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We studied a series of 42 cases of transposition of the great arteries (TGA), a complex heart defect (CHD) that is two times more prevalent in males than in females. A mutation in the X chromosome at the ZIC3 gene was found in two affected siblings (one male, one female) and their unaffected mother. A second factor, skewed X-inactivation pattern explained the discrepancy between the daughter/mother phenotype. In this family, the missense mutation (p.W255G) was found in the first zinc finger of ZIC3, a domain that is relatively specific to each of the five human ZIC genes. It was tested further along with two other mutations of this domain (p.C253S and p.H286R). In transfected 3T3 cells, mutants p.W255G and p.H286R expressed lower protein levels, and an increased protein degradation (p.W255G only). Moreover, mutants p.C253S and p.W255G had a decreased transcription activation of the TK-luciferase reporter gene. Nuclear translocation of the three ZIC3 mutants varied considerably depending on the experimental models. Finally, p.W255G and p.H286R showed diminished activities for both left-right axis disturbance and neural crest induction in Xenopus embryos. These results suggest that mutations in the first zinc finger of ZIC3 mildly affect several functions of the protein.

Two children with patent ductus arteriosus and associated right aortic arch underwent successful transcatheter coil occlusion. Recognition of ductal anatomy and ensuring that no symptomatic vascular ring is present are important prior to embarking on ductal occlusion. It is concluded that coil occlusion of patent ductus arteriosus in association with right aortic arch is feasible, safe, and effective.

Recent reports suggest reopening of the patent ductus arteriosus (PDA) after complete occlusion with three-loop Gianturco coils. We hypothesize that five-loop coils may produce a larger thrombus than three-loop coils, which will result in no or less probability of recanalization of PDA during follow-up. This study is designed to test this hypothesis. Follow-up echocardiographic and Doppler data of 30 patients who underwent five-loop coil occlusion of small to medium-sized PDA during a 33-month period ending December 1998 were examined. Thirty patients had no residual shunt on echo Doppler study on the day following the procedure and were followed for 6 to 30 months (median, 12) after coil implantation. At the last follow-up study, none of the patients had a residual shunt and left atrial size decreased. Careful pulsed, continuous wave, and color Doppler interrogation of left/main pulmonary artery junction and proximal descending aorta did not reveal any evidence for obstruction. The follow-up data suggest that complete occlusion of small- to medium-sized PDAs is feasible with five-loop coils without evidence for recanalization at a mean follow-up of 12 months. Much longer (2 to 5 years) follow-up data may be necessary to confirm these observations. We speculate that a greater degree of thrombosis is produced within the ductus by the five-loop coils, which in turn may be responsible for lack of shunt recurrence. We recommend use of five-loop instead of three-loop coils for transcatheter occlusion of small- to medium-sized PDAs. Cathet. Cardiovasc. Intervent. 50:202–206, 2000. © 2000 Wiley-Liss, Inc.

the feet was appreciated. Bilateral hydroceles were noted. Results of neurologic examination were normal. A chest x-ray film showed marked cardiomegaly and normal pulmonary vascularity. Sinus tachycardia was apparent from the electrocardiogram with a heart rate of 160/min, QRS axis 120°. The PR interval was shortened to 0.08 seconds; there was severe biventricular hypertrophy with ST-T wave changes. The echocardiogram revealed severe left and right ventricular hypertrophy with compressed ventricular cavities (Fig 1). The left ventricular end-diastolic dimension was 18 mm (normal, 20 mm), and the end-systolic dimension was 6 mm (normal 13 mm). The left ventricular end-diastolic wall thickness was 12 mm (normal, 3.5 mm). The left ventricular shortening fraction was increased to 50%. There was anterior motion of the mitral valve during systole, and Doppler study showed mild subaortic obstruction. There was no aortic valve stenosis or coarctation of the aorta. Results of a skeletal survey were normal. Initial laboratory evaluation revealed: creatine kinase, 17.10 microkatal (μkat)/L (normal, 0.50 to 3.67 μkat/L [1026 U/L; normal, 30 to 220 /U/L]); serum total carnitine, 11 nmol/mL (normal, 17 to 46 nmol/mL); free carnitine, 8 nmol/mL (normal, 10 to 29 nmol/mL); urine catecholamines, 8 μg/24 h (normal

We report on 4 of 9 sibs with a syndrome of stenosis of the renal arteries and chronic hypertension, variable stenosis or occlusion of cerebral, abdominal and probably coronary arteries due to suspected fibromuscular dysplasia, congenital cardiac abnormalities, brachydactyly and syndactyly of the hands and feet, and increased bone fragility consistent with a mild form of osteogenesis imperfecta. Three affected individuals have had mild to moderate learning disabilities. The parents and the remaining 5 sibs have normal hands and feet and no history of excessive fractures. Individual components of this syndrome may appear as isolated conditions, including fibromuscular dysplasia, brachydactyly, syndactyly, and osteogenesis imperfecta, and are autosomal dominant traits in many cases. Explanations for this familial occurrence include autosomal recessive inheritance, autosomal dominant inheritance with decreased penetrance, or parental gonadal mosaicism for a mutation involving a single gene or several contiguous genes.

