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Background@#This study was conducted to provide basic data to explore strategies for promoting physical activity differentiated according to the gender of the elderly with osteoarthritis. @*Methods@#This study was conducted using data from the Korea National Health and Nutrition Examination Survey (2014-2021). Those aged 65 or older and diagnosed with osteoarthritis were included, and a total of 2,915 people were analyzed (male=553 and female=2,362). The level of ph guidelines presented by the World Health Organization. Less than 600 metabolic equivalent of tasks (METs)-minutes/week or no physical activity was classified as light-intensity physical activity, and if METs-min/week was 600 or more, it was classified as moderate-to-vigorous physical activity. The data analyzed using Rao-Scott chi-square and multiple logistic regression ysical activity was calculated according to the Global Physical Activity Questionnaire analysisanalyses to account for the complex sampling design. @*Results@#In the elderly male with osteoarthritis, the level of physical activity was low in the case of high age, no spouse, low education level, and poor subjective health condition. In the elderly women, age, residential area, and subjective health status were found to be significant influencing factors. @*Conclusions@#Differences in influencing factors by gender should be considered in the physical activity improvement intervention program for older adults with osteoarthritis. Furthermore, intervention studies must examine the effects of gender-specific programs on physical activity of older adults with osteoarthritis.
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Background and Objectives@#Protein-losing enteropathy (PLE) is a devastating complication after the Fontan operation. This study aimed to investigate the clinical characteristics, treatment response, and outcomes of Fontan-associated PLE. @*Methods@#We reviewed the medical records of 38 patients with Fontan-associated PLE from 1992 to 2018 in 2 institutions in Korea. @*Results@#PLE occurred in 4.6% of the total 832 patients after the Fontan operation. After a mean period of 7.7 years after Fontan operation, PLE was diagnosed at a mean age of 11.6years. The mean follow-up period was 8.9 years. The survival rates were 81.6% at 5 years and 76.5% at 10 years. In the multivariate analysis, New York Heart Association Functional classification III or IV (p=0.002), low aortic oxygen saturation (<90%) (p=0.003), and ventricular dysfunction (p=0.032) at the time of PLE diagnosis were found as predictors of mortality. PLE was resolved in 10 of the 38 patients after treatment. Among medical managements, an initial heparin response was associated with survival (p=0.043). Heparin treatment resulted in resolution in 4 patients. We found no evidence on pulmonary vasodilator therapy alone. PLE was also resolved after surgical Fontan fenestration (2/6), aortopulmonary collateral ligation (1/1), and transplantation (1/1). @*Conclusions@#The survival rate of patients with Fontan-associated PLE has improved with the advancement of conservative care. Although there is no definitive method, some treatments led to the resolution of PLE in one-fourth of the patients. Further investigations are needed to develop the best prevention and therapeutic strategies for PLE.
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Background and Objectives@#While diuretics are sometimes used in atrial septal defect (ASD) treatment, their effect on ASD size reduction remains unclear. We aimed to evaluate the efficacy of diuretics in ASD size reduction in pediatric patients. @*Methods@#We retrospectively reviewed the medical records of patients with secundum ASD (size ≥10 mm), between 2005 and 2019. Patients were divided into two groups based on the diuretic administration. @*Results@#Of the 73 enrolled patients, 40 received diuretics. The initial age at ASD diagnosis (2.8±1.7 vs. 2.5±2.0 years, p=0.526) and follow-up duration (22.3±11.4 vs. 18.7±13.2 months, p=0.224) were not significantly different between the groups. The ASD diameter at the initial diagnosis (13.7±2.0 vs. 13.5±3.4 mm, p=0.761) and the indexed ASD diameter (25.5±5.9 vs. 26.9±10.3 mm/m2 , p=0.493) were also not significantly different between two groups. The ASD diameter significantly increased in the non-diuretic group during follow-up (0.0±2.9 vs. +2.6±2.0 mm, p<0.001). The indexed ASD diameter significantly decreased in the diuretic group during follow-up (−5.7±6.5 vs. +0.2±3.9 mm/m 2 , p<0.001). In the linear mixed model analysis, diuretic use was associated with ASD diameter decrease (p<0.001) and indexed ASD diameter reduction (p<0.001) over time. Device closure was more frequently performed in the diuretic (75.0%) than in the non-diuretic group (39.4%). @*Conclusions@#Patients receiving diuretics are less likely to undergo surgery. The diuretics administration may be associated with the use of smaller ASD devices for transcatheter treatment through ASD size reduction.
