Cardiovascular Complications of Down Syndrome: Scoping Review and Expert Consensus.

Cardiovascular disease is a leading cause of morbidity and mortality in individuals with Down syndrome. Congenital heart disease is the most common cardiovascular condition in this group, present in up to 50% of people with Down syndrome and contributing to poor outcomes. Additional factors contributing to cardiovascular outcomes include pulmonary hypertension; coexistent pulmonary, endocrine, and metabolic diseases; and risk factors for atherosclerotic disease. Moreover, disparities in the cardiovascular care of people with Down syndrome compared with the general population, which vary across different geographies and health care systems, further contribute to cardiovascular mortality; this issue is often overlooked by the wider medical community. This review focuses on the diagnosis, prevalence, and management of cardiovascular disease encountered in people with Down syndrome and summarizes available evidence in 10 key areas relating to Down syndrome and cardiac disease, from prenatal diagnosis to disparities in care in areas of differing resource availability. All specialists and nonspecialist clinicians providing care for people with Down syndrome should be aware of best clinical practice in all aspects of care of this distinct population.

The Complementary Roles of Open and Endovascular Repair of Extent I - III Thoraco-abdominal Aortic Aneurysms in a United Kingdom Aortic Centre.

OBJECTIVE: A multidisciplinary approach offering both open surgical repair (OSR) and complex endovascular aortic repair (cEVAR) is essential if patients with thoraco-abdominal aortic aneurysms (TAAAs) are to receive optimal care. This study reports early and midterm outcomes of elective and non-elective OSR and cEVAR for extent I - III TAAA in a UK aortic centre. METHODS: Retrospective study of consecutive patients treated between January 2009 and December 2021. Primary endpoint was 30 day/in hospital mortality. Secondary endpoint was Kaplan-Meier estimates of midterm survival. Data are presented as median (interquartile range [IQR]). RESULTS: In total, 296 patients (176 men; median age 71 years [IQR 65, 76]; median aneurysm diameter 66 mm [IQR 61, 75]) underwent repair (222 elective, 74 non-elective). OSR patients (n = 66) were significantly younger with a higher incidence of heritable disease and chronic dissection, while cEVAR patients (n = 230) had a significantly higher prevalence of coronary, pulmonary, and renal disease. Overall, in hospital mortality after elective and non-elective repair was 3.2% (n = 7) and 23.0% (n = 17), respectively, with no significant difference between treatment modalities (elective OSR 6.5% vs. cEVAR 2.3%, p = .14; non-elective OSR 25.0% vs. cEVAR 20.3%, p = .80). Major non-fatal complications occurred in 15.3% (33/215) after elective repair (OSR 39.5%, 17/43, vs. cEVAR 9.3%, 16/172; p < .001) and 14% (8/57) after non-elective repair (OSR 26.7%, 4/15, vs. cEVAR 9.5%, 4/42; p = .19). Median follow up was 52 months (IQR 23, 78). Estimated survival ± standard error at 1, 3, and 5 years for the entire cohort was 89.6 ± 2.0%, 76.6 ± 2.9%, and 69.0% ± 3.2% after elective repair, and 67.6 ± 5.4%, 52.1 ± 6.0%, and 41.0 ± 6.2% after non-elective repair. There was no difference in 5 year survival comparing modalities after elective repair for patients younger than 70 years and those with post-dissection aneurysms. CONCLUSION: A multidisciplinary approach offering OSR and cEVAR can deliver comprehensive care for extent I - III TAAA with low early mortality and good midterm survival. Further studies are required to determine the optimal complementary roles of each treatment modality.

Does the impact of bereavement vary between same and different gender partnerships? A representative national, cross-sectional study.

