Adult Congenital Heart Disease Cardiologists Research Articles

Current approach to genetic testing and genetic evaluation referrals for adults with congenital heart disease.

Congenital heart disease (CHD) is the most common congenital anomaly. Up to 33% have an identifiable genetic etiology. Improved medical and surgical management of CHD has translated into longer life expectancy and a rapidly growing population of adults living with CHD. The adult CHD (ACHD) population did not have access during childhood to the genetic technologies available today and therefore have not had a robust genetic evaluation that is currently recommended for infants with CHD. Given this potential benefit; the aims of this study were to determine how ACHD cardiologists offer genetics services to patients and identify the indications that influence decision-making for genetics care. We performed a descriptive cross-sectional study of ACHD cardiologists. A study-developed questionnaire was distributed via emailed REDCap link. The recruitment email was sent to 104 potential respondents. The survey was open from 06/2022 to 01/2023. Thirty-five cardiologists participated in the study (response rate of 34%). Most cardiologists identified as white (77%) and male (66%). Cardiologists were more likely to refer patients to genetics (91%) than to order testing themselves (57%). Of the testing ordered, chromosomal testing (55%) was ordered more than gene sequencing (14%). Most cardiologists would refer a patient with a conotruncal lesion (interrupted aortic arch) over other indications for a genetics evaluation. There were more reported barriers to ordering genetic testing (66%) compared to referring to genetics for a genetics evaluation (23%). Cardiologists were more confident recognizing features suggestive of a genetic syndrome than ordering the correct test (p = 0.001). Regarding associations between clinical factors and current practices, more years in practice trended towards less referrals and testing. Evaluating a greater number of patients (p = 0.11) and greater confidence recognizing syndromic features (p = 0.12) and ordering the correct test (p = 0.09) were all associated with ordering more testing. Testing for microdeletion syndromes is being offered and completed in the ACHD population, however testing for single-gene disorders associated with CHD is being under-utilized. Developing guidelines for genetic testing in adults with CHD could increase access to genetic services, impact medical management, reduce uncertainty regarding prognosis, and inform recurrence risk estimates.

Adult congenital heart disease training in Europe: current status, disparities and potential solutions

ObjectivesThis study aimed to determine the status of training of adult congenital heart disease (ACHD) cardiologists in Europe.MethodsA questionnaire was sent to ACHD cardiologists from 34 European countries.ResultsRepresentatives from 31...

Adult Congenital Heart Disease Care in Canada: Has Quality of Care Improved in the Last Decade?

BackgroundPatients with adult congenital heart disease (ACHD) are at increased risk of comorbidity and death compared with the age-matched population. Specialized care is shown to improve survival. The purpose of this study was to analyze current measures of quality of care in Canada compared with those published by our group in 2012. MethodsA survey focusing on structure and process measures of care quality in 2020 was sent to 15 ACHD centres registered with the Canadian Adult Congenital Heart Network. For each domain of quality, comparisons were made with those published in 2012. ResultsIn Canada, 36,708 patients with ACHD received specialized care between 2019 and 2020. Ninety-five cardiologists were affiliated with ACHD centres. The median number of patients per ACHD clinic was 2000 (interquartile range [IQR]: 1050, 2875). Compared with the 2012 results, this represents a 68% increase in patients with ACHD but only a 19% increase in ACHD cardiologists. Compared with 2012, all procedural volumes increased with cardiac surgeries, increasing by 12% and percutaneous intervention by 22%. Wait time for nonurgent consults and interventions all exceeded national recommendations by an average of 7 months and had increased compared with 2012 by an additional 2 months. Variability in resources were noted across provincial regions. ConclusionsOver the past 10 years, ACHD care gaps have persisted, and personnel and infrastructure have not kept pace with estimates of ACHD population growth. Strategies are needed to improve and reduce disparity in ACHD care relative to training, staffing, and access to improved care for Canadians with ACHD.

Anesthetic Management in Parturients With Fontan Physiology

Anesthetic Management in Parturients With Fontan Physiology

Consultant staffing in UK congenital cardiac services: a 10-year survey of leavers and joiners

ObjectivesTo report the numbers of consultant congenital cardiac surgeons and cardiologists who have joined and left UK practice over the last 10 years and explore the reasons for leaving.MethodsRetrospective observational...

