• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.1
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• pp.21-27
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• 2022

Very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency (VLCADD) leads to a defective 𝛽-oxidation, specifically during prolonged fasting, infection, or exercise. Patients with VLCADD usually suffer from cardiomyopathy, hypoketotic hypoglycemia, hepatic dysfunction, exercise intolerance, muscle pain, and rhabdomyolysis, and sometimes succumb to sudden death. VLCADD is generally classified into three phenotypes: severe early-onset cardiac and multiorgan failure, hypoketotic hypoglycemia, and later-onset episodic myopathy. Diagnostic evaluation comprises acylcarnitine analysis, genetic analysis, and VLCAD activity assay. In the acylcarnitine analysis, the key metabolites are C14:1, C14:2, C14, and C12:1. A C14:1 level >1 mmol/L strongly suggests VLCADD. Various treatment recommendations are available for this condition. Dietary management includes decreasing fat content, increasing medium-chain triglyceride levels, and decreasing fasting periods. Supplementation with L-carnitine is controversial. Triheptanoin (a seven-carbon fatty acid triglyceride) treatment demonstrates improvement of cardiac functions. Bezafibrate may improve the quality of life of patients with VLCAD.

• Journal of Chest Surgery
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• v.28 no.9
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• pp.817-821
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• 1995

The CarboMedics Medical valve has become our mechanical valvular prosthesis of choice because of favorable hemodynamic results that associated with marked clinical improvement and low incidence of thromboembolism after it,s uses. The data for this study was collected from August 1988 to July 1993,five years period. There were total of 57 patients[female 40,male 17 in this series with 4 isolated aortic valve,26 isolated mitral valve,11 double valve and a triple valve replacement. The mean follow up time was 32 months. Postoperatively,58% of cases were in New York Heart Association[NYHA functional class I,and mild and moderate symptoms[NYHA class II were present in 36% and there were very few patients remaining in higher functional classes. In postoperative echocardiographic study, showed marked improved cardiac function. The overall early mortality was 3.5% and the late mortality was one case after triple valve replacement due to sudden death. The causes of early death were attributed to early prosthetic valve endocarditis and heart failure.

• Safety and Health at Work
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• v.3 no.1
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• pp.58-66
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• 2012

Objectives: The purpose of this study was to review clinical characteristics and working environments of sudden cardiac death (SCD) cases associated with a tire manufacturer in Korea, and review possible occupational risk factors for cardiovascular disease including nanoparticles (ultrafine particles, UFPs). Methods: We reviewed (i) the clinical course of SCD cases and (ii) occupational and non-occupational risk factors including chemicals, the physical work environment, and job characteristics. Results: Possible occupational factors were chemicals, UFPs of rubber fume, a hot environment, shift work, overworking, and noise exposure. The mean diameter of rubber fume (63-73 nm) was (larger than diesel exhaust [12 nm] and outdoor dust [50 nm]). The concentration of carbon disulfide, carbon monoxide and styrene were lower than the limit of detection. Five SCD cases were exposed to shift work and overworking. Most of the cases had several non-occupational factors such as hypertension, overweight and smoking. Conclusion: The diameter of rubber fume was larger than outdoor and the diesel exhaust, the most well known particulate having a causal relationship with cardiovascular disease. The possibility of a causal relation between UFPs of rubber fume and SCD was not supported in this study. However, it is necessary to continue studying the relationship between large sized UFPs and SCD.

• The Korean Journal of Physiology and Pharmacology
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• v.6 no.1
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• pp.1-7
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• 2002

Congenital Long QT syndrome (LQTs) is a relatively rare pathologic disorder but results frequently in sudden cardiac death. Of the six LQTs that have been clinically described, five have been worked out for their genetic and biophysical profile. Most are generated by mutations which cause a loss of function in two delayed $K^+$ currents, $i_{Ks}\;and\;i_{Kr}.$ One syndrome is generated by mutations in the $Na^+$ channel which causes essentially a gain of function in the channel. Clinically the syndromes are characterized by slowed repolarization of the cardiac ventricular action potential and the occurrence of typical arrhythmias with undulating peaks in the electrocardiogram, called Torsade de Pointes. Arrhythmias are initiated by early or delayed afterdepolarizations and continue as reentry. Triggers for cardiac events are exercise (swimming; LQT1), emotion (arousal; LQT2) and rest/sleep (LQT3). ${\beta}-blockers$ have a high efficacy in the treatment of LQT1 and LQT2. In LQT3 their use is questionable. The study of congenital LQTsyndromes is a remarkable example of how basic and clinical science converge and take profit of each other's contribution.

