was independently associated with mortality, close monitoring and management of renal dysfunction and metabolic parameters in ACHD patients is needed.
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Cardiopatias Congênitas , Síndrome Metabólica , Insuficiência Renal Crônica , Adulto , Humanos , Síndrome Metabólica/complicações , Síndrome Metabólica/diagnóstico , Síndrome Metabólica/epidemiologia , Estudos Retrospectivos , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Prognóstico , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/diagnóstico , Taxa de Filtração Glomerular , Fatores de RiscoRESUMO
INTRODUCTION: This study evaluated the effect of music intervention on the anxiety and stress responses of patients who underwent an interventional cardiac catheterisation. METHODS: The study design was a pre- and post-test randomised controlled trial that included 94 patients who underwent a transcatheter atrial septal defect closure. Patients were allocated to receive either music intervention (n = 47) or usual care (n = 47) during the interventional cardiac catheterisation. Music intervention effectiveness was examined in terms of anxiety, salivary cortisol level, and heart rate variability. RESULTS: The average age of participants was 45.40 years (±16.04) in the experimental group and 47.26 years (±13.83) in the control group. Two-thirds (66.0%) of the participants in each group were women. State anxiety (F = 31.42, p < 0.001), anxiety-numerical rating scale (F = 20.08, p < 0.001), salivary cortisol levels (F = 4.98, p = 0.021), and low-frequency component/high-frequency component ratio (F = 17.31, p < 0.001) in the experimental group were significantly reduced compared with those in the control group at the end of the music intervention. CONCLUSION: This study provides practical evidence of a reduction in anxiety and stress response from music intervention preceding an interventional cardiac catheterisation, indicating that this intervention should be considered in clinical management.
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Musicoterapia , Música , Humanos , Adulto , Feminino , Pessoa de Meia-Idade , Masculino , Hidrocortisona , Ansiedade/etiologia , Ansiedade/terapia , Cateterismo Cardíaco , Projetos de PesquisaRESUMO
BACKGROUND: Few studies used nationwide data to assess the survival rates (SRs) and death risk for idiopathic pulmonary arterial hypertension (IPAH; ICD-10 I27.0) in Korea. METHODS: IPAH data (N = 9,017; female:male = 6:4) were collected from the National Health Insurance Service in Korea, from 2006 through 2017. The data consisted of primary diagnoses related to IPAH. The Kaplan-Meier method and Cox proportional-hazards analyses were carried out. RESULTS: The mean age was 62.3 (± 19.4) years, 64.2 (± 18.9) years in female and 59.4 (± 19.8) years in male (P < 0.001). The one-, three-, five- and 10-year SRs for IPAH were 89.0%, 79.8%, 72.3% and 57.0%, respectively. The adjusted hazard ratio (HR) of IPAH was 1.81 (95% confidence interval [CI], 1.26-2.59) in 60-69 age group, 3.42 (95% CI, 2.40-4.87) in 70-79, and 7.73 (95% CI, 5.43-11.0) in 80s. Other risk factors were male, low-income status, diabetes, myocardial infarction, atrial fibrillation, ischemic stroke, hemorrhagic stroke, and malignant neoplasm. CONCLUSION: The 10-year SR of IPAH was 57% in Korea. The HR for IPAH was significantly high in patients with older age and other risk factors.
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Hipertensão Pulmonar Primária Familiar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Fatores de Risco , Taxa de SobrevidaRESUMO
BACKGROUND: Reduced exercise capacity reflects symptom severity and clinical outcomes in patients with hypertrophic cardiomyopathy (HCM). The present study aimed to identify factors that may affect exercise capacity in patients with HCM. METHODS: In 294 patients with HCM and preserved left ventricular (LV) ejection fraction, we compared peak oxygen consumption (peak VO2) evaluated by cardiopulmonary exercise testing as a representative parameter of exercise tolerance with clinical and laboratory data, including N-terminal pro-hormone of brain natriuretic peptide (NT-proBNP), diastolic parameters on echocardiography, and the grade of myocardial fibrosis on cardiac magnetic resonance imaging (CMR). RESULTS: Median peak VO2, was 29.0 mL/kg/min (interquartile range [IQR], 25.0-34.0). Age (estimated ß = -0.140, P < 0.001), female sex (ß = -5.362, P < 0.001), NT-proBNP (ß = -1.256, P < 0.001), and E/e' ratio on echocardiography (ß = -0.209, P = 0.019) were significantly associated with exercise capacity. Peak VO2 was not associated with the amount of myocardial fibrosis on CMR (mean of late gadolinium enhancement 12.25 ± 9.67%LV). CONCLUSION: Decreased exercise capacity was associated with age, female sex, increased NT-proBNP level, and E/e' ratio on echocardiography. Hemodynamic changes and increased filling pressure on echocardiography should be monitored in this population for improved outcomes.