Characteristics of patients with adult congenital heart disease treated by non-specialized doctors: The potential loss of follow-up

BackgroundIn the treatment of adult congenital heart disease (ACHD), the transfer of patients from pediatric cardiologists to ACHD cardiologists is of relevance. However, little is known about the clinical courses of ACHD patients that have been referred by non-CHD-specialized doctors (n-CSDs). MethodsThis retrospective cohort study included 230 patients (average age: 37 ± 15.2 years, male: 97) who were referred to a single specialized ACHD center between April 2016 and July 2019. We compared the characteristics and clinical courses between patients referred by n-CSDs and those referred by CHD-specialized-doctors (CSDs). ResultsOverall, 121 (53%) patients were referred by n-CSDs. Among them, 91 (75%) patients were referred by adult cardiologists. Univariate analysis showed that the patients referred by n-CSDs were older than those referred by CSDs (41.6 ± 16.3 vs. 32.0 ± 12.0 years, p < 0.01), were more likely to have simple CHD, and less likely to have severe CHD (27.0% vs. 12.8% and 16.5% vs. 40.4%, respectively, p < 0.01). Patients referred by n-CSDs were also more likely to have a history of loss of follow-up (16.5% vs. 3.7%, p < 0.01) and to require invasive treatments after referral, including cardiac surgeries and transcatheter interventions (47.9% vs. 26.6 %, p < 0.01). Notably, unintended invasive treatments that were not designated by the referring doctors were more frequently required in patients with moderate complexity referred by n-CSDs (50.0% vs. 23.3%, p = 0.02). ConclusionsPatients with moderate CHD complexity referred by n-CSDs are more likely to require unintended invasive treatments. Referrals to specialized ACHD centers may be most beneficial for these patients.

Predictive factors of death associated with infective endocarditis in adult patients with congenital heart disease.

Infective endocarditis is a severe infection which can occur in adult patients with congenital heart disease. We aimed to determine outcomes and risk factors of death in adult congenital heart disease and to investigate differences with infective endocarditis in non-congenital heart disease. Between March 2000 and June 2018, 671 consecutive episodes of infective endocarditis in adult patients were retrospectively recorded. Cases were classified according to the modified Duke classification. All adult congenital heart disease cases were managed by infectious disease specialists and adult congenital heart disease cardiologists. During this period, 142 infective endocarditis episodes (21%) occurred in adult congenital heart disease patients with simple (46.5%), moderate (21.1%), or complex (32.4%) congenital heart disease. In-hospital mortality was 12.7%. The strongest predictive factors of in-hospital death in multivariate analysis were complexity of congenital heart disease (odds ratio (OR) 8.02, 95% confidence interval (CI) 1.53-42.07), age (OR 1.05, 95% CI 1.00-1.19) and white blood cell count 12 g/L or greater (OR 8.72, 95% CI 2.42-31.43). Patients with congenital heart disease were significantly younger (median age 36 vs. 67 years, P<0.001), had undergone more redo cardiac surgeries (35.7% vs. 11.3%, P<0.01) and presented with more right-sided infective endocarditis (39.4% vs. 7.9%, P<0.01) than patients without congenital heart disease. Congenital heart disease was associated with two-fold lower in-hospital mortality rates (OR 0.37, 95% CI 0.19-0.74), independently of age, gender, obesity, renal function and side of infective endocarditis. Although mortality associated with infective endocarditis is lower in adult patients with congenital heart disease than patients without congenital heart disease, infective endocarditis mortality is particularly high in patients with complex congenital heart disease. Education and prevention about the risk of infective endocarditis is essential, especially in this group.

Opinions of general and adult congenital heart disease cardiologists on care for adults with congenital heart disease in Belgium: a qualitative study

The growing adult congenital heart disease (CHD) population requires efficient healthcare organisation. It has been suggested that clinically appropriate care be provided for individual patients on the least complex level possible, in order to alleviate saturation of special care programmes. Semi-structured interviews with 10 general and 10 adult CHD cardiologists were conducted to elucidate opinions on healthcare organisation in Belgium. A particular focus was placed on the potential role of general cardiologists. The software program NVivo 12 facilitated thematic analysis. A discrepancy existed between how general cardiologists thought about congenital care and what adult CHD cardiologists considered the minimum knowledge required to adequately treat patients. Qualitative data were categorised under the following themes: knowledge dissemination, certification, (de)centralisation of care, the role of adult CHD cardiologists, the role of dedicated nurse specialists, and patient referral. It appeared to be pivotal to organise care in such a way that providing basic care locally does not impede the generation of sufficient patient volume, and to continue improving communications between different care levels when there is no referral back. Moreover, practical knowledge is best disseminated locally. Cardiologists' opinions on certification and on the role of dedicated nurse specialists were mixed. On the basis of the results, we propose five recommendations for improving the provision of care to adults with CHD. A multidimensional approach to defining the role of different healthcare professionals, to improving communication channels, and to effectively sensitising healthcare professionals is needed to improve the organisation of care.

Do we have the ACHD physician resources we need to care for the burgeoning ACHD population?

