• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.135-141
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• 2014

Objectives: Fabry disease (FD) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide (Gb3) in tissues due to a deficiency in the enzyme ${\alpha}$-galactosidase A. Hypertrophic cardiomyopathy is one of the chronic complications of FD. We tried to evaluate the prevalence of Fabry disease in the Korean patients with left ventricular hypertrophy (LVH). Methods: A total of 257 patients with LVH were recruited and they were 172 males (mean 56 years, range 30-81 years) and 84 females (mean 66 years, range 45-85 years). Urinary Gb3 was used to screen FD by high performance liquid chromatography-tandem mass spectrometry. Confirmatory tests were done by alpha-galactosidaseA activity using fluorometric assay and by GLA mutation analysis using sequencing. Results: Four patients were screening positive by urinary Gb3 analysis (cutoff, 25 ug/mmol creatinine). But, one female patient was diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis (1/257 patients, 0.4%). She showed 54.3 ug/mmoL creatinine of Gb3 and 15.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alphagalactosidase A activity. And she had a heterozygous GLA mutation of c.796G>A (p.D266N). Her daughter was found to be a carrier for FD confirmed by GLA mutation analysis. Asymptomatic carrier showed 25.5ug/mmol creatinine of Gb3 and 42.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alpha-galactosidase A activity. Conclusions: The prevalence of FD in Koran patients with LVH was detected as 0.4%. Although the prevalence seems to be low, screening studies are of great importance for detecting hidden cases as well as for identifying other effected family members.

• Journal of Chest Surgery
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• v.42 no.1
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• pp.96-99
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• 2009

We report here on a case of a ruptured sinus of a valsalva aneurysm into the left ventricle with the rupture site communicating with both the left coronary sinus and the noncoronary sinus in a 37-year-old male who presented with symptoms of congestive heart failure. Echocardiography showed a sac-like structure around the sinus of valsalva, an enlarged left ventricle (LV) and severe aortic regurgitation, which all suggested a ruptured sinus of a valsalva aneurysm or an aortic-left ventricular tunnel. The operative findings revealed that both the left coronary sinus and the noncoronary sinus had an opening into the left ventricle. The proximal opening into the LV was closed with bovine pericardium and the aortic root was replaced with a composite graft (a 21 mm St. Jude Epic Supra tissue valve and a 24 mm Hemashild graft) by the modified Bentall procedure. The patient was discharged on the 15th postoperative day, and he was regularly followed up for 2 months. We report on this case due to its rarity and to describe the surgical repair techniques.

• Journal of Veterinary Clinics
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• v.31 no.4
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• pp.298-302
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• 2014

An 8-year-old castrated male domestic shorthair cat (Case 1) and 3-year-old castrated male Siamese cat (Case 2) was presented with acute paresis of the hindlimbs, constant open-mouth breathing, and hemoptysis. Heart murmur (Case 1) and gallop sound (Case 2) was ausculated on the left heart base. Radiographs revealed alveolar infiltration of the caudodorsal lung lobes with aerophagea in Case 1 and prominent cardiomegaly in Case 2. Marked concentric hypertrophy of the ventricular septum and free wall, and left atrial enlargement was detected through echocardiography in both cats. Based on the examinations including echocardiography, those cats were diagnosed as hypertropic cardiomyopathy. Abdominal ultrasound revealed echogenic material in the aortic trifurcation region, aortic thromboembolism (ATE). Although prognosis of those animals was guarded, interventional therapeutic approach through direct endovascular thrombolytic therapy was attempted. ATE was visualized through angiography; however dissolving the embolus using interventional thrombolytic approach was not successful due to the extensive thrombus.

• The Korean Journal of Food And Nutrition
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• v.11 no.2
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• pp.171-178
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• 1998

K14 patient with chronic dyspnea, who is senile female, early had suffered from radical mastectomy, radiotherapy, autoplastic transplantation, and knee arthritis. Abnormalities of cardiopulmonary function such as obesita, hypertension, mild left ventricular hypertrophy, and chronic pulmonary disease were found from K14 patient's clinical datas, which based on medical history and diagnosis, as well as evaluation of blood pressure, obesity, clinical diagnosis, chest PA, electrocardiogram, ultrasonocardiograph, and spirometery test. Diagnostic results were exactly analyzed, also long-term cares of K14 patient were discussed with related to the clinical literatures.

• 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.