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Cardiomiopatia Hipertrófica , Tolerância ao Exercício , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Meios de Contraste , Teste de Esforço , Feminino , Gadolínio , Humanos , Volume SistólicoRESUMO
BACKGROUND: The number of adults with congenital heart disease (ACHD) with atrial fibrillation (AF) is expected to increase. We sought to assess the impact of AF on survival in Korean ACHD. METHODS: Records of AF in ACHD were extracted from the records of the Korea National Health Insurance Service from 2006 through 2015. Multiple Cox proportional hazards analyses were carried out after adjustment for age, sex, income level, AF, and comorbidities. Survival rates (SRs) with and without AF were compared. The death records from 2006 through 2016 were included. RESULTS: A total of 3,999 ACHD had AF (51.4% were male) and 62,691 ACHD did not have AF (43.5% were male); the proportion of ACHD who were 60 years and older was 53.0% and 27.0% in those with and without AF, respectively (P < 0.001). The age-standardized incidence rate for AF was 1,842.0 persons per 100,000 people in the Korean general population from 2006 through 2015. For AF in ACHD, it was 5,996.4 persons per 100,000 ACHD during the same period, which was higher than that in the general population (P < 0.001). Significantly higher proportion of death (20.9%) occurred in ACHD with AF than without AF (8.3%) (P < 0.001). The adjusted hazard ratio for AF of death in ACHD was 1.39 (95% confidence interval, 1.29-1.50). The ten-year SR of ACHD with AF was 69.7% whereas it was 87.5% in non-AF (P < 0.001). CONCLUSION: In ACHD, AF occurs more frequently and has a worse prognosis than seen in the non-valvular general population in Korea. AF is associated with increased death in ACHD, especially with aging.
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Fibrilação Atrial/mortalidade , Cardiopatias Congênitas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Fibrilação Atrial/complicações , Fibrilação Atrial/epidemiologia , Fibrilação Atrial/patologia , Comorbidade , Bases de Dados Factuais , Feminino , Cardiopatias Congênitas/complicações , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Prognóstico , Modelos de Riscos Proporcionais , República da Coreia/epidemiologia , Estudos Retrospectivos , Análise de Sobrevida , Adulto JovemRESUMO
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is thought to be associated with microvascular dysfunction. Adenosine stress-perfusion cardiovascular magnetic resonance imaging (CMR) is a sensitive method for assessing microvascular perfusion abnormalities. We evaluated the prevalence and clinical characteristics of HCM patients with adenosine-induced perfusion defects on CMR. METHODS: Among 189 consecutive patients with HCM who underwent adenosine-stress perfusion CMR, 115 patients who had clinical, echocardiography, 24-h Holter monitoring and treadmill exercise test data were analyzed. We calculated myocardial perfusion ratio index from the intensity-over-time curve to quantify perfusion defects. The presence and extent of the stress-induced perfusion defect were compared with clinical characteristics, presence and extent of late gadolinium enhancement (LGE), left ventricular (LV) mass index and volume, presence of non-sustained ventricular tachycardia (NSVT) and results of treadmill exercise test. RESULTS: The mean age of enrolled patients was 51.8 ± 11.3 years. Most patients were asymptomatic except 25 subjects presented with New York Heart Association Class II dyspnea and 16 patients with atypical non-exertional chest discomfort. LGE was present in 103 (89.6%) subjects. Adenosine stress-induced perfusion defects were present in 48 (42%) subjects. None of the perfusion defects corresponded with a single or multiple coronary artery territories, showing a multiple patchy pattern in 24 (50.0%), a concentric subendocardial pattern in 20 subjects (41.7%), and as a single blot-like defect in the remaining 4 (8.3%). A perfusion defect was associated with NSVT, LV apical aneurysm, higher LV mass index, and higher LGE volume on univariate analysis. Multivariate analysis revealed female gender (P = 0.008), presence of apical aneurysm and NSVT (P = 0.036 and 0.047, respectively), and LV mass index (P = 0.022) to be independently associated with adenosine stress-induced perfusion defects. CONCLUSIONS: In patients with HCM, adenosine-stress perfusion defects on CMR are present in more than 40% of subjects. This perfusion defect is associated with NSVT, higher LV mass index, and apical aneurysms. The prognostic value of this finding needs further elucidation.
