Corrigendum to "Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features".

[This corrects the article DOI: 10.1155/2019/5384295.].

Short-term results in infants with multiple left heart obstructive lesions.

OBJECTIVE: Deciding on a surgical pathway for neonates with ≥2 left heart obstructive lesions is complex. Predictors of the successful biventricular (2V) repair in these patients are poorly defined. The goal of our study was to identify patients who underwent the 2V repair and assess anatomic and echocardiographic predictors of success. DESIGN: Infants born between July 2015 and August 2017 with ≥2 left heart obstructive lesions with no prior interventions were identified (n = 19). Patients with aortic or mitral valve (MV) atresia and critical aortic stenosis were excluded. Initial echocardiograms were reviewed for aortic, MV, tricuspid valve annulus size, and left (LV) and right (RV) ventricle diastolic longitudinal dimensions. The valve morphology and presence of a ventricular septal defect (VSD) and coarctation were assessed. Clinical outcomes included successful 2V repair, complications, and repeat interventions or surgeries. Failed 2V repair was defined as a takedown to single ventricle (1V) physiology, cardiac transplantation, or death. RESULTS: For 2V repair, 14/19 patients were selected and for 1V, 5/19 patients were selected. Initial surgical procedures of the 2V group were simple coarctation repair (5), complex coarctation/arch reconstruction +/- septal defect closure (6), hybrid stage 1 (2), and none (1). Three of the 2V patients required reintervention in the first 90 days. The LV to RV diastolic longitudinal ratio >0.75 and mitral/tricuspid ratio of <0.8 were observed in 13/14 of the 2V patients. The LV:RV ratio and the aortic valve z score were significantly larger in the 2V group compared to the 1V group. All patients in the 1V group had a nonapex forming LV. There was no mortality with follow-up to three years of age. CONCLUSIONS: This study showed excellent short-term and midterm surgical results in the 2V population. The LV:RV diastolic longitudinal ratio may be a useful tool in the risk stratification of a successful 2V repair even in cases with a small MV.

Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features.

Distal deletions and duplications of 3p are individually well-characterized chromosome abnormalities. Here, we report an inverted duplication of 3p with an adjacent terminal 3p deletion in a 17-month-old girl who had prenatal intrauterine growth restriction and cardiac defects. Other findings included hemangiomas, neutropenia, umbilical hernia, hypotonia, gross motor delay, microcephaly, and ptosis. Family history was noncontributory. Microarray analysis revealed a 5.37 Mb deletion of chromosome bands 3p26.1 to 3p26.3 and a 13.68 Mb duplication of 3p24.3 to 3p26.1. FISH analysis confirmed that the duplication was inverted. Upon literature review, only one postnatal patient and one second trimester pregnancy have been reported with this finding. Many of our patient's features are present in both 3p deletion and 3p duplication syndromes, including congenital heart disease, growth restriction, microcephaly, hypotonia, and developmental delay. Our patient has additional features not commonly reported in 3p deletion or duplication patients, such as aortic dilation, hemangiomas, and neutropenia. The identification of this patient contributes to additional understanding of features associated with concurrent deletion and inverted duplication in the distal 3p chromosome. This report may assist clinicians working with patients who have constellations of similar features or similar cytogenomic abnormalities.

Tetralogy of Fallot with absent pulmonary valve-When the ductus is present: A case of isolated branch pulmonary artery and review of literature.

Tetralogy of Fallot/Absent Pulmonary Valve (TOF/APV) has been classically associated with the absence of a patent ductus arteriosus (PDA). We present a rare case of APV in TOF with a discontinuous left pulmonary artery (LPA) that was suspected during fetal echocardiogram. Postnatal echocardiogram confirmed the origin of a hypoplastic LPA from the PDA. Despite an aneurysmal (right pulmonary artery) (RPA), axial imaging demonstrated widely patent tracheobronchial system with no evidence of bronchial compression. Clinically, the child required only minimal respiratory support. Genetic testing was positive for 22 q11deletion, commonly associated with this lesion. Surgery consisted of unifocalization of the discontinuous LPA with placement of a valved pulmonary homograft during complete repair of this lesion. Our case highlights the importance of prenatal detection, to aid in the prompt initiation of prostaglandins so as to ensure early rehabilitation of the left lung. Inability to visualize one of the branch pulmonary arteries (PA's) and a PDA on fetal echocardiogram in TOF/APV must raise suspicion for an eccentric branch PA with ductal origin.

