Supravalvular and Valvular Pulmonary Stenosis: Predictive Features and Responsiveness to Percutaneous Dilation.

Supravalvular pulmonary stenosis (SVPS) is considered a rare form of pulmonary stenosis (PS) and represents both a diagnostic and therapeutic challenge. There currently exist no reliable echocardiographic criteria to accurately predict the supravalvular form. The aims of the study were to describe the response to treatment of the different PS presentations and to outline the diagnostic capacity of echocardiogram to differentiate the SVPS from valvular PS (VPS). This retrospective study included 106 patients who underwent percutaneous angioplasty between 2006 and 2017. Interventional outcomes of patients with SVPS were compared to those of patients with VPS. Diagnosis of VPS vs. SVPS by echocardiogram was compared to diagnosis obtained by angiogram. Echocardiogram yielded a sensitivity of 56%, a specificity of 82.5%, a positive predictive value of 50%, and a negative predictive value of 85.7%. Patients with SVPS had a significantly smaller pulmonary artery to pulmonary valve (PA:PV) ratio. At 6-12 months of follow-up, the VPS group had a mean right ventricular to pulmonary artery (RV-PA) gradient of 21.68 ± 19.85 mmHg compared to 45.27 ± 24.58 mmHg in the SVPS group. Patients with SVPS had a higher rate of reintervention than patients with VPS (32% vs. 6.2%, p < 0.001). There was no difference in major complications between groups, whereas VPS patients had a higher proportion of pulmonary insufficiency. Percutaneous angioplasty for PS is less effective in patients with a supravalvular component. A better understanding of the underlying histopathology of different PS subtypes could lead to development of different techniques to improve outcomes, with fewer reinterventions, in this population.

Novel Z Scores to Correct Biases Due to Ventricular Volume Indexing to Body Surface Area in Adolescents and Young Adults.

BACKGROUND: Reference values for cardiac magnetic resonance imaging (cMRI) in children and young adults are scarce. This leads to risk stratification of patients with congenital heart diseases being based on volumes indexed to body surface area (BSA). We aimed to produce cMRI Z score equations for ventricular volumes in children and young adults and to test whether indexing to BSA resulted in an incorrect assessment of ventricular dilation according to sex, body composition, and growth. METHODS: We retrospectively included 372 subjects aged < 26 years with either normal hearts or conditions with no impact on ventricular volumes (reference group), and 205 subjects with repaired tetralogy of Fallot (TOF) aged < 26 years. We generated Z score equations by means of multivariable regression modelling. Right ventricular dilation was assessed with the use of Z scores and compared with indexing to BSA in TOF subjects. RESULTS: Ventricular volume Z scores were independent from age, sex, and anthropometric measurements, although volumes indexed to BSA showed significant residual association with sex and body size. In TOF subjects, indexing overestimated dilation in growing children and underestimated dilation in female compared with male subjects, and in overweight compared with lean subjects. CONCLUSIONS: Indexed ventricular volumes measured with cMRI did not completely adjust for body size and resulted in a differential error in the assessment of ventricular dilation according to sex and body size. Our proposed Z score equations solved this problem. Future studies should evaluate if ventricular volumes expressed as Z scores have a better prognostic value than volumes indexed to BSA.

Difference Between Persistent Aneurysm, Regressed Aneurysm, and Coronary Dilation in Kawasaki Disease: An Optical Coherence Tomography Study.