BACKGROUND: Data suggest poorer bereavement outcomes for lesbian, gay and bisexual people, but this has not been estimated in population-based research. This study compared bereavement outcomes for partners of same-gender and different-gender decedents. METHODS: In this population-based, cross-sectional survey of people bereaved of a civil partner or spouse 6-10 months previously, we used adjusted logistic and linear regression to investigate outcomes of interest: (1) positive screen on Inventory of Complicated Grief (ICG), (2) positive screen on General Health Questionnaire (GHQ), (3) grief intensity (ICG) and (4) psychiatric symptoms (GHQ-12). RESULTS: Among 233 same-gender partners and 329 of different-gender partners, 66.1% [95% confidence interval (CI) 60.0-72.2] and 59.2% [95% CI (53.9-64.6)] respectively screened positive for complicated grief on the ICG, whilst 76.0% [95% CI (70.5-81.5)] and 69.3% [95% CI (64.3-74.3)] respectively screened positive on the GHQ-12. Same-gender bereaved partners were not significantly more likely to screen positive for complicated grief than different-gender partners [adjusted odds ratio (aOR) 1.56, 95% CI (0.98-2.47)], p = 0.059, but same-gender bereaved partners were significantly more likely to screen for psychiatric caseness [aOR 1.67 (1.02, 2.71) p = 0.043]. We similarly found no significant association of partner gender with grief intensity [B = 1.86, 95% CI (-0.91to 4.63), p = 0.188], but significantly greater psychological distress for same-gender partners [B = 1.54, 95% CI (-0.69-2.40), p < 0.001]. CONCLUSIONS: Same-gender bereaved partners report significantly more psychological distress. In view of their poorer sub-clinical mental health, clinical and bereavement services should refine screening processes to identify those at risk of poor mental health outcomes.

Cardiac resynchronization therapy in adults with structural congenital heart disease and chronic heart failure.

AIMS: Evidence for CRT in adults with congenital heart disease (ACHD) and chronic heart failure is limited, with recommendations for its use extrapolated from the population with structurally normal hearts. This retrospective observational study investigates the efficacy of CRT in this heterogenous group, discussing factors predicting response to CRT. METHODS: Twenty-seven patients with structural ACHD who underwent CRT insertion or upgrade at a tertiary center in the United Kingdom were retrospectively studied. The primary outcome measure was clinical response to CRT, defined as improvement of NYHA class and/or improvement in systemic ventricular ejection fraction by one category. Secondary outcomes included change in QRS duration and adverse events. RESULTS: Thirty-seven percent of patients had a systemic right ventricle (sRV). RBBB was the commonest baseline QRS morphology (40.7%) despite this being an unfavorable characteristic for CRT. Overall, positive response to CRT was demonstrated in 18 patients (66.7%). NYHA class improved in 55.5% following CRT (p = .001) and 40.7% showed improvement in systemic ventricular ejection fraction (p = .118). There were no baseline characteristics that predicted response to CRT, and electrocardiographic measures such as QRS shortening post-CRT was not associated with positive response. Good response rates (60.0%) were demonstrated in those with sRV. CONCLUSION: CRT is efficacious in structural ACHD including in those who do not meet conventional criteria. Extrapolation of recommendations from adults with structurally normal hearts may be inappropriate. Future research should focus on improving patient selection for CRT, for example using techniques to better quantify mechanical dysynchrony and intra-procedural electrical activation mapping in these complex patients.

LGBT+ partner bereavement and appraisal of the Acceptance-Disclosure Model of LGBT+ bereavement: A qualitative interview study.

BACKGROUND: Support from social networks is vital after the death of a partner. Lesbian, gay, bisexual and/or transgender (LGBT+) people can face disenfranchisement and isolation in bereavement. The Acceptance-Disclosure Model (of LGBT+ bereavement) posits that experiences are shaped by the extent to which individuals feel able to disclose their bereavement to others, and whether that loss is acknowledged appropriately. AIM: To explore LGBT+ specific experiences of partner bereavement; determine decision-making processes regarding disclosure of relationships/identities; and appraise the Acceptance-Disclosure Model using primary qualitative data. DESIGN: Exploratory in-depth qualitative interview study positioned within a social constructivist paradigm. Data were analysed using inductive and deductive reflexive thematic analysis. SETTING/PARTICIPANTS: 21 LGBT+ people from across England bereaved of their civil partner/spouse. RESULTS: Participants described LGBT+ specific stressors in bereavement: lack of recognition of their loss; inappropriate questioning; unwanted disclosure of gender history; and fears of discrimination when accessing support. Disclosure of LGBT+ identities varied across social networks. Some participants described hiding their identities and bereavement to preserve relationships, and challenging intersections between LGBT+ identities and other aspects of culture or self. These findings provide primary evidence to support the Acceptance-Disclosure Model. CONCLUSIONS: LGBT+ people face additional stressors in bereavement. Not all LGBT+ people want to talk directly about their relationships/identities. Sensitive exploration of support needs, aligned with preferences around disclosure of identities, can help foster trust. Five recommendations for inclusive practice are presented. Further research should consider whether the Acceptance-Disclosure Model has utility to explain bereavement experiences for other isolated or disenfranchised groups.