• Journal of Chest Surgery
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• v.31 no.7
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• pp.735-738
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• 1998

Intracardiac hemangiomas are very rare primary cardiac tumor and there have been at least 37 reports of surgically resected cardiac hemangiomas. Most cardiac hemangiomas are asymptomatic. In symptomatic patients, symptoms are related to the location of tumor and outflow tract obstruction or obstruction of inferior and/or superior vena cava. Sudden death may occur due to conduction disturbances. The principle of treatment is surgical resection, and the prognosis is dependent upon the size, location and multiplicity of the tumor. A 40 year old man was admitted due to chest contusion and was found to have an intracardiac mass during echocardiographic examination. The mass was successfully removed and pathologic examination showed benign hemangioma. The patient was recovered uneventfully in postoperative period and was followed up for 1 year without evidence of recurrence.

• Investigative Magnetic Resonance Imaging
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• v.23 no.2
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• pp.100-113
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• 2019

Sarcoidosis is a multisystem disease characterized by noncaseating granulomas. Cardiac involvement is known to have poor prognosis because it can manifest as a serious condition such as the conduction abnormality, heart failure, ventricular arrhythmia, or sudden cardiac death. Although early diagnosis and early treatment is critical to improve patient prognosis, the diagnosis of CS is challenging in most cases. Diagnosis usually relies on endomyocardial biopsy (EMB), but its diagnostic yield is low due to the incidence of patchy myocardial involvement. Guidelines for the diagnosis of CS recommend a combination of clinical, electrocardiographic, and imaging findings from various modalities, if EMB cannot confirm the diagnosis. Especially, the role of advanced imaging such as cardiac magnetic resonance (CMR) imaging and positron emission tomography (PET), has shown to be important not only for the diagnosis, but also for monitoring treatment response and prognostication. CMR can evaluate cardiac function and fibrotic scar with good specificity. Late gadolinium enhancement (LGE) in CMR shows a distinctive enhancement pattern for each disease, which may be useful for differential diagnosis of CS from other similar diseases. Effectively, T1 or T2 mapping techniques can be also used for early recognition of CS. In the meantime, PET can detect and quantify metabolic activity and can be used to monitor treatment response. Recently, the use of a hybrid CMR-PET has introduced to allow identify patients with active CS with excellent co-localization and better diagnostic accuracy than CMR or PET alone. However, CS may show various findings with a wide spectrum, therefore, radiologists should consider the possible differential diagnosis of CS including myocarditis, dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy, amyloidosis, and arrhythmogenic right ventricular cardiomyopathy. Radiologists should recognize the differences in various diseases that show the characteristics of mimicking CS, and try to get an accurate diagnosis of CS.

• Korean Journal of Radiology
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• v.22 no.10
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• pp.1609-1618
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• 2021

Objective: Arrhythmogenic mitral valve prolapse (MVP) is an important cause of sudden cardiac death characterized by fibrosis of the papillary muscles or left ventricle (LV) wall, and an association between late gadolinium enhancement (LGE) of the LV papillary muscles and ventricular arrhythmia in MVP has been reported. However, LGE of the papillary muscles may be observed in other causes of mitral regurgitation, and it is not limited to patients with MVP. This study was to evaluate the association of LGE of the LV papillary muscles or ventricular wall on cardiac magnetic resonance imaging (CMR) and ventricular arrhythmia in patients with mitral regurgitation. Materials and Methods: This study included 88 patients (mean age ± standard deviation, 58.3 ± 12.0 years; male, 42%) with mitral regurgitation who underwent CMR. They were allocated to the MVP (n = 43) and non-MVP (n = 45) groups, and their LGE images on CMR, clinical characteristics, echocardiographic findings, and presence of arrhythmia were compared. Results: LV myocardial wall enhancement was more frequent in the MVP group than in the non-MVP group (28% vs. 11%, p = 0.046). Papillary muscle enhancement was observed in 7 (7.9%) patients. Of the 43 patients with MVP, 15 (34.8%) showed LGE in the papillary muscles or LV myocardium, including 12 (27.9%) with LV myocardial wall enhancement and 4 (9.3%) with papillary muscle enhancement. One patient with bilateral diffuse papillary muscle enhancement experienced sudden cardiac arrest due to ventricular fibrillation. Univariable logistic regression analysis showed that high systolic blood pressure (BP; odds ratio [OR], 1.05; 95% confidence interval [CI], 1.01-1.09; p = 0.027) and ventricular arrhythmia (OR, 6.84; 95% CI, 1.29-36.19; p = 0.024) were significantly associated with LGE of the papillary muscles. Conclusion: LGE of the papillary muscles was present not only in patients with MVP, but also in patients with other etiologies of mitral regurgitation, and it was associated with high systolic BP and ventricular arrhythmia. Papillary muscle enhancement on CMR should not be overlooked.

