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Background:Scimitar syndrome is a rare CHD composed of partial anomalous pulmonary venous connection from the right lung, via a scimitar vein, to the inferior vena cava rather than the left atrium. Genetic conditions associated with scimitar syndrome have not been well investigated at present.Methods:Our study included patients with scimitar syndrome diagnosed at Texas Children’s Hospital from January 1987 to July 2020. Medical records were evaluated to determine if genetic testing was performed, including chromosomal microarray analysis or whole-exome sequencing. Copy number variants identified as pathogenic/likely pathogenic and variants of unknown significance were collected. Analyses of cardiac and extracardiac findings were performed via chart review.Results:Ninety-eight patients were identified with scimitar syndrome, 89 of which met inclusion criteria. A chromosome analysis or chromosomal microarray analysis was performed in 18 patients (20%). Whole-exome sequencing was performed in six patients following negative chromosomal microarray analysis testing. A molecular genetic diagnosis was made in 7 of 18 cases (39% of those tested). Ninety-six per cent of the cohort had some type of extracardiac finding, with 43% having asthma and 20% having a gastrointestinal pathology. Of the seven patients with positive genetic testing, all had extracardiac anomalies with all but one having gastrointestinal findings and 30% having congenital diaphragmatic hernia.Conclusions:Genetic testing revealed an underlying diagnosis in roughly 40% of those tested. Given the relatively high prevalence of pathogenic variants, we recommend chromosomal microarray analysis and whole-exome sequencing for patients with scimitar syndrome and extracardiac defects.

Birth outcomes data for patients with vascular Ehlers-Danlos syndrome (VEDS) are limited.Patients with a pathogenic or likely pathogenic COL3A1 variant were included. Outcomes included gestational age (GA), birthweight (BW), and maternal complications. Birth outcomes were first compared with that of US population data, then compared by sex, maternal affected status, and COL3A1 genotype.A total of 41 children were included (70.7% male), including 32 with high-risk (missense and splice site) variants. Preterm birth (37 weeks) was more common in patients with VEDS than in the US population (48.8% vs 12.2%, P.0001). Low BW (2.5 kg) was also more common in patients with VEDS than in the US population (P.0001), although, it was appropriate after GA adjustment (median GA-adjusted z-score 0.01 vs z-score 0.0, P = .26). No differences in GA or BW were observed by sex or maternal affected status. Those with high-risk variants were more likely to be born preterm than those with haploinsufficient variants, although this did not meet significance criteria (53% vs 33%, P = .35). Of the 6 affected mothers, 5 had perinatal complications.Preterm birth is more common in children with VEDS than in the general population. Maternal affected status is not associated with preterm birth, suggesting that risk is conferred by the fetal VEDS diagnosis alone.

Introduction: Arterial tortuosity syndrome (ATS) is an ultra-rare arteriopathy caused by pathogenic biallelic variants in SLC2A10 leading to tortuosity, elongation, and dilation of vessels, and pulmonary artery (PA) stenosis (Fig 1). No studies to date have evaluated the progression of cardiovascular (CV) features, including aortic root (AR) and ascending aorta (AA) dilation. Hypothesis: We hypothesize AR and AA dilation progress similar to other aortopathies with increase dimensions but stable z-scores in childhood. Methods: A retrospective cohort study of patients at our institution with ATS, defined by homozygous or compound heterozygous SLC2A10 mutations with consistent phenotypes, from 2000-2021 was conducted. CV imaging, medications, and interventions were reviewed. AR and AA measurements were collected from echocardiographic reports and z-scores were calculated. Dilation was defined as z-score > +2. Slopes were calculated using mixed linear regression. Results: Six subjects (5 males) aged 1 month-16 years at diagnosis were included. All had AR dilation, 50% had AA dilation, and 50% had main or branch PA stenosis at a given point. CV intervention was only performed in 1 patient who underwent multiple bilateral PA angioplasties and stenting for severe distal branch PA hypoplasia. Three patients were prescribed beta-blockers, of whom one was also prescribed losartan. Figure 2 shows mean slopes for AR and AA changes. No patients had aortic dissection or CV surgery. Conclusions: In conclusion, AR and AA dilation persist in ATS but with stable z-scores similar to other aortopathies. Larger sample size investigations may further elucidate the role of medications in ATS.

