• Journal of Genetic Medicine
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• v.6 no.2
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• pp.161-165
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• 2009

Pompe disease (glycogen storage disease type II) is an autosomal recessive disorder caused by deficiency of acid-${\alpha}$-glucosidase (GAA) resulting in lysosomal glycogen accumulation in multiple tissue, particularly cardiac and skeletal muscle. The classic infantile form of Pompe disease is characterized by marked cardiomegaly, respiratory failure and severe generalized hypotonia. Most patients die from cardiorespiratory failure or respiratory infection within the first year or two of life without treatment. A "non-classic" phenotype presents with less severe clinical feature and slow progression of disease. We report two patients with non-classic infantile Pompe disease from one family manifested hypertrophic cardiomyopathy and progressive proximal weakness.

• Journal of Yeungnam Medical Science
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• v.27 no.2
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• pp.133-138
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• 2010

Apical hypertrophic cardiomyopathy is rare disease and a variant of hypertrophic cardiomyopathy with prevalence of 1 in 500 in the general population. Apical hypertrophic cardiomyopathy with apical aneurysm and intramural thrombus is extremely rare. We report a case of apical hypertrophic cardiomyopathy progressing to left ventricular apical aneurysm with intramural thrombus diagnosed by contrast echocardiography.

• Annals of Clinical Neurophysiology
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• v.12 no.2
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• pp.66-69
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• 2010

A 73-year-old man with progressive quadriparesis was diagnosed as Guillain-Barr$\acute{e}$ syndrome. On the 6th hospital day, the patient complained of sudden chest discomfort. The blood test and echocardiography suggested myocardial injury, and acute myocardial infarction was considered. However, coronary angiography displayed no vascular lesion, and the electrocardiography and echocardiogram showed marked improvement 14 days later. We concluded the patient had a reversible cardiomyopathy which is a rare complication of Guillain-Barr$\acute{e}$ syndrome.

• Journal of Yeungnam Medical Science
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• v.27 no.1
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• pp.52-56
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• 2010

Idiopathic peripartum cardiomyopathy is an uncommon malady disease. Making the diagnosis is often difficult and it is always necessary to exclude other prior heart disease and other causes of left ventricular dysfunction in pregnant women. Heart failure in these women ensues when the cardiovascular demands of normal pregnancy are further amplified when the common complications of pregnancy complications superimposed upon these underlying conditions that cause compensated ventricular hypertrophy. This may be aggravated by making a late diagnosis and providing inappropriate treatment. We experienced a 38-year-primigravida who has diagnosed with idiopathic peripartum cardiomyopathy and underwent elective cesarean section with general anesthesia.

• The Journal of the Society of Stroke on Korean Medicine
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• v.20 no.1
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• pp.75-81
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• 2019

■ Objectives The purpose of this study is to report the improvement of dilated cardiomyopathy after traditional Korean medical treatment; herb-med, acupuncture, moxibustion. ■ Methods A patient with cardiomyopathy whose chef complaint was oversleep, shortness of breath, fatigue and coldness of hand-foot received inpatient treatment from September 2^nd 2019 to September 23^rd 2019. And we analyzed treatment progress and result. ■ Results We observed that traditional Korean medical treatment decreased symptoms; Fatigue by 30% and Coldness of hand-foot by 100%. And The patient's general condition is improved. ■ Conclusion We report this clinical study to be helpful in treating patients of dilated cardiomyopathy by traditional Korean medicine.

• 대한핵의학회:학술대회논문집
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• 2001.11a
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• pp.41.1-41.1
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• 2001

• Journal of Chest Surgery
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• v.30 no.9
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• pp.876-884
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• 1997

Fourteen patients underwent orthotopic heart transplantation between March 1994 and May 1996 in Seoul National University Hospital. There were 9 male and 5 female patients, and the mean age was 40.8 $\pm$ 12.4 years ranged from 12 to 56 years. All patient were in NYHA Fc III or IV preoperatively. The underlying heart diseases were dilated cardiomyopathy in 11 and restrictive cardiomyopathy in 3. The mean age of donors was 24.9$\pm$ 10.2 years and the causes of the brain death were head trauma by traffic accidents in 8, subarachnoid hemorrhage in 2, 1 asphyxia, 1 fall down injury, 1 brain tumo , and 1 drowning, respectively The blood type was identical in 11, compatible in 2, and incompatible in 1 patient. The direct bicaval anastomosis technique was used in 11 cases, and standard right atrial anastomosis was done in the remaining 3 cases. The graft ischemic time was 158$\pm$44 minutes ranged 94 to 220 minutes. There were two hospital deaths(14.3%). The causes of deaths were 1 right ventricular failure followed by suspected cyclosporine induced hemolytic uremic syndrome and rejection, and 1 delayed massive bleeding, probably from rupture of the anastomotic pseudoaneurysm, respectively. The follow-up duration was 16$\pm$9 months(3 to 28 months). There was one late death(8.3%). All the other patients were in NYHA Fc I except one patient who was in hospital because of the acute rejection. The actuarial survival rates including hospital deaths were 93.7% at 1 month, 86.9% at 6 months, and 77$\pm$12% at 2 years. Conclusively, heart transplantation is the good strategy for the management of end stage heart disease with acceptable operative mortality and early follow-up results.

