Faculty Bibliography

The May-Hegglin anomaly is a rare autosomal dominant platelet disorder that can be associated with significant bleeding. We treated a patient for pregnancy complicated by the May-Hegglin anomaly and a complete placenta previa

Obstruction to pulmonary venous return may be associated with a number of congenital cardiovascular abnormalities occurring both before and after surgery. Hemodynamic assessment by cardiac catheterization is often difficult. A noninvasive method for detection and quantitation of obstruction to systemic ventricular inflow would be clinically useful. Two-dimensionally directed pulsed and continuous wave Doppler echocardiography was performed before cardiac catheterization in 31 patients thought clinically to have possible obstruction to left ventricular inflow or pulmonary venous return. Primary diagnoses included transposition of the great arteries after the Mustard or Senning procedure in nine patients, total anomalous pulmonary venous connection in nine (in two after surgical repair), cor triatriatum in eight (in four after surgical repair), congenital mitral stenosis in four (in one after surgical repair) and mitral atresia in one. Severe obstruction was defined as a mean pressure gradient at catheterization of greater than or equal to 16 mm Hg at any level of the pulmonary venous return or of the systemic ventricular inflow. Severe obstruction was predicted if Doppler examination measured a flow velocity of greater than or equal to 2 m/s across any area of inflow obstruction. At catheterization, 12 patients (39%) had severe obstruction to left ventricular inflow or pulmonary venous return and all obstructions were correctly detected by Doppler echocardiography. The site of pulmonary venous obstruction was localized by two-dimensionally directed pulsed Doppler study. Patients with a lesser degree of obstruction had a lower Doppler velocity, but none had a maximal Doppler velocity of greater than or equal to 2 ms/s.(ABSTRACT TRUNCATED AT 250 WORDS)

Combined two-dimensional and Doppler echocardiography has a high sensitivity and specificity for detection of isolated perimembranous ventricular septal defects. However, muscular or multiple ventricular septal defects may be difficult to diagnose with noninvasive methods, particularly in older children, necessitating angiography for accurate diagnosis. Detection of single and multiple ventricular septal defects with two-dimensional color flow mapping was compared with detection by standard two-dimensional imaging and Doppler. Both techniques were compared with four-chamber left ventricular angiography. Fifty-one patients (age 3 months to 25 years, mean 5.6 years) were studied. Eighteen had solitary ventricular septal defects, 18 had multiple ventricular septal defects, and 15 patients with intact ventricular septum served as a control group. At least one ventricular septal defect was detected by color Doppler and two-dimensional/Doppler methods in all patients with ventricular septal defect proved by angiography with no false positives. In the detection of multiple ventricular septal defects, the sensitivity of color Doppler was 72% and that of two-dimensional/Doppler was 38% (100% specificity in both). Color Doppler failed to identify multiple ventricular septal defects in five patients (two weighing less than 4 kg and three with reduced pulmonary blood flow). However, no large additional muscular defects were missed by imaging and color Doppler. Color Doppler is useful for the detection of ventricular septal defects and has higher sensitivity than two-dimensional/Doppler for multiple ventricular septal defects. The contribution of color Doppler appears to be in the detection of additional small muscular ventricular septal defects

Typing for HLA-A,B,C and DR antigens was performed in 61 Israeli patients with juvenile chronic arthritis (JCA) and in 120 unrelated controls. No significant associations were apparent in the overall patient group. DR5 was significantly increased in the non-Ashkenazi patients with pauciarticular onset of disease. The only three DRw8 positive patients in the study had pauciarticular onset. DR5 and DRw8 were found in 9 of 10 patients with age of onset less than 3 years. Increased frequencies of Bw50 and Cw6 were observed in patients with systemic onset. Typing for properdin factor (Bf) and glyoxylase (GLO) was carried out in 45 and 50 of the patients, respectively. No associations with alleles of the complement Bf system or the HLA linked GLO system were evident. The confirmation in the ethnically distinct Israeli population of the previously described association of DR5 with pauciarticular JCA suggests that this gene may be closely related to the disease susceptibility gene

A child with chronic granulomatous disease developed an antral-pyloric obstruction, followed a month later by a postbulbar duodenal obstruction. At both areas, there was no evidence of an anatomical lesion, and some improvement in the passage of barium was observed following glucagon and metoclopramide administration. Presumably, symptoms have resulted from a functional disturbance of gastrointestinal motility

Continuous-wave Doppler was used to estimate the pressure gradient between the right and left ventricles in 28 children with ventricular septal defect (VSD). Doppler measurement of maximal velocity was performed during cardiac catheterization and the Doppler-predicted gradient was compared with the peak-to-peak gradient measured simultaneously by catheter. Doppler gradients ranged from 10 to 71 mm Hg and correlated well with measured gradient (r = 0.97, p greater than or equal to 0.001). Fourteen patients had isolated VSD, and in these patients Doppler measurements of gradient allowed accurate estimation of right ventricular pressure (r = 0.93). There was an inverse correlation between the ratio of pulmonary to systemic resistance and maximal velocity (r = -0.77). Thus, continuous-wave Doppler is an accurate means of measuring instantaneous VSD pressure gradient in children with congenital heart disease and can be used to estimate the right ventricular and pulmonary artery pressure in children with isolated VSD. This noninvasive method can be used to distinguish restrictive from nonrestrictive VSD

A rare case of an intracardiac undifferentiated sarcoma in a 3 month old infant is described together with the clinical, angiographic, echocardiographic, surgical and histopathologic findings. The tumor was successfully removed surgically, and monthly echocardiographic follow-up is being performed

Sixteen infants, ages 6 weeks to 23 months, were evaluated because of syncopal attacks (n = 6), apneic episodes (n = 3), or a combination of syncope, apnea, or 'convulsions' (n = 7). Comprehensive metabolic and neurologic investigations yielded negative results in 15 infants; in one, an abnormal EEG was recorded. Severe sinus bradycardia, complete sinus arrest, junctional escape rhythm, or ventricular escape rhythm was found in four patients, and permanent multiprogrammable pacemakers were implanted. Follow-up for 6 to 24 months with ventricular demand pacing showed complete cessation of attacks in two infants and marked improvement in two