To clarify the extent and chronology of surgical burden in relation to symptom onset and diagnosis in patients with mucopolysaccharidosis I (MPS I) as reported in the MPS I Registry, an international observational database.Analysis of surgical data from 544 patients enrolled in the MPS I Registry. Among all patients with at least 1 reported surgery, the number and frequency of procedures, and age at procedure, diagnosis, and symptom onset were collected overall, by patient, and by reported phenotype (Hurler, Hurler-Scheie, Scheie).Overall and by phenotype, ∼75% of patients in the MPS I Registry reported at least 1 surgery. The most common were myringotomies and related procedures, hernia repair, adenoidectomy/tonsillectomy, and carpal-tunnel release. Median age at first surgery was <5 years. A median of 3 to 4 surgeries was reported per patient. By age 1.5, 4, and 10 years, respectively, 22%, 44%, and 54% of patients reported ≥2 surgeries. At least 1 surgery preceded diagnosis in 36%, 46%, and 63% of patients with Hurler, Hurler-Scheie, and Scheie, respectively.Pediatricians and pediatric surgeons need to be aware of the surgical burden of MPS I and be alert to its presenting signs and symptoms in children scheduled for surgery.

Since the Fontan procedure results in low pulsatile pulmonary blood flow similar to that seen in patients with a Glenn shunt, it may also be associated with abnormal distribution of flow to the lower lung lobes and with the development of pulmonary arteriovenous fistulae (PAVF). In 12 patients 0.8 to 4.5 years after Fontan procedure and in 20 patients 0.2 to 18 years after receipt of Glenn shunts we assessed ventilation (with '33Xe) and perfusion (after a peripheral injection of 99mTc-macroaggregated albumin) to compare upper to lower lobe distribution of blood flow with that in a control group. The presence of PAVF was assessed by radionuclide activity in kidneys and the brain and by a twodimensional echocardiographic contrast study. A decreased upper/lower lobe perfusion ratio was noted in 13 of 20 patients with Glenn shunts (65%) and correlated with the time after surgery (p < .05). Despite the shorter follow-up period, two of 12 (16%) patients who had undergone the Fontan procedure also had a decreased upper/lower lobe perfusion ratio, and one of these developed right heart failure. Brain and kidney radionuclide counts above control values were observed in all patients with Glenn shunts and in 11 of 12 patients who had the Fontan operation. However, in only five of 20 (25%) patients with Glenn shunts were PAVF confirmed by the two-dimensional echocardiographic contrast study. Three of the five patients with PAVF had Glenn shunts of long duration. While only two of five patients with PAVF had a decreased upper/lower lobe perfusion ratio at the time of the study, this abnormality may have been present in the other three at an earlier stage. Our data suggest that a decreased ratio of upper/lower lobe perfusion may be one of several factors associated with the development of PAVF after a Glenn shunt. Also, longer follow-up of patients who have had a Fontan procedure will be necessary to determine whether they are also a group at risk. Circulation 72, No. 3, 471-479, 1985. THE FONTAN procedure,' which establishes a right atrial-to-pulmonary arterial (RA-PA) communication, and its modification, which incorporates the right ventricle (RA-RV communication), result in low pulsatile pulmonary blood flow. This hemodynamic state is similar to the one observed after creation of a Glenn shunt (superior vena cava-to-pulmonary arterial anastomosis).2 It is well established that the Glenn shunt favors distribution of pulmonary flow to the lower lobe3 and that with increasing duration of shunt time, pulmonary arteriovenous fistulae (PAVF) can occur in From the Departments of Cardiology and Cardiovascular Surgery and the Division of Nuclear Medicine, The Hospital for Sick Children, and from the departments of Pediatrics, Surgery, and Radiology, The University of Toronto, Ontario. Address for correspondence: Marlene Rabinovitch, M.D., Department of Cardiology, The Hospital for Sick Children, 555 University Ave., Toronto, Ontario, Canada M5G 1X8. Received Oct. 22, 1984; revision accepted May 23, 1985. Vol. 72, No. 3, September 1985 the same area.4 Whether these PAVF result from the low pulsatile pulmonary blood flow or from the maldistribution of flow or are associated with other factors such as pulmonary hypertension in the unshunted lung5 is still unclear. If indeed low pulsatile pulmonary flow leads to maldistribution and the potential to develop PAVF, then patients who have had Fontan's procedure represent a group at risk. We therefore performed ventilation/perfusion lung scans to determine the distribution of pulmonary blood flow in patients after the Fontan procedure (RA-PA and RA-RV). We assessed the presence of PAVF by the scintigraphic appearance of 99mTc-macroaggregated albumin (MAA) in the brain and kidneys after a peripheral intravenous injection and by two-dimensional echocardiographic contrast studies. Our findings were compared with those obtained in patients with Glenn shunts and in normal subjects.

