Truncus Arteriosus and Absent Ascending Aorta With Unusual Head and Neck Vessel Origins.

We describe a neonate with a unique variant of truncus arteriosus with interrupted aortic arch, an absent ascending aorta, persistent right dorsal aorta, and an unusual brachiocephalic artery pattern in which all head and neck vessels were supplied from the ductal arch-descending aorta continuum. (Level of Difficulty: Beginner.).

Correlation of transthoracic echocardiography-derived pulmonary to systemic flow ratio with hemodynamically estimated left to right shunt in atrial septal defects.

Background: Transthoracic echocardiographic (TTE) estimation of the pulmonary to systemic flow ratio (Qp/Qs) is routinely used in clinical practice and is included in the American Society of Echocardiography Guidelines. We sought to assess its real-world applicability with a particular focus on hemodynamically significant shunt lesions. Methods: Retrospective single institutional review of TTE's in patients with secundum atrial septal defect prior to cardiac catheterization (cath) from 2012 to 2018 was performed (n = 109), those with technically limited images for Qp/Qs calculation (n = 11) and those with time interval between TTE and cath >60 days were excluded (n = 14). Qp/Qs was calculated from stored clips by previously described methods and correlated with those obtained by oximetry. Patients were subdivided into two age groups <21 (Group 1) and ≥22 years (Group 2). TTE and cath methods for Qp/Qs estimation were compared using paired t-test, Pearson's correlation coefficient, and Bland-Altman plots. Results: Eighty-four subjects met inclusion criteria (age range 3-78 years). Group 1 n = 35; median age 10 years; Group 2 n = 49; median age 49 years. Transthoracic echocardiogram was performed 19.5 ± 15 days prior to cath. Mean Qp/Qs derived by cath and TTE were 2.09 ± 0.9 versus 2.54 ± 1.2 (P < 0.0001). Overall correlation was poor between the methods (r 2 = 0.32, P < 0.0001) and continued to be poor for Groups 1 and 2 (r 2= 0.24, P = 0.003 and r 2= 0.40, P < 0.0001 respectively). Bland-Altman plots demonstrated poor agreement between the predetermined limits of agreement (-0.5-1.5). Conclusion: Transthoracic echocardiography estimated Qp/Qs, although routinely utilized in clinical practice, has poor correlation and agreement with oximetry-derived Qp/Qs. The test performs poorly in all age groups in detecting a hemodynamically significant shunt and tends to overestimate the degree of left to right shunt.

Risk factors for development of obesity in an ethnically diverse CHD population.

OBJECTIVES: Previous cross-sectional studies have demonstrated obesity rates in children with CHD and the general paediatric population. We reviewed longitudinal data to identify factors predisposing to the development of obesity in children, hypothesising that age may be an important risk factor for body mass index growth.Study designRetrospective electronic health records were reviewed in all 5-20-year-old CHD patients seen between 2011 and 2015, and in age-, sex-, and race/ethnicity-matched controls. Subjects were stratified into aged cohorts of 5-10, 11-15, and 15-20. Annualised change in body mass index percentile (BMI%) over this period was compared using paired Student's t-test. Linear regression analysis was performed with the CHD population. RESULTS: A total of 223 CHD and 223 matched controls met the inclusion criteria for analysis. Prevalence of combined overweight/obesity did not differ significantly between the CHD cohort (24.6-25.8%) and matched controls (23.3-29.1%). Univariate analysis demonstrated a significant difference of BMI% change in the age cohort of 5-10 (CHD +4.1%/year, control +1.7%/year, p=0.04), in male sex (CHD +1.8%/year, control -0.3%/year, p=0.01), and status-post surgery (CHD 2.03%/year versus control 0.37%, p=0.02). Linear regression analysis within the CHD subgroup demonstrated that age 5-10 years (+4.80%/year, p<0.001) and status-post surgery (+3.11%/year, p=0.013) were associated with increased BMI% growth. CONCLUSIONS: Prevalence rates of overweight/obesity did not differ between children with CHD and general paediatric population over a 5-year period. Longitudinal data suggest that CHD patients in the age cohort 5-10 and status-post surgery may be at increased risk of BMI% growth relative to peers with structurally normal hearts.