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Background and Objectives@#We reviewed the long-term outcomes after tetralogy of Fallot (TOF) repair with trans-annular incision; and evaluated the effectiveness of pulmonary valve replacement (PVR) on outcomes. @*Methods@#This was a retrospective review of clinical outcomes of 180 of 196 TOF patients who underwent total correction with trans-annular incision from 1991 to 1997 (PVR group: 81; non-PVR group: 99). @*Results@#The median age of the patients was 14.0 months (interquartile range [IQR], 10.7–19.8 months) at TOF repair. Ten in-hospital deaths (5.1%) occurred. During the followup, 81 patients underwent PVR at the median age of 13.5 years (IQR, 11.2–17.1 years). The patients in PVR group showed better outcomes than non-PVR group in overall survival rate (100% in PVR vs. 88.7% in non-PVR, p=0.007), in all adverse events (arrhythmia, neurologic complications, 95.5% in PVR vs. 74.6% in non-PVR, p=0.024) at 20 years. Age at TOF repair younger than 1 year (hazard ratio [HR], 2.265; p=0.01) and previous shunt history (HR, 2.195; p=0.008) were predictive for requiring PVR. During follow-up, 10 late deaths (5 sudden deaths) occurred in the non-PVR group, mainly due to ventricular arrhythmia and right ventricular failure; there was 1 late death (not a sudden death) in the PVR group. @*Conclusions@#Long-term survival after repair of TOF with trans-annular incision were acceptable. However, arrhythmias were frequently observed during 20 years of follow-up. The patient age <1 year at the time of TOF repair and shunt implantation prior to TOF repair were predictive factors for requiring PVR.
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Background and Objectives@#We reviewed the long-term outcomes after tetralogy of Fallot (TOF) repair with trans-annular incision; and evaluated the effectiveness of pulmonary valve replacement (PVR) on outcomes. @*Methods@#This was a retrospective review of clinical outcomes of 180 of 196 TOF patients who underwent total correction with trans-annular incision from 1991 to 1997 (PVR group: 81; non-PVR group: 99). @*Results@#The median age of the patients was 14.0 months (interquartile range [IQR], 10.7–19.8 months) at TOF repair. Ten in-hospital deaths (5.1%) occurred. During the followup, 81 patients underwent PVR at the median age of 13.5 years (IQR, 11.2–17.1 years). The patients in PVR group showed better outcomes than non-PVR group in overall survival rate (100% in PVR vs. 88.7% in non-PVR, p=0.007), in all adverse events (arrhythmia, neurologic complications, 95.5% in PVR vs. 74.6% in non-PVR, p=0.024) at 20 years. Age at TOF repair younger than 1 year (hazard ratio [HR], 2.265; p=0.01) and previous shunt history (HR, 2.195; p=0.008) were predictive for requiring PVR. During follow-up, 10 late deaths (5 sudden deaths) occurred in the non-PVR group, mainly due to ventricular arrhythmia and right ventricular failure; there was 1 late death (not a sudden death) in the PVR group. @*Conclusions@#Long-term survival after repair of TOF with trans-annular incision were acceptable. However, arrhythmias were frequently observed during 20 years of follow-up. The patient age <1 year at the time of TOF repair and shunt implantation prior to TOF repair were predictive factors for requiring PVR.
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Background@#Despite improvements in palliative care for critically ill children, the characteristics of end-of-life care for pediatric patients with advanced heart disease are not well-known. We investigated these characteristics among hospitalized children with advanced heart disease in a tertiary referral center in Korea. @*Methods@#We retrospectively reviewed the records of 136 patients with advanced heart disease who died in our pediatric department from January 2006 through December 2013. @*Results@#The median age of patients at death was 10.0 months (range 1 day–28.3 years). The median duration of the final hospitalization was 16.5 days (range 1–690 days). Most patients (94.1%) died in the intensive care unit and had received mechanical ventilation (89.7%) and inotropic agents (91.2%) within 24 hours of death. The parents of 74 patients (54.4%) had an end-of-life care discussion with their physician, and the length of stay of these patients in the intensive care unit and in hospital was longer. Of the 90 patients who had been hospitalized for 7 days or more, the parents of 54 patients (60%) had a documented end-of-life care discussion. The time interval from the end-of-life care discussion to death was 3 days or less for 25 patients. @*Conclusion@#Children dying of advanced heart disease receive intensive treatment at the end of life. Discussions regarding end-of-life issues are often postponed until immediately prior to death. A pediatric palliative care program must be implemented to improve the quality of death in pediatric patients with heart disease.