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Adenosina/administração & dosagem , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Circulação Coronária , Imagem Cinética por Ressonância Magnética , Microcirculação , Imagem de Perfusão do Miocárdio/métodos , Vasodilatadores/administração & dosagem , Cardiomiopatia Hipertrófica/epidemiologia , Cardiomiopatia Hipertrófica/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prevalência , Estudos Prospectivos , Fatores de Risco , Seul/epidemiologia , Função Ventricular Esquerda , Remodelação VentricularRESUMO
BACKGROUND: With an increasing clinical importance of the treatment of the heart failure (HF) with preserved ejection fraction (HFpEF), it is important to be certain of the diagnosis of HF. We investigated global and regional left ventricular (LV) strains using speckle tracking echocardiography (STE) in patients with HFpEF and compared those parameters with that of patients with hypertension and normal subjects. METHODS: Peak longitudinal, circumferential and radial strains were assessed globally and regionally for each study groups using STE. Diastolic strain rate was also determined. RESULTS: There were 50 patients in HFpEF group, 56 patients in hypertension group and 46 age-matched normal subjects. In patients with HFpEF, global peak longitudinal, circumferential and radial strain and strain rate were reduced compared to both hypertension patients and normal controls (- 15.5 ± 5.3 vs - 17.7 ± 3.1 and - 19.9 ± 2.0; - 9.7 ± 2.2 vs - 19.3 ± 3.1 and - 20.5 ± 3.3; 17.7 ± 8.2 vs 38.4 ± 12.4 and 43.6 ± 11.9, respectively, P < 0.001, for all). The diagnostic performance of global circumferential strain to predict the HFpEF was greatest among strain parameters (area under the curve = 0.997). CONCLUSIONS: In the speckle tracking echocardiography, impaired peak global strain and homogeneously reduced regional strain was observed in HFpEF patients compared to the hypertension patients and normal subjects in decreasing order. This can provide early information on the initiation of LV deformation of HFpEF in patients with hypertension or normal subjects.
