Patient factors and geographic barriers influencing excess time between paediatric and adult CHD care.

INTRODUCTION: Over 90% of children with CHD survive into adulthood and require lifelong cardiology care. Delays in care predispose patients to cardiac complications. We sought to determine the time interval to accessing adult CHD care beyond what was recommended by the referring paediatric cardiologist (excess time) and determine risk factors for prolonged excess time. MATERIALS AND METHODS: Retrospective cohort study including all patients in the province of Alberta, Canada, age 16-18 years at their last paediatric cardiology visit, with moderate or complex lesions. Excess time between paediatric and adult care was defined as the interval (months) between the final paediatric visit and the first adult visit, minus the recommended interval between these appointments. Patients whose first adult CHD appointment occurred earlier than the recommended interval were assigned an excess time of zero. RESULTS: We included 286 patients (66% male, mean age 17.6 years). Mean excess time was 7.9 ± 15.9 months. Twenty-nine (10%) had an excess time > 24 months. Not having a pacemaker (p = 0.03) and not needing cardiac medications at transfer (p = 0.02) were risk factors for excess time >3 months. Excess time was not influenced by CHD complexity. DISCUSSION: The mean delay to first adult CHD appointment was almost 8 months longer than recommended by referring paediatric cardiologists. Not having a pacemaker and not needing cardiac medication(s) were risk factors for excess time > 3 months. Greater outpatient resources are required to accommodate the growing number of adult CHD survivors.

Inflammatory aortic aneurysm in a young patient with ankylosing spondylitis.

Inflammatory conditions are a rare cause of aortic aneurysms, accounting for 3% to 10% of cases. Patients with ankylosing spondylitis uncommonly present with ascending aortic aneurysms related to long-standing, aggressive disease. We review the case of a young man with ankylosing spondylitis exhibiting complex inflammatory aortic aneurysms atypically involving the abdominal and descending thoracic aorta, as well as ectasia of medium-sized visceral vessels. Inflammatory aneurysms require a multidisciplinary approach incorporating diagnostic modalities to confirm etiology, targeted immunosuppressive therapy to control disease activity, and aneurysm repair. Evidence suggests that endovascular approaches should be considered first-line therapy for patients requiring reconstruction when anatomy is appropriate.

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Individuals affected by restrictive cardiomyopathy (RCM) often develop heart failure at young ages resulting in early heart transplantation. Familial forms are mainly caused by mutations in sarcomere proteins and demonstrate a common genetic etiology with other inherited cardiomyopathies. Using next-generation sequencing, we identified two novel missense variants (p.S1624L; p.I2160F) in filamin-C (FLNC), an actin-cross-linking protein mainly expressed in heart and skeletal muscle, segregating in two families with autosomal-dominant RCM. Affected individuals presented with heart failure due to severe diastolic dysfunction requiring heart transplantation in some cases. Histopathology of heart tissue from patients of both families showed cytoplasmic inclusions suggesting protein aggregates, which were filamin-C specific for the p.S1624L by immunohistochemistry. Cytoplasmic aggregates were also observed in transfected myoblast cell lines expressing this mutant filamin-C indicating further evidence for its pathogenicity. Thus, FLNC is a disease gene for autosomal-dominant RCM and broadens the phenotype spectrum of filaminopathies.

Right and Left Atrial Dissimilarities in Normal Subjects Explored by Speckle Tracking Echocardiography.