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.

Tetralogy of Fallot (ToF) can be associated with a wide range of extracardiac anomalies, with an underlying etiology identified in approximately 10% of cases. Individuals affected with Myhre syndrome due to recurrent SMAD4 mutations frequently have cardiovascular anomalies, including congenital heart defects. In addition to two patients in the literature with ToF, we describe five additional individuals with Myhre syndrome and classic ToF, ToF with pulmonary atresia and multiple aorto-pulmonary collaterals, and ToF with absent pulmonary valve. Aorta hypoplasia was documented in one patient and suspected in another two. In half of these individuals, postoperative cardiac dysfunction was thought to be more severe than classic postoperative ToF repair. There may be an increase in right ventricular pressure, and right ventricular dysfunction due to free pulmonic regurgitation. Noncardiac developmental abnormalities in our series and the literature, including corectopia, heterochromia iridis, and congenital miosis suggest an underlying defect of neural crest cell migration in Myhre syndrome. We advise clinicians that Myhre syndrome should be considered in the genetic evaluation of a child with ToF, short stature, unusual facial features, and developmental delay, as these children may be at risk for increased postoperative morbidity. Additional research is needed to investigate the hypothesis that postoperative hemodynamics in these patients may be consistent with restrictive myocardial physiology.

The impact of the COVID-19 pandemic on application of European Society of Cardiology (ESC) guidelines for exercise in adults with CHD: a data-based questionnaire.

INTRODUCTION: Regular physical activity is safe and effective therapy for adults with CHD and is recommended by European Society of Cardiology guidelines. The COVID-19 pandemic poses enormous challenges to healthcare teams and patients when ensuring guideline compliance. We explored the implications of COVID-19 on physical activity levels in adult CHD patients. MATERIALS AND METHODS: A data-based questionnaire was distributed to adult CHD patients at a regional tertiary centre from October to November 2020. RESULTS: Prior to the COVID-19 pandemic, 96 (79.3%) of 125 respondents reported participating in regular physical activity, with 66 (52.8%) meeting target levels (moderate physical activity for at least 150 minutes per week). Commonest motivations for physical activity were general fitness (53.6%), weight loss (36.0%), and mental health benefits (30.4%). During the pandemic, the proportion that met target levels significantly decreased from 52.8% to 40.8% (p = 0.03). The commonest reason was fear of COVID-19 (28.0%), followed by loss of motivation (23.2%) and gym/fitness centre closure (15.2%). DISCUSSION: The COVID-19 pandemic has negatively impacted exercise levels of adult CHD patients. Most do not meet recommended physical activity levels, mainly attributable to fear of COVID-19. Even before the pandemic, only half of respondents met physical activity guidelines. Availability of online classes can positively impact exercise levels so could enhance guideline compliance. This insight into health perceptions and behaviours of adult CHD patients may help develop quality improvement initiatives to improve physical activity levels in this population.

Adolescents and adults with Fontan circulation: insights from the PREpArE-Fontan registry.

The Patient Registry for Adolescents and Adults with Stable Fontan Circulation aims to describe a contemporary cohort of Fontan patients who could be eligible for a clinical trial investigating macitentan, an endothelin receptor antagonist. This international, non-interventional, multicentre, cross-sectional, observational registry enrolled patients with "stable" Fontan circulation ≥10 years following extra-cardiac conduit or lateral tunnel procedure. Main exclusion criteria were NYHA functional class IV, reoperation of Fontan circulation, or signs of disease worsening. Patient characteristics at enrolment are described; available data were collected during a single registration visit. Of the 266 screened patients, 254 were included in this analysis. At enrolment, median (interquartile range) age was 24 (20;30) years, 37%/63% of patients were from the USA/Europe, 54% were male, 54%/47% had undergone extra-cardiac conduit/lateral tunnel procedures, and 95% were in NYHA functional class I or II. History of arrhythmia was more common in older patients and patients with lateral tunnel; overall prevalence was 19%. Most laboratory values were within the normal range but mean creatinine clearance was abnormally low (87.7 ml/min). Angiotensin-converting enzyme inhibitors were used by 48% of patients and their use was associated with creatinine clearance <90 ml/min (p = 0.007), as was Fontan completion at an older age (p = 0.007). 53.4% of patients had clinical characteristics that could potentially meet an endothelin receptor antagonist trial's eligibility criteria. The PREpArE-Fontan registry describes a cohort of patients who could potentially participate in an endothelin receptor antagonist trial and identified early subtle signs of Fontan failure, even in "stable" patients.