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Insuficiência Cardíaca/fisiopatologia , Ventrículos do Coração/diagnóstico por imagem , Hipertensão/fisiopatologia , Contração Miocárdica/fisiologia , Volume Sistólico/fisiologia , Função Ventricular Esquerda/fisiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Diástole , Feminino , Insuficiência Cardíaca/diagnóstico , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
BACKGROUND: Significant aortic regurgitation (AR) is sometimes accompanied by regional wall motion abnormalities (RWMA) during exercise stress echocardiography. The aim of this study was to estimate the association between RWMA after exercise and in the presence of significant AR in patients with coronary artery disease (CAD) or volume overload and to predict the eventual need for aortic valve replacement (AVR). METHODS AND RESULTS: We retrospectively reviewed 182 patients with significant AR who underwent exercise echocardiography. In addition, we investigated patients with AR who underwent coronary angiography (CAG) or coronary computed tomography angiography (CCTA) and were diagnosed with CAD. The presence of RWMA after exercise was defined as newly developed RWMA after exercise and included all changes in wall motion. Patients were divided into two groups according to the presence of RWMA after exercise: the RWMA group (n = 42) and non-RWMA group (n = 140). In the RWMA group, 31 patients (73.8%) underwent coronary artery evaluation by CAG or CCTA. Only two patients in the RWMA group were diagnosed with current CAD and underwent percutaneous coronary intervention. Patients with RWMA were older (61.6 ± 10.8 vs 52.0 ± 13.7 years, P < .001), had more severe AR (54.8% vs 32.9%), and underwent AVR more frequently (40.5% vs 14.3%, P = .001) than patients without RWMA. METs (odds ratio [OR], 0.796; P = .019), difference between rest and postexercise left ventricular end-diastolic volume (OR, 0.967; P = .001), and the difference between pre- and postexercise left ventricular end-systolic volume (OR, 1.113; P < .001) were identified as independent factors associated with RWMA after exercise according to multivariable logistic regression analysis. The majority of wall motion changes were seen in the lateral and inferior segments, and the locations of wall motion changes were relatively consistent with the direction of the AR jet. The relationship between RWMA after exercise and time to AVR was investigated by simple linear regression (hazard ratio [HR], 3.402; P < .001). After adjusting for baseline parameters of diastolic blood pressure, left ventricular end-systolic dimension (LVESD), aorta size, deceleration time, and METs, the presence of RWMA after exercise was not predictive of time to AVR (HR, 1.106; P = .81). On the other hand, without forcible entry of RWMA after exercise, LVESD (HR, 1.119; P < .001) and METs (HR, 0.828; P = .006) independently predicted the eventual need for AVR as an outcome. CONCLUSION: The degree of change in wall motion from rest to exercise in those with significant AR was not correlated with CAD, but was correlated with the severity of volume overload and exercise-induced preload changes, as well as the direction of the AR jet. In addition, RWMA after exercise had no role in predicting the need for AVR.
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Insuficiência da Valva Aórtica , Implante de Prótese de Valva Cardíaca , Insuficiência da Valva Aórtica/diagnóstico por imagem , Insuficiência da Valva Aórtica/cirurgia , Humanos , Estudos Retrospectivos , Volume Sistólico , Função Ventricular EsquerdaRESUMO
BACKGROUND: The association between a change in diastolic function (DF) and long-term clinical outcomes in patients undergoing percutaneous coronary intervention (PCI) is unknown. The aim of this study was to investigate the prognostic effect of changes in diastolic dysfunction in patients undergoing PCI.MethodsâandâResults:Consecutive patients who underwent PCI and echocardiography before and after revascularization were prospectively included. Major adverse cardiac event (MACE) was defined as a composite of cardiac death, myocardial infarction, and repeat revascularization. A total of 1,235 patients were identified. Baseline diastolic dysfunction was present in 1,033 patients (83.6%). At follow-up echocardiography, DF had worsened in 219 (17.8%) patients and was unchanged in 623 patients (50.4%). The risk of MACE was significantly higher in the worsened DF group compared with the unchanged DF group (adjusted hazard ratio [aHR]: 2.15; 95% confidence interval [CI]: 1.59 to 2.90; P<0.001) and the improved or normal DF group (aHR: 2.20; 95% CI, 1.49 to 3.27; P<0.001). Patients with worsened DF consistently had a higher risk of MACE in various subgroups, especially irrespective of left ventricular systolic function. CONCLUSIONS: Aggravation of DF was independently associated with an increased risk of MACE in patients undergoing PCI. Evaluating changes in DF after PCI is a simple but useful method for predicting long-term clinical outcomes.