Abnormalities in Left Ventricular Rotation Are Inherent in Young Children with Repaired Tetralogy of Fallot and Are Independent of Right Ventricular Dilation.

Left ventricular (LV) dysfunction is a risk factor for adverse outcomes in older children and adults with repaired Tetralogy of Fallot (rToF). Pulmonary regurgitation (PR), right ventricular (RV) dilation, and dysfunction have been shown to result in abnormal LV myocardial mechanics and dysfunction. The aim of our study was to evaluate LV rotational mechanics, especially apical rotation in young children with rToF with and without RV dilation. This is a retrospective, single center study in 28 asymptomatic young children with rToF (16 with RV dilation; 12 without RV dilation); 29 age-matched normal controls. RV and LV systolic and diastolic function was studied using conventional two-dimensional echocardiography (2DE) and speckle tracking echocardiography (STE). Rotational mechanics studied included basal and apical rotation (BR, AR), peak twist (calculated by difference between the apical and basal rotation), twist rate (TR), and untwist rate (UnTR). The mean age of the cohort was 4.7 years (± 2.3). Abnormal AR, BR, TR, and UnTR were noted in patients with rToF. The abnormalities were significant in magnitude as well as the direction of rotation; more pronounced in the absence of RV dilation. LV systolic and diastolic dysfunction as evidenced by abnormal AR and degree of untwist is inherent in rToF and not associated with RV dilation in rToF children. Abnormal BR may reflect a lack of maturation to adult type of rotational mechanics. Further longitudinal studies are required to study the progression of these abnormalities and their correlation with clinical outcomes.

Body Weights in Adults With Congenital Heart Disease and the Obesity Frequency.

Obesity may associate with greater cardiovascular risk in adults with congenital heart disease (ACHD) than in the general population. As ACHD often have exercise limitations, they may be uniquely predisposed to obesity. Nevertheless, obesity prevalence in ACHD, compared with the general population, has not been quantified in a large US cohort. Hence, we sought to determine the prevalence of obesity (30 ≤ body mass index <40) and morbid obesity (body mass index ≥40), in a large cohort of ACHD, compared with matched controls. Retrospective analysis was thus performed on all ACHD seen in an academic system in 2013. CHD severity was classified as simple, complex, or unclassified, using recently published criteria. A control group without CHD was randomly generated matching for age, gender, and race/ethnicity; 1,451 ACHD met inclusion criteria; 59.5% of ACHD were overweight to morbidly obese. Compared with controls, ACHD had similar prevalence of overweight (odds ratio [OR] 1.04, 95% confidence interval [CI] 0.89 to 1.22, p = 0.63) and obesity (OR 0.96, 95% CI 0.81 to 1.15, p = 0.69) but lower prevalence of morbid obesity (OR 0.24, 95% CI 0.16 to 0.34, p <0.001). These relationships were not attenuated by adjustment for CHD severity. In conclusion, ACHD are at equal risk as their matched peers to be overweight and obese. This is the largest study of obesity in US ACHD and the highest reported obesity prevalence in ACHD to date. As obesity is associated with significant cardiovascular risk, our findings indicate a need for improved lifestyle counseling in patients with CHD of all ages.

Utility of Multimodality Imaging in the Morphologic Characterization of Anomalous Aortic Origin of a Coronary Artery.

BACKGROUND: Anomalous aortic origin of a coronary artery from the wrong Sinus of Valsalva (AAOCA) is a rare congenital anomaly and is associated with sudden cardiac death. Morphologic features considered to be "high risk" are significant luminal narrowing, acute coronary angulation at its origin, intramural course, and long interarterial course. A consistent approach for characterization of these features is lacking. METHODS: A retrospective single-center review of all patients diagnosed with AAOCA using echocardiogram and computed tomography (CT)/magnetic resonance imaging (MRI) studies was performed. Twenty-nine patients were identified (25 using CT and 4 using MRI) with subsequent three-dimensional data sets. The MRI data sets lacked adequate resolution and were excluded. Twenty-five patients (median age 15.1, range 10-39.5 years, 72% male) were further analyzed using echocardiogram and CT. Morphologic assessment focused on luminal stenosis, coronary angulation, and interarterial length. Additional morphologic features focusing on cross-sectional area and degree of ellipticity were also assessed. RESULTS: Echocardiography tended to yield smaller measurements compared to CT and had poor interobserver reproducibility for measurements pertaining to the narrowest proximal and distal coronary segments. Computed tomography showed good inter-/intraobserver reproducibility for the same. Agreement between both modalities for coronary angulation at its origin was excellent. There was good agreement for measurements of interarterial length between echocardiography and CT, but echocardiography had superior reproducibility. Assessment of luminal cross-sectional area and elliptical shape by CT had excellent inter-/intraobserver reproducibility. CONCLUSION: The combination of echocardiography and CT characterizes morphologic features of anomalous origin of the coronary artery more reliably than either modality alone.

