Biomedical subjects

Ju Han Kim

Publications and source records attributed to Ju Han Kim.

At least 19 recordsLinked to original sources

PubMed2026

Efficacy and Safety of a Single-Pill Triple Combination of Valsartan, Amlodipine, and Chlorthalidone in Patients With Essential Hypertension Inadequately Controlled on Dual Therapy With Valsartan and Amlodipine: A Randomized, Double-Blind, Multicenter, Phase 3 Trial.

Many hypertensive patients require three or more antihypertensive agents to achieve target blood pressure. This randomized, double-blind, multicenter phase 3 trial conducted in South Korea evaluated the efficacy and safety of a single-pill triple combination therapy with valsartan (Val), amlodipine (Aml), and chlorthalidone (CTD) in patients whose blood pressure remained inadequately controlled on Val/Aml dual therapy. Patients uncontrolled after 4 weeks of Val/Aml 80/5 mg were randomized 1:1 to either Val/Aml/CTD 80/5/12.5 mg or Val/Aml 80/5 mg using a double-dummy design. After 2 weeks, doses were escalated to Val/Aml/CTD 160/5/25 mg or Val/Aml 160/5 mg, respectively, for a total treatment duration of 6 weeks. The primary endpoint was the change in mean sitting systolic blood pressure (MSSBP) from baseline to week 8. Of 193 randomized patients, 178 completed the study. The least squares mean ± SE change in MSSBP was -19.70 ± 1.31 mmHg in the Val/Aml/CTD group versus -8.71 ± 1.26 mmHg in the control group, yielding a statistically significant between-group difference of -10.99 ± 1.81 mmHg (95% CI, -14.56 to -7.41; p < 0.0001). No serious adverse events occurred in the Val/Aml/CTD group, compared with an incidence of 1.98% in the control group (p = 0.4985). Triple combination therapy with Val/Aml/CTD demonstrated superior blood pressure reduction and a favorable safety profile in patients with essential hypertension inadequately controlled on Val/Aml dual therapy, supporting its use as an effective treatment option in this population. Trial Registration: This trial was prospectively registered at ClinicalTrials.gov (identifier: NCT06416865).

Humans↗

PubMed2006

The effects of granulocyte-colony stimulating factor in bare stent and sirolimus-eluting stent in pigs following myocardial infarction.

OBJECTIVES: The purpose of this study was to compare the effects of granulocyte-colony stimulating factor (G-CSF) on in-stent restenosis (ISR) in bare and sirolimus-eluting stents (SES) in a porcine myocardial infarction model. BACKGROUND: Using G-CSF to mobilize stem cells has shown promise in infarcted heart. However, G-CSF may aggravate ISR and an aggressive strategy to prevent ISR is needed. METHODS: Bare stents and SES were implanted in coronary arteries (Group I, bare stents; Group II, bare stents with G-CSF; Group III, SES; Group IV, SES with G-CSF, n=10 in each group) 72 h after experimental myocardial infarction (MI). G-CSF (10 microg/kg/day) was injected for 7 days from 24 h after stent implantation. RESULTS: In coronary angiographic and histomorphometric analysis, percent area stenosis was significantly increased in Group II compared with that in Group I at 28 days (P<0.05). The ratio of inflammatory cells in the neointima was higher in Group II (P<0.05). No significant differences were observed between Group III and IV. In Group II, phosphorylated signal transducers and activators of transcription (STAT)-3, STAT-3, and vascular endothelial growth factor (VEGF) showed increased neointimal expression. In porcine aortic smooth muscle cells (PASMC), G-CSF increased the growth rate, migration, STAT-3 phosphorylation, and VEGF, which were suppressed by rapamycin and AG490, a STAT-3 inhibitor. CONCLUSIONS: STAT-3 and VEGF are important in the development of enhanced ISR by G-CSF in bare stents. SES could be a good strategy to prevent the G-CSF-stimulated proliferation and migration of smooth muscle cells, which could be responsible for neointimal hyperplasia.

Analysis of Variance↗

PubMed2006

Evolution of an intronic microsatellite polymorphism in Toll-like receptor 2 among primates.