Treatment of heart failure should include correction of the underlying cause. These causes include large left to right shunts, obstructive lesions, arrhythmias, primary myocardial disease etc. The main pharmacological therapy includes inotropic agents, vasodilators and diuretics. Inotropic agents increase myocardial contractility and include digoxin, intravenous dopamine, dobutamine and isoproterenol. Vasodilators improve cardiac pump performance by decreasing the vascular resistance and/or increasing the venous capacitance. Commonly used vasodilator agents include angiotensin converting enzyme inhibitors (captopril, enalapril etc.), hydralazine, prazosin hydrochloride etc. Diuretics inhibit salt and water reabsorption promoting their excretion. Furosemide, thiazide diuretics, aldactone, are commonly used diuretics. Electrolyte and acid-base imbalance can occur on chronic diuretic therapy. Cardiac transplantation is considered for patients where all medical management has failed.

Coil occlusion of patent ductus arteriosus with 5-loop coils was undertaken in 10 patients without coil embolizations, and with 90% immediate occlusion and 100% occlusion at follow-up. We conclude that 5-loop coil occlusion of patent ductus arteriosus is safe and effective.

Previous familial cases of recurrent hetero-taxia have suggested an autosomal recessive or exceptionally X-linked or dominant inheritance. Here, we report six families including 18 affected members, consistent with autosomal dominant inheritance. Among these, four families have more than one case of heterotaxia. The other two families have one member with heterotaxia and at least one other affected member with an “isolated” heart malformation, which could be considered as a mild form of heterotaxia. In five families, the disorder is transmitted through two or three generations. In one family, the patients are of the same generation but are linked to each other by obligate carriers. We suggest a rule to classify these families with heart malformations, according to the etiologic factor involved (rule of precocity). This rule might be useful to other disruptions of morphogenetic processes. © 1995 Wiley-Liss, Inc.

Previous studies have indicated that the definitive diagnosis of anomalous origin of the left coronary artery from the pulmonary trunk (ALC) should be made by cardiac catheterization and angiography. This study evaluates echocardiography (two-dimensional, pulsed Doppler, and color flow mapping) as a method to establish the diagnosis of ALC. To diagnose ALC, a modified parasternal short-axis view was used to demonstrate continuity of the ALC with the pulmonary trunk and to detect the retrograde flow through the ALC into the pulmonary trunk. Absence of these imaging characteristics ruled out ALC. From June 1985 to January 1990, 16 patients who presented with or had previously had a dilated poorly contracting left ventricle were prospectively assessed by echocardiography to rule out ALC. Four patients had ALC (age 2 to 120 months, mean ± 1SD = 32 ± 59) and 12 patients (age 1 to 192 months, mean ± 1SD = 57 ± 80) had myocardiopathy. Two other patients with known ALC were evaluated by an observer unaware of the diagnosis. All coronary anatomy was confirmed by angiography, surgery, or autopsy. The correct diagnosis of coronary anatomy was obtained by echocardiography in all instances without false positive or false negative diagnosis of ALC. Three infants underwent surgical repair of ALC based only on the echocardiographic diagnosis. Echocardiography can be used to establish the diagnosis of ALC. Therefore surgical repair can be undertaken in some critically sick infants based on the echocardiographic diagnosis alone.

The clinical profile of 23 children with congestive cardiomyopathy was reviewed to detect any factors that might be predictive for their survival. Factors examined include age at onset (less than 2 versus greater than 2 years), gender, severity of the clinical picture including data from the chest radiograph, electrocardiogram (ECG), echocardiogram, hemodynamic study and endomyocardial biopsy. Follow-up study ranged from 1 month to 14 years (mean 43 months). There were 12 survivors and 11 nonsurvivors; the 1 year mortality rate was 30% (7 of 23), and the 5 year mortality rate was 44% (10 of 23). Age at onset, gender, cardiothoracic ratio on chest radiograph, pattern of infarction, ST-T changes or arrhythmia on ECG and left ventricular end-diastolic pressure were nonpredictive of outcome. However, low shortening fraction (mean 11.5% in nonsurvivors versus 20.9% in survivors, p less than 0.01), familial cardiomyopathy and endocardial fibroelastosis indicated a very poor prognosis.

Aberrant origin (ABO) of a coronary artery (CA) from the contralateral aortic sinus with a subsequent interarterial course is a life-threatening condition. It carries a 28% to 55% risk for a sudden coronary event or death, but there are no reliable screening methods.We sought to determine whether imaging a cross section of a coronary segment in the anterior aortic wall on the long-axis view may be used as an echocardiographic screening sign for ABO CA.The echocardiograms of all patients with ABO CA were evaluated for the screening sign and compared with those of age-matched control patients.Between January 1989 and October 2002, we identified 8 patients with ABO CA (median age: 15 years). Of these patients, 4 were symptomatic and 4 were discovered incidentally. The electrocardiogram produced normal findings in 5 of 8 patients, maximal stress test produced normal findings in 5 of 6 patients, and thallium perfusion test produced negative results in 2 of 3 patients. There were 4 patients with ABO in the main left CA, 3 with ABO in the right CA, and 1 with ABO in the circumflex CA branch. The screening sign was readily visible in 7 of the 8 patients (88%), and all 7 of these patients had ABO in a main CA. Only in the ABO in the circumflex CA branch was the screening sign not detected. The 1743 control patients (median age: 14 years) showed normal anterior aortic wall, which was void of any CA segment. In 5 control patients (0.3%, P.001) the normal right CA was visible on the long-axis view, but was not confused for a false-positive screening sign.We concluded that the proposed screening sign for ABO CA is reliable and easily recognizable, and should prompt a comprehensive assessment of the CA.

