• Journal of mucopolysaccharidosis and rare diseases
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• v.4 no.1
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• pp.21-25
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• 2018

Fabry disease is a hereditary lysosomal storage disorder caused by the reduction or absence of lysosomal enzyme alpha-galactosidase A and the accumulation of glycosphingolipids, such as globotriaosylceramide (Gb3), in various organs, including the heart. The prevention of cardiac involvement in Fabry disease can only be achieved by enzyme replacement therapy (ERT), and the method of assessing the efficacy of ERT should be confirmed. Changes in the electrocardiogram, such as the shortening of PQ interval, prolongation of QTc and repolarization abnormalities as well as left ventricular hypertrophy in voltage criteria, can be used to identify Fabry disease patients; however, the usefulness of electrocardiograms for evaluating the efficacy of ERT is limited. The assessment of left ventricular hypertrophy using echocardiography has been established to evaluate the efficacy of ERT during long-term period. A new technique involving speckled tracking method might be useful for detecting early cardiac dysfunction and identifying the effect of ERT for a relatively short period. The estimation of left ventricular hypertrophy using cardiac magnetic resonance (CMR) is also useful for assessing the efficacy of ERT. Identifying late gadolinium enhancement in CMR may affect the effectiveness of ERT, and the new technique of T1 mapping might be useful for monitoring the accumulation of Gb3 during ERT. Histopathology in cardiac biopsy specimens is another potentially useful method for identifying the accumulation of GB3; however, the use of histopathology to evaluate of the efficacy of ERT is limited because of the invasive nature of an endomyocardial biopsy.

• BMB Reports
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• v.37 no.2
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• pp.234-238
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• 2004

This study was designed to investigate, in the Turkish population, the association of methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism and left ventricular hypertrophy (LVH) in patients with type II diabetes mellitus. Our study included 249 patients with type II diabetes mellitus (102 men, 147 women) and 214 healthy volunteers as controls (91 men, 123 women). MTHFR C677T genotypes were determined by polymerase chain reaction, restriction fragment length polymorphism techniques. No differences were observed in the distribution of MTHFR genotypes or allele frequencies in the cases versus the controls. The frequency of the MTHFR-mutated allele (T) was 31.7% in the type II diabetes mellitus versus 31.1% of the controls. The homozygous mutation (T/T) in the MTHFR gene was identified in 12% of the type II diabetes mellitus versus 9.3% of the controls. Patients with the TT genotype showed a higher prevalence of LVH when compared to patients with the CC and CT genotypes (p = 0.01). The MTHFR gene C677T mutation may be a possible risk factor for the development of LVH in the type II diabetic patients.

• 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.

• Childhood Kidney Diseases
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• v.15 no.1
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• pp.14-21
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• 2011

Although left Left ventricular hypertrophy (LVH) is not only an adaptive response of the heart to increased cardiac workload in hypertension, it surelybut also is the most potent risk factor of overt cardiovascular complications such as coronary heart disease, heart failure, arrhythmia and stroke in the hypertensive population. Also it has become generally accepted that subclinical cardiovascular disease begins in childhood and LVH is the most readily assessed marker for that. As LVH can be seen in children and adolescents with even mild blood pressure elevation with the reported prevalence of 10 to 47%, aggressive antihypertensive treatment is critical in preventing the development of hypertensive heart disease in that those cases.

• Journal of Chest Surgery
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• v.33 no.10
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• pp.777-784
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• 2000

Congenital aortic stenosis in children is characterized by "excessive" left ventricular hypertrophy with reduced left ventricular systolic wall stress that allows for supernormal ejection performance. We hypothesized that left ventricular wall stress was decreased immediately after surgical correction of pure congenital aortic stenosis. Also measuring postoperative left ventricular wall stress was a useful noninvasive measurement that allowed direct assessment for oxygen consumption of myocardium than measuring the peak systolic pressure gradient between ascending aorta and left ventricle for the assessment of surgical results. Material and Method: Between September 1993 and August 1999, 8 patients with isolated congenital aortic stenosis who underwent surgical correction at Yonsei cardiovascular center were evaluated. There were 6 male and 2 female patients ranging in age from 2 to 11 years(mean age, 10 years). Combined Hemodynamic-Ultrasonic method was used for studying left ventricular wall stress. We compared the wall stress peak systolic pressure gradient and ejection fraction preoperatively and postoperatively. Result: After surgical correction peak aortic gradient fell from 58.4${\pm}$17.6, to 23.7${\pm}$17.7 mmHg(p=0.018) and left ventricular ejection fraction decreased but it is not statistically significant. In the consideration of some factors that influence left ventricular end-systolic wall stress excluding one patient who underwent reoperation for restenosis of left ventricular outflow tract left ventricular end-systolic pressure and left ventricular end-systolic dimension were fell from 170.6${\pm}$24.3 to 143.7${\pm}$27.1 mmHg and from 1.78${\pm}$0.4 to 1.76${\pm}$0.4 cm respectively and left ventricular posterior wall thickness was increased from 1.10${\pm}$0.2, to 1.27${\pm}$0.3cm but it was not statistically singificant whereas left ventricular end-systolic wall stress fell from 79.2${\pm}$24.9 to 57.1${\pm}$27.6 kdynes/cm2(p=0.018) in 7 patients. For one patient who underwent reoperation peak aortic gradient fell from 83.0 to 59.7 mmHg whereas left ventricular end-systolic wall stress increased from 67.2 to 97.0 kdynes/cm2 The intervals did not change significnatly. Conclusion ; We believe that probably some factors that are related to left ventricular geometry influenced the decreased left ventricular wall stress immediately after surgical correction of isolated congenital aortic stenosis. Left ventricular wall stress is a noninvasive measurement and can allow for more direct assesment than measuring peak aortic gradient particularly in consideration of the stress and oxygen consumption of the myocardium therefore we can conclude it is a useful measurement for postoperative assessment of congenital aortic stenosis.

