• Clinical and Experimental Pediatrics
• /
• v.46 no.2
• /
• pp.195-197
• /
• 2003

Sick sinus syndrome(SSS) constitutes a spectrum of cardiac arrhythmia, including sinus bradycardia, sinus pause-arrest, sinoatrial block, slow escape rhythm, bradyarrhythmia and tachyarrhythmia. SSS is relatively uncommon in children but its exact incidence is unknown because diagnostic criteria are not uniform and most children with SSS, in general are asymptomatic. SSS may be primary(organic sinus node disease) or secondary(cardiac surgery comprises much of SSS in children and adolescents), but it can hardly be caused by familial relations as well. We reports an occurrence of familial sick sinus syndrome. Mother was diagnosed as SSS, which was presented by symptoms of dizziness and treated by permanent pacemaker(DDD). Also, two daughters revealed SSS with non-compacted cardiomyopathy on neonatal screening and fetal echocardiography respectively. We concluded that familial SSS may occur, so familial screening should be suggested.

• Journal of Chest Surgery
• /
• v.35 no.4
• /
• pp.307-310
• /
• 2002

The purpose of this presentation is to demonstrate a good results of a second operation, the Waffle procedure, in a patient who did not improve following pericardiectomy. Incomplete parietal pericardiectomy, myocardial fiber atrophy, and unexpected restrictive cardiomyopathy can be considered when the patient\`s symptom does not improve after pericardiectomy is carried out. Constrictive epicarditis is always ruled out. In our case, the patient having constrictive pericarditis combined with pericardial effusion received a pericardiectomy. However, hemodynamics and symptoms of the patient following the operaltion did not improve. However, we experienced a good result following a second operation., the Waffle procedure.

• The Korean Journal of Physiology and Pharmacology
• /
• v.18 no.1
• /
• pp.1-14
• /
• 2014

During long standing hyperglycaemic state in diabetes mellitus, glucose forms covalent adducts with the plasma proteins through a non-enzymatic process known as glycation. Protein glycation and formation of advanced glycation end products (AGEs) play an important role in the pathogenesis of diabetic complications like retinopathy, nephropathy, neuropathy, cardiomyopathy along with some other diseases such as rheumatoid arthritis, osteoporosis and aging. Glycation of proteins interferes with their normal functions by disrupting molecular conformation, altering enzymatic activity, and interfering with receptor functioning. AGEs form intra- and extracellular cross linking not only with proteins, but with some other endogenous key molecules including lipids and nucleic acids to contribute in the development of diabetic complications. Recent studies suggest that AGEs interact with plasma membrane localized receptors for AGEs (RAGE) to alter intracellular signaling, gene expression, release of pro-inflammatory molecules and free radicals. The present review discusses the glycation of plasma proteins such as albumin, fibrinogen, globulins and collagen to form different types of AGEs. Furthermore, the role of AGEs in the pathogenesis of diabetic complications including retinopathy, cataract, neuropathy, nephropathy and cardiomyopathy is also discussed.

• Journal of Genetic Medicine
• /
• v.14 no.2
• /
• pp.80-85
• /
• 2017

Methylmalonic acidemia (MMA) is an autosomal recessive metabolic disorder characterized by an abnormal accumulation of methylmalonyl-CoA and methylmalonate in body fluids without hyperhomocysteinemia. Cardiac disease is a rarely known lethal complication of MMA, herein, we report a Korean neonate diagnosed with MMA on the basis of biochemical and genetic findings, who developed cardiomyopathy, resulting in sudden death. The patient presented vomiting and lethargy at 3 days of age. Initially, the patient had an increased plasma propionylcarnitine/acetylcarnitine concentration ratio of 0.49 in a tandem mass spectrometry analysis and an elevated ammonia level of $537{\mu}mol/L$. Urine organic acid analysis showed increased excretion of methylmalonate. Subsequent sequence analysis of the methylmalonyl-CoA mutase (MUT) gene revealed compound heterozygous mutations c.323G>A (p.Arg108His) in exon 1 and c.1033_1034del (p. Leu345Serfs*15) in exon 4, the latter being a novel mutation. In summary, this is the first case of MMA and cardiomyopathy in Korea that was confirmed by genetic analysis to involve a novel MUT mutation.

• Journal of Veterinary Clinics
• /
• v.34 no.4
• /
• pp.275-278
• /
• 2017

An 8-year old female Korean Short Hair cat with a history of paralysis of both hind limbs less than 1 hour before admission was referred. On physical examination, the left hind limb was cold and there was no pulsation or mobility. On abdominal ultrasound examination, a thrombus 8 mm in length was found at the aortic bifurcation. The patient was diagnosed with hypertrophic cardiomyopathy (HCM) and cardiogenic pulmonary edema through radiologic evaluation and echocardiography. A tissue plasminogen activator (tPA) was applied intravenously using an accelerated dosing protocol (1 mg administered intravenously [IV] bolus, 2.5 mg IV over 30 min, 1.5 mg IV over 1 h) to treat the feline arterial thromboembolism. Within 12 h after administration of tPA, pulsation and mobility of both hind limbs were normal, without any noticeable complications. Clopidogrel was prescribed to prevent additional thrombus formation, and pimobendan, benazepril, and furosemide were prescribed for administration at home. The patient was discharged and survived 377 days.