The optimal management strategy of the neonate and young infant with native aortic coarctation (AC) is controversial. We reviewed our experience with balloon angioplasty (BA) in neonates and infants 3 months to test our thesis that BA provides successful palliation, defined as avoidance of surgery for 4 weeks along with control of presenting symptoms. We also compared the results of the transumbilical arterial (UA), transfemoral arterial (FA) and transfemoral venous anterograde (FVA) approaches we have used to accomplish BA. During a 6.5-year period ending June 2001, fifty-one neonates and infants 3 months presenting with heart failure, hypertension or both underwent UA (n = 16), FA (n = 26) and FVA (n = 9) balloon coarctation angioplasty. Immediate and follow-up results were evaluated. Acute reduction of peak-to-peak gradients across the coarctation (40 17 mmHg vs. 5 6 mmHg; p0.001), increase in diameter of the coarcted segment (2.2 0.5 mm vs. 5.6 0.8 mm; p0.001) and improvement in symptomatology occurred following BA. Surgical relief of aortic obstruction was required in 4 infants at 5, 21, 24 and 28 days after the procedure. Effective palliation was thus achieved in the remaining 47 infants (92%). During intermediate-term follow-up, twenty-two infants (50%) developed recoarctation requiring repeat balloon (n = 14) or surgical (n = 8) intervention 2 10 months (median, 3 months) after initial BA. The indication for reintervention was hypertension in all patients. At a median follow-up of 3 years (range, 0.5 5.5 years), blood pressures remained low (98 11 mmHg) with an arm/leg blood pressure gradient of 4 6 mmHg. Comparison of the groups revealed similar effectiveness both immediately and at follow-up. However, femoral artery complications were seen in only the FA group. Based on these data, we conclude that effective palliation is achieved with BA in all 3 groups, femoral artery complications are seen only in the FA group and BA is an excellent alternative to surgical intervention in the management of native AC in neonates and young infants.

T most frequently used stents in the pediatric population to date are Palmaz stents. Although Palmaz stents are useful, several disadvantages, namely, the need for a large delivery sheath, balloon rupture, and stent displacement, exist. In addition, longitudinal rigidity of the stent makes it difficult to traverse tortuous course. To circumvent some of these problems, we used bridge stents. These are balloonexpandable, flexible biliary/peripheral stents manufactured by Medtronic AVE (Santa Rosa, California). The purpose of this presentation is to describe our experience with off-label use of these stents in an attempt to evaluate the feasibility, safety and effectiveness in the management of vascular obstructive lesions in children. • • • All patients who had bridge stents implanted for treatment of vascular obstructive lesions in children during a 9-month period ending July 2000 are included. There were 8 children with branch pulmonary artery stenosis (BPS), 2 with postoperative aortic recoarctation, and 1 with postsurgical superior vena caval (SVC) stenosis. The stent is made up of stainless steel (2 mm in length) sinusoidal elements connected together by laser fusion. The sinusoidal elements are designed to form elliptorectangular struts, and this geometry provides strength and resists failure under pressure. The dual-helical, laser-fusion pattern of the elements provides for longitudinal flexibility. During mounting of the stent on the balloon, an elegant stent retention mechanism is used by “pillows” created by a combination of heat and pressure so that the balloon material fills in the space between the struts of the stents along its entire length. The stents are manufactured in sizes 6 to 10 mm in diameter in 1-mm increments and with lengths of 28, 40, and 60 mm. There is minimal foreshortening at the time of stent expansion/deployment. After clinical, 2-dimensional and Doppler echocardiographic and/or quantitative pulmonary perfusion scan (for BPS cases), data indicated significant obstructive lesions, and cardiac catheterization was undertaken to confirm the diagnosis and to consider stent placement. Informed consent was obtained from parents for off-label use of the bridge stents. Conscious sedation was obtained with intramuscular injection of a sedative mixture (meperidine hydrochloride, promethazine hydrochloride, chlorpromazine) and intermittent intravenous doses of medazolam and fentanyl. Initially, peak pressure gradients across the stenotic site and selective biplane cineangiography to demonstrate the stenotic lesion were obtained. An arterial line was placed to monitor pressures and blood gas values during the procedure. Heparin 100 U/kg was administered intravenously. Activated clotting times were monitored and maintained between 200 and 250 seconds by administration of additional doses of heparin, as needed. Access was obtained percutaneously via the femoral vein (n 5 7), internal jugular vein (n 5 2), or femoral artery (n 5 2). With the aid of a multi A-2 catheter (Cordis, Miami, Florida) and a floppy-tipped Benston guidewire (Cook, Bloomington, Indiana), the stenotic lesion was crossed. The Benston guidewire was replaced with an 0.035-inch, extra-stiff, exchange-length Amplatz guidewire (Cook). An 8Fr long Blue Cook sheath (Cook) with a radiopaque marker at the tip was positioned distal to the site of obstruction in 7 patients. In the remaining patients, a short sheath (8Fr in 3 and 7Fr in 1) was used. The selected stent, premounted on a balloon catheter, was advanced over the guidewire but within the sheath and positioned across the site of obstruction. The tip of the sheath was withdrawn proximal to the site of obstruction and the balloon inflated, thus implanting the stent. One or more balloon inflations were performed to ensure apposition of the stent against vessel walls. Pressure pullback recordings across the stent and angiography, usually via a multitrack catheter (Braun, Bethlehem, Pennsylvania) were obtained. Three doses of cefazolin, 25 mg/kg, were administered at 6to 8-hour intervals. The heparin effect was not reversed. On the morning after, aspirin 5 to 10 mg/kg/day as a single daily dose was administered and continued for a 6-week period. Repeat pulmonary perfusion scan (in patients with BPS), chest roentgenogram, and Doppler studies were obtained on the morning after stent placement. Follow-up clinical, chest x-ray, and echo-Doppler evaluations were performed 1, 6, and 12 months after the procedure. Eight patients with BPS were aged 0.4 to 13 years (median 10) with weights ranging from 6.1 to 48.2 kg (median 25). The primary diagnoses were complex congenital heart disease with pulmonary atresia or severe stenosis in 7 patients. Six of these patients had total surgical correction, but had significant BPS. The seventh patient had a prior bidirectional Glenn procedure. The final patient had repair of a diaphragmatic From the Division of Pediatric Cardiology, Saint Louis University School of Medicine/Cardinal Glennon Children’s Hospital, St. Louis, Missouri. Dr. Rao’s address is: Division of Pediatric Cardiology, Saint Louis University School of Medicine, 1465 South Grand Boulevard, St. Louis, Missouri 63104-1095. E-mail: raops@slu.edu. Manuscript received March 1, 2001; revised manuscript received and accepted April 30, 2001.