Nonhuman primates express varying responses to Mycobacterium tuberculosis: New World monkeys appear to be resistant to tuberculosis (TB) while Old World monkeys seem to be particularly susceptible. The aim of this study was to elucidate the presence of the regulatory guanine-thymine (GT) repeat polymorphisms in intron 2 of Toll-like receptor 2 (TLR2) associated with the development of TB in humans and to determine any variations in these microsatellite polymorphisms in primates. We sequenced the region encompassing the regulatory GT repeat microsatellites in intron 2 of TLR2 in 12 different nonhuman primates using polymerase chain reaction amplification, TA cloning, and automatic sequencing. The nonhuman primates included for this study were as follows: chimpanzee (Pan troglodytes), bonobo (Pan paniscus), gorilla (Gorilla gorilla), orangutan (Pongo pygmaeus), Celebes ape (Macaca nigra), rhesus monkey (Macaca mulatta), pigtail macaque (Macaca nemestrina), patas monkey (Erythrocebus patas), spider monkey (Ateles geoffroyi), Woolly monkey (Lagothrix lagotricha), tamarin (Saguinus labiatus), and ring-tailed lemur (Lemur catta). Nucleotide sequences encompassing the regulatory GT repeat region are similar across species and are completely conserved in great apes. However, Old World monkeys lack GT repeats altogether, while New World monkeys and ring-tailed lemurs have much more complex structures around the position of the repeats. In conclusion, the genetic structures encompassing the regulatory GT repeats in intron 2 of human TLR2 are similar among nonhuman primates. The sequence is most conserved in New World monkeys and less in Old World monkeys.

Animals↗

PubMed2006

Comprehensive analysis of differential gene expression profiles on D-galactosamine-induced acute mouse liver injury and regeneration.

Microarray analysis of RNA from d-galactosamine (GalN)-administered mouse livers was performed to establish a global gene expression profile during injury and regeneration stages at two different doses. A single dose of GalN at 266 or 26.6 mg/kg body weight was given intraperitoneally, and the liver samples were obtained after 6, 24, and 72 h. Histopathologic studies enabled the classification of the D-galactosamine effect into injury (6, 24 h) and regeneration (72 h) stages. By using the Applied Biosystems mouse genome survey microarray, a total of 7267 out of 33,315 (21.8%) genes were found to be statistically reliable at p<0.05 by two-way ANOVA, and 1469 (4.4%) probes at false discovery rate <5% by significance analysis of microarray. Among the statistically reliable clones by both analytical methods, 389 genes were differentially expressed when compared with non-treated control, with more than a 1.625-fold difference (which equals 0.7 in log(2) scale) at one or more GalN treatment conditions and with less than 1.625-fold difference at all three vehicle-treated conditions. Three hundred thirty six genes and 13 genes were identified as injury- and regeneration-specific genes, respectively, showing that most of the transcriptomic changes were seen during the injury stage. Furthermore, multiple genes involved in protein synthesis and degradation, mRNA processing and binding, and cell cycle regulation showed variable transcript levels upon acute GalN administration.

Acute Disease↗

PubMed2006

A sequence-oriented comparison of gene expression measurements across different hybridization-based technologies.

Over the last decade, gene expression microarrays have had a profound impact on biomedical research. The diversity of platforms and analytical methods available to researchers have made the comparison of data from multiple platforms challenging. In this study, we describe a framework for comparisons across platforms and laboratories. We have attempted to include nearly all the available commercial and 'in-house' platforms. Using probe sequences matched at the exon level improved consistency of measurements across the different microarray platforms compared to annotation-based matches. Generally, consistency was good for highly expressed genes, and variable for genes with lower expression values as confirmed by quantitative real-time (QRT)-PCR. Concordance of measurements was higher between laboratories on the same platform than across platforms. We demonstrate that, after stringent preprocessing, commercial arrays were more consistent than in-house arrays, and by most measures, one-dye platforms were more consistent than two-dye platforms.

Chromosome Mapping↗

PubMed2006

Relation of soft plaque and elevated preprocedural high-sensitivity C-reactive protein levels to incidence of in-stent restenosis after successful coronary artery stenting.

Although various predictors relating to in-stent restenosis (ISR) have been demonstrated, the relation between the parameters of intravascular ultrasound and inflammatory markers and ISR has not been reported. This study included 120 patients who underwent stent implantation for angiographically significant stenosis. Patients were divided into a soft plaque group (n = 50) and a nonsoft plaque group (n = 70). All patients underwent angiographic and intravascular ultrasound follow-up at 6 months. The baseline high-sensitivity C-reactive protein (hs-CRP) level was significantly higher in the soft plaque group. The follow-up minimal lumen diameter was significantly smaller in the soft plaque group. Soft plaque was detected in 73% of the ISR group but only 27% of the non-ISR group. Also, ISR was observed in 44% of the soft plaque group in contrast to only 11% of the nonsoft plaque group. The neointimal area at the minimal lumen cross-sectional area at follow-up was significantly larger in the soft plaque group (3.7 +/- 1.5 vs 1.9 +/- 1.5 mm2, p < 0.001). In conclusion, in patients with soft plaque, an elevated hs-CRP level was significantly associated with ISR (63% vs 15%, p < 0.001). By multivariate analysis, the combination of soft plaque and elevated hs-CRP was the most significant independent predictor of ISR.