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Background@#Radiofrequency catheter ablation (RFCA) has been accepted as an efficient therapy for tachycardia, and substantial improvement in the outcomes of RFCA in pediatric patients has been seen. However, there is not enough data on the clinical outcomes of RFCA for ventricular tachycardia (VT) in pediatric patients. The objective of this study was to elucidate the efficacy and safety of RFCA for VT in pediatric patients. @*Methods@#We performed a retrospective study involving 35 consecutive pediatric VT ablation procedures in 28 patients at a single institution. @*Results@#The median age at ablation was 14.0 years (range 6.9–19.2 years). There were 24 patients with a structurally normal heart and four patients with congenital heart disease (CHD). The left ventricular posteroseptal area was the most common site of VT origin (22/28, 78.6%). However, there was an unusual case of VT which involved a papillary muscle as its origin. Acute success was achieved in 30 (85.7%) of 35 procedures. The recurrence rate after successful RFCA was 14.2% (5/35) at a median follow-up of 6.7 years (range 1.0–16.7 years). There were five procedural failures due to the inability to induce VT for complete mapping. Ultimately, long-term success was achieved in 27 patients (96.4%) after repeated procedures and no major complications occurred. Long-term success was associated with VT inducibility (p = < 0.001). @*Conclusions@#Difficulty in inducing VT for precise mapping was a significant obstacle to successful RFCA. RFCA was identified as safe and effective therapy to eliminate VT in the selected pediatric VT patients.
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Background@#Radiofrequency catheter ablation (RFCA) has been accepted as an efficient therapy for tachycardia, and substantial improvement in the outcomes of RFCA in pediatric patients has been seen. However, there is not enough data on the clinical outcomes of RFCA for ventricular tachycardia (VT) in pediatric patients. The objective of this study was to elucidate the efficacy and safety of RFCA for VT in pediatric patients. @*Methods@#We performed a retrospective study involving 35 consecutive pediatric VT ablation procedures in 28 patients at a single institution. @*Results@#The median age at ablation was 14.0 years (range 6.9–19.2 years). There were 24 patients with a structurally normal heart and four patients with congenital heart disease (CHD). The left ventricular posteroseptal area was the most common site of VT origin (22/28, 78.6%). However, there was an unusual case of VT which involved a papillary muscle as its origin. Acute success was achieved in 30 (85.7%) of 35 procedures. The recurrence rate after successful RFCA was 14.2% (5/35) at a median follow-up of 6.7 years (range 1.0–16.7 years). There were five procedural failures due to the inability to induce VT for complete mapping. Ultimately, long-term success was achieved in 27 patients (96.4%) after repeated procedures and no major complications occurred. Long-term success was associated with VT inducibility (p = < 0.001). @*Conclusions@#Difficulty in inducing VT for precise mapping was a significant obstacle to successful RFCA. RFCA was identified as safe and effective therapy to eliminate VT in the selected pediatric VT patients.
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No abstract available.
Sujets)
Enfant , Femelle , Humains , Cardiomyopathies , Dispositifs d'assistance circulatoire , LeucémiesRésumé
OBJECTIVES: This study examined the mediating effects of basic psychological needs between patient autonomy support from healthcare providers, and self-management among cancer survivors.METHODS: This study collected data from 148 cancer patients who had visited D hospitals in B city, Korea. A structured questionnaire was distributed to determine patient characteristics, healthcare provider autonomy support, basic psychological needs, and self-management. Data were analyzed using descriptive statistics, Pearson's correlation coefficient, and regression analysis that implemented Baron and Kenny's method for mediation were used for analyses.RESULTS: Self-management was significantly correlated with the level of healthcare provider autonomy support (r = 0.38, p < 0.001), autonomy (r = 0.40, p < 0.001), competence (r = 0.25, p = 0.002), and relatedness (r = 0.32, p < 0.001). Furthermore, autonomy (β = 0.30, p < 0.001) and relatedness (β = 0.22, p = 0.008) had partial mediating effects on the relationship between healthcare provider autonomy support and self-management (Z = 3.13, p = 0.002 and Z = 2.29, p = 0.022, respectively).CONCLUSION: Autonomy and relatedness mediated the impact of healthcare provider autonomy support for self-management among cancer survivors. This suggests that strategies for enhancing autonomy and relatedness should be considered when developing self-management interventions for cancer survivor patients.