Application of Virtual Three-Dimensional Models for Simultaneous Visualization of Intracardiac Anatomic Relationships in Double Outlet Right Ventricle.

Our goal was to construct three-dimensional (3D) virtual models to allow simultaneous visualization of the ventricles, ventricular septal defect (VSD) and great arteries in patients with complex intracardiac anatomy to aid in surgical planning. We also sought to correlate measurements from the source cardiac magnetic resonance (CMR) image dataset and the 3D model. Complicated ventriculo-arterial relationships in patients with complex conotruncal malformations make preoperative assessment of possible repair pathways difficult. Patients were chosen with double outlet right ventricle for the complexity of intracardiac anatomy and potential for better delineation of anatomic spatial relationships. Virtual 3D models were generated from CMR 3D datasets. Measurements were made on the source CMR as well as the 3D model for the following structures: aortic diameter in orthogonal planes, VSD diameter in orthogonal planes and long axis of right ventricle. A total of six patients were identified for inclusion. The path from the ventricles to each respective outflow tract and the location of the VSD with respect to each great vessel was visualized clearly in all patients. Measurements on the virtual model showed excellent correlation with the source CMR when all measurements were included by Pearson coefficient, r = 0.99 as well as for each individual structure. Construction of virtual 3D models in patients with complex conotruncal defects from 3D CMR datasets allows for simultaneous visualization of anatomic relationships relevant for surgical repair. The availability of these models may allow for a more informed preoperative evaluation in these patients.

Anomalous Aortic Origin of Coronary Arteries in the Young: Echocardiographic Evaluation With Surgical Correlation.

OBJECTIVES: This study sought to compare findings from institutional echocardiographic reports with imaging core laboratory (ICL) review of corresponding echocardiographic images and operative reports in 159 patients with anomalous aortic origin of a coronary artery (AAOCA). The study also sought to develop a "best practice" protocol for imaging and interpreting images in establishing the diagnosis of AAOCA. BACKGROUND: AAOCA is associated with sudden death in the young. Underlying anatomic risk factors that can cause ischemia-related events include coronary arterial ostial stenosis, intramural course of the proximal coronary within the aortic wall, interarterial course, and potential compression between the great arteries. Consistent protocols for diagnosing and evaluating these features are lacking, potentially precluding the ability to risk stratify patients based on evidence and plan surgical strategy. METHODS: For a prescribed set of anatomic AAOCA features, percentages of missing data in institutional echocardiographic reports were calculated. For each feature, agreement among institutional echocardiographic reports, ICL review of images, and surgical reports was evaluated using the weighted kappa statistic. An echocardiographic imaging protocol was developed heuristically to reduce differences between institutional reports and ICL review. RESULTS: A total of 13%, 33%, and 62% of echocardiograms were missing images enabling diagnosis of intra-arterial course, proximal intramural course, and high ostial takeoff, respectively. There was poor agreement between institutional reports and ICL review for diagnosis of origin of coronary artery, interarterial course, intramural course, and acute angle takeoff (kappa = 0.74, 0.11, -0.03, 0.13, respectively). Surgical findings were also significantly different from those of reports, and to a lesser extent ICL reviews. The resulting protocol contains technical recommendations for imaging each of these features. CONCLUSIONS: Poor agreement between institutional reports and ICL review for AAOCA suggests need for an imaging protocol to permit evidence-based risk stratification and surgical planning. Even then, delineation of echocardiographic details in AAOCA will remain imperfect.

