Bicuspid Aortic Valve Function and Aortopathy on Presentation and Progression in Children: Does Sex Difference Have Any Implications?

Bicuspid aortic valve (BAV) is the most common congenital heart defect. It can be accompanied by aortic regurgitation or stenosis with aortopathies. Studies in adults showed a sex difference, but there are limited number of reports in the pediatric population. To evaluate the difference in bicuspid aortic valve morphology and functionality between sexes, and the presence and progression of aortopathies, a retrospective chart review study was performed at a tertiary referral care center in the Midwest. In our study, we analyzed a cohort of 476 pediatric patients diagnosed with BAV who presented between January 2007 and February 2018. During the follow-up period spanning 2 to 10 years, male patients (n = 314, 66%) had larger aortic valve annulus (AVA) and sinus of Valsalva (SOV) at the time of initial presentation with more likelihood for progression. In the subgroup analysis, the larger SOV in males was observed in isolated BAV patients without genetic syndromes or cardiac malformations, and there were no significant differences between both sexes in the ascending aorta dimension, valve functionality, valve morphology, and the need for intervention in any of the studied groups. As such, these findings may alter the follow-up focus and frequency for patients with BAV, particularly before adulthood, and warrant further studies.

Atrioventricular Septal Defects: Pathology, Imaging, and Treatment Options.

PURPOSE OF REVIEW: Atrioventricular septal defects (AVSD) represent a broad spectrum of congenital anomalies from simple to the most complex heart defects including some distinct types. Clinical presentation and timing of intervention differ by morphological subset and functional anatomy. Herein, we review morphological variations and characteristics that determine appropriate intervention and provide insights into functional anatomy based on detailed three-dimensional (3D) assessment of AVSDs. RECENT FINDINGS: The understanding of functional morphology of AVSDs has improved significantly with detailed 3D echocardiographic evaluation of the atrioventricular junction and valve morphology. As prenatal detection of AVSDs has increased significantly, it has become the most common fetal cardiac diagnosis enabling antenatal counseling and delivery planning. Advances in diagnosis and perioperative care have resulted in optimal outcomes. The diagnosis and management of AVSDs have improved over the years with enhanced understanding of anatomy and perioperative care resulting in optimal short and long-term outcomes.

Left Ventricular Pseudoaneurysm Following Surgical Repair of Ventricular Septal Defect in an Infant.

Left ventricular pseudoaneurysm (LV-PSA) is a rare complication following cardiac surgery, let alone in the pediatric population. Other known causes of LV-PSA are trauma, percutaneous cardiac intervention, and infections. This report describes the development of LV-PSA following surgical repair of ventricular septal defect (VSD) and coarctation of aorta (CoA) in an infant.

Determination of the Frequency of Right and Left Internal Mammary Artery Embolization in Single Ventricle Patients: A Two-Center Study.

Embolization of systemic to pulmonary artery collaterals to regulate pulmonary arterial flow or pressure of the cavopulmonary circulation in patients with single ventricle is a common practice. The relative incidence and impact of this practice on future interventions like coronary artery bypass grafting is poorly understood. This study aims to evaluate the frequency and implications of internal mammary artery (IMA) embolization in the single ventricle (SV) population. A retrospective chart review was performed of SV patients who underwent cardiac catheterization before and after Fontan procedure between February 2007 and 2017. Data were collected from two tertiary care centers in the Midwest. Of the 304 SV patients, 62 (20.4%) underwent embolization of one or more IMAs, whereas 242 (79.6%) did not. The rate of embolization of IMA was 40.5% in one center and 14.5% in the second center. Among patients who received IMA embolization, left internal mammary artery (LIMA) embolization was seen in 6 (9.7%) patients. Majority of patients underwent either right internal mammary artery (RIMA) embolization (n = 25; 40.3%) or RIMA and LIMA embolization (n = 27; 43.5%). IMA embolization in SV patients is common. Embolizing IMAs early in life will likely eliminate a valuable graft option for coronary artery bypass grafting should it be required in the future care of these patients. Multi-center, prospective, nation-wide studies are warranted to examine coronary artery disease in the SV population and true frequency of IMA embolization. Delineation of which IMAs were embolized is a necessary in surgical and cardiac intervention national data, such as Society of Thoracic Surgeons (STS) database. All measures should be taken to preserve IMAs patency, if deemed feasible and safe.

The Use of Fecal Calprotectin Levels in the Fontan population.