• Journal of Chest Surgery
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• v.39 no.9 s.266
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• pp.714-717
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• 2006

Heart and kidney transplantation has made great progress in the modern era. Coupled with the growing successes in individual solid organ transplantation, there has also been an increase in the number of multiple organ transplants, such as heart-kidney transplantation. This trend has been in part due to a better understanding of immunobiology, advances in surgical technique and postoperative care, and an often-common pathologic association between dual-organ failure. This pathologic course is representative for end-stage heart failure leading to secondary renal dysfunction or failure, or for end-stage renal failure as a cause for (uremic) cardiomyopathy. However, refractory cardiac failure has long been considered a contraindication to kidney transplantation. Additionally, cardiac transplantation has been denied for patients with end-stage renal disease. Over recent years, combined heart-kidney transplantation has been offered to select patients who were once denied transplantation. We report the first experience of combined heart-kidney transplantation with one year follow-up results.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.22-27
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• 2021

Propionic acidemia (PA) is an inherited autosomal recessive disorder, due to the deficiency of propionyl-CoA carboxylase (PCC). PCC is the enzyme which catalyzes the conversion of propionyl-CoA to D-methylmalonyl-CoA, and it is critical for the metabolism of amino acids, odd-chain fatty acids, and side chains of cholesterol. The clinical manifestations present mostly at the neonatal period with life-threatening metabolic acidosis and hyperammonemia. Here, we described a case of a 16-year-old Korean boy with late-onset PA who presented with embolic cerebral infarction due to dilated cardiomyopathy (DCMP) with left ventricular noncompaction. And he has family history of sudden cardiac death, so we performed metabolic screening and genetic tests. Elevated levels of 3-hydroxypropionic acid, methylcitric acid and propionylglycerine were detected in urine. Plasma acylcarnitine profile showed elevated propionylcarnitine (C3). Diagnosis of PA was confirmed by genetic analysis, which revealed compound heterozygous mutations, c.[1151T>G] (p.[Phe384Cys]) and c.[1228C>T] (p.[Arg410Trp]) in PCCB gene. His heart function is in improving state and the results of biochemical analysis are stable with heart failure medication and metabolic managements. We present a case of patient without episodes of metabolic decompensation who manifests DCMP as the first symptom of PA.

• Clinical and Experimental Pediatrics
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• v.50 no.8
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• pp.774-780
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• 2007

Purpose : The anthracyclines (AC) are widely used chemotherapeutic agents for pediatric cancers. However, the therapeutic use of these agents is limited by their cardiotoxicity. The aim of the present study was to investigate the usefulness of plasma B-type natriuretic peptide (BNP) levels as a marker for AC-induced cardiotoxicity compared to echocardiography in Korean children with cancer. Methods : Fifty-five pediatric cancer patients who had received chemotherapy including AC were enrolled. The cumulative AC doses, clinical symptoms, and two echocardiography parameters, left ventricular fractional shortening (LVFS) and left ventricular ejection fraction (LVEF), were studied and compared with plasma BNP levels. Results : In 55 patients, plasma BNP levels were measured 115 times and echocardiographies were performed 64 times. The median cumulative dose of AC was $325mg/m^2$ (range 120-600; mean 345) and the median plasma BNP level was 10 pg/mL (range 5-950; mean 31). The cumulative AC doses correlated significantly with the plasma BNP levels (P=0.002). The plasma BNP levels correlated significantly with LVFS (P=0.018) and LVEF (P=0.025). Dilated cardiomyopathies were identified in three patients. LVFS and LVEF decreased and plasma BNP levels increased in a patient with acute dilated cardiomyopathy and in that with symptomatic chronic dilated cardiomyopathy. However, LVFS, LVEF and plasma BNP levels were normal in a patient with asymptomatic chronic dilated cardiomyopathy. Conclusion : The results of this study demonstrated that plasma BNP levels could be used as a marker for AC-induced cardiotoxicity; they showed good correlation with echocardiography findings in pediatric cancer patients. Plasma BNP levels may be used for the detection and management of AC-induced cardiotoxicity in Korean children with cancer.