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Doença da Artéria Coronariana/terapia , Intervenção Coronária Percutânea , Volume Sistólico , Disfunção Ventricular Esquerda/fisiopatologia , Função Ventricular Esquerda , Idoso , Causas de Morte , Doença da Artéria Coronariana/diagnóstico por imagem , Doença da Artéria Coronariana/mortalidade , Doença da Artéria Coronariana/fisiopatologia , Diástole , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/etiologia , Intervenção Coronária Percutânea/efeitos adversos , Intervenção Coronária Percutânea/mortalidade , Estudos Prospectivos , Retratamento , Medição de Risco , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/mortalidadeRESUMO
Identification of the etiology of pericardial disease is challenging because the accessibility to pericardial fluid and tissue is limited and there is a relatively low yield of fluid and tissue analysis. Pericardial disease is associated with various systemic diseases and is frequently a first manifestation of other systemic diseases. Detecting the cause of pericarditis and minimizing the subsequent inflammatory process can possibly prevent long-term complications. PURPOSE OF REVIEW: To review the clinical utility of [18F]-2-deoxy-2-fluoro-D-glucose positron emission tomography/computed tomography ([18F]FDG-PET/CT) in the diagnosis and treatment of pericardial disease. RECENT FINDINGS: [18F]FDG-PET/CT can visualize the hypermetabolic tissues of both malignancy and inflammation. Distribution of [18F]FDG-PET/CT uptake can provide information for neoplastic disease. If malignancy is ruled out, high uptake of pericardium is associated with active inflammation of the pericardium, and thus response to anti-inflammatory agents can also be predicted with [18F]FDG-PET/CT imaging. [18F]FDG-PET/CT can be helpful for diagnosing and establishing prognosis and for planning for anti-inflammatory treatment in pericardial disease.
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Pericardite/diagnóstico por imagem , Pericardite/terapia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Fluordesoxiglucose F18 , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/patologia , Neoplasias Cardíacas/secundário , Humanos , Inflamação/diagnóstico por imagem , Inflamação/terapia , Pericardite/etiologia , Prognóstico , Compostos RadiofarmacêuticosRESUMO
Singleton-Merten syndrome (SMS) is an autosomal-dominant multi-system disorder characterized by dental dysplasia, aortic calcification, skeletal abnormalities, glaucoma, psoriasis, and other conditions. Despite an apparent autosomal-dominant pattern of inheritance, the genetic background of SMS and information about its phenotypic heterogeneity remain unknown. Recently, we found a family affected by glaucoma, aortic calcification, and skeletal abnormalities. Unlike subjects with classic SMS, affected individuals showed normal dentition, suggesting atypical SMS. To identify genetic causes of the disease, we performed exome sequencing in this family and identified a variant (c.1118A>C [p.Glu373Ala]) of DDX58, whose protein product is also known as RIG-I. Further analysis of DDX58 in 100 individuals with congenital glaucoma identified another variant (c.803G>T [p.Cys268Phe]) in a family who harbored neither dental anomalies nor aortic calcification but who suffered from glaucoma and skeletal abnormalities. Cys268 and Glu373 residues of DDX58 belong to ATP-binding motifs I and II, respectively, and these residues are predicted to be located closer to the ADP and RNA molecules than other nonpathogenic missense variants by protein structure analysis. Functional assays revealed that DDX58 alterations confer constitutive activation and thus lead to increased interferon (IFN) activity and IFN-stimulated gene expression. In addition, when we transduced primary human trabecular meshwork cells with c.803G>T (p.Cys268Phe) and c.1118A>C (p.Glu373Ala) mutants, cytopathic effects and a significant decrease in cell number were observed. Taken together, our results demonstrate that DDX58 mutations cause atypical SMS manifesting with variable expression of glaucoma, aortic calcification, and skeletal abnormalities without dental anomalies.