Biomarkers↗

PubMed2006

Comprehensive analysis of differential gene expression profiles on diclofenac-induced acute mouse liver injury and recovery.

Microarray analysis of RNA from diclofenac-administered mouse livers was performed to establish a global gene expression profile during injury and recovery stages at two different doses. A single dose of diclofenac at 9.5 mg/kg or 0.95 mg/kg body weight was given orally, and the liver samples were obtained after 6, 24, and 72 h. Histopathologic studies enabled the classification of the diclofenac effect into injury (6, 24 h) and recovery (72 h) stages. By using the Applied Biosystems Mouse Genome Survey Microarray, a total of 7370 out of 33,315 (22.1%) genes were found to be statistically reliable at p<0.05 by two-way ANOVA, and 602 (1.8%) probes at false discovery rate <5% by Significance Analysis of Microarray. Among the statistically reliable clones by both analytical methods, 49 genes were differentially expressed with more than a 1.625-fold difference (which equals 0.7 in log(2) scale) at one or more treatment conditions. Forty genes and two genes were identified as injury- and recovery-specific genes, respectively, showing that most of the transcriptomic changes were seen during the injury stage. Furthermore, multiple genes involved in oxidative stress, eicosanoid synthesis, apoptosis, and ATP synthesis showed variable transcript levels upon acute diclofenac administration.

Animals↗

PubMed2006

Selection of neural differentiation-specific genes by comparing profiles of random differentiation.

Differentiation of embryonic stem cells (ESCs) into neurons requires a high level of transcriptional regulation. To further understand the transcriptional regulation of neural differentiation of ESCs, we used oligonucleotide microarray to examine the gene expressions of the guided differentiation (GD) model for dopaminergic (DA) neurons from mouse ESCs. We also determined the gene expression profiles of the random differentiation (RD) model of mouse ESCs into embryoid bodies. From K-means clustering analysis using the expression patterns of the two models, most of the genes (1,282 of 1,884 genes [68.0%]) overlapped in their expression patterns. Six hundred twenty-two differentially expressed genes (DEGs) from the GD model by random variance F-test were classified by their critical molecular functions in neurogenesis and DNA replication (Gene Ontology analysis). However, 400 genes among GD-DEGs (64.3%) showed a high correlation with RD in Spearman's correlation analysis (Spearman's coefficient p(s) >or= .6). The genes showing marginal correlation (-.4 < p(s) < .6) were present in the early stages of differentiation of both GD and RD, which were non-specific to brain development. Finally, we distinguished 66 GD-specific genes based on p(s) <or= -.4, the molecular functions of which were related mainly to vesicle formation, neurogenesis, and transcription factors. From among these GD-specific genes, we confirmed the expression of Serpini1 and Rab33a in P19 differentiation models and adult brains. From these results, we identified the specific genes required for neural differentiation by comparing gene expressions of GD with RD; these would potentially be the highly specific candidate genes necessary for differentiation of DA neurons.

Animals↗

PubMed2006

The clinical results of a platelet glycoprotein IIb/IIIa receptor blocker (abciximab: ReoPro)-coated stent in acute myocardial infarction.