BACKGROUND: Coronary artery (CA) aneurysms are a serious complication of Kawasaki disease (KD). Conventional imaging techniques often described segments with regressed aneurysms as normal, whereas studies have shown significant endothelial dysfunction. METHODS: KD patients with aneurysms scheduled for routine coronary angiography underwent optical coherence tomography (OCT) imaging between 2013 and 2016. Microstructural coronary changes were compared between normal CA segments and those with dilation, regressed aneurysms, and persistent aneurysms. RESULTS: OCT was performed on 33 patients aged 12.0 ± 5.4 years, 8.5 ± 5.4 years after KD diagnosis. Of the 79 segments analyzed, 25 had persistent aneurysms, 22 regressed aneurysms, 11 CA dilation, and 21 no CA involvement. Intimal thickness was 489 ± 173 µm, 304 ± 158 µm, 102 ± 68 µm, and 63 ± 29 µm, respectively (P < 0.001). There was a linear correlation between the maximum aneurysm size and the intimal thickness, as well as coronary dimension at the time of OCT. Fibrosis (54 segments, 68%) and cellular infiltration (22 segments, 28%) were found more often in segments with CA involvement, but also those without (P = 0.01; P = 0.02). Destruction of the media (34 segments, 43%), calcifications (6 segments, 8%), neovascularization (18 segments, 23%), and white thrombi (8 segments, 10%) were found almost exclusively in segments with a history of aneurysms. CONCLUSIONS: Intimal hyperplasia, fibrosis, and cellular infiltration were found in all categories of CA involvement, whereas calcification, destruction of the media, neovascularization, and white thrombi were found essentially only in segments with saccular or fusiform aneurysms. Prospective studies with outcome correlations are needed to see if this is associated with an increased risk of late adverse events.

Ossifying Renal Tumor of Infancy: Report of a Case With Positive WT1 Immunohistochemistry and High Mitotic Index and Review of the Literature.

Ossifying renal tumor of infancy (ORTI) is a rare, benign pediatric tumor of the kidney. Since first reported by Chatten in 1980, 23 cases have been published. Previous authors have argued that ORTI might originate from nephrogenic rests, thereby sharing a pathogenic relationship with Wilms' tumor (WT). ORTI is characterized histologically by a population of polygonal osteoblast-like cells around an osteoid core and densely cellular component of blastemal-like or spindle cells. While the immunohistochemical profile of the cellular components has been reported, to the best of our knowledge, the status of WT1 expression has only been reported once, where it showed negative marking. Mitoses have been described only sporadically in this neoplasm. We report on a case of ORTI with positive WT1 immunohistochemical marking and numerous mitoses. This case highlights a possible pitfall for misdiagnosing ORTI as a WT and provides additional insight into its pathogenesis.

Significance of lung anomalies in fetuses affected by tetralogy of Fallot with absent pulmonary valve syndrome.

OBJECTIVES: Tetralogy of Fallot with absent pulmonary valve syndrome is a rare form of tetralogy of Fallot with dilatation of large pulmonary arteries. Prognosis is related to the severity of the cardiac malformation and to bronchial tree compression by dilated pulmonary arteries. This study analyses the prenatal echographic lung appearance in fetuses with tetralogy of Fallot with absent pulmonary valve and discusses its significance. METHODS: We carried out a retrospective review of fetal and postnatal files of nine fetuses diagnosed with tetralogy of Fallot with absent pulmonary valve syndrome in our institution. Correlations of prenatal ultrasound and cardiac imaging findings were obtained with outcome. RESULTS: Abnormal heterogeneous fetal lung echogenicity was detected in eight cases out of nine, always associated with significant lobar arterial dilatation. This aspect was well correlated with postnatal imaging and outcome in the four neonatal cases. The only fetus with normal lung echogenicity also had lower degree of pulmonary artery dilatation in the series. CONCLUSIONS: This study demonstrates that a heterogeneous ultrasound appearance of the fetal lungs can be detected in utero in the most severe cases. This aspect suggests an already significant compression of the fetal bronchial tree by the dilated arteries that may have prognostic implications.

Importance of anatomical dominance in the evaluation of coronary dilatation in Kawasaki disease.

Introduction In Kawasaki disease, although coronary dilatation is attributed to vasculitis, the effect of myocardial inflammation is underestimated. Coronary dilatations are determined by Z-scores, which do not take into account dominance. The aim of the present study was to describe the impact of coronary dominance on dilatation in Kawasaki disease. METHODS: We performed a retrospective analysis of coronary dilatations according to angiography categorisation of dominance. RESULTS: Of 28 patients (2.6 [0.2-10.1] years), right dominance was present in 15 patients and left in 13. Early dilatation was present in all patients, of whom 11 were ipsilateral to the dominant segment and 17 contralateral. Ipsilateral dilatations were present at diagnosis (9/11 versus 6/17, p=0.02) compared with contralateral dilatations, which developed 2 weeks after diagnosis (9/11 versus 16/17, p=0.29). Coronary artery Z-scores of patients with contralateral dilatation increased at 2 weeks, before returning to baseline values (2.0±2.2 at diagnosis, 4.1±1.8 at 2 weeks, 1.8±1.2 at 3-6 months, p=0.001), compared with patients with ipsilateral dilatation in whom Z-scores were maximal at diagnosis and remained stable (3.0±0.9, 2.7±1.1 and 2.6±1.5, respectively, p=0.13). Dominant coronary artery Z-scores were higher compared with non-dominant segments at diagnosis (3.0±0.9 versus 1.0±0.8, p<0.001) and at late follow-up (2.6±1.5 versus 0.4±1.4, p=0.002) in patients with ipsilateral dilatation. CONCLUSION: Progression of coronary dilatation after diagnosis may be a sign of dilatation secondary to vasculitis, as opposed to regression of Z-scores in ipsilateral dilatations, probably related to physiological vasodilatation in response to carditis. This needs to be validated in larger studies against vasculitic and myocardial inflammatory markers.