Outcomes of Cardiac Screening in Adolescent Soccer Players.

BACKGROUND: Reports on the incidence and causes of sudden cardiac death among young athletes have relied largely on estimated rates of participation and varied methods of reporting. We sought to investigate the incidence and causes of sudden cardiac death among adolescent soccer players in the United Kingdom. METHODS: From 1996 through 2016, we screened 11,168 adolescent athletes with a mean (±SD) age of 16.4±1.2 years (95% of whom were male) in the English Football Association (FA) cardiac screening program, which consisted of a health questionnaire, physical examination, electrocardiography, and echocardiography. The FA registry was interrogated to identify sudden cardiac deaths, which were confirmed with autopsy reports. RESULTS: During screening, 42 athletes (0.38%) were found to have cardiac disorders that are associated with sudden cardiac death. A further 225 athletes (2%) with congenital or valvular abnormalities were identified. After screening, there were 23 deaths from any cause, of which 8 (35%) were sudden deaths attributed to cardiac disease. Cardiomyopathy accounted for 7 of 8 sudden cardiac deaths (88%). Six athletes (75%) with sudden cardiac death had had normal cardiac screening results. The mean time between screening and sudden cardiac death was 6.8 years. On the basis of a total of 118,351 person-years, the incidence of sudden cardiac death among previously screened adolescent soccer players was 1 per 14,794 person-years (6.8 per 100,000 athletes). CONCLUSIONS: Diseases that are associated with sudden cardiac death were identified in 0.38% of adolescent soccer players in a cohort that underwent cardiovascular screening. The incidence of sudden cardiac death was 1 per 14,794 person-years, or 6.8 per 100,000 athletes; most of these deaths were due to cardiomyopathies that had not been detected on screening. (Funded by the English Football Association and others.).

COVID-19 and adult congenital heart disease services: impact on support and advice from nurse specialists.

Although the focus on service provision in response to the COVID-19 pandemic has mainly been on acute and particularly intensive care, it is important to consider other services that are still needed. This is especially the case for vulnerable patients with long-term conditions, such as those under the care of an adult congenital heart disease (ACHD) service. The authors conducted a survey of ACHD nurse specialists in centres across the UK to acertain what they were planning in terms of the redeployment of nurse specialists. The results showed a range of plans with an average of half of nurses per centre being moved, but with 65% of the workforce planned to be redeployed to deal with the pandemic. The telephone advice service at the authors' own level 1 centre showed a significant increase in patients seeking advice when compared with the previous year, with large peaks following major Government announcements. Access to specialist advice for patients with complex conditions is of vital interest, for those in a wide range of specialities.

Partial anomalous pulmonary venous drainage in patients presenting with suspected pulmonary hypertension: A series of 90 patients from the ASPIRE registry.

BACKGROUND AND OBJECTIVE: There are limited data regarding patients with PAPVD with suspected and diagnosed PH. METHODS: Patients with PAPVD presenting to a large PH referral centre during 2007-2017 were identified from the ASPIRE registry. RESULTS: Ninety patients with PAPVD were identified; this was newly diagnosed at our unit in 71 patients (78%), despite 69% of these having previously undergone CT. Sixty-seven percent had a single right superior and 23% a single left superior anomalous vein. Patients with an SV-ASD had a significantly larger RV area, pulmonary artery and L-R shunt and a higher % predicted DLCO (all P < 0.05). Sixty-five patients were diagnosed with PH (defined as mPAP ≥ 25 mm Hg), which was post-capillary in 24 (37%). No additional causes of PH were identified in 28 patients; 17 of these (26% of those patients with PH) had a PVR > 3 WU. Seven of these patients had isolated PAPVD, five of whom (8% of those patients with PH) had anomalous drainage of a single pulmonary vein. CONCLUSION: Undiagnosed PAPVD with or without ASD may be present in patients with suspected PH; cross-sectional imaging should therefore be specifically assessed whenever this diagnosis is considered. Radiological and physiological markers of L-R shunt are higher in patients with an associated SV-ASD. Although many patients with PAPVD and PH may have other potential causes of PH, a proportion of patients diagnosed with PAH have isolated PAPVD in the absence of other causative conditions.

