A cardio-facio-cutaneous syndrome case with tight Achilles tendons.

Cardio-facio-cutaneous syndrome (CFCS) is a multiple congenital anomaly disorder characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay. Clinical findings of patients with CFCS show similarities to those of patients with Costello Syndrome (CS). CFCS and CS are caused by mutations in genes encoding proteins of the RAS-MAPK signaling pathway. Musculoskeletal findings including tight Achilles tendons and contractures of elbows, shoulders or hips have been reported in CS patients. However, limited extension of joints were observed in some patients with CFCS. According to the literature, no tight Achilles tendons have been reported in CFCS patients so far. In this case report, we present a male CFCS patient with tight Achilles tendons with a de-novo heterozygote N581D mutation in the BRAF gene detected by DNA sequence analysis.

Complications of pediatric cardiac catheterization: 18-month study.

Pediatric cardiac catheterization may be indicated under certain conditions, but is associated with some risk. The purpose of the study was to evaluate the complications associated with diagnostic and interventional catheterization procedures done over an 18-month period in our laboratory. Of the 230 cardiac catheterizations, 204 were solely diagnostic in nature. Eleven percent were interventional catheterizations including aortic and pulmonary valvuloplasties and balloon atrial septostomy. Six percent of the patients constituted grown-up congenital heart disease (GUCH). The median age was 34 months excluding the GUCH group. There was one death below one year of age (0.4% mortality) occurring six hours after the diagnostic catheterization; it was attributed to the underlying disease. There were eight complications (3.4%) that we would consider serious, including atrial flutter, ventricular tachycardia, severe hypercyanotic spell, seizure, transient complete heart block, peripheral vascular injury which resulted in pseudoaneurysm formation of the femoral artery requiring surgical intervention, and transient pulse loss. When catheterization is necessary, it should be carried out as efficiently as possible with awareness of conditions that probably increase the risk of a clinically important event. Although patients undergoing cardiac catheterization are now younger and have more complex cardiac abnormalities, the procedure seems to have become safer when compared to previous literature.

Noninvasive diagnosis and surgical management in total anomalous pulmonary venous return draining into the coronary sinus: report of 2 cases.

Total anomalous pulmonary venous return results from nondevelopment of the common pulmonary vein, with consequent enlargement of embryonic collaterals between the lungs and the systemic veins. In this report, two patients with this anomaly draining into the coronary sinus who presented in infancy are described. One of the patients was referred because of growth and development failure and chronic constipation, while the other had tachypnea as the presenting problem. Both were diagnosed during the echocardiographic examination. Typical echocardiographic findings were a small left atrium, a sausage-shaped dilated coronary sinus receiving the pulmonary veins in the subcostal short axis, and flying seagull configuration in the subcostal long axis views. Both had a large interatrial communication. The patients underwent corrective surgery. The aim of the presentation is to emphasize the role of segmental echocardiography in the differential diagnosis.

The urological manifestations of the tethered spinal cord.

The tethered cord is the fixation of the cord resulting in stretching as growth occurs. In this paper, three cases of tethered cord with symptoms related to the urinary tract were presented. In the first case, a 12-year-old girl presenting with abdominal pain and urinary incontinence had bilateral hydronephrosis and neurogenic bladder due to a tethered cord without having any other neuropathological manifestation. In the second case, an eight-year-old girl presented with enuresis and a mass in her back was found to have a lipomyomeningocele, hyperactive tendon reflexes in the lower limbs and pes cavus. Tethered cord associated with lipomyomeningocele caused a neurogenic bladder and bilateral hydronephrosis. In the third case, a seven-month-old girl presented with hydrocephalus as well as bilateral dilation of the renal pelvis, unilateral ureteral duplication and vesicoureteral reflux. A tethered cord was revealed in this patient, who had a meningomyelocele operation in the neonatal period. Renal function test in the first two cases were abnormal.

Noncompaction of the right ventricle following Senning repair.

A three-year-old boy presented with generalized edema, respiratory distress, prominent right ventricular impulse and hepatosplenomegaly. He had undergone Senning repair at one year of age. On his echocardiography, there were numerous prominent trabeculations and deep intertrabecular recesses measuring approximately 5 mm in depth along the free wall and right ventricular apex. Echogenicity of the endocardial surface was increased suggesting a fibrotic process in progress. Intertrabecular recesses were observed to be filling from the ventricle by color Doppler which is consistent with noncompaction. Various semilunar valve obstructions were shown to be responsible for the persistence of deep endomyocardial spaces surrounded by exeggerated hypertrophy of the trabeculae. This report presents the echocardiographic findings of right ventricular cardiomyopathy associated with dextroposition of the great arteries following Senning operation resembling noncompaction. Thus, this rare entity needs to be clarified regarding morphological criteria in distinction from other cardiomyopathies.

Non-invasive diagnosis and management of coronary arteriovenous fistula. A case report.