We reviewed the clinical spectrum and possible prognostic factors in 14 children with restrictive cardiomyopathy. The patients were not homogeneous in clinical presentation or morphology. The mortality rate was high: 21.4% at 1 year and 50% at 2 years after presentation. Younger patients with respiratory symptoms, thromboembolism, increased cardiothoracic ratio on chest radiogram or patients with endocardial fibroelastosis appear to have a worse prognosis and orthotopic cardiac transplantation may be indicated.

Transthoracic Doppler color flow and spectral velocity patterns of normal coronary arteries in children have not been well studied. We designed this study to evaluate coronary artery flow velocity characteristics in normal and hypertrophied hearts. Sixty-eight children with optimal two-dimensional echocardiographic images of the left coronary artery (LCA) and right coronary artery (RCA) were prospectively studied. The heart was normal in 45 children, and 23 had left and/or right ventricular hypertrophy assessed by echocardiography (mean age 5.8 versus 5.2 years, p = NS). Color flow signals were detected in the LCA in 63(92%) of the 68 children studied, and pulsed Doppler spectral waveforms were recorded in 47 (69%). The latter were recorded in 26 (58%) of 45 normal children and in 21 (91%) of 23 children with left ventricular hypertrophy. Diastolic RCA flow signals were detected mostly in those with right ventricular hypertrophy (10 of 10). Higher levels of LCA maximum diastolic velocity (42 ± 23 versus 24 ± 6 cm/sec, p = 0.0004), increased diastolic flow (16 ± 15 versus 6 ± 4 ml/min, p = 0.01), and delayed time to peak diastolic velocity expressed as a percentage of diastolic spectral duration (38% ± 14% versus 20% ± 8%, p = 0.0001) were observed in children with left ventricular hypertrophy than in those in normal children. A strong correlation was present between Doppler-derived LCA flow and left ventricular mass/m 2 ( r = 0.7, p = 0.001). In normal hearts, LCA spectral velocity pattern did not change with increasing age, but the time velocity integral became progressively larger, resulting in a strong correlation with weight ( p r = 0.78). This study demonstrates (1) LCA flow signals can be detected and quantitated in the majority of children with and those without left ventricular hypertrophy. (2) Left ventricular hypertrophy is associated with increased LCA flow, higher diastolic velocity, and delayed peak diastolic velocity. (3) RCA flow signals are mostly detected when there is right ventricular hypertrophy. Studies on larger groups of patients are needed to further confirm our observations and to enhance understanding of coronary artery flow reserve. (J Am Soc Echocardiogr 1998;11:409-20.)