The Fontan procedure was first performed in the seventies as a palliation for patients with single ventricle physiology. A feared complication after a Fontan procedure is the development of protein losing enteropathy (PLE). Systemic inflammation has a negative effect on the intestinal barrier integrity, which has supported the use of steroids in this setting. To the best of our knowledge there are no studies linking intestinal inflammation in patients with PLE after Fontan. The objective of this study was to identify the presence of intestinal inflammation measured by FC in patients with PLE after a Fontan procedure. A cross-sectional analysis was performed examining 23 stool samples from 23 Fontan patients for both Fecal alpha-1-antitrypsin (FA1AT) and FC with and without PLE. The median FC was 21 mcg/gm of stool (IQR: 15.7-241 mcg/gm of stool), and the median FA1AT was 40 mg/dL (IQR: 30-220 mg/dL). The median FC and FA1AT were significantly higher in the PLE group than in the Non-PLE group (p = 0.002 and p < 0.0001, respectively). Significantly elevated levels of FC were demonstrated in Fontan patients with PLE, which correlated with the elevated levels of FA1AT. Inversely, levels of FC in Fontan patients without suspected PLE were within the normal range. To our knowledge, this is the first study to demonstrate intestinal inflammation using FC in the setting of PLE within this cohort, and may prove to be useful as a diagnostic tool in its treatment.

Transposition of Great Arteries with Complex Coronary Artery Variants: Time-Related Events Following Arterial Switch Operation.

Coronary artery anatomy represents a challenging and, often, determining predictor of outcome in an arterial switch operation (ASO). Impact of specific coronary artery variants, such as single, intramural and inverted, on time-related events following ASO, is, yet, to be determined. We sought to compare early and late outcomes within the group of nonstandard coronary artery variants. Patients who underwent ASO from January 1995 to October 2010 were reviewed. Patients with coronary artery variants other than L1Cx1R2 ("standard" by Leiden classification) were included. Patients with single, intramural and inverted coronary artery variants incorporated in group A. All other nonstandard coronary variants incorporated in group B. Demographics, perioperative variables, early and late outcomes were assessed. Of the 123 ASO, 24 patients (19.5%) with nonstandard coronary variant were studied. Thirteen were in group A and 11 in group B. There were two early deaths (1 in group A and 1 in group B) (p > 0.05). There is one death early after hospital discharge (group A). Mean follow-up was 59.4 ± 55.1 months. There was no structural coronary artery failure after hospital discharge following ASO. Freedom from any reintervention at 8 years was (78.3 ± 9.6%) (p 0.55) with no late neo-aortic or mitral valve intervention. ASO with single, intramural or inverted coronary artery course carries no added longitudinal risk for structural or flow impairment within the group of nonstandard coronary artery variants. There is an early hazard period with no late survival attrition. Aortic arch repair as part of staged strategy prior to ASO might influence early and late outcome.

Surgical repair of left ventricular pseudoaneurysm following perventricular device closure of muscular ventricular septal defect.

Left ventricular pseudoaneurysm formation following perventricular device closure of a muscular ventricular septal defect is a rare complication. We describe a case of left ventricular pseudoaneurysm in an infant with Swiss-cheese ventricular septal defects who initially underwent closure with an Amplatzer device using a hybrid approach. The pseudoaneurysm was successfully resected surgically.

The Use of Speckle Tracking Echocardiography for Early Detection of Myocardial Dysfunction in Patients with Duchenne Muscular Dystrophy.

Cardiac complications are the leading cause of death in patients with Duchenne muscular dystrophy (DMD). Two-dimensional echocardiography is the current standard for monitoring of LV systolic function in these patients, but it might not detect early systolic dysfunction. The current study examined the use of speckle tracking echocardiography (STE) to detect early signs of cardiac dysfunction in DMD patients. A retrospective review of charts and offline strain analysis of transthoracic echocardiographic studies of DMD patients at our institution from April 2014 to January 2015 were performed and compared to age-matched healthy male subjects. Nineteen DMD patients (age range 12.6 ± 3.1 years) with normal ejection fraction and shortening fraction were compared with sixteen controls. The global circumferential strain was lower in DMD patients compared with controls (-14.7 ± 4.7 vs. -23.1 ± 2.9 %, respectively, p value: 0.001). Circumferential strain measured at basal, mid-ventricular and apical parasternal short-axis views was lower in DMD patients compared with controls. Segmental circumferential strain was lower in DMD patients in most segments compared with controls. The global longitudinal strain was lower in DMD patients compared with controls (-13.6 ± 5 vs. -18.8 ± 3 %, respectively, p value: 0.001). Segmental longitudinal strain measured in various segments was lower in DMD patients compared with controls. DMD patients can have occult cardiovascular dysfunction as shown by reduction in circumferential and longitudinal strain measurements with STE despite normal standard echocardiographic parameters. The clinical significance of early detection of cardiac dysfunction in these patients warrants further studies.

Frequency of Mammary Artery Coiling in Single-Ventricle Patients and Future Coronary Artery Grafting.