Coronary arteriovenous fistulas are rare anomalies resulting in abnormal communication between the coronary artery and any chamber of the heart. An asymptomatic patient was referred for evaluation of her murmur. Two-dimensional and color Doppler echocardiographic evaluation revealed an enlarged left main coronary artery. A retrograde, eccentric small jet was found within the right ventricular outflow tract at the pulmonary artery valvular level allowing us to detect the entrance site of the fistula. The diagnosis was confirmed by cardiac catheterization and angiocardiography. Although our case was asymptomatic, the decision to perform cardiac surgery was made because of the aneurysmatic appearance of the left coronary artery. In our opinion, visualization of coronary arteries by two-dimensional echocardiography, together with additional information obtained from the Doppler examination, provides an excellent technique for the noninvasive diagnosis of coronary artery fistula.

Urinary enzyme changes in children undergoing cineangiographic evaluation using iopromid.

Nephropathy due to radiocontrast media presents with a wide spectrum of changes from reversible renal dysfunction to oliguria requiring dialysis. Nineteen patients (mean age 4.5 +/- 3.7 years) were included. Mean +/- SD values of the variables obtained before and 48 hours after angiography were the following: plasma creatinine: 0.6 +/- 0.10 and 0.6 +/- 0.16 mg/dl; endogenous creatinine clearance: 76.1 +/- 17.0 and 80.9 +/- 19.3 ml/min/1.73 m2; plasma osmolality: 279 +/- 23 and 298 +/- 39 mOsm/kg H2O; urine osmolality: 429 +/- 225 and 459 +/- 196 mOsm/kg H2O; fractional sodium excretion: 2.1 +/- 1.3% and 2.4 +/- 1.3%; plasma uric acid: 3.9 +/- 1.3 and 3.4 +/- 1.0 mg/dl; urinary AST/creatinine: 5.2 +/- 4.8 and 4.2 +/- 2.6 mU/mg; ALT/creatinine: 16.8 +/- 12.4 and 15.3 +/- 12.6 mU/mg; LDH/creatinine: 52.0 +/- 39.6 and 42.3 +/- 31.5 mU/mg; NAG/creatinine: 20.1 +/- 2.8 and 16.8 +/- 2.3 mU/mg, respectively. The changes in renal function parameters and urinary enzyme levels were insignificant statistically (p > 0.05). In conclusion, iopromid injection at maximum doses of 5 ml/kg does not result in injury to the tubular epithelium leading to increased urinary enzyme levels.

Investigation of relationship between idiopathic hypercalciuria and urinary enzyme activities.

In patients with uncomplicated idiopathic hypercalciuria renal function is normal except for increased renal calcium excretion. In this study, the level of fractional urinary enzyme excretion was assessed in relation to calciuria. Fourteen patients with a mean age of 5.8 +/- 0.8 years who had daily urinary calcium excretion more than 4 mg/kg and with otherwise normal renal function tests were included in the study. None of the patients manifested either renal calculus or nephrocalcinosis. Fourteen normal children with a mean age of 5.4 +/- 0.74 were included in the control group. The level of the urinary N-acetyl beta-D glucosaminidase (NAG) to creatinine ratio, fractional aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), and lactate dehydrogenase (LDH) excretion were not significantly different compared to the control group (p > 0.05). The patients were subdivided according to the type of hypercalciuria. The levels of NAG/creatinine ratio, fractional ALT, AST, ALP, LDH excretion were not significantly different in the absorptive type of calciuria group compared to the control group (p > 0.05). In conclusion, hypercalciuria during childhood which is 6.46 +/- 1.83 mg/kg/day is not related to the levels of NAG/creatinine ratio, fractional ALT, AST, ALP and LDH excretion in urine.

Transient right sided hypertrophic cardiomyopathy in an infant born to a diabetic mother.

Hypertrophic cardiomyopathy (HCM) is a rare primary myocardial disease, characterized by hypertrophy of the left and/or right ventricle. Infants of diabetic mothers (IDM) are at risk for development of HCM, respiratory distress and persistent pulmonary hypertension. A case of severe right sided HCM in an infant born to a diabetic mother is presented. The patient's findings were complementary to the previous observations reporting HCM in IDM. The presence of disproportionate septal hypertrophy in the echocardiography of an infant born to a diabetic mother is highly suggestive of HCM in IDM. In our opinion, further cardiac evaluation is not indicated unless other cardiac abnormalities are suspected.

Cardiac functions by myocardial performance index and QT dispersion in survivors of childhood lymphoblastic leukaemia.

