Determining Research Priorities With Teen and Adult Congenital Heart Disease Patients: A Mixed-Methods Study.

Background: Children with congenital heart disease (CHD) are living longer than ever before. This growing cohort of adults with CHD has high medical and psychosocial needs. Also, patients and advocacy groups are justifiably demanding that their voices be heard in all phases of clinical and health services research. Methods: We conducted a first of its kind research priority-setting exercise with teens and adults with moderate-to-complex CHD. Focus groups were held using a fixed, mixed methods, exploratory sequential design. Objectives were to include the patient voice in all phases of the research process, determine the key needs of patients living with CHD, to guide health services research, and identify the "top 10" research priorities of teens and adults living with CHD. Results: Thirty-five patients participated in one of nine 3-hour focus groups where they shared their experiences living with CHD. They expressed a desire for connection with others living with CHD and altruistic motives for participating. Patients with CHD identified a need for information about their disease and prognosis, a need for connection through physical activity and mentorship programmes, and a need for advanced communication with health care teams. Qualitative results correlated well with quantitative ratings to create a patient-derived "top 10" research priorities list. Conclusions: Patients affected by a chronic disease like CHD want to be included in all phases of research. Our research priority-setting exercise in teens and adults with CHD has created a roadmap for clinicians and researchers to investigate issues most important to those living with CHD.

Contexte: Les enfants atteints d'une cardiopathie congénitale vivent plus longtemps que jamais auparavant. Cette cohorte croissante est composée d'adultes atteints de cardiopathie congénitale qui ont des besoins médicaux et psychosociaux importants. Par ailleurs, les patients et les groupes de revendication exigent à juste titre de faire entendre leurs voix lors de toutes les phases des recherches cliniques et de celles sur les services de santé. Méthodologie: Nous avons mené un exercice novateur sur l'établissement des priorités de recherche chez des adolescents et des adultes atteints de cardiopathie congénitale modérée ou complexe. Nous avons organisé des groupes de concertation selon un plan fixe, séquentiel, exploratoire, à méthodes mixtes. Les objectifs étaient de permettre aux patients de se faire entendre lors de toutes les étapes du processus de recherche, de déterminer les besoins clés des patients atteints de cardiopathie congénitale pour orienter les recherches sur les services de santé et d'identifier les 10 principales priorités de recherche chez les adolescents et les adultes atteints de cardiopathie congénitale. Résultats: L'exercice a porté sur 35 patients qui ont participé à l'un des neuf groupes de concertation de trois heures, au cours desquels ils ont fait part de leurs expériences de vie avec une cardiopathie congénitale. Les participants ont indiqué qu'ils souhaitaient former des liens avec d'autres personnes atteintes d'une cardiopathie congénitale et ont donné des motifs altruistes pour participer. Les patients ont reconnu la nécessité d'être informé au sujet de leur maladie et de leur pronostic, de former des liens par le biais de l'activité physique et de programmes de mentorat et de communiquer plus avec les équipes soignantes. Il existe une corrélation étroite entre les résultats qualitatifs et les évaluations quantitatives, ce qui a permis d'établir une liste des 10 principales priorités de recherche des patients. Conclusions: Les patients qui sont aux prises avec une maladie chronique comme la cardiopathie congénitale souhaitent être inclus dans toutes les phases des travaux de recherche. Par ailleurs, l'exercice sur l'établissement des priorités de recherche que nous avons effectué chez les adolescents et les adultes atteints d'une cardiopathie congénitale a permis de créer une feuille de route pour les cliniciens et les chercheurs. En effet, ce plan leur permettra d'étudier les questions les plus importantes pour les personnes qui vivent avec une cardiopathie congénitale.

Non-invasive Investigations for the Diagnosis of Fontan-Associated Liver Disease in Pediatric and Adult Fontan Patients.

Fontan-associated liver disease (FALD) is a serious complication related to the chronically elevated venous pressure and low cardiac output of this abnormal circulation. However, diagnostic markers for this condition are limited. We hypothesized that specific tests for fibrosis developed for other chronic liver diseases would identify a higher prevalence of FALD than ultrasound and standard laboratory tests and that identified abnormalities would correlate with time post-Fontan. In this cross-sectional study, we assessed 19 children (average age 8.4 ± 4.3 and 5.4 ± 4.1 years post-Fontan) and 8 adults (average age 31.5 ± 8.9 and 21.1 ± 4 years post-Fontan) using standard serum laboratory investigations assessing hepatic integrity and function, the FibroTest, liver ultrasound, and transient elastography (FibroScan). In adult Fontan patients, hemoglobin, C-reactive protein, and gamma-glutamyl transpeptidase were significantly increased, and white blood cell and platelet counts were significantly decreased in comparison to the pediatric cohort. International normalized ratio was mildly elevated in both children and adults. FibroTest results were suggestive of fibrosis regardless of time post-Fontan. FibroScan measurements were significantly correlated with time post-Fontan, but the incidence of ultrasound-detected liver abnormalities was variable. No cases of hepatocellular carcinoma were identified. Abnormalities suggestive of FALD occur in both children and adults post-Fontan. Select laboratory tests, and possibly ultrasound and FibroScan in some patients, appear to have the most promise for the non-invasive detection of FALD.