Supervised pulmonary hypertension exercise rehabilitation (SPHERe): study protocol for a multi-centre randomised controlled trial.

BACKGROUND: Supervised cardio-pulmonary rehabilitation may be safe and beneficial for people with pulmonary hypertension (PH) in groups 1 (pulmonary arterial hypertension) and 4 (chronic thromboembolic disease), particularly as a hospital in-patient. It has not been tested in the most common PH groups; 2 (left heart disease), 3 (lung disease), or 5 (other disorders). Further it has not been evaluated in the UK National Health Service (NHS) out-patient setting, or with long-term follow-up. The aim of this randomised controlled trial (RCT) is to test the clinical and cost-effectiveness of a supervised exercise rehabilitation intervention with psychosocial support compared to best practice usual care for people with PH in the community/outpatient setting. METHODS: This multi-centre, pragmatic, two-arm RCT with embedded process evaluation aims to recruit 352 clinically stable adults with PH (groups 1-5) and WHO functional class II-IV. Participants will be randomised to either the Supervised Pulmonary Hypertension Exercise Rehabilitation (SPHERe) intervention or control. The SPHERe intervention consists of 1) individual assessment and familiarisation sessions; 2) 8-week, twice-weekly, supervised out-patient exercise training; 3) psychosocial/motivational support and education; 4) guided home exercise plan. The control intervention consists of best practice usual care with a single one-to-one practitioner appointment, and general advice on physical activity. Outcomes will be measured at baseline, 4 months (post-intervention) and 12 months by researchers blinded to treatment allocation. The primary outcome is the incremental shuttle walk test at 4 months. Secondary outcomes include health-related quality of life (HRQoL), time to clinical worsening and health and social care use. A purposive sample of participants (n = 20 intervention and n = 20 control) and practitioners (n = 20) will be interviewed to explore experiences of the trial, outcomes and interventions. DISCUSSION: The SPHERe study is the first multi-centre clinical RCT to assess the clinical and cost effectiveness of a supervised exercise rehabilitation intervention compared to usual care, delivered in the UK NHS, for people in all PH groups. Results will inform clinicians and commissioners as to whether or not supervised exercise rehabilitation is effective and should be routinely provided for people with PH. TRIAL REGISTRATION: ISRCTN no. 10608766, prospectively registered on 18th March 2019.

Long-term outcomes of cardiac resynchronization therapy in adult congenital heart disease.

BACKGROUND AND AIMS: Randomized, controlled trials of cardiac resynchronization therapy (CRT) excluded patients with adult congenital heart disease (ACHD). We sought to explore long-term clinical outcomes. METHODS AND RESULTS: In this single-center, observational study, events were collected from hospital records on patients with structural ACHD (sACHD) and adults with ischemic (ICM) or nonischemic (NICM) cardiomyopathy undergoing CRT. Patients with sACHD (n = 23, age: 41.6 ± 13.5 years [mean ± standard deviation]) and adults with ICM (n = 533) or NICM (n = 458) were followed-up for 4.1 years (median; interquartile range: 2.2-6.1). Total mortality was 5/23 (21.7%; 4.4 per 100 person-years) in sACHD, 221/533 (41.5%; 11.8 per 100 person-years) in ICM, and 154/458 (33.6%; 9.7 per 100 person-years) in NICM. In univariate analyses, total mortality in sACHD was lower than in ICM (hazard ratio [HR]: 0.38; 95% confidence interval [CI] 0.15-0.91), but similar to NICM (HR: 0.48, 95% CI 0.20-1.16). Cardiac mortality in sACHD was similar to ICM (HR: 0.78, 95% CI 0.32-1.92) and NICM (HR: 1.12, 95% CI 0.45-2.78). Heart failure (HF) hospitalization rates were similar to ICM (HR: 0.44, 95% CI 0.11-1.77) and NICM (HR: 0.75, 95% CI 0.18-3.08). In multivariate analyses, no differences emerged in total mortality, cardiac mortality, or HF hospitalization between sACHD and NICM or ICM, after adjustment for age, sex, New York Heart Association class, diabetes, atrial rhythm, QRS duration, QRS morphology, systemic ventricular ejection fraction, and medical therapy. CONCLUSION: Total mortality, cardiac mortality, and HF hospitalization after CRT in patients with sACHD was similar to adults with ICM or NICM.