Sujets)
Humains , Prestations des soins de santé , Personnel de santé , Corée , Capacité mentale , Méthodes , Négociation , Autosoins , SurvivantsRésumé
PURPOSE: To determine impacts of symptom clusters, performance and emotional status on the quality of life of gynecologic cancer patients. METHODS: Subjects completed questionnaires consisting of four measurements: symptom cluster, performance and emotional status, and the quality of life. A total of 104 completed data sets were analyzed by descriptive statistics, t-test, ANOVA, Pearson's correlation coefficient, and a multiple regression analysis using the SPSS 21.0 program. RESULTS: Fatigue was identified as the most prevalent symptom (77.9%) and sweating (2.08) as the most severe and uncomfortable symptom (1.80). Six symptom clusters, performance status, anxiety and depression were negatively correlated with quality of life. Four symptom clusters were positively correlated with performance status, and six symptom clusters were positively correlated with anxiety and depression. Factors affecting quality of life were abdominal discomfort cluster (β=−0.23, p=0.005), performance status (β=−0.20, p=0.020), and depression (β=−0.42, p < 0.001). The model was statistically significant explaining 42.5% of variance (F=26.369, p < 0.001). CONCLUSION: The findings supported that symptom clusters and depression negatively influence the quality of life and need to be addressed as we are caring for patients and promoting quality of life.
Sujets)
Humains , Anxiété , Ensemble de données , Dépression , Fatigue , Qualité de vie , Sueur , SudationRésumé
BACKGROUND AND OBJECTIVES: Multifocal atrial tachycardia (MAT), in general, has a favorable outcome. However, there are insufficient data regarding MAT in a pediatric population. This study sought to determine the clinical course of MAT and identify potential prognostic factors. METHODS: The medical records of MAT patients from 1997–2015 were reviewed. The arrhythmia control rate and factors for unfavorable outcomes were assessed and compared to those in the literature. RESULTS: Of the 33 included patients (19 boys and 14 girls), 27 were infants less than 1 year of age. The median age at diagnosis was 1.7 months (range, 0 day to 14 years). Fourteen (42%) patients had structural heart disease. Eight (24%) patients had lung disease and 6 (18%) had a syndromic diagnosis belonging to RASopathy. Two patients developed polymorphic ventricular tachycardia, in whom genetic analysis confirmed the presence of the RyR2 mutation several years later. MAT was controlled in 26 patients (84%) within 3.9 months (median; range, 16 days–18.4 years) using an average of 2.4 medications. There were 3 cases of cardiopulmonary mortality. The arrhythmia control rate was higher in the infant group (85%) than in the non-infant group (67%), although this trend was not statistically significant. There was a significantly lower rate of unfavorable outcomes in the idiopathic infant group (n=11) than in the other groups (p=0.008). Considering the findings of previous studies, the mortality rate was significantly higher in patients with structural heart disease than in patients without (21% vs. 5%, p=0.01). CONCLUSIONS: MAT usually affects infants and has a favorable prognosis, particularly in the idiopathic infant group. However, in the presence of other comorbidities, MAT may have a variable clinical course.