Echocardiographic Image Quality Deteriorates with Age in Children and Young Adults with Duchenne Muscular Dystrophy.

BACKGROUND: Advances in medical care for patients with Duchenne muscular dystrophy (DMD) have resulted in improved survival and an increased prevalence of cardiomyopathy. Serial echocardiographic surveillance is recommended to detect early cardiac dysfunction and initiate medical therapy. Clinical anecdote suggests that echocardiographic quality diminishes over time, impeding accurate assessment of left ventricular systolic function. Furthermore, evidence-based guidelines for the use of cardiac imaging in DMD, including cardiac magnetic resonance imaging (CMR), are limited. The objective of our single-center, retrospective study was to quantify the deterioration in echocardiographic image quality with increasing patient age and identify an age at which CMR should be considered. METHODS: We retrospectively reviewed and graded the image quality of serial echocardiograms obtained in young patients with DMD. The quality of 16 left ventricular segments in two echocardiographic views was visually graded using a binary scoring system. An endocardial border delineation percentage (EBDP) score was calculated by dividing the number of segments with adequate endocardial delineation in each imaging window by the total number of segments present in that window and multiplying by 100. Linear regression analysis was performed to model the relationship between the EBDP scores and patient age. RESULTS: Fifty-five echocardiograms from 13 patients (mean age 11.6 years, range 3.6-19.9) were systematically reviewed. By 13 years of age, 50% of the echocardiograms were classified as suboptimal with ≥30% of segments inadequately visualized, and by 15 years of age, 78% of studies were suboptimal. Linear regression analysis revealed a negative correlation between patient age and EBDP score (r = -2.49, 95% confidence intervals -4.73, -0.25; p = 0.032), with the score decreasing by 2.5% for each 1 year increase in age. CONCLUSION: Echocardiographic image quality declines with increasing age in DMD. Alternate imaging modalities may play a role in cases of poor echocardiographic image quality.

Evaluation of single right atrial volume and function with magnetic resonance imaging in children with hypoplastic left heart.

BACKGROUND: Standardized methods to evaluate atrial properties in single ventricles are lacking. OBJECTIVE: To determine the feasibility of quantifying right atrial volumes and function in hypoplastic left heart using MRI. MATERIALS AND METHODS: We studied 15 infants with hypoplastic left heart prior to Glenn surgery (mean age 4.2 months [standard deviation 0.3]) who underwent cardiac MRI with evaluation of atrial volumes and emptying fraction using monoplane two-chamber, monoplane four-chamber, and biplane methods, all of which were compared to the atrial short-axial oblique stack method. We compared atrial end-diastolic volume, end-systolic volume and emptying fraction among these methods. We analyzed reproducibility of the methods using Bland‒Altman plots. RESULTS: Both four-chamber and biplane methods showed high correlations for atrial end-diastolic volume (r = 0.7 and r = 0.8, respectively; P < 0.01) and end-systolic volume (r = 0.8 and r = 0.9, respectively; P < 0.01) with small mean differences (-0.2 ± 2.9 standard deviation [SD] ml and -0.8 ± 1.6 ml, respectively, for atrial end-diastolic volume and -0.8 ± 1.5 ml and -0.9 ± 0.9 ml, respectively, for atrial end-systolic volume). The short-axial oblique method was the most reproducible, followed by the four-chamber method. CONCLUSION: MRI assessment of atrial volume and function is feasible in hypoplastic left heart and might provide further insight into single-ventricle mechanics.

Double chambered right ventricle with ventricular septal defect in adults: case series and review of the literature.

Double-chambered right ventricle (DCRV) is an uncommon congenital anomaly in which anomalous muscle bands divide the right ventricle into two chambers; a proximal high-pressure and distal low-pressure chamber. It may be associated with mid right ventricular obstruction. It is commonly associated with other congenital anomalies, most frequently perimembranous ventricular septal defect (PM-VSD). We herein present 5 adult patients with concomitant DCRV and PM-VSD who varied in their symptomatic presentations and the ways of management.