Research priorities in single-ventricle heart conditions: a United Kingdom national study.

OBJECTIVE: To bring together stakeholders in the United Kingdom to establish national priorities for research in single-ventricle heart conditions. METHODS: This study comprised two surveys and a workshop. The initial public online survey asked respondents up to three questions they would like answered for research. Responses were classified as unanswered, already answered, or unable to be answered by scientific research. In the follow-up survey, unanswered questions were divided into categories and respondents were asked to rank categories and questions by priority. A stakeholder workshop attended by patients, parents, healthcare professionals, researchers, and charities was held to determine the final list of research priorities. RESULTS: A total of 128 respondents posed 344 research questions, of which 271 were classified as unanswered, and after removing duplicates, 204 questions remained, which were divided into 20 categories. In the second survey, 56 (49.1%) respondents successfully ranked categories and questions. A total of 39 participants attended the workshop, drawing up a list of 30 research priorities across nine priority categories. The nine priority categories are: Associated co-morbidities; Brain & neurodevelopment; Exercise; Fontan failure; Heart function; Living with a single ventricle heart condition; Management of the well-functioning Fontan circulation; Surgery & perioperative care; and Transplantation, mechanical support & novel therapies. CONCLUSIONS: Through a multi-stage process, we engaged a wide range of interested parties to establish a list of research priorities in single-ventricle heart conditions. This provides a platform for clinicians, researchers, and funders in the United Kingdom and elsewhere to address the most important questions and improve outcomes in these rare but high-impact CHDs.

Endovascular Repair of Acute Thoraco-abdominal Aortic Aneurysms.

OBJECTIVES: The outcome of endovascular repair (EVAR) for acute thoraco-abdominal aortic aneurysm (TAAA) is reported and the applicability of the t-Branch off the shelf (OTS) device is determined. METHODS: Interrogation of a prospectively maintained database identified all patients who underwent EVAR for acute TAAA between September 2012 (when the first non-elective t-Branch case was performed) and November 2015. Early and medium-term outcomes were analysed. Survival and re-intervention-free survival were calculated by Kaplan-Meier analysis. RESULTS: A total of 39 patients (27 men; mean ± SD age, 72 ± 8 years) were treated for acute symptomatic (n = 29) or ruptured (n = 10) TAAA (20 anatomical extent I-III, 19 extent IV). Fourteen patients had mycotic aneurysms. The mean aneurysm diameter was 80 ± 20 mm. The mean ± SD follow-up was 21.4 ± 15.4 months. Surgeon modified fenestrated EVAR was used in 24 patients, chimney/periscope EVAR in two, and t-Branch in 13 (33%) patients. Aortic coverage was greater than 40 mm above the coeliac axis in all patients. A total of 127 target vessels (TVs) were preserved (mean 3.3 per patient) and two occluded within 30 days. The 30 day mortality was 26%. Four (10%) patients developed spinal cord ischaemia (SCI): two with paraplegia died within 30 days, and two with paraparesis recovered completely with blood pressure manipulation and cerebrospinal fluid drainage. Estimated overall survival (±SD) at 12 and 24 months was 71.8 ± 7.2% and 63.2 ± 7.9%, respectively. Estimated freedom from re-intervention at 12 and 24 months was 93 ± 4.8% and 85.3 ± 6.8%, respectively. CONCLUSIONS: EVAR for acute TAAA is associated with acceptable early and mid-term results in patients who have no other treatment options. Only one third of these patients were suitable for the t-Branch device, indicating that further advances in device design are required to treat the majority of acute TAAA patients with commercially available OTS technology.