Sujets)
Humains , Nourrisson , Troubles du rythme cardiaque , Fibrillation auriculaire , Flutter auriculaire , Comorbidité , Diagnostic , Cardiopathies , Maladies pulmonaires , Dossiers médicaux , Mortalité , Pronostic , Canal de libération du calcium du récepteur à la ryanodine , Tachycardie , Tachycardie supraventriculaire , Tachycardie ventriculaireRésumé
Long QT syndrome (LQTS) is an inherited cardiac disease characterized by a prolonged heart rate-corrected QT (QTc) interval. We investigated the genetic causes in patients with prolonged QTc intervals who were negative for pathogenic variants in three major LQTS-related genes (KCNQ1, KCNH2, and SCN5A). Molecular genetic testing was performed using a panel including 13 LQTS-related genes and 67 additional genes implicated in other cardiac diseases. Overall, putative genetic causes of prolonged QTc interval were identified in three of the 30 patients (10%). Among the LQTS-related genes, we detected a previously reported pathogenic variant, CACNA1C c.1552C>T, responsible for cardiac-only Timothy syndrome. Among the genes related to other cardiac diseases, a likely pathogenic variant, RYR2 c.11995A>G, was identified in a patient with catecholaminergic polymorphic ventricular tachycardia. Another patient who developed dilated cardiomyopathy with prolonged QTc interval was found to carry a likely pathogenic variant, TAZ c.718G>A, associated with infantile dilated cardiomyopathy. Comprehensive screening of genetic variants using multigene panel sequencing enables detection of genetic variants with a possible involvement in QTc interval prolongation, thus uncovering unknown molecular mechanisms underlying LQTS.
Sujets)
Humains , Cardiomyopathie dilatée , Coeur , Cardiopathies , Syndrome du QT long , Dépistage de masse , Biologie moléculaire , Canal de libération du calcium du récepteur à la ryanodine , Tachycardie ventriculaireRésumé
No abstract available.
Sujets)
Artère pulmonaire , Endoprothèses , Paralysie des cordes vocales , Plis vocauxRésumé
The general concept and initial approach to syncope patients has been mentioned in the general sections. This special sections have been described the characteristics, diagnosis, and treatment with patient education for the each syncope. It has been described in order of reflex syncope, orthostatic hypotension, postural orthostatic tachycardia syndrome (POTS), cardiac syncope, and unexplained syncope. Several clinical issues will have been dealt with in special issues. Neurological assessment is added when the patients were diagnosed with psychogenic pseudosyncope (PPS). Although many childhood syncope caused by reflex syncope, they are also presented as syncope caused by arrhythmic events in patients with congenital heart disease. In the elderly patients, syncope is because of not only a single cause of syncope but a combination of various conditions. In case of a syncope patient visiting the emergency department, a standardized systematic approach will be required to determine whether hospitalize the patient according to the risk of recurrence and the needs for the syncope management unit. We also mention recommendations on the limits of driving, exercising and social life style that are relevant to syncope in all patients. In this guideline, we reviewed the Korean published literatures and European/American guidelines on syncope. We, writing and publishing committee for evaluation and management guidelines of syncope in the Korean Society for Holter and Noninvasive Electrocardiography (KSHNE) under the Korean Heart Rhythm Society (KHRS) are very pleased to be able to publish this guideline. We also hope this guideline will be a good support to manage the syncope patients and a useful trigger for further research in Korea.
Sujets)
Sujet âgé , Humains , Diagnostic , Électrocardiographie , Service hospitalier d'urgences , Coeur , Cardiopathies congénitales , Espoir , Hypotension orthostatique , Corée , Mode de vie , Éducation du patient comme sujet , Syndrome de tachycardie orthostatique posturale , Récidive , Réflexe , Syncope , ÉcritureRésumé
Syncope is a very common symptom that occurs in all age groups, especially in adolescents and elderly people. The cause of syncope is very diverse, and patients with syncope visit various medical departments such as general medicine, cardiology, neurology, and emergency medicine. If we do not perform appropriate diagnostic tests based on detailed history of syncope, we may have some difficulty to identify the cause of syncope. Failure to identify the cause of syncope can lead to physical trauma due to recurrence of syncope or may increase the risk of cardiovascular events in the future. However, there is no Korean guidelines for the diagnosis and treatment of syncope yet. Considering these circumstances in Korea, we prepared writing and publishing committee for evaluation and management guidelines of syncope in the Korean Society for Holter and Noninvasive Electrocardiology (KSHNE) under the Korean Heart Rhythm Society (KHRS). In this guideline, we reviewed the Korean published literatures and European / American guidelines on syncope.
