• Journal of Veterinary Clinics
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• v.29 no.3
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• pp.242-246
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• 2012

A 3-year-old castrated male Korean domestic short-haired cat (weighing 5.2 kg) was referred to the Kangwon National University Veterinary Teaching Hospital, with primary complaints of ascites, pleural effusion and respiratory distress. Diagnostic studies revealed marked chylous and hemorrhagic pleural effusion, cardiomegaly, restrictive filling pattern of transmitral flow and mitral annular tissue Doppler profiles and minimally thickened left ventricular free wall. Based on the echocardiographic findings, the case was tentatively diagnosed as restrictive cardiomyopathy. The case was treated with removal of pleural effusion and medical therapy including furosemide, enalapril, sildenafil, clopidogrel. This is the first case report of restrictive cardiomyopathy in Korea.

• Investigative Magnetic Resonance Imaging
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• v.16 no.2
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• pp.189-194
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• 2012

We report a case of cardiac lymphoma in a 40-year-old man, who had a mediastinal mass which was diagnosed as sclerosing mediastinitis pathologically. The mediastinal mass caused right pulmonary arterial stenosis. The patient developed myocardial hypertrophy and echocardiography showed restrictive physiology and severely decreased left ventricle ejection fraction, 6 months later. MRI showed global left ventricular myocardial hypertrophy and diffuse late gadolinium hyperenhancement after administration of contrast material. Thus, non-ischemic cardiomyopathy was suspected on MRI. However, pathology confirmed the myocardial abnormality as lymphoma after myocardial biopsy. Because a basal part of the left ventricle and global subendocardial myocardium were not involved on contrast-enhanced delayed MRI, the MRI abnormalities could be differentiated from amyloidosis and other myocardial diseases. The peculiar non-mass forming diffuse hypertrophy pattern of cardiac lymphoma has not been known in the MRI literature.

• Investigative Magnetic Resonance Imaging
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• v.18 no.1
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• pp.7-16
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• 2014

Purpose : To evaluate the prevalence and pattern of perfusion defect (PD) on first-pass stress perfusion MR imaging in relation with the degree of left ventricular hypertrophy (LVH) and late gadolinium-enhancement (LGE) in patients with apical hypertrophic cardiomyopathy (APH). Materials and Methods: Cardiac MR imaging with first-pass stress perfusion, cine, and LGE sequence was performed in 26 patients with APH from January 2008 to December 2012. We analyzed a total of 416 segments for LV wall thickness on end-diastolic phase of cine images, and evaluated the number of hypertrophied segment and number of consecutive hypertrophied segment (NCH). We assessed the presence or absence of PD and LGE from all patients. If there was PD, we subdivided the pattern into sporadic (sporadic-PD) or ring (ring-PD). Using univariate logistic method, we obtained the independent predictor for presence of overall PD and ring-PD. Results: PD on stress perfusion MRI was observed in 20 patients (76.9%), 12 of them (60%) showed ring-PD. Maximal LV wall thickness and number of hypertrophied segment were independent predictors for overall PD (all, p < 0.05). NCH with more than 3 segments was an additional independent factor for ring-PD. However, LGE was not statistically related with PD in patients with APH. Conclusion: About three quarters of the patients with APH showed PD, most of them represented as ring-PD. LVH degree or distribution was related with pattern of PD, however, LGE was not related with PD. Therefore, the clinical significance of PD in the patients with APH seems to be different from those with non-APH, and further comparison study between the two groups should be carried out.

• 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.

• Clinical and Experimental Pediatrics
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• v.50 no.2
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• pp.213-217
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• 2007

Pompe disease is a genetic disorder caused by a deficiency of acid ${\alpha}$-glucosidase (GAA). Infantile onset Pompe disease is uniformly lethal. Affected infants generally present in the first few months of life with hypotonia, generalized muscle weakness, and a hypertrophic cardiomyopathy, which is rapidly followed by death, usually by the age of one. The late-onset form is characterized less severe symptoms and prognosis. Therapy for Pompe disease is intended to directly address the underlying metabolic defect via intravenous infusions of recombinant human GAA to replace the missing enzyme. We report a case of atypical infantile-onset Pompe disease that presented symptoms in infancy but had less severe clinical manifestations and improved after GAA enzyme replacement ($Myozyme^{(R)}$, Genzyme Co., MA, USA) therapy. It is very important that pediatricians become aware of signs and symptoms of Pompe disease, such as a nasal voice or a waddling gait at an early stage so that these patients can benefit from appropriate GAA replacement therapy as soon as possible.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.2
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• pp.108-112
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• 2012

Glycogen storage disease type III (GSD type III, OMIM #232400) is a rare autosomal recessive disease caused by a deficiency of the glycogen-debranching enzyme (GDE) with a mutation in the AGL gene (OMIM *610860). It is known to be bifunctional enzyme, that is, having two independent catalytic activities; 1,4-${\alpha}$-D-glucan 4-${\alpha}$-D-glycosyltransferase (EC 2.4.1.25) and amylo-1,6-glucosidase (EC 3.2.1.33) that occur at separate active sites on a single polypeptide chain. Most patients with GSD type III usually have symptoms related to decreased glycogenolysis in liver and muscles, such as hepatomegaly, hypoglycemia, failure to thrive, hyperlipidemia, muscle weakness and cardiomyopathy (type IIIa), however some patients show symptoms restricted to liver (type IIIb). GSD type III is diagnosed by enzyme test through liver or muscle biopsy or mutation analysis of the AGL gene. We report the case of GSD type III proven by gene study after liver biopsy, which revealed c.476delA, c.3444_3445insA in exon 6, 27 of AGL gene in Korean patient.