This report describes the use of cross-sectional imaging--echocardiography and contrast-enhanced computed tomography--to confirm the presence of a foramen-type defect of the left pericardium with herniation of the left atrial appendage.

Isoenzymes of creatine kinase (ATP:creatine phosphotransferase; EC 2.7.3.2; CK) were measured by electraphoresisin serum from cord blood and skin-puncture blood taken from 45 healthy full-term infants during the first three postnatal days. Mean total CK activities (in U/L at 30 #{176}C) were 185 in cord samples, 536 in samples taken between 5-8 h postnatally, 494 between 24-33 h, and 288 in the 72-100 h samples. Values for all three isoenzymes increased to a peak over this period, with the highest values generally being found in the samples taken 5-33 h after birth; the subsequent decline was most rapid for CK-BB. Serum CK isoenzymes in cord samples and those taken at 72-100 h in the 11 babies delivered by cesarian section did not differ significantly from those of babies delivered vaginally. However the postnatal increases in total CK, CK-MM, and CK-MB (but not in CK-BB) were significantly greater in those patients born by vaginal delivery. The reasons for the increases in CK isoenzymes after birth are not clear, but our results and reported studies on the ontogeny of CK suggest that CK-MB cannot be regarded as a “cardiac-specific” isoenzyme in the neonatal period.

Two hundred and seventy-six cases of esophageal atresia (EA) and tracheoesophageal fistula (TEF) (173 males and 103 females) were studied. A cardiovascular malformation (CVM) was the most common associated anomaly (79 cases, 32%). The most common extracardiac malformations (ECM) included skeletal, gastrointestinal, and urinary tract anomalies. There was a significantly lower mortality in patients without associated anomalies (5%) compared to those with a major CVM (41%) (P<.01) but not compared to those with a minor CVM (10%). No significant difference in survival could be attributed to the specific types of CVM, although the overall survival in those with a non-complex CVM (64%) was higher than in those with a complex CVM (12%). It was not possible to associate a particular ECM with a specific form of CVM, but the greater the number of ECMs present, the greater the likelihood of associated CVM.

To determine the sequelae of transient myocardial ischemia (TMI) in term infants, we reviewed clinical and investigative data in 59 infants (37 male, 22 female) with structurally normal hearts admitted over the 2-year period of 1983–1985. Twenty-three were diagnosed prior to admission as cases of birth asphyxia (5-min Apgar score <6), and 36 had signs of persistent fetal circulation with electrocardiographie (ECG) changes of ischemia >24 h after birth. Murmurs of atrioventricular valve regurgitation (AVVR), detected in 28 patients, were confirmed in 23 of the 24 patients investigated. The murmurs resolved over a 2-day to 6-month period (median 6 days). In three patients, AVVR, left ventricular dyskinesia, and ECG anomalies persisted for 2 months (until death), 4 months, and 48 months. Initial ECGs were abnormal in 57 patients, and (of those reviewed) 60% returned to normal over a 6-day to 7-month period (median 2 months). Residual ECG anomalies included second-degree AV block and persistent ST-T wave changes. Ten patients died from noncardiac causes. Neither the presence nor resolution of AVVR correlated significantly with the severity of birth asphyxia using the Apgar score, nor with the severity of the ischemic changes on the ECG. Although the cardiovascular sequelae of myocardial ischemia are usually transient, the data should prompt the need for careful review after the initial admission.

Changes in the mobility of the pulmonary valve were determined by a retrospective review of right ventricular cineangiograms from 25 balloon pulmonary valvotomy (BV) procedures in 23 infants and children. The angiographic changes were compared with the post-BV catheter and Doppler pressure gradients across the right ventricular outflow tract. Angiographic features felt to indicate valve tearing were present following 17 of 25 procedures and included increased excursion or straightening of leaflets, localized change in leaflet motion (flail leaflet), and the presence of an additional contrast jet through the valve. There was no statistically significant relationship between any of the angiographic parameters and the pressure data. Most patients with marked increase in angiographic valve mobility had low residual right ventricular to pulmonary artery gradients. However, the absence of angiographic change was not always associated with a high residual gradient.

