A 7-day-old male infant presented for concern of a possible left atrial mass. At 3 days of age, he had persistent tachypnoea and stridor without a murmur on exam. An echocardiogram was ordered to screen for congenital heart disease. The echocardiogram showed a small, dynamic pedunculated mass in the left …

Pacing and Clinical ElectrophysiologyVolume 35, Issue 8 p. 1014-1017 DEVICE ROUNDS Ventricular “Oversensing” in a Biventricular Pacemaker MARK A. WALSH M.D., MARK A. WALSH M.D. The Heart Institute, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OhioSearch for more papers by this authorJEFFERY B. ANDERSON M.D., JEFFERY B. ANDERSON M.D. The Heart Institute, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OhioSearch for more papers by this authorTIMOTHY K. KNILANS M.D., TIMOTHY K. KNILANS M.D. The Heart Institute, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OhioSearch for more papers by this authorCAROL M. COTTRILL M.D., CAROL M. COTTRILL M.D. University of Kentucky College of Medicine, Lexington, KentuckySearch for more papers by this authorRICHARD J. CZOSEK M.D., RICHARD J. CZOSEK M.D. The Heart Institute, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OhioSearch for more papers by this author MARK A. WALSH M.D., MARK A. WALSH M.D. The Heart Institute, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OhioSearch for more papers by this authorJEFFERY B. ANDERSON M.D., JEFFERY B. ANDERSON M.D. The Heart Institute, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OhioSearch for more papers by this authorTIMOTHY K. KNILANS M.D., TIMOTHY K. KNILANS M.D. The Heart Institute, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OhioSearch for more papers by this authorCAROL M. COTTRILL M.D., CAROL M. COTTRILL M.D. University of Kentucky College of Medicine, Lexington, KentuckySearch for more papers by this authorRICHARD J. CZOSEK M.D., RICHARD J. CZOSEK M.D. The Heart Institute, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OhioSearch for more papers by this author First published: 13 January 2012 https://doi.org/10.1111/j.1540-8159.2011.03311.x Richard J. Czosek, M.D., Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229. Fax: 513-636-7996; e-mail: [email protected] Disclosure: No conflicts of interest Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Volume35, Issue8August 2012Pages 1014-1017 RelatedInformation

Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of these syndromes: craniosynostosis (skull base abnormalities, with early fusion in different sutures), midface hypoplasia, and musculoskeletal abnormalities. Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106). The brachycephaly is caused by early fusion in the coronal, sagittal, and lambdoidal sutures (Proc R Soc Med Sect Study Dis Child 1909). Most of the affected patients have a surgical procedure between 3 to 9 months of age to open the cranial vault to make space for the brain to grow (Plast Reconstr Surg 1978;62:335). We present a patient with Carpenter syndrome who is unusual in that she is an adult who has never had surgical intervention.

Carpenter9s syndrome is a rare autosomal recessive disease that belongs to a group of craniosynostosis syndromes. As the name of the group of syndromes implies, these spatients have early fusion of the cranial sutures or abnormal growth of the cranial vault. In either of these events, the small cranial vault does not allow the brain to grow properly. These children usually have surgery between the ages of 8 and 10 months. It is very rare for children not to have surgery. The surgery not only gives improvement for cosmetic appearances but allows for the brain to grow appropriately. We will present an overview of Carpenter9s syndrome as well as other syndromes belonging to this group. We will explain the genetic component to these syndromes and present an untreated patient in her twenties who now has several residual problems.

The subtelomeric region of chromosomes has been identified as having a large number of important genes that when deleted are associated with significant impairments. Recent advances in the technology associated with genetic evaluation of subtelomeric regions of chromosomes in patients with dysmorphic features and cognitive impairment have greatly increased the diagnostic yield. Meta-analyses of multiple outcome studies have demonstrated that the increased diagnostic yield of subtelomeric DNA probes approaches 5 to 6%. Thus, the ability to provide an answer to clinicians and families has dramatically improved. This new technology also provides the basis of more precise genetic counseling for future pregnancies. We present four cases in three families of individuals who were recently diagnosed with an abnormal karyotype using subtelomere DNA probes, who in previous evaluations had been diagnosed as an unknown multiple anomaly syndrome with no etiology identified. Previous karyotypes were normal in all cases. Family 1 consists of two siblings with a small unbalanced rearrangement of chromosomes 13 and 18. Both siblings effectively had a partial trisomy of chromosome 13 and monosomy of 18. The older child had rocker-bottom feet, dysmorphic facial features, and autistic behaviors and developmental delays. The newborn sibling has rocker-bottom feet and tetralogy of Fallot. The rearrangements were not identified in routine karyotypes. Parental testing identified one parent as being a balanced carrier. Cases 3 and 4 have deletions of 1p36 and 3q29, respectively. Their cases will be presented.

a large orifice in the right ventricular infundibulum that communicated directly with the left main coronary artery. Severe hypertensive changes indicative of abnormally high perfusion pressure were noted in the distal left coronary artery branches. The clinical course suggests that the effect of relieving right ventricular outflow obstruction was a reduction of left main coronary artery blood flow, resulting in fatal intraoperative myocardial ischemia. This unusual case draws attention to the anomalous ventriculocoronary communications often present in pulmonary atresia and their potential for limiting a successful surgical repair.