Risk stratification in anomalous aortic origin of a coronary artery (AAOCA) is challenged by the lack of a reliable method to detect myocardial ischemia. We prospectively studied the safety and feasibility of Dobutamine stress-cardiac magnetic resonance (DSCMR), a test with excellent performance in adults, in pediatric patients with AAOCA.Consecutive DSCMR from 06/2014-12/2019 in patients≤20 years old with AAOCA were included. Hemodynamic response and major/minor events were recorded. Image quality and spatial/temporal resolution were evaluated. Rest and stress first-pass perfusion and wall motion abnormalities (WMA) were assessed. Inter-observer agreement was assessed using kappa coefficient.A total of 224 DSCMR were performed in 182 patients with AAOCA at a median age of 14 years (IQR 12, 16) and median weight of 58.0 kg (IQR 43.3, 73.0). Examinations were completed in 221/224 (98.9%), all studies were diagnostic. Heart rate and blood pressure increased significantly from baseline (p0.001). No patient had major events and 28 (12.5%) had minor events. Inducible hypoperfusion was noted in 31/221 (14%), associated with WMA in 13/31 (42%). Inter-observer agreement for inducible hypoperfusion was very good (Κ = 0.87). Asymptomatic patients with inducible hypoperfusion are considered high-risk and those with a negative test are of standard risk.DSCMR is feasible in pediatric patients with AAOCA to assess for inducible hypoperfusion and WMA. It can be performed safely with low incidence of major/minor events. Thus, DSCMR is potentially a valuable test for detection of myocardial ischemia and helpful in the management of this patient population.

Introduction: Cardiomyopathy has been described in some adults with Marfan syndrome (MFS), as demonstrated by low ejection fraction (EF) and abnormal left ventricular (LV) strain. Recent studies from our group show that LV dilation and decreased EF are common in children with MFS. However, LV strain remains understudied in children. Hypothesis: Abnormal strain is associated with lower EF, higher aortic root z-score and higher height-adjusted vertebral artery tortuosity index (VTI-h). In addition, abnormal strain with normal EF is associated with a subsequent decline in EF. Methods: Patients with MFS, defined as meeting Ghent 2010 criteria and a pathogenic FBN1 variant or ectopia lentis, Results: Of 31 included patients, median age at first CMR was 13.5 y (IQR 10.7-16.2 y). Worse circumferential strain was associated with lower EF (basal: rho = -0.586, p = 0.001; mid: rho = -0.573, p = 0.001; apical: rho = -0.406, p = 0.026), while longitudinal strain was not associated with EF (p = 0.063, 0.257, 0.260). Neither circumferential nor longitudinal strain were associated with aortic root z-score or VTI-h. Among patients with normal EF, initial circumferential strain was not different between patients who maintained normal EF or developed low EF. Conclusions: Worse LV circumferential strain was associated with lower EF in children with MFS, while longitudinal strain was not. Abnormal strain was not associated with aortic pathology or later development of reduced EF. This suggests that the cardiomyopathy seen in children with MFS is likely independent of aortic pathology.

Introduction: Cardiovascular outcomes in Williams syndrome (WS) with supravalvar aortic stenosis (SVAS) compared to those with non-Williams SVAS (NW-SVAS) have not been well-described in literature. Hypothesis: Cardiovascular outcomes are similar in SVAS patients in WS and those with NW-SVAS as both are typically mediated by elastin ( ELN ) deficiency. Methods: We included all patients (pts) at our institution with 1) WS and SVAS or 2) SVAS with negative testing for WS (2003-2020), excluding pts with Alagille or Turner syndrome, isolated bicuspid aortic valve, postoperative acquired SVAS, or insufficient records. We compared cardiovascular lesions and freedom from intervention using Kaplan-Meier analysis with comparison by log rank. Results: Of 163 included SVAS pts (67 WS, 96 NW-SVAS), 75 (46%) were females. Median age at last follow up was 11.9 years (IQR 5.7, 17). Of ELN testing performed in 13 NW-SVAS patients, 8 had pathogenic variants. The rest of the NW-SVAS cohort included 22 familial and 61 non-familial cases. Branch pulmonary artery stenosis (BPAS), renal artery stenosis (RAS), and hypertension were more prevalent in WS than in NW-SVAS (p=0.001, Table). There was no difference in freedom from BPAS intervention between the groups, but the WS group was significantly more likely to undergo intervention for RAS or be treated for hypertension (Figure). No difference was noted for SVAS, coarctation or coronary outcomes. Conclusion: For most cardiovascular lesions, there was no difference in interventions between WS and NW-SVAS. The increased intervention rate for RAS and hypertension in WS may reflect lower screening rates in NW-SVAS