AIM: Childhood leukaemia treatment contains multiple chemotherapeutic agents in high doses that can cause severe toxic effects on heart and other vital organs. In this respect patients taking cancer chemotherapy are followed for these adverse effects. Echocardiographic myocardial performance index (MPI) was reported as a new method of combined systolic and diastolic function for both adults and children, calculated as isovolumic relaxation time plus isovolumic contraction time divided by ejection time. In addition, it has been postulated that increased inter-lead differences in QT interval (QT dispersion) may be associated with an increased risk of cardiac death. The aim of this study was to determine the probable immediate and late adverse effects of childhood leukaemia treatment containing moderate dose of anthracyclines on heart by MPI and corrected QT dispersion (QTcD). METHODS: MPI and QTcD in 55 children with leukaemia and 38 healthy controls matched for age and sex were evaluated. RESULTS: There was no statistically significant difference between MPI values of patients and controls (20.7+/-13.1 (1-59.4) and 16.1+/-13.5 (0.3-77.5), P: 0.1, respectively). Also, there was no significant difference in MPI and QTc values between patients taking active treatment and those who completed the therapy and between the patients given a cumulative dose of anthracycline lower and higher than 250 mg/m2. But QTcD values were found to be higher in patients than controls (0.08+/-0.03 and 0.03+/-0.01, P<0.01, respectively). CONCLUSIONS: There was no overt cardiotoxicity in our children with leukaemia treated with protocols of ALL BFM 95 and TRALL 2000 (Modified BFM in Turkey) containing moderate dose of anthracyclines. However, they can cause subclinical cardiotoxicity and further monitoring and evaluation with such sensitive and noninvasive methods over a longer period of time are needed.

The use of the handgrip maneuver to identify left ventricular diastolic function abnormalities by Doppler echocardiography in patients with coronary artery disease.

Doppler echocardiography accurately identifies diastolic dysfunction through the assessment of transmitral flow patterns during the application of the handgrip (HG) maneuver. In this study, 45 normal control patients (mean age 46 +/- 9, group A) and 13 patients with coronary artery disease (CAD) (mean age 51 +/- 6, group B) were involved. The effects of handgrip maneuver on transmitral flow patterns were studied by Doppler echocardiography. Group B patients had higher peak late diastolic filling velocities (A), lower peak early (E) to late diastolic filling velocity ratios (E/A) and longer isovolumic relaxation times (IVRT) compared to group A. On the other hand, systolic blood pressure (SBP), heart rate (HR) and peak E velocity (E) did not change significantly (p > 0.05) in either group, at rest. During the supine handgrip maneuver, NR (mean +/- standard error of mean, +21 +/- 13%, p < 0.05) and SBP (+21 +/- 9%, p < 0.05) increased significantly in both group A and group B (+21 +/- 13%, p < 0.05, +22 +/- 15%, p < 0.05, respectively). In group B, E/A ratio (-28 +/- 7%) decreased significantly (p < 0.05) compared to group A (-20 +/- 6%), as a consequence of significantly increased peak A velocity in group B (+7 +/- 5%) compared to group A (+6 +/- 3%, p < 0.05). Deceleration time decreased significantly in both groups (-10 +/- 6% vs -9 +/- 6%, p < 0.05). Isovolumic relaxation time (IVRT) significantly increased in both groups (+18 +/- 7% vs +16 +/- 6%, p < 0.001).(ABSTRACT TRUNCATED AT 250 WORDS)

Effects of high-dose intravenous methylprednisolone in children with acute rheumatic carditis.

In order to measure the effects of high-dose intravenous methylprednisolone (HIVMP) and compare its efficiency with that of oral prednisolone (OP), 18 patients with active rheumatic carditis were studied. Ten patients received OP, while eight patients were treated with HIVMP. Clinical and laboratory responses to treatment were followed by sleeping pulse rate, systolic blood pressure, erythrocyte sedimentation rate (ESR), cardiothoracic ratio (CTR), PR interval on electrocardiogram, spectral and color flow imaging and Doppler echocardiographic findings; mitral and aortic regurgitant jet flow area, left atrial area, proximal width of mitral regurgitant jet area and regurgitation fractions. The results of patients in the HIVMP group showed statistically significant changes in ESR and CTR when compared with the patients receiving OP, and the recovery was more rapid. HIVMP therapy can be considered as a new method of treatment for acute rheumatic carditis.

A comparison of left ventricular volumes and regurgitant fraction by Doppler echocardiography and angiography in children.

Regurgitant fraction calculations by echocardiography were compared to angiocardiography in 11 patients with mitral regurgitation. Although there was a very good correlation when compared with angiocardiography (r = 0.99, SEE: 6.26, P < 0.001), two-dimensional echocardiography underestimated left ventricular end-diastolic volumes (P < 0.05). The mean regurgitant fraction was 36.2 +/- 13.5% by echocardiography and 43.6 +/- 15.7% (P < 0.05) by angiography. Most of the variability in measuring the regurgitant fraction is attributed to the left ventricular volume measurements. In conclusion, regurgitant fraction calculations of mitral regurgitation by echocardiography compares favorably to angiography. Since the severity of mitral regurgitation is an important determinant of prognosis, quantification of the regurgitant fraction may be useful in the long term follow-up of those patients.