• Journal of Chest Surgery
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• v.50 no.3
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• pp.144-152
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• 2017

Background: The ubiquitin-proteasome system (UPS) is an important pathway of proteolysis in pathologic hypertrophic cardiomyocytes. We hypothesize that MG132, a proteasome inhibitor, might prevent hypertrophic cardiomyopathy (CMP) by blocking the UPS. Nuclear factor kappa-light-chain-enhancer of activated B cells ($NF-{\kappa}B$) and androgen receptor (AR) have been reported to be mediators of CMP and heart failure. This study drew upon pathophysiologic studies and the analysis of $NF-{\kappa}B$ and AR to assess the cardioprotective effects of MG132 in a left ventricular hypertrophy (LVH) rat model. Methods: We constructed a transverse aortic constriction (TAC)-induced LVH rat model with 3 groups: sham (TAC-sham, n=10), control (TAC-cont, n=10), and MG132 administration (TAC-MG132, n=10). MG-132 (0.1 mg/kg) was injected for 4 weeks in the TAC-MG132 group. Pathophysiologic evaluations were performed and the expression of AR and $NF-{\kappa}B$ was measured in the left ventricle. Results: Fibrosis was prevalent in the pathologic examination of the TAC-cont model, and it was reduced in the TAC-MG132 group, although not significantly. Less expression of AR, but not $NF-{\kappa}B$, was found in the TAC-MG132 group than in the TAC-cont group (p<0.05). Conclusion: MG-132 was found to suppress AR in the TAC-CMP model by blocking the UPS, which reduced fibrosis. However, $NF-{\kappa}B$ expression levels were not related to UPS function.

• Journal of Chest Surgery
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• v.35 no.9
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• pp.672-674
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• 2002

A 40-years-old male with dilated cardiomyopathy(DCMP) and end-stage heart failure had undergone partial left ventriculectomy(PLV) in July 1997 and then underwent cardiac transplantation in January 1999. Three months later he showed increased ejection fraction (EF) from 26% to 42.6%, decreased left ventricular end diastolic diameter(LVEDD) from 71mm to 45mm, cardiac output(CO) 3.95 L/min and cardiac index(CI) 2.28 L/min/m$^2$echocardiographically. Eight months later, left ventriclular end diastolic and systolic diameters increased to 56 and 51 mm respectively and EF decreased to 17% in echocardiographic follow-up. He had been on maximum medication until he underwent cardiac transplantation 18 months after the PLV. Consecutive myocardial biopsies (1, 3 and 6 month later) showed ISHLT (international society of heart and lung transplantation) class la and the treatment for rejection was not needed until now on. We report a partial left ventriculectomy as a successful bridge to cardiac transplantation in a patient with DCMP and end-stage heart failure.

• Journal of Chest Surgery
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• v.43 no.5
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• pp.522-524
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• 2010

Cardiac transplantation in a patient with persistent left superior vena cava (SVC) necessitates unifocalization of the caval veins. Here we report a successful case of orthotopic heart transplantation in a patient with hypertrophic cardiomyopathy and persistent left SVC. Cardiac transplantation was done after the left SVC was anastomosed to the right SVC in an end to side fashion. The postoperative course was uneventful, and the patient is currently in an excellent clinical condition.

• The Korean Journal of Nuclear Medicine
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• v.14 no.1
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• pp.29-36
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• 1980

Most of clinical morbidity in cardiology are associated with abnormalities of the left ventricle. Several methods have been developed to measure the left ventricular function, including cardiac catheterization with cineangiography, echocardiography, and systolic time interval. But these methods have many limitations. ECG gated cardiac blood pool scan provides a safe, noninvasive, repeatable method for determining the left ventricular function. Utilizing the cardiac blood pool scan, we measured the left ventricular function in 165 cardiac patients, and in 26 normal subject. 1. Left ventricular ejection fractions were measured by cardiac blood pool scan, and compared in 20 patients with that measured by x-ray cineangiography. Correlation coefficient was 0.885. 2. Ejection fractions were classified by funtional class made in New York Heart Association. Ejection fractions well represented the functional status. 3. Ejection fractions decreased in cardiomyopathy ($20.1{\pm}4.8%$) and ischemic heart disease ($34.4{\pm}16.7%$). Impaired ejection fractions in myocardial infarction were associated with the extent of infarction. 4. Regional left ventricular wall motion was evaluated from the end-diastolic and end-systolic images. In cardiomyopathy diffuse hypokinesia was noted and in myocardial infarction akinesia was noted on the infarcted areas.

• Clinical and Experimental Pediatrics
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• v.50 no.10
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• pp.1024-1029
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• 2007

Costello syndrome (CS) is a rare multiple congenital abnormality syndrome characterized by a typical coarse face, developmental delay, psychomotor and growth retardation, neurologic abnormalities, cardiac and cutaneous anomalies, severe feeding difficulties with postnatal growth failure, and increased risk of tumors. Since Costello first described it in 1971 and again in 1977, over 100 cases have been reported worldwide. It was recently shown that CS is a congenital condition caused by heterozygous de novo missense mutations affecting the codon for glycine 12 or 13 of the HRAS gene. We experienced three unrelated cases with coarse faces, developmental delays, short statures, macrocephaly, and redundant skin with deep palmar and plantar creases, hypertrophic cardiomyopathy and atrial tachycardia, which are characteristic of CS.