• Journal of Chest Surgery
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• v.44 no.6
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• pp.399-405
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• 2011

Background: Left ventricular (LV) hypertrophy caused by aortic valve stenosis (AS) leads to cardiovascular morbidity and mortality. We sought to determine whether aortic valve replacement (AVR) decreases LV mass and improves LV function. Materials and Methods: Retrospective review for 358 consecutive patients, who underwent aortic valve replacement for degenerative AS between January 1995 and December 2008, was performed. There were 230 men and 128 women, and their age at operation was $63.2{\pm}10$ years (30~85 years). Results: There was no in-hospital mortality, and mean follow-up duration after discharge was 48.9 months (2~167 months). Immediate postoperative echocardiography revealed that LV mass index and mean gradient across the aortic valve decreased significantly (p<0.001), and LV mass continued to decrease during the follow-up period (p<0.001). LV ejection fraction (EF) temporarily decreased postoperatively (p<0.001), but LV function recovered immediately and continued to improve with a significant difference between preoperative and postoperative EF (p<0.001). There were 15 late deaths during the follow-up period, and overall survival at 5 and 10 years were 94% and 90%, respectively. On multivariable analysis, age at operation (p=0.008), concomitant coronary bypass surgery (p<0.003), lower preoperative LVEF (<40%) (p=0.0018), and higher EUROScore (>7) (p=0.045) were risk factors for late death. Conclusion: After AVR for degenerative AS, reduction of left ventricular mass and improvement of left ventricular function continue late after operation.

• Korean Journal of Clinical Laboratory Science
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• v.51 no.3
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• pp.286-293
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• 2019

Hypertension (HTN) is one of the major chronic diseases, and HTN is defined as being in a state of continuous high blood pressure. Left ventricular hypertrophy (LVH) is a condition in which the mass of the left ventricle has increased, and HTN is a leading cause of LVH. HTN and LVH are known to be caused by the interaction of environmental factors and genetic factors. It has been reported that the polymorphisms of SLC8A1, among the genetic factors that affect high blood pressure, are related to salt sensitivity hypertension. In this study, the genetic polymorphisms of SLC8A1 were chosen based on the Korean Genome and Epidemiology data. Logistic regression analysis was then performed for HTN and LVH. Linear regression analysis was also performed for systolic blood pressure (SBP) and diastolic blood pressure (DBP). As a result, 5 SNPs showed statistically significant associations (P<0.05) with HTN, and 10 SNPs showed statistically significant associations with LVH. rs1002671 and rs9789739 showed significant correlation at the same time with HTN and LVH. These results suggest that the polymorphisms of the SLC8A1 gene are linked to the development of HTN and LVH in Koreans. We expect these results to help us understand the pathogenic mechanisms for HTN and LVH.

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

• Journal of Chest Surgery
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• v.10 no.1
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• pp.148-155
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• 1977

The clinical findings with cardioangiography and successful surgical treatment of a 10 year old girl with double-outlet right ventricle is reported at The Dept. of Thoracic and Cardiovascular Surgery, Korea University Hospital, College of Medicine. The patient has been suffered from intermittent cyanosis, palpitation, and exertional dyspnea since 1 year after NFSD, and a holosystolic ejection murmur of grade 4 at the left 3rd intercostal space with mild cyanosis of the lips was the only physical findings at the time of this admission. Cardiac catheterization revealed ventricular septal defect with left to right shunt of 43% and right to left shunt of 10.2%. On cardioangiography from the left ventricle revealed all of the left ventricular outflow shunted into the right ventricle through the large ventricular septal defect, and the aorta originated from the infundibular chamber of the right ventricle with left, anterior sided pulmonary artery. The atria, viscera, and ventricles were normally located, and right ventricular out-flow was narrowed with infundibular hypertrophy and pulmonary valvular stenosis. Surgical correction was accomplished by closure of the ventricular septal defect in such a way that left ventricular outflow was routed via a Teflon felt prosthetic tunnel to the aorta, and pulmonary valvulotomy with infundibulectomy Was done to pass Hegar`s dilator No. 15 for reconstruction of the right ventricular outflow tract. The patient tolerated complete repair and has continued to improve over a period of three months after operation with normal school life. Details of the disease and method of repair are presented with related references.

• Journal of Veterinary Clinics
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• v.39 no.6
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• pp.366-372
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• 2022

A 2-year-old, spayed female, American shorthair cat presented with acute weight loss, tachypnea, and dyspnea. The cat had grade V holosystolic murmur and systemic hypotension. Echocardiography showed a 9 mm defect in the ventricular septum, left-to-right dominant bi-directional shunt, right ventricular hypertrophy, pulmonary stenosis, pulmonary hypertension, and overriding aorta. The cat was diagnosed with a Tetralogy of Fallot. The cat was treated with furosemide, pimobendan, ramipril, and sildenafil. Treatment reduced pulmonary infiltration, pulmonary vessel enlargement, and main pulmonary artery bulging. However, right-to-left flow increased over time and right ventricular outflow tract velocity was elevated. Currently, the patient has maintained an improved state for 1 year. This case report described a severe inherited feline Tetralogy of Fallot case that was successfully managed for a long time.