BACKGROUND: Atrial function is an important contributor of ventricular function and has a prognostic role in various cardiovascular diseases. We tested the hypothesis that right and left atrial (RA & LA) function may not be equal despite their accommodating identical cardiac output. METHODS: Two-dimensional (2D) speckle tracking echocardiography was acquired from the apical four-chamber view in 100 normal subjects. Both RA/LA subendocardial borders were traced to obtain atrial volumes, strain (ε) and strain rate (SR). Reservoir, conduit, and booster pump functions were evaluated. Consequently, εNeg (corresponding to pump function) and εPos (corresponding to conduit function) were gauged. The SR parameters (SRLateNeg, SRPos, and SREarlyNeg), corresponding respectively to atrial systole, inception of ventricular systole, and inception of ventricular diastole, were measured. RESULTS: Mean age was 39 ± 15 years with 50 men (50%). Volumetric indices revealed that reservoir (Filling Volume = 35.1 ± 10.4 mL for LA vs. 27.47 ± 11.93 mL for RA, expansion index = 52.18 ± 16.89% for LA vs. 45.03 ± 16.49% for RA and diastolic emptying index = 52.85 ± 16.85 for LA vs. 45.62 ± 16.5 for RA, P < 0.001) and conduit (passive emptying (%) of total emptying = 34.49 ± 10.4 for LA vs. 26.82 ± 11.98 for RA and passive emptying index = 52.63 ± 16.86 for LA vs. 45.39 ± 16.5 for RA, P < 0.001) functions were significantly higher in the LA compared to the RA. Nevertheless, deformation indices demonstrated an opposite pattern (SRpos = 1.88 ± 0.74 for RA vs. 1.56 ± 0.54 for LA, P = 0.03 and εPos = 59.56 ± 30.63 for RA vs. 45.94 ± 16.67 for LA, P < 0.001). Reservoir, conduit, and booster pump functions showed no statistical significance among both genders. CONCLUSIONS: Evaluation of global and regional RA/LA function by speckle tracking echocardiography is feasible. The current report provides insights regarding dissimilarities between both atria in healthy individuals. The significance of these findings and their potential application will warrant further work.

Mitral valve surgery for marantic endocarditis and multiple cerebral embolisation.

Valvular involvement is common in antiphospholipid syndrome (APS) with increased risk of thrombo-embolic events. We report a patient with APS and multiple cerebral infarcts. Echocardiography demonstrated verrucous vegetations of the mitral valve in keeping with marantic endocarditis. The patient underwent successful mitral valve replacement. Post-operative clinical and echocardiographic follow-up showed excellent short term results.

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.

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.

Caring for the Aging Patient With Adult Congenital Heart Disease: A Review of Cardiac and Noncardiac Comorbidities.

As the demographics of congenital heart disease (CHD) have shifted, there are now more adults living with CHD than children in North America. This presents unprecedented challenges as patients with CHD acquire noncardiac comorbidities and seek care for a variety of reasons, including noncardiac surgery and emergency department (ED) visits. CHD shifts from a one organ problem to a multisystem disease and requires a team of specialists to maintain high-quality longitudinal care. In this review, we summarize the challenges patients with CHD and their providers face as they age. We review the demographics of CHD and health care utilization. We examine the rates of noncardiac comorbidities and the current quality of care received by adult patients with CHD.

Les caractéristiques démographiques des patients atteints d'une cardiopathie congénitale ont changé : à l'heure actuelle, en Amérique du Nord, il y a plus d'adultes qui présentent une cardiopathie congénitale que d'enfants. Cela représente un défi sans précédent lorsque ces patients ont des troubles concomitants non cardiaques et doivent subir une chirurgie non cardiaque, par exemple, ou se rendre aux urgences pour toutes sortes de raisons. On ne parle alors plus de l'atteinte d'un seul organe, mais bien d'une maladie multisystémique. Une équipe pluridisciplinaire sera nécessaire pour maintenir des soins longitudinaux de haute qualité.Dans notre article, nous faisons le point sur les défis que les personnes atteintes d'une cardiopathie congénitale et les dispensateurs de soins doivent affronter à mesure que le patient avance en âge. Nous passons en revue les données démographiques sur les cardiopathies congénitales ainsi que celles sur l'utilisation des services de santé. Nous examinons la fréquence des comorbidités non cardiaques, tout comme la qualité des soins que reçoivent actuellement les patients atteints d'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.

Q fever endocarditis: a case report and review of the literature.