High-resolution 3-dimensional late gadolinium enhancement scar imaging in surgically corrected Tetralogy of Fallot: clinical feasibility of volumetric quantification and visualization.

BACKGROUND: The extent of surgical scarring in Tetralogy of Fallot (TOF) may be a marker of adverse outcomes and provide substrate for ventricular arrhythmia. In this study we evaluate the feasibility of high resolution three dimensional (3D) late gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR) for volumetric scar quantification in patients with surgically corrected TOF. METHODS: Fifteen consecutive patients underwent 3D LGE imaging with 3 Tesla CMR using a whole-heart, respiratory-navigated technique. A novel, signal-histogram based segmentation technique was tested for the quantification and modeling of surgical scar. Total scar volume was compared to the gold standard manual expert segmentation. The feasibility of segmented scar fusion to matched coronary CMR data for volumetric display was explored. RESULTS: Image quality sufficient for 3D scar segmentation was acquired in fourteen patients. Mean patient age was 32.2 ± 11.9 years (range 21 to 57 years) with mean right ventricle (RV) ejection fraction (EF) of 53.9 ± 9.2% and mean RV end diastolic volume of 117.0 ± 41.5 mL/m². The mean total scar volume was 11.1 ± 8.2 mL using semi-automated 3D segmentation with excellent correlation to manual expert segmentation (r = 0.99, bias = 0.89 mL, 95% CI -1.66 to 3.44). The mean segmentation time was significantly reduced using the novel semi-automated segmentation technique (10.1 ± 2.6 versus 45.8 ± 12.6 minutes). Excellent intra-observer and good inter-observer reproducibility was observed. CONCLUSION: 3D high resolution LGE imaging with semi-automated scar segmentation is clinically feasible among patients with surgically corrected TOF and shows excellent accuracy and reproducibility. This approach may offer a valuable clinical tool for risk prediction and procedural planning among this growing population.

Rationale and design of the Canadian Outcomes Registry Late After Tetralogy of Fallot Repair: the CORRELATE study.

BACKGROUND: Chronic hemodynamically relevant pulmonary regurgitation (PR) resulting in important right ventricular dilation and ventricular dysfunction is commonly seen after tetralogy of Fallot (TOF) repair. Late adverse clinical outcomes, including exercise intolerance, arrhythmias, heart failure and/or death accelerate in the third decade of life and are cause for considerable concern. Timing of pulmonary valve replacement (PVR) to address chronic PR is controversial, particularly in asymptomatic individuals, and effect of PVR on clinical measures has not been determined. METHODS: Canadian Outcomes Registry Late After Tetralogy of Fallot Repair (CORRELATE) is a prospective, multicentre, Canada-wide cohort study. Candidates will be included if they are ≥ 12 years of age, have had surgically repaired TOF resulting in moderate or severe PR, and are able to undergo cardiovascular magnetic resonance imaging. Enrollment of > 1000 individuals from 15 participating centres (Toronto, Montreal, Quebec City, Sherbrooke, Halifax, Calgary, Edmonton, and Vancouver) is anticipated. Clinical data, health-related quality of life metrics, and adverse outcomes will be entered into a web-based database. A central core lab will analyze all cardiovascular magnetic resonance studies (PR severity, right ventricular volumes, and ventricular function). Major adverse outcomes (sustained ventricular tachycardia and cardiovascular cause of death) will be centrally adjudicated. RESULTS: To the best of our knowledge, CORRELATE will be the first prospective pan-Canadian cohort study of congenital heart disease in children and adults. CONCLUSIONS: CORRELATE will uniquely link clinical, imaging, and functional data in those with repaired TOF and important PR, thereby enabling critical evaluation of clinically relevant outcomes in those managed conservatively compared with those referred for PVR.

Atrial shunts: presentation, investigation, and management, including recent advances in magnetic resonance imaging.

Atrial shunts are a common finding in both paediatric and adult populations. Recent developments in advanced imaging have widened the options for diagnosis and evaluation of such shunts. This paper reviews the various types of interatrial communications, discusses the features of clinical presentation in adults and children, and provides an overview of the clinical assessment including physical examination, electrocardiography, echocardiography, cardiac catheterisation, computed tomography, and magnetic resonance imaging. Focus will be placed on recent developments in magnetic resonance imaging that may improve the non-invasive evaluation of atrial shunts.

Which cardiovascular magnetic resonance planes and sequences provide accurate measurements of branch pulmonary artery size in children with right ventricular outflow tract obstruction?

