• Proceedings of the Korean Society of Veterinary Clinics Conference
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• 2009.04a
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• pp.127-133
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• 2009

Cardiomyopathies were previously defined as "an idiopathic myocardial disease that is not secondary to any other type of congenital/acquired heart disease or systemic diseases." With increasing understanding of etiology and pathogenesis in human medicine, the difference between cardiomyopathy and specific heart muscle disease has become indistinct. Cardiomyopathies are now classified by the dominant pathophysiology or, if possible, by etiological/pathogenetic factors. The American Heart Association recently advocated the following new definition of cardiomyopathy: Cardiomyopathies are a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually (but not invariably) exhibit inappropriate ventricular hypertrophy or dilatation and are due to a variety of causes that frequently are genetic. Cardiomyopathies either are confined to the heart or are part of generalized systemic disorders, often leading to cardiovascular death or progressive heart failure-related disability. Because the understanding of etiology or pathogenesis of cardiomyopathy has been limited in veterinary medicine, the previous classification is generally used. It is considered a dilated, hypertrophic and restrictive group on the basis of the predominant morphological and functional abnormalities. In addition, arrhythmogenic right ventricular cardiomyopathy and unclassified cardiomyopathy were also recognized in dogs and/or cats.

• Clinical and Experimental Pediatrics
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• v.50 no.11
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• pp.1049-1054
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• 2007

Myocarditis represent an important condition encountered by general pediatricians & general practitioners. Its presentation is varied, and therefore a high index of suspicion must be maintained when the possibility of myocarditis is raised. A progression from viral myocarditis to dilated cardiomyopathy has long been hypothesized. Treatment is initially aimed at achieving hemodynamic stability and is largely supportive. There is currently little evidence to support the immunomodulatory or specific antiviral therapies. Pediatric cardiomyopathies are a heterogeneous group of disorders with diverse genetic, infectious, mitochodrial and metabolic etiologies. The timing and severity of presentation vary according to cardiomyopathy type as well as genetic and ethnic factors. The behavior of specific cardiomyopathies can be predicted by morphological and functional attributes, as well as underlying patient characteristics.

• Clinical and Experimental Pediatrics
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• v.56 no.2
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• pp.52-59
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• 2013

Cardiomyopathy (CMP) is a heterogeneous disease caused by a functional abnormality of the cardiac muscle. CMP is of 2 major types, dilated and hypertrophic, and is further classified as either primary or secondary. Secondary CMP is caused by extrinsic factors, including infection, ischemia, hypertension, and metabolic disorders. Primary CMP is diagnosed when the extrinsic factors of secondary CMP are absent. Furthermore, the World Health Organization, American Heart Association, and European Cardiology Association have different systems for clinically classifying primary CMP. Primary CMP is rare and associated with a family history of the disease, implying that genetic factors might affect its incidence. In addition, the incidence of CMP varies widely according to patient ethnicity. Genetic testing plays an important role in the care of patients with CMP and their families because it confirms diagnosis, determines the appropriate care for the patient, and possibly affects patient prognosis. The diagnosis and genetic identification of CMP in patients' families allow the possibility to identify novel genes that may lead to new treatments. This review focuses on the epidemiology, pathophysiology, diagnosis, and treatment of CMP, with the aim of providing pediatricians with insights that may be helpful in the early identification and management of idiopathic CMP in children.

• Journal of Chest Surgery
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• v.53 no.1
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• pp.34-37
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• 2020

Cerebral air embolism combined with cardiomyopathy secondary to pulmonary barotrauma is rare. Here, we report an unusual case of cerebral air embolism combined with transient cardiomyopathy secondary to large bulla rupture during a pulmonary function test after lung cancer surgery. The patient experienced loss of consciousness. Computed tomography and magnetic resonance imaging suggested a cerebral air embolism. Electrocardiography showed ST-segment elevation and abnormally high plasma levels of cardiac enzymes. Echocardiography and coronary angiography suggested cardiomyopathy. The patient was discharged with no sequelae.

• Proceedings of the Korean Society of Toxicology Conference
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• 2001.10a
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• pp.50-51
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• 2001

DNA damage is an essential step in the pathogenesis of cancer and probably of other chronic degenerative conditions related to cigarette smoke (CS), such as atherosclerosis, cardiomyopathies, etc. Although the major goal of primary prevention is to refrain from smoking, chemoprevention by means of dietary and pharmacological agents provides a complementary preventive strategy. In spite of its overwhelming epidemiological importance, experimental studies evaluating CS as a complex mixture are relatively scanty.(omitted)

• Proceedings of the Korean Society of Toxicology Conference
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• 2001.10b
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• pp.7-8
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• 2001

DNA damage is an essential step in the pathogenesis of cancer and probably of other chronic degenerative conditions related to cigarette smoke (CS), such as atherosclerosis, cardiomyopathies, etc. Although the major goal of primary prevention is to refrain from smoking, chemoprevention by means of dietary and pharmacological agents provides a complementary preventive strategy. In spite of its overwhelming epidemiological importance, experimental studies evaluating CS as a complex mixture are relatively scanty.(omitted)

• 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 The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.1-6
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• 2021

Among the various etiologies of cardiomyopathy, inborn errors of metabolism (IEM) is one of the underlying causes, especially in the pediatric population. The accurate identification of the IEM of cardiomyopathy may lead to better prognosis through disease-specific management. Therefore, clinicians should always keep in mind the possibility that IEM may be one of the underlying etiologies of cardiomyopathy, and carry out multi-systematic clinical approach to diagnosis of IEM. This review covers the pathophysiology, clinical presentations, typical laboratory findings, diagnosis, and proper treatment of each type of IEM-induced cardiomyopathy in pediatric patients to gain a deeper understanding of this subject.

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

• Molecules and Cells
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• v.39 no.10
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• pp.722-727
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• 2016

Cardiomyopathy is a major cause of death worldwide. Based on pathohistological abnormalities and clinical manifestation, cardiomyopathies are categorized into several groups: hypertrophic, dilated, restricted, arrhythmogenic right ventricular, and unclassified. Dilated cardiomyopathy, which is characterized by dilation of the left ventricle and systolic dysfunction, is the most severe and prevalent form of cardiomyopathy and usually requires heart transplantation. Its etiology remains unclear. Recent genetic studies of single gene mutations have provided significant insights into the complex processes of cardiac dysfunction. To date, over 40 genes have been demonstrated to contribute to dilated cardiomyopathy. With advances in genetic screening techniques, novel genes associated with this disease are continuously being identified. The respective gene products can be classified into several functional groups such as sarcomere proteins, structural proteins, ion channels, and nuclear envelope proteins. Nuclear envelope proteins are emerging as potential molecular targets in dilated cardiomyopathy. Because they are not directly associated with contractile force generation and transmission, the molecular pathways through which these proteins cause cardiac muscle disorder remain unclear. However, nuclear envelope proteins are involved in many essential cellular processes. Therefore, integrating apparently distinct cellular processes is of great interest in elucidating the etiology of dilated cardiomyopathy. In this mini review, we summarize the genetic factors associated with dilated cardiomyopathy and discuss their cellular functions.