Mammalian cardiac myocytes express multiple gap junction channel proteins or connexins. Expression patterns of the avian homologues of the mammalian cardiac connexins change during cardiac morphogenesis in association with changes in the electrophysiologic properties of intercellular junctions in chick cardiac myocytes. To determine whether expression of cardiac connexins is developmentally regulated in humans, we characterized connexin mRNA and protein content and distribution in hearts of 11 human fetuses (74 to 122 d gestational age), seven children (0.5 mo to 3 y of age), and two adults. Northern blot analysis identified transcripts of connexin40 (Cx40), connexin43 (Cx43), and connexin45 (Cx45) genes in all hearts analyzed. Cx40 mRNA was approximately 5-fold more abundant in samples from fetal hearts than in hearts of children or adults. However, fetal samples used for RNA extraction included atrial as well as ventricular myocardium, whereas samples from children and adults were exclusively ventricular. Northern analysis of adult human right atrial appendages revealed abundant Cx40 mRNA, thus suggesting that the greater amount of Cx40 signal seen on Northern blots from fetal hearts could have been attributable to atrial contributions. Neither Cx43 nor Cx45 mRNA varied significantly in amount in samples from the different developmental stages analyzed. Immunofluorescence identified abundant Cx43 in the known distribution of gap junctions in myocytes in sections of all hearts. Cx45 staining was inconspicuous in fetal hearts but was readily apparent in cardiac myocytes in hearts of older subjects. In contrast, Cx40 staining in the ventricle was confined to mural coronary arteries, apparently in endothelial cells, whereas in the atrium Cx40 staining at myocyte junctions was abundant. Junctions in hypertrophied myocardium of children with congenital or acquired heart disease appeared more prominent and complex than in normal tissues. Thus, the human heart contains multiple connexins, but their distribution and developmental patterns differ from each other and from those in other species. Cx45 expression is not restricted to the fetal human heart. Cx40 expression in ventricles occurs selectively in coronary arteries.

Echocardiography is useful and reliable in the diagnosis and management of children with dilated cardiomyopathy. M-mode echocardiography provides quantitative information of left ventricular and left atrial dimensions and left ventricular wall thickness. Left ventricular function including shortening fraction, mean velocity of circumferential fiber shortening (Vd), systolic time intervals, left ventricular wall thickening and thinning rate, isovolumic contraction time, and wall stress can be derived from M-mode study. Left ventricular and left atrial dimensions are usually 1.5 times normal. Left ventricular systolic function is markedly reduced. Shortening fraction can be easily obtained and is the most informative index for assessing the severity of illness. Very low shortening fraction at presentation and follow-up (12–15%) is a poor prognostic sign. Two-dimensional echocardiography is valuable for excluding valvular lesion or coronary artery anomaly and detection of intracardiac thrombus. The left ventricular free wall is usually more severely affected than the ventricular septum as seen by two-dimensional echocardiography. (ECHOCARDIOGRAPHY, Volume 8, March 1991)

All 3 daughters of a mother with glaucoma had a conotruncal abnormality of the heart and glaucoma. The presence of heart and eye anomaly may be coincidental; however, both may be related to abnormal development of neural crest. The pedigree suggests autosomal dominant inheritance in this family.

cardiac transplantation. However, data regarding kidney growth after heart transplant in children is lacking. We evaluated the renal growth in infant ( 1 year of age) heart transplant recipients followed at the University of Minnesota. Annual renal ultrasounds were obtained at follow-up. Z scores of kidney size for age and height were calculated based on standard growth curves. There were 19 infant transplant recipients from 1986 to 2000, of whom 15 survived past 1 year of age (12 hypoplastic left heart syndrome, 2 dilated cardiomyopathy, 1 critical aortic stenosis). Median age at transplant was 0.19 0.14 years. Median follow-up was 4.5 (range: 1.4-15.3) years. At follow-up, 2041% of patients had renal size smaller than 2 standard deviations (SD) from the mean predicted for age, however, kidney dimensions were within 2 SD of those predicted for height (table). Treatment with cyclosporine versus FK506 correlated with smaller renal size adjusted for both height (p 0.05; z score: -1 0.6 vs 0.5 0.6) and age (p 0.01; z score ; -1.8 /-0.7 vs -1.2 /-0.7). GFR, creatinine levels, hypertension, history of rejection and treatment with prednisone did not correlate with kidney size. In conclusion, infant heart transplant recipients demonstrate renal size for height within 2 SD of normal, although they tend to have smaller kidneys for age. Treatment with cyclosporin is associated with smaller renal size compared to FK-506. Longer follow-up will determine if renal size is a predictor for late renal failure in children after heart transplantation in infants.

We report sporadic occurrence of deletion of the long arm of chromosome 11 (q23 leads to qter) in a male newborn infant with intrauterine growth retardation, craniofacial, cardiac, and orthopedic abnormalities and neonatal death but without genital abnormalities. This deletion is seen predominantly in females; here we emphasize the importance of an XX sex chromosome constitution as a factor determining phenotypic expression of and survival in the del(11q) syndrome. We also provide a description of the cardiovascular system from postmortem examination. The cardiac findings are similar to those of two previously autopsied cases and will assist in early clinical diagnosis of the 11q-syndrome.