• Journal of Chest Surgery
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• v.39 no.5 s.262
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• pp.347-353
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• 2006

Background: Despite recent advances in surgical technique and perioperative care of total anomalous pulmonary venous return (TAPVR), post-repair pulmonary vein stenosis (PVS) remains as a serious complication. We thought that the most important factors of TAPVR repair to prevent PVS were good exposure, proper alignment, and sufficient stoma size. We analyzed our experience retrospectively. Material and Method: Between Jan. 1995 and Feb. 2005, we studied 74 patients diagnosed with TAPVR suitable for biventricular repair. Supra-cardiac type (n=41, 55.4%) was the most common. Mean CPB time, ACC time, and TCA (40.5%, 30/74) time were $92.1{\pm}25.9\;min,\;39.1{\pm}10.6\;min$, and $30.2{\pm}10.7\;min$, respectively. Mean follow-up duration was $41.4{\pm}29.1$ months and follow-up was possible in all patients. Result: The median age and body weight at operation were 28.5 days ($0{\sim}478$ days) and 3.4 kg $(1.4{\sim}9\;kg)$. Early mortality was 4.1% (3/74). Causes of death were pulmonary hypertensive crisis, sepsis, and sudden death. There was PR-PVS in 2 patients (early: 1, late: 1). Both patients were cardiac type TAPVR drained to coronary sinus. Re-operations were done but only one patient survived. Cumulative survival rate in 5 year and percent freedom from PVS were $94.5{\pm}2.7%\;and\;97.2{\pm}2.0%$, respectively. Conclusion: There was no PVS in patients who underwent extra-cardiac anatomosis between LA and CPVC. Therefore it could be said that our principle might be effective in preventing PR-PVS in patients suitable two-ventricle.

• Journal of Chest Surgery
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• v.25 no.3
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• pp.296-306
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• 1992

A 6 year experience with the bileaflet St. Jude Medical valve is reported. Between Feb. 1986 and Dec. 1992, 68 patients received 87 such valves[36 mitral, 13 aortic, and 19 double mitral-aortic valve replacements]. The results are summarized as follows 1. There were 35 male and 33 female patients ranging in age from 17 to 55 years the mean age of 35.3 $\pm$ 9.7 years. 2. The mean aortic clamp time[ACT] of the MVR, AVR and DVR groups were 91.5$\pm$16.4, 117.2$\pm$28.7 and 165.5$\pm$24.1 minutes. The mean total bypass time [TBT] of the MVR, AVR and DVR groups were 112.8$\pm$19.5, 134.7$\pm$31.4 and 192.2$\pm$28.5 minutes. 3. Eighty seven valves were used [55 mitral site, 32 aortic site]. 31mm[20], 33mm[15], 29mm[15], 27mm[2], 25mm[2] and 35mm[1] were used in mitral site and 23mm[13], 21mm[8], 19mm[7] and 25mm[4] were used in the aortic site. In the DVR, there were valve combinations such as 4 cases of M[29mm]-A[19mm], 4 of M[31mm]-A[23mm], 3 of M[33mm]-A[23mm] and others. 4. Preoperative NYHA functional classes were II [3 cases], III [46 cases], IV[19 cases] and improved to I [52 cases] and Il [13 cases] postoperatively. 5 Early postoperative complications were occurred in 15 cases[2Z.l%] and there were LOS in 5 cases[7.4%], arrythmia [3 cases], wound infection [2 cases], hepatitis [2 cases], sudden cardiac arrest [2 cases] and postoperative bleeding [1 case]. The early hospital death was occurred in 3 cases[4.4%] with LOS [1 case] and sudden cardiac arrest [2 cases]. 6. Mean follow-up time of survival cases[65 cases] was 31.3$\pm$21.9 months and the total follow-up time was 169.8 patient-years. Late postoperative complications were occurred in 4 cases[2 thromboembolism, 1 paravalvular leak, 1 thromboembolism br paravalvular leak, 1 valve endocarditis] with the occurrence rate as 2.35% per patient-years. Reoperation was performed in 2 cases [1 paravalvular leak, 1 left atrial thrombus] and there was one [1.5%] late valve related death. Therefore the 6 year complication free rate was 90.6% and 6 year actuarial survival rate was 98.3$\pm$1.7%. On the basis of this experience and the results, SJMvalve appears to be one of the best performing mechanical prosthesis currently available, in terms of both hemodynamics and lower complications with warfarin antioagulation.

• Journal of Genetic Medicine
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• v.15 no.1
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• pp.20-23
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• 2018

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.