• Journal of Yeungnam Medical Science
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• v.27 no.2
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• pp.133-138
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• 2010

Apical hypertrophic cardiomyopathy is rare disease and a variant of hypertrophic cardiomyopathy with prevalence of 1 in 500 in the general population. Apical hypertrophic cardiomyopathy with apical aneurysm and intramural thrombus is extremely rare. We report a case of apical hypertrophic cardiomyopathy progressing to left ventricular apical aneurysm with intramural thrombus diagnosed by contrast echocardiography.

• Journal of Chest Surgery
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• v.51 no.3
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• pp.227-230
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• 2018

Septal myectomy is the gold-standard treatment of hypertrophic cardiomyopathy. However, it involves the risk of incomplete resection of septal muscles or iatrogenic septal perforation depending on the surgeon's practice. Herein, we suggest a few tips for successful septal myectomy and present a relevant case.

• Journal of Yeungnam Medical Science
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• v.23 no.2
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• pp.252-257
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• 2006

Glycogen storage diseases are a heterogeneous group of metabolic disorder affecting multiple organ system: liver, skeletal muscle, heart and brain. Clinical features include: short status, hepatomegaly, hypoglycemia, dyslipidemia and rare involvement of the myocardium except in the case of type III, glycogen storage diseases with hypertrophic cardiomyopathy in adult, which is extremely rare. We treated a case of hypertrophic cardiomyopathy with hepatomegaly that was unknown etiology. The patient was diagnosed as having glycogen storage disease. This 46-year old women was transferred with dyspnea on exertion and abnormal LFTs. She was diagnosed with hypertrophic cardiomyopathy by echocardiography but there was no specific cause for hypertrophic cardiomyopathy. A liver biopsy was performed. The result showed glycogen storage disease possible type III, IV or IX. In conclusion, patients with hypertrophic cardiomyopathy of unknown etiology and abnormal LFTs should be evaluated for glycogen storage disease.

• Korean Journal of Veterinary Research
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• v.55 no.3
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• pp.209-211
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• 2015

An 8-year-old spayed female Maltese (2.5 kg of body weight) presented with the primary complaint of loud heart murmur and exercise intolerance. Diagnostic imaging revealed severe pulmonic stenosis (peak velocity 5.2 m/s) with right ventricular hypertrophy. The dog revisited after 2 years, at which time, diagnostic imaging revealed severe biventricular hypertrophy, dynamic left ventricular outflow tract obstruction, left atrial dilation and pulmonary hypertension with worsened pre-existing pulmonic stenosis. Postmortem investigation revealed hypertrophic cardiomyopathy and regional myocardial infarction. The case was diagnosed as hypertrophic cardiomyopathy secondary to severe right and left ventricular outflow tract obstruction.

• Journal of Chest Surgery
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• v.55 no.2
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• pp.180-182
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• 2022

Surgical septal myectomy is the preferred treatment option for patients with medically intractable obstructive hypertrophic cardiomyopathy. Extended transaortic septal myectomy is a widely performed surgical procedure for patients with subaortic obstruction. The transapical approach may provide an alternative surgical option in less common phenotypes, such as apical hypertrophy or long-segmental septal hypertrophy. In this report, we describe a case of a procedure performed to achieve left ventricular enlargement procedure using a combined transaortic and transapical dual approach in a patient with diffuse-type hypertrophic cardiomyopathy with apical aneurysm and mid-cavity obstruction.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.87-91
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• 2018

X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Cardiac involvement is a common manifestation and is the leading cause of death in Danon disease. We report a case of a 24-month-old boy with hemizygous LAMP2 mutation who presented with failure to thrive and early-onset hypertrophic cardiomyopathy. We applied targeted exome sequencing and found a novel hemizygous c.692del variant in exon 5 of the LAMP2 gene, resulting a frameshift mutation p.Thr231Ilefs*11. Our study indicates that target next-generation sequencing can be used as a fast and highly sensitive screening method for inherited cardiomyopathy.

• Korean Journal of Veterinary Research
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• v.58 no.3
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• pp.159-162
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• 2018

An 11-year-old, castrated male dog presented with a 3-month history of cough and depression. Auscultation revealed systolic murmur and thoracic radiographs showing enlargement of both the atrium and left ventricle. Echocardiography showed thickened mitral valve and moderate-to-severe left atrial enlargement. Additionally, M-mode echocardiography showed symmetric left ventricular wall thickening and systolic anterior motion of the mitral valve, while Doppler imaging revealed high velocity turbulent flow through the left ventricular outflow tract. Based on echocardiography, this case was diagnosed with hypertrophic obstructive cardiomyopathy. After 5 months, the dog was clinically static in radiography and echocardiography.

• Journal of Chest Surgery
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• v.48 no.6
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• pp.419-421
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• 2015

A 43-year-old man with symptomatic hypertrophic obstructive cardiomyopathy (HOCM) was admitted to our hospital with aggravated exertional dyspnea and successfully treated with robotic transmitral septal myectomy. Minimally invasive transmitral septal myectomy may be a feasible surgical option for the treatment of HOCM in selected cases as an alternative to transaortic myectomy.

• Journal of the korean veterinary medical association
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• v.40 no.3
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• pp.241-249
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• 2004

• 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.