Coronary Wall Structural Changes in Patients With Kawasaki Disease: New Insights From Optical Coherence Tomography (OCT).

BACKGROUND: Coronary artery aneurysms (CAA) are serious complications of Kawasaki disease (KD). Optical coherence tomography (OCT) is a high-resolution intracoronary imaging modality that characterizes coronary artery wall structure. The purpose of this work was to describe CAA wall sequelae after KD. METHODS AND RESULTS: KD patients scheduled for routine coronary angiography underwent OCT imaging between March 2013 and August 2014. Subjects' clinical courses, echocardiography, and coronary angiography examinations were reviewed retrospectively. OCT was performed in 18 patients aged 12.4±5.5 years, 9.0±5.1 years following onset of KD. Of those, 14 patients (77.7%) had a history of CAA (7 with giant CAA and 7 with regressed CAA at time of OCT). Intracoronary nitroglycerin was given to all patients (88.4±45.5 µg/m(2)). Mean radiation dose was 10.9±5.2 mGy/kg. One patient suffered from a transitory uneventful vasospasm at the site of a regressed CAA; otherwise no major procedural complications occurred. The most frequent abnormality observed on OCT was intimal hyperplasia (15 patients, 83.3%) seen at both aneurysmal sites and angiographically normal segments amounting to 390.8±166.0 µm for affected segments compared to 61.7±17 µm for unaffected segments (P<0.001). Disappearance of the media, and presence of fibrosis, calcifications, macrophage accumulation, neovascularization, and white thrombi were seen in 72.2%, 77.8%, 27.8%, 44.4%, and 33.3% of patients. CONCLUSIONS: In this study, OCT proved safe and insightful in the setting of KD, with the potential to add diagnostic value in the assessment of coronary abnormalities in KD. The depicted coronary structural changes correspond to histological findings previously described in KD.

Percutaneous angioplasty used to manage native and recurrent coarctation of the aorta in infants younger than 1 year: immediate and midterm results.

Balloon angioplasty (BAP) used to manage native coarctation of the aorta (CoAo) in infants remains controversial. This study aimed to compare short- and midterm results of BAP between native CoAo (NaCo) and postsurgical recoarctations (ReCo) in infants younger than 1 year. This retrospective study compared the clinical, echocardiographic, hemodynamic, and angiographic data for infants who underwent BAP between July 2003 and September 2012. The 12 NaCo and 13 ReCo patients in this study underwent BAP at 4.61 ± 3.69 and 4.88 ± 3.07 months (p = 0.84) and weighed 5.49 ± 2.57 and 6.10 ± 2.11 kg (p = 0.52), respectively. Their respective heights were 60.58 ± 10.58 and 61.15 ± 6.74 cm (p = 0.87). All the ReCo patients had their initial surgery before the age of 3 months. The minimal CoAo diameter was 2.81 ± 0.96 mm in the NaCo group and 2.86 ± 1.0 mm in the ReCo group (p = 0.90). The relative gradient reduction was 62.79 ± 32.43 % in the NaCo group and 73.37 ± 20.78 % in the ReCo group (p = 0.33). The in situ complication rate (pseudoaneurysm) was 8.33 % in the NaCo group and 7.69 % in the ReCo group (p = 0.74). During the early follow-up evaluation, five NaCo patients (41.66 %) presented with recoarctation requiring BAP reintervention within 1.75 ± 1.41 months (all had their initial BAP before 3 months of age) compared with 1 ReCo patient (7.69 %) (p = 0.165). The mean follow-up period was 3.09 ± 2.69 years for the NaCo patients and 3.6 ± 3.18 years for the ReCo patients (p = 0.69), during which the blood pressure gradient was 12.33 ± 9.67 for the NaCo patients and 7.80 ± 8.78 for the ReCo patients (p = 0.17), with corresponding Doppler peak instantaneous gradients of 21.29 ± 11.19 and 16.20 ± 10.23 (p = 0.24). The resultant diameter ratio between the minimal isthmus diameter and the aortic diameter at the diaphragmatic level was 0.81 ± 0.15 in the NaCo group and 0.85 ± 0.12 in the ReCo group (p = 0.53). The immediate and midterm results of BAP for the NaCo and ReCo infants were comparable. Accordingly, BAP seems to be an acceptable alternative to surgery for infants older than 3 months.