Assuntos
Doenças da Aorta/genética , RNA Helicases DEAD-box/genética , Hipoplasia do Esmalte Dentário/genética , Glaucoma/genética , Metacarpo/anormalidades , Modelos Moleculares , Doenças Musculares/genética , Odontodisplasia/genética , Osteoporose/genética , Calcificação Vascular/genética , Adulto , Doenças da Aorta/patologia , Sequência de Bases , Células Cultivadas , Pré-Escolar , Proteína DEAD-box 58 , RNA Helicases DEAD-box/química , Hipoplasia do Esmalte Dentário/patologia , Exoma/genética , Feminino , Genes Dominantes/genética , Humanos , Masculino , Metacarpo/patologia , Dados de Sequência Molecular , Doenças Musculares/patologia , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Anormalidades Musculoesqueléticas/genética , Mutação de Sentido Incorreto/genética , Odontodisplasia/diagnóstico por imagem , Odontodisplasia/patologia , Osteoporose/patologia , Linhagem , Polimorfismo de Nucleotídeo Único/genética , Radiografia , Receptores Imunológicos , Análise de Sequência de DNA , Calcificação Vascular/patologiaRESUMO
BACKGROUND: It has been reported that left ventricular (LV) myocardial strain and late gadolinium enhancement (LGE) on cardiovascular magnetic resonance (CMR) imaging have prognostic value in patients with heart failure (HF). However, previous studies included patients with various systolic functions. This study aimed to investigate the prognostic value of LV myocardial strain and LGE on CMR imaging in patients with idiopathic dilated cardiomyopathy (DCM) with reduced ejection fraction (EF < 40%). METHODS: From a prospectively followed cohort who underwent CMR between November 2008 and December 2015, subjects with LV EF < 40% and a diagnosis of idiopathic DCM were eligible for this study. The CMR images were analyzed for LV and right ventricular (RV) function, presence and extent of LGE, and LV myocardial strain. The primary outcome was a composite of all-cause death and heart transplantation. The secondary outcome was hospitalization for HF. RESULTS: A total of 172 patients were included, in whom mean LV EF was 23.7 ± 7.9% (EF 30-40% n = 47; EF < 30% n = 125). During a median follow-up of 47 months, the primary outcome occurred in 43 patients (16 heart transplantations, 29 all-cause deaths), and there were 41 hospitalizations for HF. Univariate Cox proportional hazard regression analysis showed that mean arterial pressure, serum sodium concentration, log of plasma NT-proBNP level, and presence of LGE (HR 2.277, 95% CI: 1.221-4.246) were significantly associated with the primary outcome. However, LV strain had no significant association (HR 1.048, 95% CI: 0.945-1.163). Multivariable analysis showed that presence of LGE (HR 4.73, 95% CI: 1.11-20.12) and serum sodium (HR 0.823, 95% CI: 0.762-0.887) were independently associated with the primary outcome. CONCLUSIONS: LGE in CMR imaging was a good predictor of adverse outcomes for patients with idiopathic DCM and reduced EF. Identification of LGE could thus improve risk stratification in high-risk patients. LV strain had no significant prognostic value in patients with moderate to severe systolic dysfunction.
Assuntos
Cardiomiopatia Dilatada/diagnóstico por imagem , Meios de Contraste/administração & dosagem , Insuficiência Cardíaca/diagnóstico por imagem , Imagem Cinética por Ressonância Magnética , Contração Miocárdica , Compostos Organometálicos/administração & dosagem , Volume Sistólico , Disfunção Ventricular Esquerda/diagnóstico por imagem , Função Ventricular Esquerda , Adulto , Idoso , Fenômenos Biomecânicos , Cardiomiopatia Dilatada/mortalidade , Cardiomiopatia Dilatada/fisiopatologia , Cardiomiopatia Dilatada/cirurgia , Feminino , Insuficiência Cardíaca/mortalidade , Insuficiência Cardíaca/fisiopatologia , Insuficiência Cardíaca/cirurgia , Transplante de Coração , Hospitalização , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Estudos Prospectivos , Reprodutibilidade dos Testes , Fatores de Risco , Disfunção Ventricular Esquerda/mortalidade , Disfunção Ventricular Esquerda/fisiopatologia , Disfunção Ventricular Esquerda/cirurgia , Função Ventricular DireitaRESUMO
BACKGROUND: The treatment of choice for chronic thromboembolic pulmonary hypertension (CTEPH) is pulmonary endarterectomy (PEA). However, not all patients are eligible for PEA, and some patients experience recurrence of pulmonary hypertension even after PEA. METHODS: Patients who underwent balloon pulmonary angioplasty (BPA) between December 2015 and April 2017 were enrolled from the Samsung Medical Center CTEPH registry. Enrolled patients underwent right heart catheterization, echocardiography, and 6-minute walk distance (6MWD) at baseline, 4 and 24 weeks after their first BPA session. We compared clinical and hemodynamic parameters at the baseline and last BPA session. RESULTS: Fifty-two BPA sessions were performed in 15 patients, six of whom had a history of PEA. BPA resulted in improvements in World Health Organization (WHO) functional class (2.9 ± 0.8 to 1.7 ± 0.6, P = 0.002), 6MWD (387.0 ± 86.4 to 453.4 ± 64.8 m, P = 0.01), tricuspid annular plane systolic excursion (14.1 ± 3.6 to 15.6 ± 4.3 mm, P = 0.03) and hemodynamics, including a decline in mean pulmonary artery pressure (41.1 ± 13.1 to 32.1 ± 9.5 mmHg, P < 0.001) and in pulmonary vascular resistance (607.4 ± 452.3 to 406.7 ± 265.4 dyne.sec.cmâ»5, P = 0.01) but not in cardiac index (2.94 ± 0.79 to 2.96 ± 0.93 L/min/m², P = 0.92). Six cases of complications were recorded, including two cases of reperfusion injury. CONCLUSION: BPA might be a safe and effective treatment strategy for both inoperable CTEPH patients and patients with residual pulmonary hypertension after PEA.