Our current approach to the management of neonates with pulmonary atresia and intact ventricular septum is to perform a transarterial pulmonary valvotomy through a left anterolateral thoracotomy followed by a polytetrafluoroethylene shunt between the left subclavian artery and the pulmonary trunk at the site of the pulmonary arteriotomy. From October, 1983, to December, 1985, 7 consecutive neonates with pulmonary atresia and intact ventricular septum were managed in this fashion. Mean age was 5.1 days (5 patients, less than 48 hours old), and mean weight was 3.3 kg (range, 2.5–4.3 kg). Right ventricular morphology was type I (tripartite) in 4 patients, type II (absent trabecular portion) in 2, and type III (absent trabecular and infundibular portions) in 1. The mean right ventricular to left ventricular peak systolic pressure ratio was 1.5. One patient who initially had valvotomy alone required a left subclavian-pulmonary trunk shunt the next day for hypoxemia. All other patients had a valvotomy and shunt during the same procedure. There were no operative or hospital deaths. Follow-up of 3.5 to 34 months (mean, 17.5 months) confirmed shunt patency in all patients. Three of 4 patients undergoing postoperative catheterization have shown good right ventricular growth; 2 have undergone successful repair at 10 and 23 months. There have been 3 late deaths at 3.5, 4, and 8 months. Two other patients are doing well and are awaiting postoperative catheterization. This procedure permits synchronous valvotomy and shunting without the need for cardiopulmonary bypass in these critically ill neonates. The use of the pulmonary trunk for shunt placement facilitates shunt takedown at a subsequent operation while still using the subclavian artery as a regulator of pulmonary blood flow. The high late mortality underscores the severity of this disease and the need for early and aggressive reinvestigation.

From 1972 to 1987, seven patients, from two to 28 months of age, underwent left subclavian artery-left coronary artery anastomosis for anomalous origin of the left coronary artery from the pulmonary trunk. All of these infants, median age 4 months, had severe congestive heart failure caused by anterolateral myocardial infarctions. There were two hospital deaths (29% mortality rate) with no late deaths after an average 10-year follow-up. All survivors have good exercise tolerance New York Heart Association class I), reduction in heart size, and significant improvement or normalization of ventricular function by echocardiography. Patency of the subclavian-left coronary artery anastomosis has been documented in two of four patients who have undergone catheterization. In contrast to other revascularizing procedures for treatment of an anomalous origin of the left coronary artery, anastomosis of the left subclavian to the left coronary artery may be performed without cardiopulmonary bypass or aortic occlusion. Moreover, this procedure appears to have an acceptable mortality rate with excellent long-term functional results in critically ill infants.

Eighty-nine children with rheumatic fever between 1964 and 1978 were reviewed. There were 40 males and 49 females. The first attack occurred mostly between 6 and 12 years. Arthritis was present in 62.9%; carditis, 55.1%; chorea, 19.1%. Children were followed from 20 months to 15 years (mean 61 months). Seventeen developed recurrent attacks (19.1%). On final examination, 40 had no heart disease, 30 had mild heart disease, 6 required valve surgery, 4 had died, and 9 had moderate heart disease but not operated. Chorea was present in 20 children. Six of them also had mitral insufficiency, 3 had recurrence after episode of chorea. Prompt diagnosis and treatment of streptococcal infection and penicillin prophylaxis need to be stressed. Severe carditis on initial attack and recurrence predispose to the development of severe heart disease.

From 1962 to mid-1984, 63 infants underwent coarctation repair. Cardiac defects were present in 46 (73%). Repair was by subclavian aortoplasty in 35 patients, resection and end-to-end anastomosis in 19, and other techniques in 6. Three patients died before the repair was completed. In 15 patients, an intraluminal shunt was used during subclavian aortoplasty. Prostaglandin E1 (PGE1) was infused in 9 patients. Early (thirty-day) mortality was 16% (10 patients): 4 patients who underwent end-to-end anastomosis; 3 during attempted end-to-end anastomosis; 2 who received bypass grafts; and 1 who had subclavian aortoplasty without a shunt. None of the 15 patients who had subclavian aortoplasty with a shunt died. There were no early deaths among the last 25 patients seen. One patient who underwent subclavian aortoplasty without a shunt is paraplegic. There were 10 late deaths among the 53 patients followed from 1 month to 12 years (mean, 3 years). Arm-leg pressure gradients of 20 mm Hg or greater were found in 4 of the patients who had end-to-end anastomosis but not in any of the patients who had subclavian aortoplasty. Improved results of coarctation repair in infants in this study were attributed to PGE1, subclavian aortoplasty, and use of an intraluminal shunt.

An unbalanced karyotype most likely consisting of a partial duplication of the short arm of chromosome 2 (p13 leads to pter) was found in a newborn infant with intrauterine growth retardation, facial, skeletal, and cardiac abnormalities. There was no evidence of a translocation in either parent. At autopsy, striking histopathologic abnormalities were detected in the central nervous system and ovaries.

Six instances of aortic aneurysm in children have been observed in the past 15 years. Four children with aortic stenosis and coarctation of the aorta had aneurysmal dilatation of the, ascending aorta, and two children with coarctation of the aorta had ruptured post-stenotic dilatation of the descending aorta. Our observations suggest that aortic aneurysm can be the result of hemodynamic stress, although developmental anomaly of the aorta associated with aortic stenosis or coarctation could be responsible for the development of the aneurysm.