Children with right ventricular outflow tract obstructive (RVOTO) lesions require precise quantification of pulmonary artery (PA) size for proper management of branch PA stenosis. We aimed to determine which cardiovascular magnetic resonance (CMR) sequences and planes correlated best with cardiac catheterization and surgical measurements of branch PA size. Fifty-five children with RVOTO lesions and biventricular circulation underwent CMR prior to; either cardiac catheterization (n = 30) or surgery (n = 25) within a 6 month time frame. CMR sequences included axial black blood, axial, coronal oblique and sagittal oblique cine balanced steady-state free precession (bSSFP), and contrast-enhanced magnetic resonance angiography (MRA) with multiplanar reformatting in axial, coronal oblique, sagittal oblique, and cross-sectional planes. Maximal branch PA and stenosis (if present) diameter were measured. Comparisons of PA size on CMR were made to reference methods: (1) catheterization measurements performed in the anteroposterior plane at maximal expansion, and (2) surgical measurement obtained from a maximal diameter sound which could pass through the lumen. The mean differences (Δ) and intra class correlation (ICC) were used to determine agreement between different modalities. CMR branch PA measurements were compared to the corresponding cardiac catheterization measurements in 30 children (7.6 ± 5.6 years). Reformatted MRA showed better agreement for branch PA measurement (ICC > 0.8) than black blood (ICC 0.4-0.6) and cine sequences (ICC 0.6-0.8). Coronal oblique MRA and maximal cross sectional MRA provided the best correlation of right PA (RPA) size with ICC of 0.9 (Δ -0.1 ± 2.1 mm and Δ 0.5 ± 2.1 mm). Maximal cross sectional MRA and sagittal oblique MRA provided the best correlate of left PA (LPA) size (Δ 0.1 ± 2.4 and Δ -0.7 ± 2.4 mm). For stenoses, the best correlations were from coronal oblique MRA of right pulmonary artery (RPA) (Δ -0.2 ± 0.8 mm, ICC 0.9) and sagittal oblique MRA of left pulmonary artery (LPA) (Δ 0.2 ± 1.1 mm, ICC 0.9). CMR PA measurements were compared to surgical measurements in 25 children (5.4 ± 4.8 years). All MRI sequences demonstrated good agreement (ICC > 0.8) with the best (ICC 0.9) from axial cine bSSFP for both RPA and LPA. Maximal cross sectional and angulated oblique reformatted MRA provide the best correlation to catheterization for measurement of branch PA's and stenosis diameter. This is likely due to similar angiographic methods based on reformatting techniques that transect the central axis of the arteries. Axial cine bSSFP CMR was the best surgically measured correlate of PA branch size due to this being a measure of stretched diameter. Knowledge of these differences provides more precise PA measurements and may aid catheter or surgical interventions for RVOTO lesions.

Magnetic resonance imaging of a restrictive atrial septal defect in a univentricular connection.

Magnetic resonance imaging (MRI) provides accurate and valuable information regarding cardiac shunts including their location, size, and flow. We describe the MRI findings of a restrictive atrial septal defect within a complex case of congenital heart disease: univentricular atrioventricular connection of left ventricular type with right-sided discordant atrioventricular connection (single), absent left atrioventricular connection, and ventriculoarterial discordance. Few similar cases are reported in the literature. Magnetic resonance imaging may add valuable information regarding restrictive atrial shunts in univentricular hearts.

Unexpected sequel of chronic Q-fever endocarditis.

We report a patient with chronic Q-fever endocarditis who was treated with Bentall procedure on two occasions due to persistent endocarditis. A chronic pseudoaneurysm of the aortic root was discovered incidentally by cardiac magnetic resonance and computed tomography eight years post-operatively. Due to chronicity of the pseudoaneurysm and great risk of re-intervention, conservative management was recommended.

Patent ductus arteriosus with Eisenmenger syndrome.

Herein we report a 21 year-old woman with a previously documented patent ductus arteriosus and Eisenmenger physiology. She presented with increasing cyanosis and exercise intolerance which could be explained by a new finding of right to left shunting through an interatrial communication. She was started on Bosentan therapy aiming to reduce the pulmonary pressure with consideration for heart-lung transplantation should any further deterioration occur.

Unforeseen cardiac involvement in McArdle's disease.

McArdle's disease (glycogen storage disease type V) is a rare autosomal recessive metabolic myopathy due to myophosphorylase deficiency. It classically manifests by exercise intolerance, leg cramps, muscle pain and occasionally exercise induced myoglobinuria. The onset of exercise intolerance is typically in the second or third decades of life. It has a specific predilection to skeletal muscle involvement, yet cardiac muscle involvement is very rare. This report describes an unusual case of a 33 year-old man with known McArdle's disease who presented with an incidental finding of severe obstructive hypertrophic cardiomyopathy.