Four cases of an unusual form of aortico-right atrial communication are described. All patients were asymptomatic but had an atypical continuous murmur on examination. A distinctive appearance was noted on the angiograms, with a large tortuous tunnel noted superior to the left sinus of Valsalva, passing posterior to the aortic root before terminating near the right atrial-superior vena caval junction. This structure was readily identified by two-dimensional echocardiography. The defect was successfully closed surgically in three of four patients. The presence of normal major coronary arteries and absence of any small myocardial coronary branches from the tunnel argues against the structure being a coronarycameral fistula and supports the diagnosis of aortico-right atrial tunnel.

Between 1970 and September 1984, only tissue (T, n = 83) or Bjork-Shiley (B-S, n = 59) prosthetic valves have been used for left-sided valve replacement at The Hospital for Sick Children, Toronto. A total of 108 infants and children underwent aortic (AVR, n = 59) and/or left atrio-ventricular (MVR, n = 49) valve replacement.

The association of ventricular septal defect (VSD), aortic valve prolapse, and aortic regurgitation is well described. Recent studies have described the natural history and the anatomic types of VSD [1]. Others have investigated the angiographic appearances of the prolapsing valve cusp, while controversy still surrounds the role and timing of surgical intervention [2]. Two-dimensional echocardiography (2-D echo) is now extensively employed to identify and define the position, size, and margins of VSDs [3]. A prolapsing aortic valve cusp may also be visualized, and the addition of ultrasonic Doppler detects the presence of any associated aortic regurgitation. The aims of this study are to describe the echocardiographic features of aortic valve prolapse in association with VSD and to correlate the findings with angiographic and surgical data.

Qualitative phase analysis of radionuclide angiocardiograms has been applied in pediatric nuclear cardiology. The technique involves the static and dynamic display of phase images. Qualitative phase analysis is valuable in two major images: (a) delineating borders of adjacent cardiac chambers such as the AV valve planes and the borders of the right ventricular outflow tract, for accurate selection of regions of interest, and (b) identifying and evaluating patterns of asynchronous contraction. Radionuclide angiography with phase analysis is a safe, noninvasive, and easily repeatable assessment of cardiac function well suited to patients with congenital heart disease.

Thirteen patients with hypertrophic cardiomyopathy (HCM) who presented by 2 years of age were evaluated. All had been referred because of a heart murmur. Four had positive family histories for HCM and 2 had congestive heart failure. Cardiothoracic ratios ranged from 0.43 to 0.70 (mean 0.56). In 12 cases, electrocardiograms showed abnormal Q waves, ventricular hypertrophy, or aberrant rhythms. Resting peak systolic pressure differences ranged from 0 to 92 mm Hg (mean 21.1) across the right ventricular outflow tract, and from 0 to 112 mm Hg (mean 36) across the left ventricular outflow tract (LVOT). Cardiac angiography showed evidence of asymmetric septal hypertrophy (ASH) in all patients, LVOT obstruction in 3, and aortic and mitral insufficiency in 1. Six patients received no therapy, 6 were treated with propranolol, and 3 were treated with left ventricular myomectomy. During follow-up (mean 6.1 years), no patient died and 10 became or remained asymptomatic. The apparently favorable clinical course observed in these patients during this period of follow-up may be related to early treatment, made possible by the early diagnosis.

Two-dimensional echocardiography (2DE) was used to study 51 neonates in whom coarctation of the aorta had been diagnosed clinically. In 40 patients, studies showed coarctation or arch interruption that was later confirmed at angiography, surgery, or autopsy. Of the remaining 11 studies, one gave a false positive result, one was technically poor, three had echocardiographic evidence of only mild arch narrowing and are being followed clinically, and six were negative. There were two false negative studies. Four studies were apparently true negatives. Many additional lesions were correctly identified by echocardiography although some, such as patent ductus arteriosus and small ventricular septal defect, were frequently missed. Twelve patients underwent surgery without preoperative catheterization. 2DE has proven extremely useful in confirming the diagnosis of neonatal coarctation of the aorta and sometimes obviates the need for invasive catheterization.

Ischemic myocardial damage was identified as a complicating feature in the clinical course of 12 newborn infants who died in congestive failure with cerebral arteriovenous malformation. Electrocardiograms of 11 patients showed signs of chamber hypertrophy and T wave and ST segment features of varying degree compatible with ischemia or infarction. Histological evidence of myocardial necrosis or infarction was detected in seven of the ten infants from whom autopsy material was still available.