Delivery of care to the adult congenital heart disease (ACHD) population has been limited by a shortage in the ACHD physician resources. There is limited data regarding the adequacy of the ACHD physician resources in the United States and our population estimates are extrapolated from Canadian data. Therefore, we proposed to evaluate the adequacy of ACHD physician: patient ratios in the United States at both national and regional levels. Data from the Adult Congenital Heart Association (ACHA) website along with metropolitan area and statewide population data from 2016 US Census Bureau estimates were analyzed. Physicians listed on the ACHA website were cross-referenced with ABIM to verify ACHD board certification status. There are 115 self-identified ACHD programs and 418 self-identified ACHD physicians listed in the ACHA website. There are 320 board-certified ACHD cardiologists in the United States today, including 161 not listed in the ACHA website. Regarding ratios of ACHD-certified physicians to patients, the best served metropolitan statistical area (MSA) is Raleigh-Cary, NC, and the worst served MSA is Riverside-San Bernardino-Ontario, CA. The best served State is Washington, DC, and the worst served State is Indiana. The ACHD population continues to grow, and the looming national physician shortage is likely to greatly affect the ability to meet the complex needs of this growing population. In order to bring the ACHD patient: physician ratio to 1000:1, a minimum of 170 additional ACHD board-certified physicians are needed now.

Adult Congenital Heart Disease in Australia and New Zealand: A Call for Optimal Care

Adult congenital heart disease (ACHD) is a relatively new subspecialty in the cardiology field. The prevalence of ACHD is estimated at ∼ 3,000 per million adult population. The ACHD patient group is estimated to grow at ∼ 5% per year and in the next decade it is forecast that 1 in 150 young adults will carry some form of ACHD diagnosis. These estimates translate to ∼ 72,000 ACHD patients in Australia and ∼ 14,000 in New Zealand, although no current numbers are available. The Cardiac Society of Australia and New Zealand (CSANZ) has recently published Recommendations for Standards of Care for Adult Congenital Heart Disease (ACHD) in 2016. There is currently no long-term plan or proposal to address this huge health care burden within the federal government. This document details the size of the problem insofar as it is known and recommends solutions to be implemented. This document was developed by the Adult Congenital Heart Disease Working Group of the Paediatric and Congenital Council (the Congenital Heart Alliance of Australia and New Zealand) as a response to the chronic under resourcing in this area, the risk this poses to patients and clinicians, and the clear need for long-term planning to develop safe care pathways. These issues were raised with the CSANZ Board in December 2015 and the document was developed in response to the Board's request for more information. The current iteration was finalised on 14 November 2017. The authorship group comprised participants in the CSANZ adult CHD standards of care recommendations from 2013 with the inclusion of some newly trained ACHD cardiologists, who represented most states and territories across ANZ. None of the authors has any academic or professional conflict of interest.

Quality Indicator Completion Rates for Adults with Tetralogy of Fallot.

Quality indicators for adult congenital heart disease (ACHD) were recently published due to a lack of consensus regarding delivery of care to adults with congenital heart disease (CHD). The objective of this study was to examine adherence to quality indicators for the care of patients with tetralogy of Fallot. Adults with tetralogy of Fallot seen in outpatient cardiology clinics at a tertiary care facility between July 2014 and June 2015 were included, and electronic medical records for each visit were reviewed. Completion rates for eight proposed quality indicator metrics were recorded and results for ACHD and non-ACHD cardiologists were compared. A total of 96 eligible patients completed 179 cardiology visits (134 ACHD and 45 non-ACHD). The quality indicator completion rates were over 80% for 7 of the 8 indicators. Metric 5 (cardiac magnetic resonance imaging every five years) had the lowest completion rate at 38.7%. Compared to non-ACHD cardiologists, ACHD cardiologists had higher completion rates for QRS assessment (88.1% vs. 75.6%, p = 0.04), echocardiogram by CHD expert (97.8% vs. 80.0%, p < 0.001), and infective endocarditis counseling (95.9% vs. 77.4%, p = 0.001). In this single center study, there was a wide range of quality indicator completion rates for tetralogy of Fallot. Routine cardiac MRI by an expert in CHD was identified as an area for improvement. There were significant differences in quality indicator completion between ACHD and non-ACHD cardiologists.