Pre-Fontan coil closure of aorto-pulmonary collaterals decreases single-ventricle volume load and improves outcome. Coiling of right and left internal mammary arteries may present a challenge to cardiothoracic surgery teams caring for these patients when future coronary artery bypass grafting is needed for SV patients. The goal of this study was to determine the frequency of internal mammary artery coil closure in SV patients in a single tertiary care center. A retrospective review of all pediatric single-ventricle patients who underwent cardiac catheterization between March 2009 and October 2015 at Rush Center for Congenital Heart Disease was performed. Fifty-one patients' charts were reviewed. Twenty-five patients received coil closure of one or more internal mammary artery (coil group) and 26 received no coil closure (no-coil group). In the coil group, 21 (84 %) had their collateral vessels coiled in the pre-Fontan period and 4 (16 %) had their vessels coiled in the post-Fontan period. In the coil group, 18 (72 %) had their right internal mammary artery coiled and 7 (28 %) had both right and left internal mammary arteries coiled. None of the coil group had isolated coil closure of the left internal mammary artery. This study is the first to verify the frequency of right and/or left internal mammary artery coil closure in SV patients and the potential impact on future coronary artery bypass grafting. Extensive peri-Fontan coiling of the internal mammary arteries presents a significant potential challenge for subsequent management of SV patients as older adults.

Extended Application of the Hybrid Procedure in Neonates with Left-Sided Obstructive Lesions in an Evolving Cardiac Program.

The hybrid approach to management of hypoplastic left heart syndrome (HLHS) was developed as an alternative to neonatal Norwood surgery, providing a less invasive initial palliation for HLHS. We describe our experience in extending the concept of the hybrid procedure to palliate neonates with anatomically compromised systemic arterial blood flow in a variety of congenital cardiac anomalies and supporting its application as first-line palliation in centers developing their HLHS programs. Retrospective review of patients undergoing therapy for HLHS at a single institution from June 2008 to December 2014 was performed. Subject demographics, clinical and procedural data, along with follow-up, were collected. Thirteen patients had initial hybrid palliation for HLHS during the time frame indicated at a median age of 8 days (range 1-29 days) and median weight of 3.4 kg (range 2.4-4.6 kg). Diagnoses included typical HLHS (n = 6), right-dominant unbalanced atrioventricular septal defect with arch hypoplasia (n = 4), double outlet right ventricle [subpulmonic VSD (n = 1) and intact ventricular septum (n = 1)] with hypoplastic transverse aortic arch and borderline left ventricular dimensions. Standard approach with bilateral pulmonary artery banding and ductal stenting was carried out in all thirteen patients. Two patients required two ductal stents at the time of index procedure. There were no intraprocedural complications. Median intubation length post-procedure was 4 days (range 1-74 days). Median hospital stay post-procedure was 47 days (range 15-270 days). The overall mortality rate on follow-up through comprehensive stage 2 over the 6-year experience was 38 % (5 out of 13). Of note, the mortality rate was significantly lower in the latter 3 years of the study period when the procedure was adopted as a primary palliation for HLHS (14 % or 1 out of 7) compared to the initial 3-year period when it was reserved for higher risk cohorts (67 % or 4 out of 6). Median time to subsequent surgery was 3 months (range 1-4 months). One patient required further ductal stenting on follow-up and developed subsequently airway compression. On median follow-up of 24 months, two patients required pulmonary artery arterioplasty. The hybrid procedure may be used for palliation for a variety of cardiac lesions to avoid high-risk surgery in the neonatal period. This approach may be also an alternative in centers performing lower number of Norwood surgery, which has been associated with higher mortality.

Metastatic osteosarcoma to the interventricular septum: an unusual presentation in a child.

Whereas primary cardiac tumors are reported in only 0.17 % of pediatric patients, malignant cardiac tumors are even less common in children. This report presents a 10-year-old child with relapsed osteosarcoma manifesting as metastatic lesions to the interventricular septum.

Congenital anomalous chordae tendinae of the mitral valve: an unusual presentation of mitral insufficiency in children.

Anomalous chordae tendinae (CT) originating from mitral valve leaflet is a rare congenital mitral valve anomaly. Our case report is unique as this anomaly is extremely rare in this pediatric age group. The anomalous CT extended from anterior mitral leaflet to the atrial septum (AS). Surgical repair in the form of anomalous CT excision, anterior leaflet chordoplasty, and posterior mitral annuloplasty was successfully performed. Congenital mitral valve (MV) leaflet or chordae anomalies are rare. In anomalous CT from MV leaflet to the AS, the surgical experience is extremely limited and only reported in adults and adolescents. We describe an unusual presentation of severe mitral insufficiency (MR) associated with anomalous CT from the anterior mitral valve leaflet (AMVL) to the AS that prompted successful repair during childhood.