OBJECTIVES: This study is a prospective randomized trial investigating clinical outcomes of patients with acute myocardial infarction (AMI) treated with abciximab (ReoPro)-coated stents. BACKGROUND: Recently we have demonstrated that abciximab-coated stents have inhibitory effects in the prevention of coronary restenosis. METHODS: Ninety-six patients with AMI were randomly allocated into two groups; group I received abciximab-coated stents (n = 48, 57.1 +/- 12.0 years), and group II received bare metal control stents (n = 48, 58.4 +/- 11.6 years). RESULTS: At baseline, clinical characteristics, percent diameter stenosis, and minimal luminal diameter were no different between the two groups. One patient in group II had reinfarction and target lesion reintervention during hospital stay. Follow-up coronary angiography was obtained in 77.1% (37 of 48) in group I and 75.0% (36 of 48) in group II. Percent diameter stenosis and late loss were significantly lower in group I than group II (18.9 +/- 5.54% vs. 37.9 +/- 6.25%, p = 0.008; and 0.39 +/- 0.29 mm vs. 0.88 +/- 0.45 mm; p = 0.008, respectively). At follow-up intravascular ultrasound, intrastent lumen area and intrastent neointimal hyperplasia (NIH) area were 5.4 +/- 1.8 mm2 and 2.2 +/- 1.5 mm2, respectively, in group I and 4.3 +/- 1.6 mm2 and 3.4 +/- 1.8 mm2, respectively, in group II (p = 0.045). And, in-stent restenosis rate was lower in group I than group II (p = 0.011 and p = 0.008, respectively). During 1-year follow-up, two patients in group II (4.1%) had AMI, whereas no patient in group I suffered AMI. Target lesion revascularization and total major adverse cardiac events rates were relatively lower in group I compared with those in group II (10.4% [5 of 48] vs. 20.8% [10 of 48], p = 0.261, and 10.4% vs. 25.0%, p = 0.107, respectively). CONCLUSIONS: Abciximab-coated stent implantation was safe and effective without stent thrombosis in AMI patients.

Abciximab↗

PubMed2006

Effect of combination therapy with simvastatin and carvedilol in patients with left ventricular dysfunction complicated with acute myocardial infarction who underwent percutaneous coronary intervention.

BACKGROUND: This study assessed the effects of combination therapy with simvastatin and carvedilol on clinical outcome in patients with left ventricular (LV) dysfunction after acute myocardial infarction (AMI). METHODS AND RESULTS: The study retrospectively analyzed the data from 672 patients with LV dysfunction [LV ejection fraction (LVEF) <40%] complicated with AMI who underwent percutaneous coronary intervention (PCI). The patients were divided into 4 treatment groups: combination group (n=160), simvastatin only group (n=216), carvedilol only group (n=242), neither treatment group (n=54). At 6 months after PCI, the LVEF had improved most significantly in the combination group. During 1-year follow-up, cardiac death occurred most frequently in the neither treatment group compared with the other 3 groups (combination: 4%, simvastatin alone: 7%, carvedilol alone: 8%, neither: 17%, p<0.001 between neither treatment and other 3 groups). The results on major adverse cardiovascular events (MACE) showed that the combination of simvastatin and carvedilol was associated with a relative risk reduction of 53% (p<0.001), treatment with simvastatin alone with a relative risk reduction of 44% (p=0.001), and carvedilol alone with a relative risk reduction of 40% (p=0.003) compared with neither treatment. The independent predictors of 1-year MACE were neither treatment, elevated high sensitivity C-reactive protein (> or =0.5 mg/dl), and old age (>70 years). CONCLUSION: Combination therapy with simvastatin and carvedilol had a positive impact on the endpoints of cardiovascular death and MACE and seems to have an additive beneficial effect on these endpoints in patients with LV dysfunction complicated with AMI who underwent PCI.

Aged↗

PubMed2006

Varix of the right atrium.

A 68-year-old female patient was referred for the evaluation of an incidentally detected asymptomatic cardiac mass. Imaging studies showed a 3.0 x 2.4 cm, well circumscribed, round, cystic mass with a calcified nodule that was attached to the lower rim of the fossa ovalis in the right atrium. Under cardiopulmonary bypass, the right atrium was opened to reveal a well circumscribed, dark bluish, pedunculated mass. Histologically, the specimen was a unilocular cyst lined by flattened endothelium, with peripheral fibrin clots and dystrophic calcification of the wall. Immunohistochemical staining of the lining cells was positive for cluster designation 34, which represents hematopoietic progenitor cell antigen. The final pathologic diagnosis was compatible with varix of the heart, which should be considered for a cystic mass with a calcified nodule located in the right atrium, near the lower rim of the fossa ovalis.

Aged↗

PubMed2006

The effect of insulin resistance on prognosis of non-diabetic patients who underwent percutaneous coronary intervention.