Assuntos
Angioplastia com Balão , Hemodinâmica/fisiologia , Hipertensão Pulmonar/diagnóstico , Embolia Pulmonar/terapia , Adulto , Idoso , Angiografia , Angioplastia com Balão/efeitos adversos , Povo Asiático , Pressão Sanguínea , Doença Crônica , Ecocardiografia , Endarterectomia , Feminino , Humanos , Hipertensão Pulmonar/complicações , Masculino , Pessoa de Meia-Idade , Artéria Pulmonar/fisiologia , Artéria Pulmonar/cirurgia , Embolia Pulmonar/complicações , Traumatismo por Reperfusão/etiologia , República da Coreia , Resultado do TratamentoRESUMO
BACKGROUND: The technique of tissue tracking with balanced steady-state free precession cine sequences was introduced, and allowed myocardial strain to be derived directly, offering advantages over traditional myocardial tagging. The aim of this study was to evaluate the correlation between reverse remodeling as an outcome and left ventricular strain using cardiovascular magnetic resonance imaging (CMR) tissue tracking, and to evaluate prediction of reverse remodeling by myocardial deformation in patients with severe aortic stenosis (AS). METHODS: We enrolled 63 patients with severe AS and normal left ventricular (LV) systolic function (ejection fraction > 60%), who underwent both CMR and transthoracic echocardiography (Echo) before surgical aortic valve replacement (AVR). CMR at 1.5 T, including non and post-contrast T1 mapping for extracellular volume (ECV), was carried out to define the amount of myocardial fibrosis. Cardiac Performance Analysis software was used to derive myocardial deformation as strain parameters from three short-axis cine views (basal, mid and apical levels) and apical 2, 3, and 4 chamber views. The primary outcome was reverse remodeling, as evaluated by regression of left ventricular mass index (LVMI). RESULTS: Median follow-up was 28.8 months (interquartile range 11.3-38.3 months). As evaluated by LVMI between baseline and follow-up, mass regression was significantly improved after AVR (baseline 145.9 ± 37.0 [g/m2] vs. follow-up 97.7 ± 22.2[g/m2], p < 0.001). Statistically significant Pearson's correlations with LVMI regression were observed for longitudinal global strain (r = -0.461, p < 0.001), radial strain (r = 0.391, p = 0.002), and circumferential strain (r = -0.334, p = 0.009). A simple linear regression analysis showed that all strain parameters could predict the amount of LVMI regression (P < 0.05), as well as non-contrast T1 value (beta = -0.314, p < 0.001) and ECV (beta = -2.546, p = 0.038). However, ECV had the lowest predictive power (multiple r2 = 0.071). Multiple regression analysis showed strain could independently predict the amount of LVMI regression and the longitudinal global strain (beta = -3.335, p < 0.001). CONCLUSION: Longitudinal global strain measured by CMR tissue tracking as a technique was correlated with reverse remodeling as LVMI regression and was predictive of this outcome. As a simple and practical method, tissue tracking is promising to assess strain and predict reverse remodeling in severe AS, especially in patients with suboptimal Echo image quality.