Prenatal ultrasound screening of congenital heart disease in the general population: general concepts, guidelines, differential diagnoses.

Congenital heart diseases (CHDs) carry a high prevalence rate in the general population (0.8%-1%). Most fetal CHDs occur in patients without any risk factors. The prenatal recognition of CHD has major impacts on the pregnancy and its outcome. The aforementioned data justify prenatal ultrasound (US) screening of CHD in the general low-risk population. As demonstrated in the literature, the application of an extended basic US cardiac examination improves the detection of CHD, in particular the conotruncal anomalies. The stepwise method suggested for fetal heart US screening during the mid-second trimester sonogram is based on 4 routine axial views of heart and great vessels: (1) a transverse view of the superior abdomen, (2) a 4-chamber view, (3) a 3-vessel view, and (4) a transverse view of the aortic arch. This protocol can be obtained rapidly because these scans are easy to perform. Despite the fact that the sequential segmental approach universally used in the postnatal diagnosis of CHD is not specifically addressed here, the detected anomalies can be categorized according to these views, and a short differential diagnosis proposed. Abnormal cardiac and/or vascular landmarks shown on these key scans should lead to a referral in the fetal cardiac center for a more precise evaluation, as well as for counseling.

Long-term follow-up of large atrial septal occluder (Amplatzer device) with cardiac MRI in a pediatric population.

OBJECTIVE: The purpose of this study is to evaluate the position and the progress of large Amplatzer septal occluder (ASO) devices relevant to adjacent cardiac structures in growing children using MRI. MATERIALS AND METHODS: Institutional review board approval for this study was obtained. Twenty-five children who underwent large ASO implantation were evaluated using MRI. All subjects were initially imaged 7 years earlier using the same protocol. Spatial and dynamic relationships between the ASO and the adjacent cardiac structures were compared to assess the progress over the 7-year growth span with respect to protrusion, contact, and extrinsic deformity of the mitral valve, the left atrial roof, the aortic annulus and root, and the ostia of adjacent veins. RESULTS: No long-term device-related complications were documented during follow-up. Impingement of the ASO into the opening of the right superior and inferior pulmonary veins and the superior and inferior vena cava resolved completely, compared with initial observations, in five of 16, three of three, five of 10, and three of nine patients, respectively, and significantly regressed in the remaining patients. The device's contact with the mitral valve and the left atrial roof and the aortic root deformity resolved in seven of 10, 11 of 20, and 10 of 18 cases, respectively. CONCLUSION: The distance between the ASO and the surrounding structures increases with time in growing children who require large ASO devices, likely decreasing the risk of long-term complications.

Right pulmonary artery torsion following surgical reimplantation.

We report the case of a 3-month-old boy with an anomalous origin of right pulmonary artery (AORPA) from the ascending aorta who presented postoperatively with torsion of the right pulmonary artery demonstrated on 3-D volume-rendered CT angiogram. To our knowledge, CT images of this entity have not been reported. This case illustrates a rare surgical complication that can be easily imaged by CT.

Unilateral absence of pulmonary artery in children: bronchovascular anatomy, natural course and effect of treatment on lung growth.