• Journal of Trauma and Injury
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• v.27 no.4
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• pp.229-232
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• 2014

A 55 year-old man hit a vehicle while riding a bicycle. He was diagnosed as left hemopneumothorax, multiple rib fracture, cerebral hemorrhage, and skull fracture. Initially he suffered from hypoxia requiring 100% oxygen with a mechanical ventilator. Finally he became hypotensive. Venovenous extracorporeal membrane oxygenation (ECMO) was initiated to support patient's gas exchange. Because hypotension and left ventricular dysfuction persisted, we converted the mode of support to veno-arterio-venous ECMO. Over four days of intensive care, we could wean off ECMO. The patient went to rehabilitation facility after 45 days of hospitalization. Although trauma and bleeding are considered as relative contraindication of ECMO, careful decision making and management may enable us to use ECMO for trauma-related refractory heart and/or lung failure.

• Journal of Genetic Medicine
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• v.13 no.2
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• pp.99-104
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• 2016

$Cant{\acute{u}}$ syndrome (CS, OMIM 239850) is a very rare autosomal dominantly inherited genetic disease characterized by congenital hypertrichosis, neonatal macrosomia, a distinct facial features such as macrocephaly, and cardiac defects. Since the first description by $Cant{\acute{u}}$ et al. in 1982, about 50 cases have been reported to date. Recently, two causative genes for CS has been found by using exome sequencing analyses: ABCC9 and KCNJ8. Most cases of clinically diagnosed CS have resulted from de novo mutations in ABCC9. In this study, we report three independent Korean children with CS resulting from de novo ABCC9 mutations. Our patients had common clinical findings such as congenital hypertrichosis, distinctive facial features. One of them showed severe pulmonary hypertension and hypertrophic cardiomyopathy, which require medical treatment. And, two patients had a history of patent ductus arteriosus. Although two of our patients had shown early motor developmental delay, it was gradually improved during follow-up periods. Although CS is quite rare, there are the concerns about development of various cardiac problems in the lifetime. Therefore, an accurate diagnosis followed by appropriate management and genetic counseling should be provided to CS patients.

• Journal of Chest Surgery
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• v.30 no.6
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• pp.613-616
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• 1997

We present a case of 58-year-old (tamale with dilated cardiomyopathy(DCMP) in whom we performed left ventricular(LV) remodeling surgery(Batista operation) to reduce the left ventricle diameter and improve left ventricular unction. The patient was admitted September 1996 with heart failure NYHA class IV. There was severe orthopnea and peripheral edema. 2-D echocardiography(Echo) showed DCMP with the ejection fraction(EF) I5%, LV end diastolic dimension(LVEDD) 80mm, mitral regurgitation(MR) grade IV, tricuspid regurgitation ('m) grade ll. Preoperative cardiac output(CO) was 1.5/L/min and cardiac index(Cl) was 1.0 L/min/m2. We proceeded with LV remodeling surgery by resection a part of LV lateral wall between both papillary muscle, from the mitral annulus to the LV apex. Size of resected LV wall was 90 $\times$ 100 $\times$ 15 mm. At the mean time, mitral valve and tricuspid valve were repaired. Postoperative 2-D Echo showed the EF 37%, LVEDD 50 mna, trivial MR, no TR. CO was 3.SL/min and Cl was 2.3 L/min/m2. Her fuctional NYHA class was 1.

• Genes and Genomics
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• v.40 no.12
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• pp.1269-1277
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• 2018

Bcl2-associated athanogene 3 (BAG3) mutations have been reported to cause the myofibrillar myopathy (MFM) which shows progressive limb muscle weakness, respiratory failure, and cardiomyopathy. Myopathy patients with BAG3 mutation are very rare. We described a patient showing atypical phenotypes. We aimed to find the genetic cause of Korean patients with sensory motor polyneuropathy, myopathy and rigid spine. We performed whole exome sequencing (WES) with 423 patients with sensory motor polyneuropathy. We found BAG3 mutation in one patient with neuropathy, myopathy and rigid spine syndrome, and performed electrophysiological study, whole body MRI and muscle biopsy on the patient. A de novo heterozygous p.Pro209Leu (c.626C>T) mutation in BAG3 was identified in a female myopathy. She first noticed a gait disturbance and spinal rigidity at the age of 11, and serum creatine kinase levels were elevated ninefolds than normal. She showed an axonal sensory-motor polyneuropathy like Charcot-Marie-Tooth disease (CMT), myopathy, rigid spine and respiratory dysfunction; however, she did not show any cardiomyopathy, which is a common symptom in BAG3 mutation. Lower limb MRI and whole spine MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. When we track traceable MRI 1 year later, the muscle damage progressed slowly. As far as our knowledge, this is the first Korean patient with BAG3 mutation. We described a BAG3 mutation patient with atypical phenotype of CMT and myopathy, and those are expected to broaden the clinical spectrum of the disease and help to diagnose it.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.50-54
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• 2020

Vici syndrome is a rare, autosomal recessive multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, hypopigmentation, immunodeficiency, and delayed development. We report the case of a 3-year-old boy diagnosed with Vici syndrome. He initially presented with hypotonia and sucking problem. Whole-exome sequencing identified novel compound heterozygous mutations, namely c.2254C>T (p.Gln752Ter) and c.5511-5518+2 del TATGCAAAGT in the EPG5 gene. The diagnostic challenges can be attributed to the diverse clinical manifestations. Thus, whole-exome sequencing is a useful diagnostic tool for the genetically and clinically heterogeneous Vici syndrome. This is the first Korean report of a patient with Vici syndrome.