Primary endocardial fibroelastosis of the left ventricle was studied in 119 families. Themale to female sex ratio was 0.63. The mean maternal age of 27.2 years (S.D. 5.6 years) and the mean paternal age of 31.1 years (S.D. 6.2 years) were normal. The mean birth rank was significantly higher for patients than for sibs. Nine families had multiple affected children, including 7 with 2 affected sibs and 2 with 3 affected sibs. The family data did not fit either the recessive or the multifactorial mode of inheritance. The sib incidence in the families of affected girls was 4.3 per cent and in the family of affected boys 2.9 per cent. After the birth of the first affected child the sibling incidence was 17.7 per cent (11/62), and after the second affected child, 33.3 per cent (2/6). The empiric risk figures for sib incidence found in this study may be useful in genetic counseling.

ObjectivesWe studied the outcomes of pediatric patients diagnosed with dilated cardiomyopathy (DCM) and their relation to epidemiologic and echocardiographic variables at the time of presentation.BackgroundThe outcome of pediatric DCM patients ranges from recovery to a 50% to 60% chance of death within five years of diagnosis. The impact of heart transplantation and other emerging therapies on the outcomes of pediatric DCM patients is uncertain.MethodsWe performed a retrospective study of the outcomes in 91 pediatric patients diagnosed with DCM from 1990 to 1999. Routine therapy included use of digoxin, diuretics, angiotensin-converting enzyme inhibitors, and heart transplantation.ResultsAt the time of last follow-up, 11 patients (12%) had died without transplantation; 20 (22%) underwent transplantation; 27 (30%) had persistent cardiomyopathy; and 33 (36%) had recovery of left ventricular systolic function. Overall actuarial one-year survival was 90%, and five-year survival was 83%. However, actuarial freedom from “heart death” (death or transplantation) was only 70% at one year and 58% at five years. Multivariate analysis found age 12 years (hazard ratio 4.5), and female gender (hazard ratio 3.0) to be significantly associated with a greater risk of death or transplantation and a higher left ventricular shortening fraction at presentation (hazard ratio 0.92), with a slightly decreased risk of death or transplantation.ConclusionsPediatric DCM patients continue to have multiple outcomes, with recovery of left ventricular systolic function occurring most frequently. Utilization of heart transplantation has led to improved survival after the diagnosis of pediatric DCM.

A case of acute nonlymphocytic leukemia presenting as pericarditis is reported in a five-year-old boy. Initially, a clinical diagnosis of viral pericarditis was made, because the child did not demonstrate hematologic or clinical manifestations of leukemia. Acute undifferentiated or lymphocytic leukemia. Acute undifferentiated or lymphocytic leukemia was diagnosed one week after admission when his peripheral blood count became abnormal. The patient did not respond to vincristine and prednisone. When cytochemical evaluation indicated acute myelomonocytic leukemia, employment of cytosine arabinoside and 6-thioguanine was instituted and the child began to improve. Currently, he is still in good remission and has no evidence of recurrence of pericarditis, 1 1/2 years after his initial presentation. In reviewing the literature, we found 17 patients who had leukemic pericardial effusion with cardiac tamponade. There are three reported cases of young children with pericardial effusion as the initial manifestation of acute lymphocytic leukemia, but no reported cases due to nonlymphocytic leukemia, as in this child.

• A 16-year-old boy with acute perimyocarditis had serological evidence of Mycoplasma pneumoniae infection. The endomyocardial biopsy specimen showed grade 2 active lymphocytic myocarditis. A T-cell study suggested a cell-mediated immune process in the pathogenesis of carditis. Mycoplasma pneumoniae needs to be considered as a possible cause of acute carditis, and histological findings may influence management. (AJDC1986;140:471-472)

The cardiac rhythm before and after the modified Fontan procedure was reviewed in 24 patients. Transient atrial dysrhythmias were common in the immediate postoperative period. Late postoperative premature atrial contractions were detected by ambulatory monitoring in 20 of 23 patients; eight (34.8%) had supraventricular tachycardia. Late ventricular dysrhythmia was detected in 18 of 23 patients: ten had low-grade ventricular dysrhythmias and eight (34.8%) had multiform premature ventricular contractions. Five of the latter had couplets and one of these five plus another had ventricular tachycardia. Seven patients with supraventricular tachycardia and five patients with ventricular dysrhythmia required antiarrhythmic medication. Asymptomatic bradycardia was detected in five patients (21.7%). One patient had intermittent second-degree atrioventricular block. No specific risk factors predicted dysrhythmias. Thus, cardiac dysrhythmias were common in patients after the modified Fontan procedure, but were well tolerated in most patients. No sudden deaths or syncopal episodes have occurred during a mean follow-up of 5 years. One patient's death was related to severe left ventricular dysfunction. Permanent pacing has not been required in any patient.

An adolescent female with occult cystic medial necrosis died following spon taneous aortic rupture. A large saccular aortic aneurysm that had ruptured into the pericardial space was demonstrated by two-dimensional echocardiography and confirmed at surgery. Echocardiographic screening of the patient's family members revealed a 13-year-old brother with unsuspected aortic root dilatation. He is now being followed for possible progression of his disease. This case demonstrates the role of echocardiography in cystic medial necrosis. It can aid the acute management of patients with aortic dissection or aneurysm. It can also define patients with occult disease who require serial follow-up and genetic counseling.

