• Journal of Veterinary Clinics
• /
• v.37 no.4
• /
• pp.227-230
• /
• 2020

A 8-year-old spayed female Korean short-haired cat was presented with respiratory distress. CBC, serum chemistry analysis, plain radiography, and abdominal ultrasonography were performed. Besides hypertrophic cardiomyopathy (HCM) suspected by the thoracic radiograph, a tubular, tortuous soft tissue structure was detected at the region of the left retroperitoneal cavity on the abdominal radiograph. On the abdominal ultrasonography, a shunt vessel is identified caudo-lateral to the left kidney region. These findings are consistent with spleno-systemic shunts in cats. Furthermore, portal hypertension and diffuse hepatic lesion were also identified. Although the cause of a shunt vessel is not easy to diagnose, it is important to include spleno-systemic shunt into differential diagnosis list, when convoluted, tubular soft tissue opacity is seen on the digital radiography (DR). This report will allow clinicians to raise awareness of complications of portosystemic shunt (PSS) and better treat PSS suspected feline patients when the advanced modalities such as computed tomography and magnetic resonance imaging are not available.

• Annals of Pediatric Endocrinology and Metabolism
• /
• v.23 no.4
• /
• pp.176-181
• /
• 2018

Noonan syndrome (NS) is an autosomal dominant disorder that involves multiple organ systems, with short stature as the most common presentation (>70%). Possible mechanisms of short stature in NS include growth hormone (GH) deficiency, neurosecretory dysfunction, and GH resistance. Accordingly, GH therapy has been carried out for NS patients over the last three decades, and multiple studies have reported acceleration of growth velocity (GV) and increase of height standard deviation score (SDS) in both prepubertal and pubertal NS patients upon GH therapy. One year of GH therapy resulted in almost doubling of GV compared with baseline; afterwards, the increase in GV gradually decreased in the following years, showing that the effect of GH therapy wanes over time. After four years of GH therapy, ~70% of NS patients reached normal height considering their age and sex. Early initiation, long duration of GH therapy, and higher height SDS at the onset of puberty were associated with improved final height, whereas gender, dosage of GH, and the clinical severity did not show significant association with final height. Studies have reported no significant adverse events of GH therapy regarding progression of hypertrophic cardiomyopathy, alteration of metabolism, and tumor development. Therefore, GH therapy is effective for improving height and GV of NS patients; nevertheless, concerns on possible malignancy remains, which necessitates continuous monitoring of NS patients receiving GH therapy.

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

• Korean Journal of Radiology
• /
• v.23 no.12
• /
• pp.1251-1259
• /
• 2022

Objective: T1 mapping provides valuable information regarding cardiomyopathies. Manual drawing is time consuming and prone to subjective errors. Therefore, this study aimed to test a DL algorithm for the automated measurement of native T1 and extracellular volume (ECV) fractions in cardiac magnetic resonance (CMR) imaging with a temporally separated dataset. Materials and Methods: CMR images obtained for 95 participants (mean age ± standard deviation, 54.5 ± 15.2 years), including 36 left ventricular hypertrophy (12 hypertrophic cardiomyopathy, 12 Fabry disease, and 12 amyloidosis), 32 dilated cardiomyopathy, and 27 healthy volunteers, were included. A commercial deep learning (DL) algorithm based on 2D U-net (Myomics-T1 software, version 1.0.0) was used for the automated analysis of T1 maps. Four radiologists, as study readers, performed manual analysis. The reference standard was the consensus result of the manual analysis by two additional expert readers. The segmentation performance of the DL algorithm and the correlation and agreement between the automated measurement and the reference standard were assessed. Interobserver agreement among the four radiologists was analyzed. Results: DL successfully segmented the myocardium in 99.3% of slices in the native T1 map and 89.8% of slices in the post-T1 map with Dice similarity coefficients of 0.86 ± 0.05 and 0.74 ± 0.17, respectively. Native T1 and ECV showed strong correlation and agreement between DL and the reference: for T1, r = 0.967 (95% confidence interval [CI], 0.951-0.978) and bias of 9.5 msec (95% limits of agreement [LOA], -23.6-42.6 msec); for ECV, r = 0.987 (95% CI, 0.980-0.991) and bias of 0.7% (95% LOA, -2.8%-4.2%) on per-subject basis. Agreements between DL and each of the four radiologists were excellent (intraclass correlation coefficient [ICC] of 0.98-0.99 for both native T1 and ECV), comparable to the pairwise agreement between the radiologists (ICC of 0.97-1.00 and 0.99-1.00 for native T1 and ECV, respectively). Conclusion: The DL algorithm allowed automated T1 and ECV measurements comparable to those of radiologists.

• Clinical and Experimental Pediatrics
• /
• v.62 no.6
• /
• pp.224-234
• /
• 2019

Purpose: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) at a tertiary medical center. Methods: The medical records of 5 Korean patients (2 male, 3 female patients) diagnosed with PD between 2002 and 2013 at Samsung Medical Center in Seoul, Republic of Korea were retrospectively reviewed for data, including clinical and genetic characteristics at diagnosis and clinical course after ERT. Results: Common initial symptoms included hypotonia, cyanosis, and tachycardia in patients with IOPD and limb girdle weakness in patients with LOPD. Electrocardiography at diagnosis revealed hypertrophic cardiomyopathy in all patients with IOPD who showed a stable disease course during a median follow-up period of 10 years. Patients with LOPD showed improved hepatomegaly and liver transaminase level after ERT. Conclusion: As ERT is effective for treatment of PD, early identification of this disease is very important. Thus, patients with IOPD should be considered candidates for clinical trials of new drugs in the future.

• Investigative Magnetic Resonance Imaging
• /
• v.18 no.4
• /
• pp.314-322
• /
• 2014

Purpose: Diastolic dysfunction is a common problem in patients with hypertrophic cardiomyopathy (HCM). The purpose of this study was to assess the role of MRI in the assessment of diastolic function using mitral valve and pulmonary vein flow velocities in HCM patients. Methods and Results: Phase-contrast MRI (mitral valve and pulmonary vein) and transthoracic echocardiography was successfully performed for 59 HCM patients (44 men and 15 women; mean age, 51 years). Forty-nine patients had a diastolic dysfunction; grade 1 (n = 20), grade 2 (n = 27), and grade 3 (n = 2) using echocardiography, and ten patients had normal diastolic function. The transmitral inflow parameters (E, A, and E/A ratios) obtained by MRI showed positive correlation with the same parameters measured by echocardiography (Pearson's r values were 0.47, 0.60, and 0.75 for E, A, E/A, respectively, all P < 0.001). With the flow information of the pulmonary vein from cardiac MRI, pseudo-normalized pattern (n = 8) could be distinguished from true normal filling pattern (n = 17), and the diastolic function grades by cardiac MRI showed moderate agreement with those of echocardiography (kappa value = 0.45, P < 0.001). Conclusions: Assessment of left ventricle diastolic function is feasible using phase-contrast MRI in HCM patients. Analysis of pulmonary vein flow velocity on MRI is useful for differentiating pseudo-normal from normal diastolic function in HCM patients.

• Clinical and Experimental Pediatrics
• /
• v.50 no.2
• /
• pp.213-217
• /
• 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
• /
• v.14 no.2
• /
• pp.135-141
• /
• 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.