Right atrial (RA) size is a prognostic indicator for heart failure and cardiovascular death in adults. Data regarding use of RA area (RAA) by two-dimensional echocardiography as a surrogate for RA size and allometric modeling to define appropriate indexing of the RAA are lacking. Our objective was to validate RAA as a reliable measure of RA size and to define normal reference values by transthoracic echocardiography (TTE) in a large population of healthy children and develop Z-scores using a validated allometric model for indexing RAA independent of age, sex, and body size. Agreement between RAA and volume by 2D, 3D TTE, and MRI was assessed. RAA not volume by 2D TTE is an excellent surrogate for RA size. RAA/BSA1 has an inverse correlation with BSA with a residual relationship to BSA (r = − 0.54, p 1 m2, respectively, and was validated against an independent sample. The mean indexed RAA ± SD for BSA ≤ 1 m2 and > 1 m2 is 9.7 ± 1.3 cm2 and 8.7 ± 1.3 cm2, respectively, and was used to derive Z-scores. RAA by 2D TTE is superior to 2D or 3D echocardiography-derived RA volume as a measure of RA size using CMR as the reference standard. RAA when indexed to BSA1, decreases as body size increases. The best-fit allometric modeling is used to create Z scores. RAA/BSA0.95 for BSA 1 m2 can be used to derive Z scores.

Background Atrial transseptal puncture (TSP) for cardiac catheterization procedures remain challenging in children and adults with complex congenital heart disease (CHD). Objectives We sought to evaluate our experience using radiofrequency (RF) current via surgical electrocautery needle for TSP to facilitate diagnostic and interventional procedures. Methods Retrospective chart review of all patients (pts) who underwent TSP using RF energy (10–25 W) via surgical electrocautery from three centers from January 2011 to January 2017 were evaluated. Echocardiograms were reviewed to define the atrial septum as normal and complex (thin aneurysmal, thick/fibrotic, synthetic patch material, and extra cardiac conduit). Results A total of 54 pts underwent 55 successful TSP. Median age was 12.5 years (1 day–54 years) and weight was 52.7 kg (2–162). Indications for TSP included; EP study and ablation procedures in structurally normal hearts (n = 24) and in complex atrial septum/CHD and structural heart disease pts (n = 30): Electrophysiology study and ablation in 4, diagnostic catheterization in 9, and interventional procedures in 17 pts were performed. Atrial TSP was successful in 54/55 (98%). Atrial perforation with tiny-small pericardial effusion not requiring intervention was noted in 2 pts. TSP was unsuccessful in one critically ill neonate with unobstructed TAPVR and restricted atrial septum who experienced cardiac arrest requiring CPR, ECMO, and emergent surgery. Conclusions RF current delivery using surgical electrocautery for TSP is a feasible and an effective option in patients with complex CHD for diagnostic, interventional, and electrophysiology procedures.

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.

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.

Adults with Marfan syndrome (MFS) have demonstrated increased biventricular volumes and decreased left ventricular (LV) ejection fraction (EF), consistent with an intrinsic cardiomyopathy. This study evaluated ventricular size and function in pediatric MFS using cardiac magnetic resonance (CMR).

Vertebral artery tortuosity has been associated with adverse events in Marfan and Loeys-Dietz syndromes, but has not been assessed in Vascular Ehlers-Danlos syndrome (VEDS). Subjects

This case describes an infantile presentation of left main coronary artery atresia (LMCAA), which involves complete absence of the left coronary ostium and left main coronary artery. The echocardiographic features of LMCAA that assist in making this diagnosis are detailed. Important imaging features that distinguish LMCAA from anomalous left coronary artery from the pulmonary artery are highlighted.