The case of a 31-year-old man from Alberta diagnosed with Q fever endocarditis is presented. To the authors' knowledge, this is the first case of Q fever endocarditis diagnosed in the province of Alberta. The patient had undergone open valvulotomy for congenital aortic stenosis as an infant. He presented with congestive heart failure secondary to severe aortic regurgitation and underwent mechanical aortic valve replacement. Early failure of the mechanical prosthesis and numerous laboratory abnormalities prompted an investigation for endocarditis, which was initially negative. Markedly positive serology eventually established the diagnosis of chronic Q fever. The patient subsequently underwent a second aortic valve replacement following initiation of appropriate antimicrobials directed against Coxiella burnetii. The present report reviews the clinical presentation and diagnosis of Q fever endocarditis. It highlights the insidious and nonspecific nature of the presenting symptoms, and emphasizes the use of serology for diagnosis. Increased awareness and earlier diagnosis can significantly decrease the morbidity and mortality associated with this disease.

A Practical Guide to Clinical Management of Thoracic Aortic Disease.

Physicians and surgeons faced with patients with thoracic aortic disease (TAD) need to determine the underlying diagnosis to facilitate decisions regarding appropriate investigations as well as which other specialists to involve, when to start medical therapy, when to refer for surgery, and how to plan follow-up and family screening. Increased understanding of conditions predisposing to thoracic aortic aneurysm (TAA) provides the opportunity for more personalized care. However, given advances in the genetics of TAD, clinicians are now faced with an expanded and often confusing list of associated differential diagnoses. We present a practical guide to managing patients with TAD based on current knowledge and guidelines. Important "flags" on history taking and "tips" to diagnosis on physical examination along with what investigations to order and what referrals to request are discussed. Need for medical therapy, indications for surgical repair, and planning long-term follow-up of TAD are determined by age, the underlying TAD diagnosis, previous vascular history in the patient or other family members (or both), aortic dimensions and growth rate, and any coexisting cardiovascular disease. Although medications may slow the progression of TAA, effective aortic surveillance and timely elective surgical repair remain the mainstays of prevention of acute aortic complications. Emergent repair of acute aortic dissection carries a far worse prognosis. Taking a practical approach to the management of TAD allows for standardized assessment and implementation of current best practice clinical guidelines. Ongoing discovery of new genes, better medical therapies, and innovative surgical techniques necessitate constantly adapting knowledge and integrating it into everyday clinical practice.

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.

Best practices for cardiovascular disease prevention in rheumatoid arthritis: a systematic review of guideline recommendations and quality indicators.

OBJECTIVE: Cardiovascular disease (CVD) is a leading cause of mortality in rheumatoid arthritis (RA). This study systematically reviewed and appraised guidelines and quality indicators (QIs) pertaining to CVD risk management in patients with RA. METHODS: Four electronic medical databases (Medline, Embase, CINAHL, and Web of Science) and gray literature publications were searched using terms and keywords pertaining to guidelines, QIs, RA, and CVD (RA and general population literature searched). Abstracts were screened for inclusion and rated using the Appraisal of Guidelines for Research and Evaluation II instrument independently by 2 of 3 reviewers. RESULTS: In total, 16,064 abstracts were screened and 808 underwent full-text review. A total of 17 guidelines and 3 QI sets published between 2008 and 2013 were included. A number of consistent themes emerged, including the increased CV risk faced by RA patients and the need to address modifiable risk factors on a regular basis. The role of the multidisciplinary team in risk optimization was also highlighted. Ten guidelines provided recommendations for CVD prevention in patients with RA. Unfortunately, most recommendations lacked the specificity required to determine adherence to the recommendation. Only 4 RA-specific CVD QIs were identified (1 general comorbidity screening, formal CVD risk estimation, exercise, and minimizing steroid use). CONCLUSION: Regular screening for CVD risk factors is an important part of care in patients with RA. Unfortunately, existing RA-specific CVD QIs do not adequately address risk factor management, and existing guideline recommendations lack specificity for measurement and use in quality improvement initiatives.

Development of Cardiovascular Quality Indicators for Rheumatoid Arthritis: Results from an International Expert Panel Using a Novel Online Process.