Obesity trends in children, adolescents, and young adults with congenital heart disease.

OBJECTIVES: To determine the prevalence, age of onset, and risk factors for overweight and obesity in children with congenital heart disease (CHD). STUDY DESIGN: Children with CHD who were seen at our institution from 1996 to 2017 were studied. Patients were full-time residents of the United States and were receiving all cardiac care at our institution. Patients were categorized by age and CHD diagnosis. The date of last normal weight for age and the date of first recorded weight in the range of overweight and obese were documented. RESULTS: Nine hundred sixty-eight patients with CHD were included. The prevalence of overweight and obesity was 31.5% and 16.4%, respectively. For patients who became overweight or obese, the last recorded normal weight was between 6 and 10 years of age. Electrophysiologic disease and older age were risk factors for obesity. CONCLUSIONS: Children with CHD have an increasing risk of becoming overweight and obese in early childhood. This study provides important information and identifies critical period to implement preventative measures and counsel families about the risk of obesity in CHD.

Rare case of septum primum malposition defect in dextrocardia and situs inversus totalis without heterotaxy syndrome.

Septum primum malposition defect is an extremely rare CHD and is often found in patients with visceral heterotaxy, particularly of the polysplenia type. We describe a unique patient with dextrocardia, situs inversus totalis, and bilateral superior vena caval veins without heterotaxy syndrome who was diagnosed with an interatrial defect and partial anomalous pulmonary venous drainage due to malposition of the septum primum.

Comparison of two-dimensional strain analysis using vendor-independent and vendor-specific software in adult and pediatric patients.

INTRODUCTION: Two-dimensional strain analysis is a powerful analysis modality, however, clinical utilization has been limited by variability between different analysis systems and operators. We compared strain in adults and children using vendor-specific and vendor-independent software to evaluate variability. METHODS: One hundred and ten subjects (50/110 pediatric, 80/110 normal left ventricular function) had echocardiograms with a General Electric ultrasound scanner between September 2010 and January 2012. Left ventricular longitudinal strain was derived with EchoPAC (General Electric, v10.8.1), a vendor-specific software, and Velocity Vector Imaging (Siemens, v3.5), which is vendor-independent. Three independent readers analyzed all the echocardiograms yielding 330 datasets. RESULTS: Mean left ventricular global longitudinal Lagrangian strain was -18.1 ± SD 4.4% for EchoPAC and -15.3 ± SD 4.1% for Velocity Vector Imaging. Velocity Vector Imaging yielded lower absolute global longitudinal Lagrangian strain by mean 2.9 (±SD 2.7, p < 0.0001), and lower regional longitudinal strain. These differences persisted in normal subjects versus those with cardiomyopathy. Longitudinal strain differences were slightly higher in the pediatric cohort. There was no significant difference in inter-observer longitudinal strain and a small difference in intra-observer strain between analysis systems. On repeat measurements, a significant change in global longitudinal Lagrangian strain occurred after the difference exceeded 3-5 strain points for EchoPAC and Velocity Vector Imaging, respectively. CONCLUSION: Velocity Vector Imaging produces lower left ventricular longitudinal strain values versus EchoPAC for the same echo images. Both systems have similar inter-observer variability, Velocity Vector Imaging slightly higher intra-observer variability. A statistically significant change in global longitudinal Lagrangian strain occurs with changes >3-5 strain points on repeat measurements. Strain values between the systems are not interchangeable.