• Journal of Chest Surgery
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• v.39 no.10 s.267
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• pp.775-778
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• 2006

Hypertrophic cardiomyopathy is characterized by inappropriate hypertrophy of the myocardium and is associated with various clinical presentations ranging from complete absence of symptoms to sudden, unexpected death. These are caused by dynamic obstruction of the left ventricular outflow tract and surgical approaches were initiated. But, the complete resection of hypertrophied midventricular septum is impossible by standard, transaortic approach, because of narrow vision and limited approach. And it leads to inadequate excision, will leave residual left ventricular out-flow tract obstruction or systolic anterior motion of mitral leaflet, and limit symptomatic improvement and patient's survival. We report a case of extended septal myectomy for hypertrophic cardiomyopathy of mid-septum in a child. The extended septal myectomy was performed by aortotomy and left ventricular apical incision, and made possible the complete resection of mid-ventricular septum, abnormal papillary muscles and chordae. The patient's symptom was improved and the postoperative course was uneventful.

• Journal of Veterinary Clinics
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• v.31 no.2
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• pp.85-89
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• 2014

Arterial thromboembolism (ATE) is a common and fatal complication of hypertrophic cardiomyopathy (HCM) in cats. Therefore in this study, we evaluated the hypercoagulability (using plasma concentration of D-dimer) in HCM cats with different stage of heart failure and left atrial enlargement and also investigated the any correlation with echocardiographic indices (including left free wall thickness at diastole, interventricular septal thickness at diastole, LA to Ao ratio, heart failure stage, existence of systolic anterior motion of mitral valve). The median plasma D-dimer concentration in this study population was $0.51{\pm}0.70$ (range 0 to 2.50) ug/mL in the control group, $1.47{\pm}1.29$ (range 0.3 to 5.79) ug/mL in the HCM group, $1.48{\pm}1.65$ (range 0.3 to 5.79) ug/mL in the ISACHC I group, $1.62{\pm}0.4$ (range 1.31 to 2.07) ug/mL in the ISACHC II group, $1.36{\pm}0.91$ (range 0.3 to 2.31) ug/mL in the ISACHC III group, $1.90{\pm}1.60$ (range 0.3 to 5.79) ug/mL in the cat with LA dilation, $1.72{\pm}0.72$ (range 0.6 to 2.31) ug/mL in cats with SEC-T, $1.19{\pm}0.70$ (range 0.3 to 2.31) ug/mL in the cats with SAM, and $1.63{\pm}0.80$ (range 0.6 to 2.31) ug/mL in the cats with ATE. Our study found the median and mean concentration of plasma D-dimer was higher in cat with HCM, ATE, SECT and SAM and clearly provides evidence of hypercoagulability in cats with HCM, although the severity was not correlated to the dilation of LA and the presence of heart failure. This is the first study evaluating the hypercoagulability in cats with HCM in Korea.

• Childhood Kidney Diseases
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• v.18 no.1
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• pp.7-12
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• 2014

Cardiovascular disease (CVD) has been identified as one of the most important factors influencing the long-term prognosis of patients with chronic kidney disease (CKD). However, in pediatric CKD, the clinical importance of CVD tends to be overlooked due to the lack of typical manifestations of CVD in this population. The literature has identified several traditional risk factors of CVD that originate from CKD, including hypertension, diabetes mellitus, dyslipidemia and obesity, in addition to new and non-traditional risk factors including anemia, secondary hyperparathyroidism, oxidative stress and inflammation. In cases of pediatric CKD, cardiovascular disease is usually restricted to subclinical manifestations such as left ventricular hypertrophy, thickening of intimal media on the carotid artery and calcification of the coronary artery. Therefore, risk factors of CVD in pediatric CKD patients should be closely monitored.

• Journal of Chest Surgery
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• v.30 no.11
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• pp.1125-1127
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• 1997

Subvalvular aortic stenosis developed after patch closure of perimembranous'VSD is rarely reported. A 18-month-old, 8 kg child with this complication after VSD closure 8 months ago in other hospital has been treated medically and was admitted to this hospital because of severe cardiomegaly and sign of heart failure. Cardiac catheterization revealed 55 mmHg of pressure gradient between aorta and LV cavity. We report one successful redo case of surgically relieved subvalvular aortic stenosis in a child after patch closure of perimembranous VSD.

• Journal of Veterinary Clinics
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• v.32 no.4
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• pp.330-333
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• 2015

An 1 year old intact male mixed dog (weighing 20 kg) was presented with primary complaints of abdominal distension and severe exercise intolerance. Electrocardiogram found profound bradycardia (46-79 beats/min) with atrial standstill. Laboratory studies found no particular abnormalities. Serum cortisol and T4 concentration were within normal range. Diagnostic imaging studies revealed generalized cardiomegaly, ascites, dilation in all cardiac chambers, absence of atrial contraction, absence of transmitral A-peak, mitral and tricuspid valve insufficiency and normal left ventricular systolic dimension. Based on diagnostic findings, the case was diagnosed as idiopathic atrial standstill. The dog was treated with conventional therapy for heart failure.