Sujets)
Adolescent , Sujet âgé , Humains , Cardiologie , Diagnostic , Tests diagnostiques courants , Médecine d'urgence , Coeur , Corée , Neurologie , Récidive , Syncope , ÉcritureRésumé
Treatment of ventricular arrhythmias (VA) usually involves managing the underlying cardiac conditions that cause the arrhythmia. However, managing the underlying disease is often challenging, and catheter ablation, or treatment targeting the VA itself might be required in a few patients. In this article, we explored evidence and recommendations regarding the treatment of VA in patients with structural heart disease focusing on the utilization of catheter ablation in these patients. The administration of optimal medical therapy, insertion of an implantable cardioverter-defibrillator, or resynchronization therapy improves survival in patients with left ventricular dysfunction. The role of catheter ablation in preventing sudden cardiac death remains uncertain in this population. In patients with coronary artery disease, reversing myocardial ischemia via revascularization is important in managing VA. Catheter ablation is recommended in patients with recurrent ventricular tachycardia in a setting of ischemic heart disease. In patients with non-ischemic cardiomyopathies such as dilated cardiomyopathy or hypertrophic cardiomyopathy, catheter ablation may be considered for those presenting with drug-refractory ventricular tachycardia.
Sujets)
Humains , Troubles du rythme cardiaque , Cardiomyopathies , Cardiomyopathie dilatée , Cardiomyopathie hypertrophique , Ablation par cathéter , Cathéters , Maladie des artères coronaires , Mort subite cardiaque , Défibrillateurs implantables , Cardiopathies , Ischémie myocardique , Tachycardie ventriculaire , Dysfonction ventriculaire gaucheRésumé
The recommendations outlined constitute the first clinical practice guidelines of the Korean Heart Rhythm Society regarding catheter ablation of ventricular arrhythmias (VA). This is a guideline PART 2, which includes VA in the structurally normal heart, inherited primary arrhythmia syndromes, VA related to congenital heart disease, as well as VA and sudden cardiac death observed in specific populations. In the structurally normal heart, treatment is guided by the occurrence of symptoms or the frequency of arrhythmias that cause ventricular dysfunction over time. Catheter ablation can be recommended in patients in whom anti-arrhythmic medications are ineffective. The sites of origin of arrhythmic activity are known to be the outflow tract, fascicles, papillary muscle, or the annulus. Specific cardiac channelopathies include congenital long QT and Brugada syndrome. This guideline discusses the diagnostic criteria, risk stratification, and treatment of these syndromes. We have included recommendations for adult congenital heart disease. Moreover, we have discussed the management of VA occurring in specific populations such as in patients with psychiatric and neurological disorders, pregnant patients, those with obstructive sleep apnea or drug-related pro-arrhythmias, athletes, and elderly patients.
Sujets)
Adulte , Sujet âgé , Humains , Troubles du rythme cardiaque , Athlètes , Syndrome de Brugada , Ablation par cathéter , Cathéters , Canalopathies , Mort subite cardiaque , Coeur , Cardiopathies congénitales , Maladies du système nerveux , Muscles papillaires , Syndrome d'apnées obstructives du sommeil , Dysfonction ventriculaireRésumé
Ventricular arrhythmias (VA) are a major cause of sudden cardiac death (SCD) in patients with known heart disease. Risk assessment and effective prevention of SCD are key issues in these patients. Implantable cardioverter defibrillator (ICD) insertion effectively treats sustained VA and reduces mortality in patients at high risk of SCD. Appropriate anti-arrhythmic drugs and catheter ablation reduce the VA burden and the occurrence of ICD shocks. In this guideline, authors have described the general examination and medical treatment of patients with VA. Medications and catheter ablation are also used as acute phase therapy for sustained VA.
Sujets)
Humains , Troubles du rythme cardiaque , Ablation par cathéter , Cathéters , Mort subite cardiaque , Défibrillateurs , Cardiopathies , Mortalité , Appréciation des risques , ChocRésumé
Point mutations in the human cardiac homeobox gene NKX2.5 are associated with familial atrial septal defect (ASD), atrioventricular (AV) conduction disturbance, as well as sudden cardiac death. To date, more than 60 NKX2.5 mutations have been documented, but there are no reports in Korea. We are reporting the first Korean family with ASD and AV block associated with a novel mutation in the NKX2.5 coding region. A 9-year-old boy presented with a slow and irregular pulse, and was diagnosed with secundum ASD and first degree AV block. The boy's father, who had a history of ASD correction surgery, presented with second degree AV block and atrial fibrillation. The boy's brother was also found to have secundum ASD and first degree AV block. There were two sudden deaths in the family. Genetic testing revealed a novel mutation of NKX2.5 in all affected members of the family.