A case of LEOPARD syndrome with cor triatriatum / 대한내과학회지

The LEOPARD syndrome is an acronym and serves as a mnemonic for the features of this autosomal dominant syndrome : L - lentigines (multiple), E - electrocardiographic conduction abnormalities, O - ocular hypertelorism, P - pulmonary stenosis, A - abnormalities of genitalia, R - retardation of growth, and D - deafness (sensoryneural). The main features of the syndrome are multiple lentigines in combination with congenital heart malformations. These frequently accompanied cardiac abnormalities are pulmonary stenosis, hypertrophic cardiomyopathy, and various ECG abnormalities. It is advisable to make cardiac evaluation in a patient with LEOPARD syndrome in spite of no clinical symptoms or signs, since cardiac dysfunction may be progressive or developed later. We experienced a case of this syndrome in a 31 year-old female, presenting multiple lentigines, ocular hypertelorism, and congenital cardiac abnormalities of incomplete right bundle branch block and cor triatriatum. We report the case with brief literature review.

Evaluation of Left Ventricle Diastolic Function by Color M-Mode Doppler Echocardiography in Coronary Artery Disease

PURPOSE: The aims of this study were to evaluate the usefulness of the propagation velocity (Vp) measured by transthoracic color M-mode Doppler in patients with coronary artery disease and compare Vp with conventional diastolic function index using transmitral and pulmonary vein flow. METHODS: Study subjects were classified into two groups according to the presence of coronary artery disease (CAD): 44 subjects (M:F=22:22, mean age 63+/-12 yrs) with CAD (AMI; n=13 , unstable angina; n=5, stable angina; n=26); 31 normal subjects (M:F=13:18, mean age 43+/-15 yrs). Vp of early flow into left ventricular cavity measured by color M-mode Doppler was proposed as an index of left ventricular diastolic function. Vp was compared with conventional diastolic function index. RESULTS: 1. Vp in CAD patients (32.8+/-9.1 cm/sec) was lower than control (63.6+/-14.1 cm/sec)(p>0.01). Among CAD patients, Vp in CAD patients (30.1+/-8.6 cm/sec) with left ventricular hypertrophy (LVH) was lower than Vp in CAD patients without LVH (35.9+/-8.9 cm/sec)(p>0.01). 2. Vp was correlated with left ventricular ejection fraction (r=0.602, p>0.01), with D wave of pulmonary vein flow (r=0.540, p>0.01) and with E/A velocity ratio of mitral inflow (r=0.517, p>0.01) and negatively correlated with left ventricular mass index (r=-0.576, p>0.01). CONCLUSION: The propagation velocity measured by color M-mode Doppler is a useful index for evaluation of diastolic function of left ventricle in the patients with coronary artery disease.

The Usefulness of Echocardiographic Severity Index for Prediction of Severity of Pulmonary Embolism

BACKGROUND: Pulmonary embolism is associated with varying degrees of pulmonary vascular obstruction. This study was undertaken to establish whether the extent of perfusion defect in lung scintigraphy can be predicted from analysis of echocardiographic measurements in patients with pulmonary embolism. METHODS: We retrospectively studied 28 patients who presented with clinical evidence of pulmonary embolism. In order to compare the extent of perfusion defect in lung scintigraphy, we devised a scoring system (echocardiographic severity index, ESI) for various echocardiographic parameters, which include right ventricle size, area, shape, systolic function, and pulmonary artery pressure. [ESI=sum of scores/number of parameters measured]. RESULTS: The mean values (+/-SD) of each parameter were as follow; right ventricular end-diastolic dimension (RVedD), 34.5+/-5.7 mm; LVedD, 40.9+/-5.2 mm; ratio of RVedD to LVedD, 0.87+/-0.2; right ventricular end-diastolic area (RVedA), 24.7+/-9.5 cm2; right ventricular end-systolic area (RVesA), 17.8+/-7.8 cm2; fractional area change, 28.8+/-9.7%; angle between IVS and RV, 96.0+/-14.8degrees; RV hypokinesia, absence or mild in 29%, moderate in 50%, severe in 21%; TR grade, absence or mild in 25%, moderate in 43%, severe in 32%; pulmonary artery systolic pressure, 50 mmHg 11% of patients. The echocardiographic severity index (ESI) in patients with pulmonary embolism was 0.52+/-0.24, and the perfusion defect score was 0.21+/-0.14. There was a close correlation between the ESI and the extent of perfusion defect (r=0.622, p<0.01). CONCLUSION: The echocardiographic severity index may reflect the extent of the perfusion defects in patients with pulmonary embolism, therefore it is potentially applicable in clinical practice for evaluating patients with pulmonary embolism and furthermore in their follow-up over a period of time.

