• 대한유전성대사질환학회지
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• 제22권1호
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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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• 제28권9호
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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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• 제3권1호
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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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• 제6권1호
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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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• 제31권7호
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• pp.735-738
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• 1998

심장내의 혈관종은 매우 드문 질환으로써 부검 예가 아닌 경우로는 전세계적으로 37예만이 보고되어있다. 증상은 종양의 위치에 따라 우심실 유출로 폐쇄에 따른 증상이나 상공정맥 혹은 하공정맥을 막아서 생기는 등의 다양한 증상이 나타날 수 있으며 때로는 증상이 없이 발견되기도 한다. 치료는 수술 적인 절제를 원칙으로 하나 보고된 예가 적은 관계로 예후에 대해서는 잘 알려져 있지 않다. 그러나 조직학적으로는 양성에 속한다. 연세대학교 심장혈관센터에서는, 흉부 둔상을 주소로 내원한 40세 남자 환자에서 심장 초음파 검사결과 우연히 심장내의 종괴를 발견하였다. 종괴는 수술을 시행하여 절제하였으며 조직학적 검사상 양성 혈관종으로 판명되었다. 환자는 수술후 합병증이 없이 퇴원하였으며 수술후 1년간 관찰 추적중인데, 현재까지 재발없이 양호한 상태를 보이고 있다.

• Investigative Magnetic Resonance Imaging
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• 제23권2호
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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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• 제22권10호
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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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• 제39권5호
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• pp.347-353
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• 2006

배경: 전 폐정맥 환류 이상의 치료성적은 과거에 비해 많이 향상되었으나, 폐정맥 협착은 아직까지 수술 후에 발생하는 심각한 합병증으로 남아있다. 폐정맥 협착의 발생을 감소시키기 위하여 본원에서는 좋은 시야 확보, 적절한 배치, 충분한 개구부의 크기가 중요하다고 생각하고 이러한 원칙하에서 시행한 본원의 경험을 후향적으로 분석하였다. 대상 및 방법: 1995년 1월부터 2005년 2월까지 전 폐정맥 환류 이상으로 진단 받고, 양심실 교정이 가능한 환자 74명을 대상으로 하였다. 상 심장형이 41명(55.4%)으로 가장 많았다. 평균 심폐기 가동시간은 $92.1{\pm}25.9$분, 대동맥 차단 시간은 $39.1{\pm}10.6$분이었고, 순환 정지를 시행한 환자는 30명(40.5%)이었고 평균 시간은 $30.2{\pm}10.7$분이었다. 평균 추적관찰기간은 $41.4{\pm}29.1$개월이었고, 모든 환자에서 추적관찰이 가능하였다. 결과: 수술 당시 나이의 중간값은 28.5일($0{\sim}478$일), 체중은 3.4 kg $(1.4{\sim}9kg)$이었다. 조기사망은 3명(4.1%)이었고, 원인은 폐동맥 고혈압, 패혈증, 돌연사(sudden death)가 각각 1명씩 있었다. 수술 후 폐정맥 폐쇄는 2명(2.7%)으로 조기가 1명, 만기가 1명이었다. 모두 관상 정맥동으로 연결되는 심장형 전폐정맥 환류 이상을 가진 환자들이었고, 심장외부에서 공통 폐정맥과 좌심방의 후벽을 연결하는 재수술을 시행 받았지만 그 중 한 명은 지속적인 폐정맥 협착으로 사망하였다. 5년 생존율과 5년간 폐정맥 협착을 피할 확률은 각각 $94.5{\pm}2.7%$와 $97.2{\pm}2.0%$였다. 결론: 본원에서 시행한 양심실 교정이 가능한 전 폐정맥 환류 이상 환자의 수술에서 심장외부에서 좌심방의 후벽과 공통 폐정맥을 연결한 환자들에서는 폐정맥의 협착이 발생하지 않았다. 따라서 본원에서 가지고 있는 원칙이 폐정맥 협착을 예방하는 데 효과적인 방법이라고 생각된다.

• Journal of Chest Surgery
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• 제25권3호
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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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• 제15권1호
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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.