Insulin resistance is an important risk factor for coronary artery disease. However, there has been no data regarding its clinical effect on the outcomes of percutaneous coronary intervention (PCI) in non-diabetic patients. We analyzed 98 non-diabetic consecutive patients (59+/-11.5 yr, male:female=63:35) who underwent elective coronary angiography. The patients were divided into two groups: Group I (n=71; the value of HOMA-IR [homeostasis model assessment of insulin resistance] <2.6) and Group II (n=27; the value of HOMA-IR > or = 2.6). In-hospital and 30-day major adverse cardiac events (MACE) were compared between the two groups. The concentrations of fasting insulin and triglyceride were significantly higher in Group II than in Group I. Significant correlations were observed between the value of HOMA-IR and body mass index (r=0.489, p<0.001), levels of total cholesterol (r=0.204, p=0.045), triglyceride (r=0.334, p=0.001) and apolipoprotein B (r=0.212, p=0.038). PCI was performed in 59 patients (60.2%). In-hospital and 30-day MACE were higher in Group II than Group I (2.4% vs. 27.8%, p=0.008; 2.4% vs. 27.8%, p=0.008). Multivariate analysis revealed that the value of HOMA-IR > or = 2.6 was an independent predictor of MACE. Increased HOMA-IR level is an important prognostic indicator in non-diabetic patients underwent PCI.

Aged↗

PubMed2006

A case of non-functioning huge adrenocortical carcinoma extending into inferior vena cava and right atrium.

Primary adrenocortical carcinoma (ACC) is a rare tumor and its usual sites of metastasis are the lung (71%), lymph node (68%), liver (42%), and bone (26%). However, intracaval invasion extending into the right atrium is very rare and spontaneous regression of tumor burden in adrenal carcinoma is also rare. We report a case of ACC with direct invasion of the inferior vena cava and right atrium. A 34-yr-old male patient presented with progressive dyspnea, weight loss, and poor oral intake over 3 months. Non-functioning ACC with direct invasion of the inferior vena cava and right atrium was confirmed by imaging, pathologic, and hormonal study. Chemo-radiotherapy was attempted. However, tumor burden was not changed, but rather toxic hepatitis and thrombocytopenia were developed. His subjective symptoms and general conditions were improved after 1 month of conservative management and the patient was discharged. During clinical follow-up, this tumor showed spontaneous regression.

Adrenal Cortex Neoplasms↗

PubMed2006

The tissue microarray object model: a data model for storage, analysis, and exchange of tissue microarray experimental data.

CONTEXT: Tissue microarray (TMA) is an array-based technology allowing the examination of hundreds of tissue samples on a single slide. To handle, exchange, and disseminate TMA data, we need standard representations of the methods used, of the data generated, and of the clinical and histopathologic information related to TMA data analysis. OBJECTIVE: To create a comprehensive data model with flexibility that supports diverse experimental designs and with expressivity and extensibility that enables an adequate and comprehensive description of new clinical and histopathologic data elements. DESIGN: We designed a tissue microarray object model (TMA-OM). Both the array information and the experimental procedure models are created by referring to the microarray gene expression object model, minimum information specification for in situ hybridization and immunohistochemistry experiments, and the TMA data exchange specifications. The clinical and histopathologic information model is created by using College of American Pathologists cancer protocols and National Cancer Institute common data elements. Microarray Gene Expression Data Ontology, the Unified Medical Language System, and the terms extracted from College of American Pathologists cancer protocols and NCI common data elements are used to create a controlled vocabulary for unambiguous annotation. RESULT: The TMA-OM consists of 111 classes in 17 packages to represent clinical and histopathologic information as well as experimental data for any type of cancer. We implemented a Web-based application for TMA-OM, supporting data export in XML format conforming to the TMA data exchange specifications or the document type definition derived from TMA-OM. CONCLUSIONS: The TMA-OM provides a comprehensive data model for storage, analysis, and exchange of TMA data and facilitates model-level integration of other biological models.

Gene Expression Profiling↗

PubMed2005

ArrayXPath II: mapping and visualizing microarray gene-expression data with biomedical ontologies and integrated biological pathway resources using Scalable Vector Graphics.

SUMMARY: ArrayXPath (http://www.snubi.org/software/ArrayXPath/) is a web-based service for mapping and visualizing microarray gene-expression data with integrated biological pathway resources using Scalable Vector Graphics (SVG). Deciphering the crosstalk among pathways and integrating biomedical ontologies and knowledge bases may help biological interpretation of microarray data. ArrayXPath is empowered by integrating gene-pathway, disease-pathway, drug-pathway and pathway-pathway correlations with integrated Gene Ontology, Medical Subject Headings and OMIM Morbid Map-based annotations. We applied Fisher's exact test and relative risk to evaluate the statistical significance of the correlations. ArrayXPath produces Javascript-enabled SVGs for web-enabled interactive visualization of gene-expression profiles integrated with gene-pathway-disease interactions enriched by biomedical ontologies.