Transthoracic Echocardiographic Assessment of Adriamycin-induced Cardiomyopathy in Rats with a 15 MHz Transducer

BACKGROUND: Adriamycin (doxorubicin) is one of the widely used drugs in the treatment of a variety of solid and hematologic malignancies. However, the adriamycin-induced cardiomyopathy limits the prolonged use of this effective drug. Transthoracic echocardiography is the excellent tool in early detection and follow-up studies of adriamycin-induced cardiomyopathy. The aim of this study was to assess the cardiac function and morphology using a 15 MHz high-frequency imaging in rats. METHODS: Adriamycin was administrated intraperitoneally by six equal injections at a dose of 2.5 mg/kg over a period of 2 weeks for total cumulative dose of 15 mg/kg body weight in 12 male Sprague-Dawley rats (weight 367+/-39 g). Transthoracic echocardiography with a 15 MHz linear-array transducer was performed at baseline and additionally at 3 weeks to measure the left ventricular wall thickness and dimension from the parasternal short axis view with 2D guided M-mode and pulsed Doppler signals of mitral inflow. Within 2 days of echocardiography, the heart was harvested for electron microscopic evaluation after potassium-induced cardiac arrest. RESULTS: 1) The mortality rate during the experimental period was 0%. 2) Transthoracic echocardiography provided adequate 2D guided M-mode images and pulsed Doppler signals of mitral inflow in all rats. 3) In follow-up echocardiography, pericardial effusion was detected in 7out of 12 rats (58%). 4) Compared to baseline, end-diastolic dimensions were increased from 7.01+/-0.69 to 7.74+/-1.25 mm (p<0.001), end-systolic dimensions were increased from 4.13+/-0.69 to 5.22+/-1.12 mm (p<0.05), and interventricular septal and posterior wall thickness at end-systole and end-diastole were significantly decreased (p<0.05, respectively). 5) Fractional shortening was decreased from 43.0+/-6.8 to 32.7+/-8.0%, compared to baseline (p<0.05). 6) E/A ratio of mitral inflow changed significantly from 1.63+/-0.36 to 2.78+/-1.0, compared to baseline (p<0.05). CONCLUSION: Adriamycin administration at total cumulative dose of 15 mg/kg body weight over 2 weeks creates a reliable model of non-ischemic dilated cardiomyopathy in rats with a high success rate. Transthoracic echocardiography using a 15 MHz transducer provides adequate images for assessing the cardiac function and morphology in follow-up studies in adriamycin-induced cardiomyopathy of rats. These results suggest that transthoracic echocardiography using a 15 MHz Transducer is a promising tool for an assessment of adriamycin-induced cardiomyopathy in small animals.

Correlation of Parameters of Superior Vena Caval Flow with Transtricuspid Flow Pattern

BACKGROUND: Pulmonary venous flow velocity pattern (PVFVP) is widely used to assess LV diastolic function. It is known that the parameters of PVFVP have a significant correlation with the ratio of peak early diastolic filling velocity (E) to peak filling velocity at atrial contraciton (A) measured in the transmitral flow. However, the correlations between parameters of superior vena caval flow (SVCF) and transtricuspid E/A ratio have not been reported. Therefore the present investigation was performed to elucidate these correlations. METHODS: Fifty patients (26 men, mean age 63.1+/-11.1 years), who did not have significant tricuspid valvular disease and restrictive filling pattern on tricuspid and superior vena caval doppler, were included in this study. SVCF was recorded with the transducer positioned at subxiphoid area and the sample volume placed 2 cm within the superior vena cava. Blood flow across the tricuspid valve was obtained from standard four chamber view or modified parasternal four chamber view with the sample volume placed on leaflet tips. Recording was made during midexpiratory apnea. The following doppler parameters were measured: transtricuspid E and A velocity, E/A ratio: systolic (S) and diastolic (D) peak velocities and time velocity integrals (TVI), S/D velocity ratio, S/D TVI ratio, atrial reversal peak velocity (ArV) and TVI (ArTVI) in SVCF. RESULTS: 1) In SVCF, S velocity (63.7+/-11.8 cm/s vs 73.4+/-13.6 cm/sec, p1. And D TVI (7.1+/-3.0 cm vs 5.2+/-3.1 cm, p1. 2) As E/A ratio increased, diastolic TVI (r=0.315, p<0.05) and D/S TVI ratio (r=0.448, p<0.001) increased, and ArTVI (r=-0.376, p<0.01) and ArV (r=-0.416, p<0.01) decreased. 3) As E peak velocity increased, SVCF D peak velocity increased (r=0.305, p<0.05). CONCLUSIONS: Tricusupid E/A ratio has positive correlations with D TVI and D/S TVI ratio, and negative correlations with ArTVI and ArV. But there were no correlations in S velocity, D velocity, and S/D velocity ratio as the relation of mitral E/A ratio with PVFVP.

A Case Report of Myocardial Infarction in Myxoma Patient with Normal Coronary Arteries

Left atrial myxoma is a common primary tumor which frequently presents systemic embolizations. Embolization in various systemic organs is often the first and sometimes the only symptom in patient with cardiac myxoma. However, coronary embolization from the left atrial myxoma is very rare clinical presentation. We experienced 57-year-old woman with a left atrial myxoma combined with inferior myocardial infarction who had no stenotic lesion in coronary angiography. The ergonovine spasm test was negative. In the interleukin-6 immunohistochemical staining, the extracellular matrix of myxoma stained abundantly with pink color. It can be considered as inferior myocardial infarction due to embolization from the myxoma, which is associated with interleukin-6. So, we report this case with review of literature for the first time in Korea.