• Journal of Veterinary Clinics
• /
• v.27 no.4
• /
• pp.435-439
• /
• 2010

A six-year-old intact female Bull Terrier dog (weighing 17 kg) was referred to the Veterinary Teaching Hospital with exercise intolerance and occasional syncope as the primary complaint. Diagnostic studies revealed a rare case of atrial flutter with complete heart block and aberrant ventricular activation from the ectopic focus, possibly due to idiopathic dilated cardiomyopathy. Although the dog was responded with cardiac medication for right-sided heart failure and anti-arrhythmic agent (dofetilide), the dog died suddenly of cardiac arrest after 11 months of treatment.

• Radiation Oncology Journal
• /
• v.12 no.3
• /
• pp.285-293
• /
• 1994

Purpose : The study was designed to investigate the effect of cis-dichlorodiammineplatinum(II)(cis-DDP) on the radiation-induced cardiomyopathy in the rat. Materials and Methods : The myocardial damage was assessed by histopathologic changes. In radiation alone group, radiation dose ranged from 10-40 Gy X-ray in a single dose and in combined group, cis-dichlorodiammineplatinum(II) at a dose of 6 mg/kg was given intraperitoneally immediately after irradiation of same dose with X-ray alone group. Results : The early changes by radiation included congestion, inflammatory cell infiltrations and fibrosis in myocardial interstitium with focal myocardial necrosis, which was noted in 10 Gy group, Myocardial fibrosis was increased by increasing dose of radiation but myocardial necrosis was not Proportional to radiation dose. cis-DDP alone group showed minimal degeneration of myocardium with surrounded by inflammatory cell infiltrations. In combined group, myocardial fibrosis in 10 Gy group were similar to radiation alone group, but 30 Gy and 40 Gy groups showed severer changes. Electron microscopic examination showed disruption of Z-band and edema of mitochondria with decreased matrix density in 20 Gy radiation group which were severer in 40 Gy radiation group. Combined group showed endothelial changes and disruption of Z-band worse than radiation alone group as well as increased connective tissue, which was considered as a hallmark of late change in radiation-induced heart disease. Conclusion : This results showed minimal enhancement of the radiation-induced cardiomyopathy in rats by cis-DDP.

• Neonatal Medicine
• /
• v.28 no.2
• /
• pp.77-82
• /
• 2021

We present the case of a healthy 28-day-old female full-term neonate who was admitted to the neonatal intensive care unit for severe metabolic acidosis, hypoglycemia, and an initial sinus rhythm. The first diagnostic hypothesis was hypovolemic shock, and fluid resuscitation was started immediately. During fluid therapy, cardiovascular collapse occurred with supraventricular tachycardia. The latter was successfully treated with adenosine and beta-blockers. After 8 days, electrocardiography showed ventricular pre-excitation, and Wolff-Parkinson-White syndrome was diagnosed. A novel variant of the MYL2 gene that is related to hypertrophic cardiomyopathy and conduction defect was found after discharge. Cardiogenic shock should be considered, despite being a rare cause of shock in neonates.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.22 no.1
• /
• pp.1-8
• /
• 2022

Long-chain fatty acid oxidation disorders (LC-FAOD) are an autosomal recessive inherited rare disease group that result in an acute metabolic crisis and chronic energy deficiency owing to the deficiency in an enzyme that converts long-chain fatty acids into energy. LC-FAOD includes carnitine palmitoyltransferase type 1 (CPT1), carnitine-acylcarnitine translocase (CACT), carnitine palmitoyltransferase type 2 (CPT2), very long-chain acyl-CoA dehydrogenase (VLCAD), long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), and trifunctional protein (TFP) deficiencies. Common symptoms of LC-FAOD are hypoketotic hypoglycemia, cardiomyopathy, and myopathy. Depending on symptom onset, the disease can be divided as neonatal period, late infancy and early childhood, adolescence, or adult onset, but symptoms can appear at any time. The neonatal screening test (NBS) can be used to identify the characteristic plasma acylcarnitine profiles for each disease and confirmed by deficient enzyme analysis or molecular testing. Before introduction of NBS, the mortality rate of LC-FAOD was very high. With NBS implementation as routine neonatal care, the mortality rate was dramatically decreased, but severe symptoms such as rhabdomyolysis recur frequently and affect the quality of life. Triheptanoin (Dojolvi^®), the first drug for pediatric and adult patients with molecularly confirmed LC-FAOD, has recently been approved by the US Food and Drug Administration in 2020. In this review, the diagnosis of LC-FAOD and treatment including triheptanoin are summarized.

• Korean Journal of Radiology
• /
• v.23 no.6
• /
• pp.581-597
• /
• 2022

Left ventricular (LV) wall thickening, or LV hypertrophy (LVH), is common and occurs in diverse conditions including hypertrophic cardiomyopathy (HCM), hypertensive heart disease, aortic valve stenosis, lysosomal storage disorders, cardiac amyloidosis, mitochondrial cardiomyopathy, sarcoidosis and athlete's heart. Cardiac magnetic resonance (CMR) imaging provides various tissue contrasts and characteristics that reflect histological changes in the myocardium, such as cellular hypertrophy, cardiomyocyte disarray, interstitial fibrosis, extracellular accumulation of insoluble proteins, intracellular accumulation of fat, and intracellular vacuolar changes. Therefore, CMR imaging may be beneficial in establishing a differential diagnosis of LVH. Although various diseases share LV wall thickening as a common feature, the histologic changes that underscore each disease are distinct. This review focuses on CMR multiparametric myocardial analysis, which may provide clues for the differentiation of thickened myocardium based on the histologic features of HCM and its phenocopies.