Cardiac magnetic resonance (CMR) assesses myocardial involvement in myocarditis (MYO). Current techniques are qualitative, subjective, and prone to interpretation error. Feature tracking (FT) analyzes myocardial strain using CMR and has not been examined in MYO. We hypothesize that regional left ventricular (LV) strain is abnormal in MYO. Regional strain by FT was compared to late gadolinium enhancement (LGE) and troponin leak as measures of myocardial involvement. This single-center, retrospective CMR study reviewed patients with clinical MYO and structurally normal hearts who underwent CMR at our institution. Young adults with normal cardiac anatomy, function, and absent LGE served as controls. MYO patients with documented troponin leak and normal global ejection fraction (EF > 50 %) were included in comparison. FT determined regional myocardial peak systolic strain (pkS) in longitudinal and circumferential distributions. T tests compared strain values between cases and controls. Receiver operating characteristic curves determined pkS values with highest sensitivity and specificity for concurrent troponin leak and LGE. FT was performed on 57 patients: 37 MYO and 20 controls. Twenty-eight cases with normal EF, and 20 control patients were included in final analysis. Nearly all cases with normal function demonstrated abnormal regional pkS (27/28, 96 %). Cases had significantly diminished pkS when compared to controls in all regions except the longitudinal 2C distribution. FT-derived longitudinal and circumferential pkS is sensitive and specific in identifying myocardial involvement, namely the presence of troponin leak and LGE. FT may be a useful adjunctive, objective measure of myocardial involvement in patients with MYO and normal LV function.

Background: Repair of anomalous left coronary artery from the right pulmonary artery presents a particular technical challenge to the congenital cardiac surgeon. There is disagreement in the literature over the optimal technique for this defect, with some authors advocating for unroofing of the periaortic segment of coronary artery, while others prefer direct aortic reimplantation of the artery. Methods: We performed a retrospective study examining outcomes of patients who were repaired for this anomaly at our institution. In-hospital and outpatient follow-up data were analyzed. Results: Nine patients were identified. Most patients had poor left ventricular function at the time of surgery. All patients in our series were repaired using the direct coronary transfer technique. To date there were no mortalities among the study participants. At last follow-up, all patients with available echocardiograms had normal ventricular function. One patient required reoperation for anastomotic stenosis. Conclusions: We demonstrate that using the technique of direct coronary transfer to the aorta, we have achieved excellent results with repair of this defect.

Background Cardiac magnetic resonance imaging (CMR) is frequently used to assess myocardial involvement to confirm diagnosis of myocarditis. CMR techniques employ T2weighted, early and late gadolinium enhancement (LGE), with two positive sequences widely considered diagnostic for myocardial inflammation. However, these techniques are qualitative and subjective, thus prone to interpretation error. Feature tracking (FT) allows quantitative segmental myocardial strain analysis using traditional cine CMR images. Our hypothesis was that left ventricular (LV) segmental strain would be a more sensitive indicator for myocardial involvement in patients with clinical myocarditis. Regional strain was compared to presence of LGE as a measure of myocardial involvement.

Little is known about preoperative factors affecting postoperative morbidity following anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) repair. This study aimed at identifying predictors of postoperative outcomes, including mortality and left ventricle (LV) normalization. A retrospective, single institution review was conducted on forty-four ALCAPA repairs from April 1991 to November 2012. Preoperative clinical data and echocardiograms were analyzed. Postoperative outcomes included duration of intensive care supports and mortality. Time to normalization of LV end diastolic dimension (LVEDD) and function were assessed. Logistic regression and Cox proportional hazard analyses were used to correlate preoperative variables to postoperative outcomes. Forty-four patients underwent ALCAPA repair. No in-hospital or late mortality was observed. LVEDD, weight, and LV shortening fraction (SF) independently predicted duration of postoperative inotropic support. LVEDD and body surface area independently predicted the duration of postoperative intubation. For the infant majority, younger age predicted longer duration of postoperative intubation (p = 0.048) and LVEDD Z-score independently predicted duration of postoperative IV inotropic support (p = 0.042). LV function normalized in all patients for whom follow-up data was available. LVEDD Z-score independently predicted time to normalization of LV function (p = 0.013). ALCAPA repair in the current era has excellent outcomes, with no mortality in our cohort. Immediate postoperative morbidities are influenced by patient size, LVEDD, and preoperative SF. Outcomes of infantile ALCAPA are influenced by the degree of LV dilation. Time to normalization of LV function is related to LVEDD. Limitations included retrospective evaluation of LV function.