The electrocardiograms of 60 patients with atrial septal defect, aged 23 months to 37 years, were obtained after open heart surgery and analyzed. The over-all incidence of conduction abnormalities was 60 per cent; excluding first degree A-V block, it was 52 per cent. There was no significant difference in incidence between cases of secundum and primum atrial septal defect, or between those with patch repair and suture repair. Arrhythmia after total body perfusion lasting over one hour was not significantly higher than that following shorter perfusion times. The incidence of the various conduction disturbances was: A-V block, 28 per cent; right bundle branch block, 30 per cent; A-V junctional rhythm, 20 per cent; supraventricular tachycardia, 5 per cent; and atrial flutter, 2 per cent. As a rule, the arrhythmias were benign. Excluding right bundle branch block, they also tended to be transient. However, postoperative complete A-V block has persisted in 1 child for over a year. The P-R interval in the immediate postoperative period increased, decreased, or remained essentially unchanged; that observed several weeks later did not differ significantly from the preoperative level. Surgically induced right bundle branch block resulted in a distinct increase of the RS ratio in V 1 . This regressed after disappearance of block. The possible mechanisms for the postoperative A-V block and right bundle branch block are discussed.

Persistance of sinus rhythm is common after Fontan type operation (op) and the reported arrhythmias are infrequent. We reviewed 18 patients (pt) who survived Fontan op with regard to the occurrence of rhythm disturbances detected by ECG, Holter monitoring and stress ECG. All underwent op between 1975 and 1984 at age 3-18 years (median 11 years). Anatomical lesions were tricuspid atresia 11, univentricular heart 4, pulmonary atresia 2, transposition and pulmonary stenosis 1. Duration of follow-up was 6 months-9 years (mean 3.2 years) and all had serial ECGs. Preop rhythm disturbances were present in 8 pt (2 had short P-R intervals, 3 had ectopic atrial pacemaker or junctional rhythm and 3 had 1° A-V block). Post-op transient atrial dysrhythmias were seen in 9. Late post-op 1° A-V block developed in 1, sinus bradycardia in 2, PVCs in 3. 24 hour Holter monitor recordings were done in 12: 8 had rare PACs,, wandering pacemaker or junctional beats, 1 had short runs of supraventricular tachycardia. 8 had PVS: 6 uniform, 2 multiform. Bradycardia with junctional escape were seen in 4. Stress tests were done in 10 pt; 2 had ventricular tachycardia, and 1 also had couplets. Conclusion: Transient atrial dysrhythmias were common in immediate post-op period but prolonged atrial tachycardia was not seen. Significant ventricular dysrhythmias occurred but were rare. Sinus bradycardia developed in some. Stress test and 24 hour Holter monitoring were helpful in evaluating and detecting rhythm disturbances in post-op Fontan patients.

Morphometric studies of the lungs were performed at autopsy in 17 infants with pulmonary hypoplasia (PH). The pulmonary arteries were injected with a Barium gelatin suspension and the tracheo-bronchial tree was perfused with formaldehyde. 14 infants had other anomalies in addition to PH. Radial alveolar counts were reduced in all patients. Arterial changes varied from mild to moderate and included peripheral extension of muscles and normal or increased wall thickness. (Table) Alveolar-arterial ratios were within normal limits. Pulmonary arterial development is abnormal in PH. Clinical outcome may be dependent on the severity of arterial changes.

• A teenager with Marfan's syndrome required resuscitation and was found to have multiform premature ventricular contractions and ventricular tachycardia. Of 24 children with Marfan's syndrome, eight (33.3%) were found to have ventricular dysrhythmias, including three with ventricular tachycardia. Six of these eight patients had mitral valve prolapse, and five had prolonged QT or QTU intervals corrected for heart rate. However, only two patients had severe mitral regurgitation, five had only mild heart disease, and one had no detectable heart lesion. The role of mitral valve prolapse and/or delayed repolarization in the development of ventricular dysrhythmia was explored. Delayed repolarization, especially when combined with mitral valve prolapse, is associated with occurrence of ventricular dysrhythmia. Serious ventricular dysrhythmia can occur in children with Marfan's syndrome with or without substantial valve disease, and the dysrhythmia appears to progress with age. ( AJDC 1985;139:273-276)

Trisomy 13 occurs with an incidence of 1/8000 live births. Thirty-one patients with Trisomy 13 diagnosed over the past 19 years at our institutions were reviewed. Parameters evaluated were age of parents, sex, occupation, prenatal history, parity, family history, geographic area, clinical features, and birth month. 23/31 (74%) were male; three periods of the year with higher incidence (28/31) were found (March-April, July-August, and November-December); mean age of mother was 29.6 years (median 28 years). Trisomy 13 in our patients was associated with increased parity. Family history revealed 2 patients who had relatives with Trisomy 21; 2 patients had relatives with polydactyly; 2 patients had relatives with cleft lip/palate. These data refute previous data which indicate a sex ratio in Trisomy 13 of 1:1 and 2 maternal age peaks. In addition, the data support a higher incidence in males, 3 peak months of occurrence, an increased risk with increased parity. The occurrence in the family of cleft lip/palate and polydactyly, which are characteristic features of Trisomy 13 syndrome, as well as other trisomies suggests that there may be other genetic influences affecting non-disjunction in families.