BACKGROUND: Unilateral absence of pulmonary artery (UAPA) is a rare congenital anomaly with few published studies focusing on anatomy and outcome. OBJECTIVE: To assess the bronchovascular anatomy, lung volume and growth in treated and untreated patients with UAPA. MATERIALS AND METHODS: Eighteen children with UAPA (isolated: n = 12; associated with congenital heart disease: n = 6) were retrospectively studied to assess the vascularization and lung segmentation and to appraise lung volume evolution in treated and untreated patients. Age at presentation: 1 day to 6 years; mean follow-up duration 13.6 years. Reperfusion of the affected pulmonary artery was attempted in 10 children (younger than 6 months: n = 7; older than 6 months: n = 3). RESULTS: Bronchovascular lung segmentation was complete in all cases. In children treated before 6 months of age, lung volume normalized in 3 and remained normal in 3, and hypoplasia progression was noted in 1. Hypoplasia persisted in children treated after 6 months of age. In untreated children, lung hypoplasia was unchanged in cases diagnosed after 7 months of age (n = 4) and progressive in cases diagnosed before 3 months (n = 4). CONCLUSION: In UAPA, lung anatomy and volume are normal at birth. Revascularization of the affected pulmonary artery before 6 months of age seems to allow optimal lung growth and prevent postnatal lung hypoplasia and development of collaterals.

Segmental approach to imaging of congenital heart disease.

The segmental approach, which is widely used in the imaging work-up of congenital heart disease, consists of a three-step evaluation of the cardiac anatomy. In step 1, the visceroatrial situs is determined. Visceroatrial situs refers to the position of the atria in relation to the nearby anatomy (including the stomach, liver, spleen, and bronchi). Three different anatomic configurations may be observed: situs solitus (normal), situs inversus (inverted), or situs ambiguus (ambiguous). In step 2, the left- or rightward orientation of the ventricular loop is evaluated, and the positions of the ventricles are identified on the basis of their internal morphologic features. In step 3, the position of the great vessels is determined first, and any abnormalities are noted. Abnormalities in the origin of the great vessels, or conotruncal anomalies, are predominantly of three types: D-transposition (dextrotransposition), L-transposition (levotransposition), and D-malposition with double outlet right ventricle. Next, the relationships between the atria and ventricles and the ventricles and great vessels are determined at two levels: atrioventricular (concordant, discordant, ambiguous, double inlet, absence of right or left connection) and ventriculoarterial (concordant, discordant, double outlet). Last, a search is performed for any associated abnormalities of the cardiac chambers, septa, outflow tract, and great vessels. By executing these steps sequentially during image review, the radiologist can achieve a more accurate interpretation. Multiplanar reconstructions of cross-sectional image data obtained with computed tomography or magnetic resonance imaging are particularly useful for evaluating congenital heart disease.

Late retrograde perfusion of donor lungs does not decrease the severity of primary graft dysfunction.

BACKGROUND: The ideal preservation strategy has yet to be established in lung transplantation. This clinical study compares primary graft dysfunction using antegrade and retrograde perfusion of donor lungs. METHODS: Over a 6-year period, 153 consecutive patients underwent lung transplantation in our institution. Group I consists of 65 patients who received lungs preserved with an antegrade flush of modified Euro-Collins solution. Group II includes 65 patients who received lungs preserved with an antegrade flush of low-potassium dextran (LPD) solution. Group III consists of 23 patients who received lungs preserved with an antegrade and a preimplantation retrograde flush of LPD solution. Endpoints evaluated were the following: acute lung injury (ALI) score, time to achieve a fraction of inspired oxygen (Fio2) of 40% and a positive end-expiratory pressure (PEEP) of 5, length of ventilation, length of intensive care unit (ICU) stay, 90-day operative mortality, and patient survival rates. RESULTS: The patient demographic data, underlying diagnosis, number of single and double lung transplants, use of cardiopulmonary bypass, and mean ischemic times were similar in all 3 groups. The mean ALI score (6.2, 5.8, and 6.0) and the median length of ventilation (23.5, 24.0, and 27.0 hours) in groups I, II, and III, respectively, were not significantly different. The length of ICU stay, the 90-day operative mortality, and the survival rates were not significantly different in the 3 groups. CONCLUSIONS: Our results suggest that late retrograde perfusion of donor lungs does not decrease the severity of primary graft dysfunction when compared with standard antegrade techniques.