Lipoblastoma is a benign adipose tumor in children that has been described in various anatomic locations, most commonly the extremities. We describe the case of a 17-month-old boy diagnosed with cardiac lipoblastoma, a previously unreported primary cardiac tumor in children. Our patient presented with symptoms of coughing, wheezing, and hoarseness and was found to have a large mediastinal mass, which narrowed the left mainstem bronchus and compressed the right atrium and superior vena cava, causing superior vena cava syndrome. Surgical exploration revealed an intrapericardial soft tissue mass arising from the area of the posterior interatrial septum. Grossly, the resected mass was lobulated, pale yellow, and fatty with focal areas of gray myxoid tissue. Microscopically, the tumor consisted of both immature and mature adipocytes, with focal vascular myxoid areas containing lipoblasts, diagnostic of lipoblastoma. Two months after surgery, the patient was in good health without evidence of recurrence.

The unusual case of an infant with aortic origin of the left pulmonary artery is presented. The patient developed a rare complication of lobar emphysema due to bronchial compression from the enlarged right pulmonary artery. Operative anastomosis of the left pulmonary artery to the pulmonary trunk was successful, with subsequent resolution of the lobar emphysema.

Heterozygous mutations in NKX2.5, a homeobox transcription factor, were reported to cause secundum atrial septal defects and result in atrioventricular (AV) conduction block during postnatal life. To further characterize the role of NKX2.5 in cardiac morphogenesis, we sought additional mutations in groups of probands with cardiac anomalies and first-degree AV block, idiopathic AV block, or tetralogy of Fallot. We identified 7 novel mutations by sequence analysis of the NKX2.5-coding region in 26 individuals. Associated phenotypes included AV block, which was the primary manifestation of cardiac disease in nearly a quarter of affected individuals, as well as atrial septal defect and ventricular septal defect. Ventricular septal defect was associated with tetralogy of Fallot or double-outlet right ventricle in 3 individuals. Ebstein's anomaly and other tricuspid valve abnormalities were also present. Mutations in human NKX2.5 cause a variety of cardiac anomalies and may account for a clinically significant portion of tetralogy of Fallot and idiopathic AV block. The coinheritance of NKX2.5 mutations with various congenital heart defects suggests that this transcription factor contributes to diverse cardiac developmental pathways.

SummaryWe report right ventricular ultrastructure in a 20-year-old patient with Noonan's Syndrome. Initial left ventricular and septal myocardial hypertrophy, observed at 2 months without obstruction, progressed to biventricular involvement over 18 years. Histopathologic evidence of cardiomyocytic disarray, with ultrastructural evidence of myofibrillar disarray, confirmed typical biopsy findings of hypertrophic cardiomyopathy on the right ventricular side of the septum.

The objective of this study was to evaluate prospectively the influence of gestational age (GA) and short-term antenatal steroids on total lymphocyte count and lymphocyte subsets in cord blood from preterm infants. Two-color flow cytometric analyses of lymphocyte subsets were performed on cord blood collected from 67 infants. These infants were grouped according to GA: group I (term, n = 19); group II (GA 33–37 weeks, n = 25); group III (GA <33 weeks, n = 23). The mean absolute lymphocyte counts (ALC) in groups I, II and III were 5.6 ± 2.5 × 103/µl, 4.3 ± 1.5 × 103/µl and 3.5 ± 1.8 × 103/µl respectively. The mean values for CD4+ lymphocytes in groups I, II and III were 2.7 ± 0.8 × 103/µl, 2.0 ± 0.8 × 103/µl and 1.6 ± 0.9 × 103/µl respectively. Mean values for CD8+ lymphocytes were 0.9 ± 0.3 × 103/µl, 0.6 ± 0.3 × 103/µl and 0.5 ± 0.3 × 103/µl respectively. With decreasing GA, there was a statistically significant decrease in ALC (p = 0.0035), CD4+ lymphocytes (p = 0.0013) and CD8+ lymphocytes (p = 0.0064). We then evaluated the effect of antenatal steroids, now routinely administered to women with preterm onset of labor to facilitate fetal lung maturation, and found that after adjusting for GA, infants of women on antenatal steroids had significantly fewer ALC (p = 0.0001), CD4+ lymphocytes (p = 0.02) and CD25+ lymphocytes (p = 0.03). In this population of infants, the decreased number of lymphocytes seen at younger GAs is associated with antenatal steroid use.

Background. When iodinated contrast material is contraindicated, carbon dioxide (CO 2 ) gas can be injected intravascularly to produce high-quality digital subtraction angiograms. Objective. CO 2 angiography, although previously described in adults, has never before been reported in children. Materials and methods. We present three children with renal transplants who required renal angiography. Because of elevated creatinine levels, iodinated contrast was not used to search for possible renal artery stenosis. Instead, CO 2 angiography was used to evaluate the renal artery anastomosis. Results. In all three cases, the renal artery anastomosis was clearly visualized using CO 2 angiography and showed no evidence of renal artery stenosis. Conclusion. Digital CO 2 angiography is an effective method for pediatric renal angiography. The technique can easily be adapted for virtually any angiographic laboratory capable of digital subtraction imaging. Digital CO 2 angiography also lacks the risks of a conventional iodinated contrast medium, namely nephrotoxicity, allergic reaction and volume overload.

‘;There go stoutness, strength, and speed … and great hearts to face their fate …’ from The Remount Train by W.H. Ogilvie

We report a case of a healthy, asymptomatic 12-year-old girl in whom anomalous pulmonary venous connection to the left atrium occurred as an isolated congenital anomaly. This condition, termed "meandering" pulmonary veins, is closely related to scimitar syndrome and is usually associated with hypogenesis of the right lung and dextropositioning of the heart. To our knowledge, ours is only the second reported case of meandering pulmonary veins occurring as an isolated anomaly.