OBJECTIVE: Patients with rheumatoid arthritis (RA) have a high risk of premature cardiovascular disease (CVD). We developed CVD quality indicators (QI) for screening and use in rheumatology clinics. METHODS: A systematic review was conducted of the literature on CVD risk reduction in RA and the general population. Based on the best practices identified from this review, a draft set of 12 candidate QI were presented to a Canadian panel of rheumatologists and cardiologists (n = 6) from 3 academic centers to achieve consensus on the QI specifications. The resulting 11 QI were then evaluated by an online modified-Delphi panel of multidisciplinary health professionals and patients (n = 43) to determine their relevance, validity, and feasibility in 3 rounds of online voting and threaded discussion using a modified RAND/University of California, Los Angeles Appropriateness Methodology. RESULTS: Response rates for the online panel were 86%. All 11 QI were rated as highly relevant, valid, and feasible (median rating ≥ 7 on a 1-9 scale), with no significant disagreement. The final QI set addresses the following themes: communication to primary care about increased CV risk in RA; CV risk assessment; defining smoking status and providing cessation counseling; screening and addressing hypertension, dyslipidemia, and diabetes; exercise recommendations; body mass index screening and lifestyle counseling; minimizing corticosteroid use; and communicating to patients at high risk of CVD about the risks/benefits of nonsteroidal antiinflammatory drugs. CONCLUSION: Eleven QI for CVD care in patients with RA have been developed and are rated as highly relevant, valid, and feasible by an international multidisciplinary panel.

Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.

BACKGROUND: The genetics of congenital heart disease (CHD) remain incompletely understood. Exome sequencing has been successfully used to identify disease-causing mutations in familial disorders in which candidate gene analyses and linkage mapping have failed. METHODS: We studied a large family characterized by autosomal dominant isolated secundum atrial septal defect (ASD) (MIM No. 612794). Candidate gene resequencing and linkage analysis were uninformative. RESULTS: Whole-exome sequencing of 2 affected family members identified 44 rare shared variants, including a nonsynonymous mutation (c.532A>T, p.M178L, NM_005159.4) in alpha-cardiac actin (ACTC1). This mutation was absent from 1834 internal controls as well as from the 1000 Genomes and the Exome Sequencing Project (ESP) databases, but predictions regarding its effect on protein function were divergent. However, p.M178L was the only rare mutation segregating with disease in our family. CONCLUSIONS: Our results provide further evidence supporting a causative role for ACTC1 mutations in ASD. Massively parallel sequencing of the exome allows for the detection of novel rare variants causing CHD without the limitations of a candidate gene approach. When mutation prediction algorithms are not helpful, studies of familial disease can help distinguish rare pathologic mutations from benign variants. Consideration of the family history can lead to genetic insights into CHD.

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.

Management of adults with congenital heart disease using videoconferencing across Western Canada: a 3-year experience.

BACKGROUND: Management of adults with congenital heart disease (ACHD) requires quaternary centres with cardiologists and cardiac surgeons who have expertise in the diagnosis and management of this patient population. We report on the feasibility of the management of ACHD patients using videoconferencing and streaming through 1 regional referral centre covering 4 western Canadian provinces, roughly 30% of Canada's land and population. METHODS: Videoconferencing sessions from January 2008 to December 2010 were systematically reviewed. Case presentations were classified as successful or unsuccessful. All patients were followed to assess whether the recommendations were acted upon. The hosting institution used the Alberta Health Services internet protocol network, while other connections used integrated service digital network. The videoconference equipment at the different sites includes Polycom HDX 9000 (Polycom, San Jose, CA), Tandberg Edge 95 (Tandberg, San Jose, CA), and Tandberg 990 (Tandberg). RESULTS: From January 2008 to December 2010 there were 26 sessions, 213 case presentations, and 177 patients discussed with an average 8.2 case presentations per session. Thirty-two case presentations were deferred, 10 of which were because of transmission errors and the remainder were because of unavailability of staff or images. Of the 177 recommendations, 124 procedures (91 surgical, 29 percutaneous, and 4 electrophysiological) were booked directly at the regional referral centre. Only 6 recommendations were not carried out (4 because of premature deaths, and 2 because of patient logistic issues). CONCLUSIONS: The results of this study illustrate that telehealth is a feasible medium for arriving at consensus recommendation in the management of ACHD patients living in a geographically diverse area.