Malattached septum primum and deficient septal rim predict unsuccessful transcatheter closure of atrial communications.

OBJECTIVES: Assess impact of malattached septum primum (MASP) on transcatheter closure of interatrial communications. BACKGROUND: Large defect size and deficient rims have been described as predictors for complications and unsuccessful device placement in closure of interatrial communications. MASP is an underappreciated morphologic atrial septal variation whose prevalence in isolated atrial communications and its influence on percutaneous device closure has not been systematically assessed. METHODS: We retrospectively evaluated echocardiographic data of 328 patients scheduled for percutaneous secundum atrial septal defect (ASD) and patent foramen ovale (PFO) closure between January 2006 and January 2013. In ASD patients, defect size was measured by balloon stretch diameter while the length of the surrounding rims was measured in standard transthoracic and transesophageal views. Furthermore, the distance between septum primum and septum secundum as it attaches to the left atrial roof was evaluated in both, ASD and PFO patients. Septal anatomy of patients with procedural failure was compared to the anatomy of patients in whom the procedure was successful. RESULTS: Transcatheter defect closure was successful in 131 (92.3%) of 142 ASD patients (32.3 years ± 24.7 years) and in all 186 PFO patients (49.6 years ± 16.2 years). Thirteen (4%) patients were found to have MASP (1.6 mm-13 mm). Smaller retroaortic rim, inferior rim, and the presence of a MASP were independently associated with procedural failure in ASD patients (P = 0.02, P = 0.03, and P = 0.003, respectively). CONCLUSION: Smaller retroaortic and inferior rims, as well as MASP are independent risk factors for unsuccessful transcatheter ASD closure.

Two-dimensional speckle-tracking-derived segmental peak systolic longitudinal strain identifies regional myocardial involvement in patients with myocarditis and normal global left ventricular systolic function.

The presence of myocardial late gadolinium enhancement (LGE) by cardiac magnetic resonance (CMR) imaging in concert with electrocardiography and elevated biomarkers helps support the diagnosis of acute myocarditis. Two-dimensional echocardiography is limited to global and qualitative regional function assessment and may not contribute to the diagnosis, especially in the presence of normal LV systolic function. Two-dimensional speckle-tracking (2D-STE)-derived segmental peak systolic (pkS) longitudinal strain (LS) may identify segmental myocardial involvement in myocarditis. We sought to identify an association between segmental pkS, LGE, and troponin levels in patients with myocarditis. Retrospective analysis of myocardial segmental function by 2D-STE segmental strain was compared to the presence of LGE and admission peak troponin levels in patients with acute myocarditis and preserved global LV systolic function. American Heart Association 17-segment model was used for comparison between imaging modalities. Global function was assessed by m-mode-derived shortening fraction (SF). Descriptive statistics and regression analysis were utilized. Forty-four CMRs performed to evaluate for myocarditis were identified. Of the 44, 10 patients, median age 17.5 years (14-18.5 years) and median SF 35 % (28-44 %), had paired CMR and 2D-STE data for analysis, and 161/170 segments could be analyzed by both methods for comparison. PkS LS was decreased in 51 % of segments that were positive for LGE with average pkS of -14.7 %. Segmental pkS LS abnormalities were present in all but one patient who had abnormal pkS circumferential strain. Global pkS LS was decreased in patients with myocarditis. There is a moderate correlation between decreased pkS LS and the presence of LGE by CMR, 2D-STE for myocardial involvement in acute myocarditis can serve as an useful noninvasive adjunct to the existing tests used for the diagnosis of acute myocarditis and might have a role in prognostication.

Applicability of published guidelines for assessment of left ventricular diastolic function in adults to children with restrictive cardiomyopathy: an observational study.