Low-Density Lipoprotein Particle Size Distribution in Subjects with Coronary Artery Disease

BACKGROUND: Low-density lipoprotein (LDL) cholesterol has been shown to be a major risk factor for coronary artery disease (CAD) in animal studies, clinical trials, and observational epidemiologic studies. It has a hydrated density of 1.019 to 1.063 kg/L, a diameter of 20 to 30 nm, and displays beta-mobility on paper or agarose gel electrophoresis. With technique such as density gradient ultracentrifugation and gel electrophoresis, it is possible to separate lipoproteins accurately on the basis of their density, charge, and particle size. Further, it has been shown that a smaller LDL is associated with an increased risk of coronary artery disease, even when total cholesterol level is only slightly raised. The aim of this study was to analyze LDL particle size distribution in patients with angiographically confirmed coronary artery disease and in control subjects, using nondenaturating gradient polyacrylamide gel electrophoresis, and to investigate the relationship between LDL particle size and the other traditional coronary risk factors. METHODS: Baseline characteristics such as age, sex, body mass index, history of hypertension or NIDDM, smoking habits, and plasma lipoprotein profiles were obtained in 33 and 27 subjects with and without CAD angiographically confirmed, respectively. We determined LDL peak particle diameter (LDL-PPD) using nondenaturating gradient polyacrylmide gel electrophoresis in CAD and control group. 4% to 12% polyacrylamide gradient gels were used for this assay, and the diameters of LDL subclass peaks were calculated by comparison with a standard calibration curve. This procedure permits the assignment according to distribution of particle diameters as exhibiting pattern A, B, or INT. RESULTS: Traditional coronary risk factors (age, sex, body mass index, history of hypertension or NIDDM, smoking habits, plasma triglyceride, HDL-cholesterol, and total to HDL-cholesterol ratio) were found to be significantly different between two groups, except the plasma total cholesterol and LDL-cholesterol. The mean value of LDL-PPD in patients with CAD was significantly lower than that in control subjects (26.110.4 nm versus 27.011.9 nm, p=0.006). LDL-PPD showed relatively strong associations with plasma triglyceride (r= - 0.536, p<0.01), HDL-cholesterol (r=0.497, p<0.01), and total to HDL-cholesterol ratio (r= - 0.516, p<0.01), but showed no relation to total cholesterol (r= - 0.168) or LDL-cholesterol (r= - 0.028). CONCLUSION: These results suggest an association between small LDL and the presence of CAD and also suggest that LDL-PPD may be associated with the plasma lipid levels.

A Case of Noonan Syndrome Combined with Infundibular Pulmonic Stenosis

The Noonan syndrome is a rate clinical syndrome associated with similar congenital abnormalities, that is characteristics of Turner syndrome, such as short stature, webbed neck, low posterior hairline, cubitus valgus, shield chest or funnel chest, congenital features similar to Turner syndrome but with a normal karyotype, and Opitz et al. proposed the name "Noonan syndrome" for this condition in 1965. We experienced a 31-year old man with Noonan syndrome combined with valvular and infundibular pulmonic stenosis who had short stature, webbed neck and normal karyotype. So we report a case Noonan syndrome with a review of literature.

Clinical Value of Exercise TI-201 SPECT in Patients with Chest Pain and Normal Coronary Angiogram

BACKGROUND: The interest of patients with chest pain and normal coronary arteries has been increased since 1960. From the year 1973, the syndrome representing these characteristics has been classified as syndrome X. Treadmill test and exercise TI-201 SPECT are important in the diagnosis of syndrome X. This study was designed to evaluate the clinical value of exercise TI-201 SPECT and the difference of clinical characteristics between exercise TI-201 SPECT positive(Group A) and negative (Group B) in patients with chest pain and normal coronary angiogram. METHODS: Twenty seven patients with chest pain and normal coronary angiogram underwent echocardiogram and exercise TI-201 SPECT. Patients received 2 mCi of thallium intravenously during exercise, redistribution images were performed 4 hour later and second dose of 1 mCi of thallium was injected at rest immediately thereafter. These three sets of image(stress, redistribution and reinjection) were analyzed. RESULTS: 1) 12 of 16 patients in Group A, none of 11 patients were positive on exercise treadmill test(p<0.005). 2) The incidence of systemic hypertension in Group A was significant greater than Group B(p<0.05). 3) The left ventricular end diastolic pressure was significantly higher in Group A than in Group B (p<0.05). CONCLUSION: The exercise TI-201 SPECT is a useful method to evaluate the patients with chest pain and normal coronary angiogram and the reversible perfusion defects on the exercise TI-201 SPECT might be related to systemic hypertension and elevated left ventricular end diastolic pressure.