Individualized approach to the surgical treatment of tetralogy of Fallot with pulmonary atresia.

BACKGROUND: Tetralogy of Fallot with pulmonary atresia is a heterogeneous group of defects, characterised by diverse sources of flow of blood to the lungs, which often include multiple systemic-to-pulmonary collateral arteries. Controversy surrounds the optimal method to achieve a biventricular repair with the fewest operations while basing flow to the lungs on the native intrapericardial pulmonary arterial circulation whenever possible. We describe an individualized approach to this group of patients that optimizes these variables. METHODS: Over a consecutive 10-year period, we treated 66 patients presenting with tetralogy of Fallot and pulmonary atresia according to the source of the pulmonary arterial flow. Patients were grouped according to whether the flow of blood to the lungs was derived exclusively from the intrapericardial pulmonary arteries, as seen in 29 patients, exclusively from systemic-to-pulmonary collateral arteries, as in 5 patients, or from both the intrapericardial pulmonary and collateral arteries, as in the remaining 32 patients. We divided the latter group into 9 patients deemed simple, and 23 considered complex, according to whether the pulmonary arterial index was greater than or less than 90 millimetres squared per metre squared, and whether the number of collateral arteries was less than or greater than 2, respectively. RESULTS: We achieved complete biventricular repair in 58 patients (88%), with an overall mortality of 3%. Repair was accomplished in a single stage in all patients without systemic-to-pulmonary collateral arteries, but was staged, with unifocalization, in the patients lacking intrapericardial pulmonary arteries. Complete repair without unifocalization was achieved in all patients with the simple variant of the mixed morphology, and in 56% of patients with the complex variant. The average number of procedures per patient to achieve complete repair was 1, 2.2, 3.8, and 2.6 in patients with exclusively native intrapericardial, simple and mixed, complex and mixed and exclusively collateral pulmonary arterial flow, respectively. CONCLUSIONS: An individualized approach based on the morphology of the pulmonary arterial supply permits achievement of a high rate of complete intracardiac repairs, basing pulmonary arterial flow on the intrapericardial pulmonary arteries in the great majority of cases, and has a low rate of reoperation and mortality.

Systolic and diastolic properties of univentricular hearts in children: insights from physiologic indices that reflect calcium cycling.

Physiologic indices that reflect intracellular Ca2+ cycling were chosen to evaluate contraction and relaxation properties of the univentricular heart. We hypothesized that these indices would be impaired in univentricular hearts. With advances in surgical palliation, an increasing number of children are surviving with univentricular hearts supporting the systemic circulation. Similar to the adult failing heart, single ventricles may also manifest impaired Ca2+ cycling, which may have important therapeutic implications. In our study, we did not actually measure Ca2+ uptake or transients in the cardiac myocyte. Rather, we used previously validated physiologic indices that are known to reflect Ca2+ cycling. Sixteen children were studied, eight with single ventricles (SV) and eight as matched control subjects. Systolic properties were studied using maximal derivative of ventricular pressure (dP/dtmax), force-frequency relationship, and mechanical restitution. Diastolic properties were assessed using time constant of relaxation (tau) and the relaxation-frequency relationship. The critical HR (HRcrit) was assessed from the force-frequency relationship and relaxation-frequency relationship. DP/dtmax and tau were calculated from micromanometric tracings at increasing HRs, generated by right atrial pacing. In SV patients, dP/dtmax was lower than in the control group at each matched HR, and the force-frequency relationship was shifted downward. Restitution of contractility was slower in patients with SV. Tau was similar in both groups at lower HRs but significantly prolonged in the SV group at faster HRs. In the SV, HRcrit was significantly shifted to the left. These findings indicate impaired systolic and diastolic properties of univentricular heart, especially at increased HRs. Because these physiologic indices reflect Ca2+ cycling, it is speculated that the phenomenon of Ca2+ cycling may be impaired in the myocytes of univentricular hearts.