Setting up an adult congenital heart programme

With the growing number of adult patients with congenital heart defects in the developing world, many institutions and practice groups are beginning or growing their adult congenital heart disease (ACHD) programmes. In this paper, we review: ■ Practical considerations in establishing a clinic (Where will your patients come from? How many new referrals annually can you anticipate?); ■ Transition and transfer challenges (can you avoid the loss to care of children with moderate and complex congenital heart defects? Is there an agreed age of transfer policy? Is there an available and effective transition process?); ■ Institutional considerations (do you really have the support of your institution? Where should your program be located? Where will you admit your inpatients?); ■ Patient care imperatives (how will you commit to excellent patient care? How will you meet the needs of your patients? Clearly designate which patients you will need to refer out and to which services they will be referred); ■ The composition of the ACHD team (begin with two ACHD cardiologists and skilled echocardiography, consider a mix of pediatric trained and adult trained cardiologists, grow from there in a modular fashion if you can to include more multidisciplinary team members, and duplicate essential service positions); and ■ Organisation and accreditation of ACHD care (ACHD services need to be managed differently than pediatric services across the full diagnostic and treatment clinical spectrum).

The impact of 2007 infective endocarditis prophylaxis guidelines on the practice of congenital heart disease specialists

the impact of the 2007 American Heart Association endocarditis prophylaxis guidelines on clinician practice has not been well established. Our objective was to evaluate how the American Heart Association endocarditis guidelines changed the practice of cardiologists who manage congenital heart disease and to ascertain the degree of practice variation among cardiologists. a cross-sectional Web-based survey was e-mailed to Canadian (n = 134), Australian (n = 33), New Zealand (n = 9), and a random sample of American (n = 250) pediatric and adult congenital heart disease cardiologists in 2008. Nonrespondents received the survey 4 times by e-mail and once by regular post. the response rate was 55%. The lesions for which cardiologists were most evenly divided between recommending versus not recommending prophylaxis were "rheumatic mitral stenosis of moderate severity" (45% recommended prophylaxis) and "perimembranous ventricular septal defect (VSD) status post surgical patch closure with no residual shunt 3 months post-operatively" (54% recommended prophylaxis). The lesions for which the greatest proportion of cardiologists discontinued prophylaxis were "small muscular VSD, no previous endocarditis" (80% discontinued prophylaxis) and "small audible patent ductus arteriosus" (83% discontinued prophylaxis). Only 69% recommended prophylaxis for "VSD s/p surgical patch closure with small residual shunt" despite current guidelines recommending prophylaxis for this scenario. Twenty-eight percent of respondents felt that the new guidelines leave some patients at risk, and 6% would not recounsel any low-risk patients following these guidelines. the 2007 guidelines have resulted in a substantial change in endocarditis prophylaxis. There remains considerable heterogeneity among cardiologists regarding the prophylaxis of certain cardiac lesions.

Healthcare provision for adults with congenital heart disease in Europe: a review

To draw attention to the substantial growth of number of centres that provide specialized care for adult congenital heart disease, to what is needed in such a specialized centre and--most importantly--to the big proportion of patients who are lost to follow-up. For a long time it was assumed that loss of follow-up or lapse of care started at the time of transfer of care from paediatric cardiology to an adult setting. In recent years it became clear, from studies from all over the world, that the loss of follow-up was much larger than assumed and that it started to become substantial after childhood, in the adolescent and teenage years. The implication of these findings is that--to avoid the very substantial loss to follow-up--a timely transition programme must start, that is before the big loss to follow-up starts, at the beginning of the adolescent years. The current workforce is inadequate to care for the vast number of adult congenital heart disease patients in the community; it will be necessary to establish more adult congenital heart disease programmes, to train more adult congenital heart disease cardiologists, to implement transition programmes and to take nurse specialists on staff.

Recommendations for adult and paediatric cardiologists on obtaining additional qualification in “Adults with Congenital Heart Disease” (ACHD)

BackgroundThe number of adult congenital heart disease (ACHD) patients will be larger in the medium to long term than that of children and adolescents with congenital heart disease. The present structures for the medical care of ACHD patients are not sufficient and need to be improved. Therefore the Task Force aimed at developing recommendations for adult and paediatric cardiologists to acquire the additional qualification “Adults with Congenital Heart Disease” (ACDH). MethodsThe members of the interdisciplinary Task Force were selected on the basis of their special clinical, scientific and organisational expertise. The leading author submitted a draft version, which was revised by a sub-group of the interdisciplinary Task Force. It was subsequently agreed upon and re-circulated by all the members of the Task Force. The recommendations were then presented to the relevant committees of all participating associations and groups and approved following detailed discussion. ResultsA training programme for acquiring an additional qualification in the treatment of adults with congenital heart disease was created successfully. ConclusionsThe medical care of adults with congenital heart disease is a sub-speciality in the border area between adult cardiology and paediatric cardiology. ACHD cardiologists are to be specially trained experts with appropriate knowledge and special skills and experience in the diagnosis and therapy of congenital heart disease in adults. ACHD cardiologists should be able to recognise and treat problems that occur in adulthood in connection with congenital heart disease.