Guidelines for diagnosis and grading of diastolic dysfunction (DD) in children have not been established. The applicability of adult parameters of DD to children has been questioned by recent studies. Although normal diastolic parameters in children have been published, the data to support application of these indices for the non-invasive diagnosis of DD and quantifying its degree are still being developed. Restrictive cardiomyopathy (RCM) is the only recognized disease entity in children that presents with isolated, irreversible DD as the predominant finding. The aim of this study was to investigate the applicability of current diastolic indices used for assessment of diastolic function in adults as reliable indicators of DD in children with established RCM. Retrospective review of institutional clinical database for the period of 2002-2010 was performed to identify patients with RCM who had had a comprehensive echocardiographic assessment of diastolic function. The following parameters were obtained from apical four chamber view: mitral valve (MV) inflow Doppler early filling velocity (E), late filling velocity (A), deceleration time (DT), color M-mode flow propagation from MV to apex (Vp), Doppler tissue imaging derived early diastolic velocity E' and late diastolic velocity A' at the LV lateral wall at MV annulus, RV at the tricuspid valve annulus, septum, and LA area. All parameters were compared to age and gender matched controls using student t test. : LA area/BSA was significantly larger in RCM group than the control group, median 22.8 cm(2)/m(2) (range 16.9-28.6) versus 10.3 cm(2)/m(2) (range 8.3-12.3), p value <0.001. MV inflow E and A were lower, and DT was shorter in the RCM group (p = 0.04, 0.02, and 0.005, respectively). A wave was absent in 3 of 9 patients in the RCM group. Ratio of E to A (E/A) was not different between the two groups. E' was significantly lower at all three sites in RCM group; however, there was some overlap between the two groups. E/septal E' ratio was statistically significantly higher in RCM group. A' was absent either at lateral wall or at septum in five patients. 7 of 9 patients in RCM group had L' wave (at lateral wall or septum) defined as negative deflection during diastasis. Vp was higher in RCM group than in the control group 81.4 ± 44.5 versus 52.9 ± 10.9, p value <0.01. Combination of increased left atrial size, septal E/E', and lack of A wave and presence of mid-diastolic L'-wave are the noted abnormalities in this group. Individual cut-offs for Doppler indices have very poor sensitivity in identifying restrictive physiology. These findings suggest that poor LV compliance is the hallmark of restrictive cardiomyopathy in children even in the presence of normal early relaxation and ventricular filling. These findings support the need for development of guidelines for diagnosis and physiologic grading of diastolic dysfunction in children.

Subpulmonary stenosis assessed in midtrimester fetuses with tetralogy of Fallot: a novel method for predicting postnatal clinical outcome.

This study aimed to determine whether quantification of subpulmonary stenosis (SPS) in tetralogy of Fallot (TOF) in the second-trimester fetus can predict postnatal clinical outcome measured by pulmonary valve size and/or timing or type of intervention. The study retrospectively identified fetuses with TOF from 1998 to 2010 diagnosed at 26 weeks gestation or earlier. The data evaluated included pre- and postnatal pulmonary valve z-scores (PVZ). To quantify fetal SPS, the authors created a novel index, the SPS/DAO ratio, a ratio of the minimum infundibular diameter to the descending aorta diameter (DAO). Multiple linear regression was used to predict postnatal PVZ from prenatally determined parameters, including SPS/DAO. Fetal parameters were analyzed by logistic regression for association with postnatal outcomes, namely, timing of surgery (<1 month), used as a surrogate for severity, and type of surgery [transannular patch (TAP) vs valve sparing surgery]. A total of 23 fetuses met the inclusion criteria. The mean gestational age was 21.8 ± 1.9 weeks (range, 16.6-25.4 weeks). There was excellent correlation between predicted and measured PVZ (r = 0.82; p < 0.0001) using the following derived equation: -3.68 + (0.91 × prenatal PVZ) - (4.44 × SPS/DAO) - 3.19 (prenatal PVZ × SPS/DAO). An SPS/DAO value lower than 0.5 had 100 % sensitivity and 56 % specificity for repair before the age of 1 month, and a value lower than 0.47 had 100 % sensitivity and 75 % specificity for TAP repair. Prenatal PVZ and the SPS/DAO ratio at 26 weeks gestation or earlier can reliably predict postnatal PVZ in fetuses with TOF. Quantification of SPS with the SPS/DAO ratio identifies patients who may require early intervention secondary to disease severity and may predict the type of repair, thereby influencing prenatal counseling.

Echocardiographic myocardial deformation evaluation of right ventricular function in comparison with CMRI in repaired tetralogy of Fallot: a cross-sectional and longitudinal validation study.