Cluster Analysis↗

PubMed2005

Prognostic significance of simvastatin therapy in patients with ischemic heart failure who underwent percutaneous coronary intervention for acute myocardial infarction.

We prospectively followed 202 patients with ischemic heart failure who underwent percutaneous coronary intervention (PCI) for acute myocardial infarction (left ventricular [LV] ejection fraction <40%). Patients were divided into 2 groups: groups I (simvastatin group, n = 106, aged 60.8 +/- 10.3 years, men 71.7%) and II (non-simvastatin group, n = 96, aged 60.9 +/- 10.4 years, men 78.1%). During 1-year clinical follow-up, simvastatin therapy was associated with a significant reduction in mortality (1.9% vs 7.5%, p = 0.048), restenosis rate (25.7% vs 43.1%, p = 0.033), and repeat PCI rate (25.7% vs 43.1%, p = 0.033), and with significant improvement in LV ejection fraction (31% to 42% vs 32% to 39%, p = 0.042). The event-free survival rate was higher in group I than in group II (79.8% vs 57.0%, p = 0.001). In conclusion, simvastatin therapy improves LV systolic function and decreases mortality, restenosis, and repeat PCI rate in patients with ischemic heart failure who underwent PCI for acute myocardial infarction.

Aged↗

PubMed2005

Preinterventional peak monocyte count and in-stent intimal hyperplasia after coronary stent implantation in human coronary arteries.

BACKGROUND: The mechanism of restenosis after stent implantation principally is neointimal hyperplasia. There is evidence that monocytes play a important role in in-stent restenosis (ISR) after stent implantation. HYPOTHESIS: This study assessed the relationship between preinterventional peak monocyte count and neointimal growth after successful stent implantation. METHODS: We performed coronary stent implantation in 85 patients (85 de novo lesions). Peripheral blood sample was obtained in all patients every 12 h before coronary angiography for measurement of peripheral monocytes. All patients received angiographic and intravascular ultrasound (IVUS) follow-up at 6 months after stenting. RESULTS: The preinterventional circulating monocyte count was significantly higher in the ISR group than that in the group without ISR (654 +/- 62/vs. 461 +/- 222/mm3, p < 0.001) and was significantly higher in the reintervention group than that in the no-reintervention group (660 +/- 72/ vs. 470 +/- 216/mm3, p< 0.001). The incidence of ISR and repeat intervention associated with preinterventional monocyte count was highest among the patients in the highest tertile, who were at a 2.64-fold increased risk of ISR and 3.22-fold increased risk of repeat intervention compared with the patients in the lowest tertile. A significant positive correlation was found between preinterventional peak monocyte count and preinterventional plaque and media cross-sectional area and follow-up neointima area (r = 0.311, p = 0.007, r = 0.465, p < 0.001, respectively). The neointima area associated with preinterventional monocyte count was largest among the patients in the highest tertile, that is, 2-fold larger than that of the patients in the lowest tertile (p < 0.001) and 1.44-fold larger than that of the patients in the middle tertile (p = 0.001). CONCLUSION: Our results suggest that circulating preinterventional monocytes play a principal role in the process of in-stent neointimal growth after successful stent implantation.

Adult↗

PubMed2005

Rapid progression from hypertrophic cardiomyopathy to heart failure in a patient with Becker's muscular dystrophy.

We describe the case of a 17-year-old boy with Becker's muscular dystrophy (BMD) presenting with rapid progression from hypertrophic cardiomyopathy to heart failure within 2 years. Initial echocardiogram showed severe hypertrophy of left ventricle (LV) and right ventricle (RV) with normal chamber size, and preserved LV systolic function. Microscopic study of cardiac muscle obtained by endomyocardial biopsy of the interventricular septum showed severe hypertrophy of the muscle fibers and interstitial fibrosis. Follow-up echocardiogram 2 years after the first examination exhibited marked dilated LV and RV with severe LV global hypokinesia. Follow-up endomyocardial biopsy demonstrated increased interstitial cellular matrix. Immunohistochemical staining for dystrophin revealed significant loss of dystrophin along the sarcoplasmic membrane of the right biceps brachii muscle, compatible with BMD.

Adolescent↗