BACKGROUND: Decreased right ventricular (RV) ejection fraction (EF) increases morbidity in repaired tetralogy of Fallot (rToF). Cardiac magnetic resonance (CMR) is the accepted reference standard for RV EF measurement. There are no established color Doppler tissue imaging (cDTI) values that identify decreased RV EF in rToF. We sought to assess accuracy of cDTI myocardial deformation and velocity indices in predicting CMR-derived RV EF. METHODS: Retrospective evaluation of CMR and echocardiography studies performed on the same day. cDTI-derived peak systolic velocity (pkS), isovolumic acceleration (IVA) of the tricuspid valve annulus, strain (ε) and strain rate (SR) of the RV free wall, adjusted for age, volume and pressure overload were used to compute RV EF. The probability of correctly classifying CMR measured RV EF <45% was estimated by logistic regression analysis. The accuracy of the model was tested on 10 prospective patients. RESULTS: Sixty matched echocardiographic and CMR studies were analyzed. None of the individual cDTI parameters could reliably identify patients with CMR-derived decreased RV EF. However, when adjusted for age in a logistic model: Y = -0.5 - 0.07 × age + 0.016 × Îµ + 0.46 × pkS, where Y is the logit (log odds), patients with RV EF <45% were identified with 86% sensitivity, 93.5% specificity. Prospective application of this model correctly identified all subjects with RV EF <45%. CONCLUSION: The age-adjusted logistic model and not individual parameters, derived from cDTI-derived pkS, and ε can reliably identify patients with decreased RV EF <45%.

The role of right ventricular function in paediatric idiopathic dilated cardiomyopathy.

INTRODUCTION: The prevalence of right ventricular dysfunction in idiopathic dilated cardiomyopathy is incompletely studied in children. Furthermore, right ventricular function may signal worse outcomes. We evaluated recently published right ventricular function echocardiographic indices in identifying dysfunction in children with idiopathic dilated cardiomyopathy and the impact of right ventricular dysfunction on long-term prognosis. METHODS: A retrospective database review of right ventricular function indices in 30 patients with idiopathic dilated cardiomyopathy was compared with 60 age- and sex-matched controls from January, 2001 until December, 2010. Right ventricular function was assessed by Doppler tissue peak systolic S', early and late diastolic E' and A' waves and isovolumic acceleration at the tricuspid valve annulus; pulsed wave Doppler tricuspid valve inflow E and A waves; right ventricular myocardial performance index; tricuspid annular plane systolic excursion; right ventricular fractional area change. RESULTS: Right ventricular systolic and diastolic function in idiopathic dilated cardiomyopathy was significantly impaired. All measured indices except for isovolumic acceleration and fractional area change were significantly reduced, with a p-value less than 0.05. There was no right ventricular index predictive of death or transplantation. Patients with poor outcome were significantly more likely to need inotropic support (p-value equal to 0.018), be placed on a ventricular assist device (p equal to 0.005), and have a worse left ventricular ejection fraction z-score (p-value equal to 0.002). CONCLUSION: Right ventricular dysfunction is under-recognised in children presenting with idiopathic dilated cardiomyopathy. The need for clinical circulatory support and left ventricular ejection fraction z-score less than minus 8 were primary determinants of outcome, independent of the degree of derangement in right ventricular function.

Imaging of congenital coronary artery anomalies.

Imaging of the coronary arteries is an important part of the evaluation of children with congenital heart disease and isolated congenital coronary artery anomalies. Echocardiography remains the main imaging modality and is complemented by MRI and CT angiography in the older or difficult-to-image child. We review echocardiography, MRI, and CT angiography for coronary artery imaging, with emphasis on techniques. The clinical implications of isolated congenital coronary artery anomalies are also addressed, along with a discussion about the current consensus on optimal management of these anomalies.

Outcomes of mitral regurgitation associated with large ventricular septal defect and a normal mitral valve apparatus: does intact atrial septum have an impact?

The hemodynamics of isolated large ventricular septal defect with an intact atrial septum results in greater mitral valve (MV) annular dilation and an increased incidence of mitral regurgitation (MR). MR will resolve in most patients after surgical VSD closure alone without MV repair.