Management of Adults With Congenital Heart Disease and Pulmonary Arterial Hypertension in the UK: Survey of Current Practice, Unmet Needs and Expert Commentary.

BACKGROUND: Pulmonary arterial hypertension (PAH) is a well-recognised complication of adult congenital heart disease (CHD). However, management is not currently standardised between centres and specific guidelines are lacking. In order to identify and understand the unmet needs related to PAH associated with CHD (PAH-CHD), a survey of physicians was performed. METHODS: An electronic survey was sent to two physician groups: (1) cardiologists registered in a UK cardiology directory; (2) specialist pulmonary hypertension (PH) physicians known to manage patients with adult PAH-CHD. The questions related to referral pathways, screening, therapy and palliative care. RESULTS: 821 surveys were distributed and 106 were returned. Respondents included a broad mix of specialist physicians with many patients along with general cardiologists managing only a small number of PAH-CHD patients. Although 97% of respondents have access to a specialist PH centre, patients are still being managed in non-specialist settings. Shared care arrangements are widespread but only 41% have formal shared care protocols. Palliative care services are limited and general cardiologists rarely perform 6-minute walk tests (6MWT) or quality of life assessments. People with PAH-CHD are often undertreated, with 39% of respondents reporting that fewer than 25% of these patients were receiving PAH-specific therapies. CONCLUSIONS: The survey revealed gaps and inconsistencies in the management of patients with PAH-CHD therefore patient-specific guidance is needed for many of these aspects.

Percutaneous Device Closure of Paravalvular Leak: Combined Experience From the United Kingdom and Ireland.

BACKGROUND: Paravalvular leak (PVL) occurs in 5% to 17% of patients following surgical valve replacement. Percutaneous device closure represents an alternative to repeat surgery. METHODS: All UK and Ireland centers undertaking percutaneous PVL closure submitted data to the UK PVL Registry. Data were analyzed for association with death and major adverse cardiovascular events (MACE) at follow-up. RESULTS: Three hundred eight PVL closure procedures were attempted in 259 patients in 20 centers (2004-2015). Patient age was 67±13 years; 28% were female. The main indications for closure were heart failure (80%) and hemolysis (16%). Devices were successfully implanted in 91% of patients, via radial (7%), femoral arterial (52%), femoral venous (33%), and apical (7%) approaches. Nineteen percent of patients required repeat procedures. The target valve was mitral (44%), aortic (48%), both (2%), pulmonic (0.4%), or transcatheter aortic valve replacement (5%). Preprocedural leak was severe (61%), moderate (34%), or mild (5.7%) and was multiple in 37%. PVL improved postprocedure (P<0.001) and was none (33.3%), mild (41.4%), moderate (18.6%), or severe (6.7%) at last follow-up. Mean New York Heart Association class improved from 2.7±0.8 preprocedure to 1.6±0.8 (P<0.001) after a median follow-up of 110 (7-452) days. Hospital mortality was 2.9% (elective), 6.8% (in-hospital urgent), and 50% (emergency) (P<0.001). MACE during follow-up included death (16%), valve surgery (6%), late device embolization (0.4%), and new hemolysis requiring transfusion (1.6%). Mitral PVL was associated with higher MACE (hazard ratio [HR], 1.83; P=0.011). Factors independently associated with death were the degree of persisting leak (HR, 2.87; P=0.037), New York Heart Association class (HR, 2.00; P=0.015) at follow-up and baseline creatinine (HR, 8.19; P=0.001). The only factor independently associated with MACE was the degree of persisting leak at follow-up (HR, 3.01; P=0.002). CONCLUSION: Percutaneous closure of PVL is an effective procedure that improves PVL severity and symptoms. Severity of persisting leak at follow-up is independently associated with both MACE and death. Percutaneous closure should be considered as an alternative to repeat surgery.

Long-term follow-up of implantable cardioverter-defibrillators in adult congenital heart disease patients: indications and outcomes.

AIMS: Ventricular arrhythmias are a major cause of mortality in adult congenital heart disease (ACHD) patients. The European Society of Cardiology guidelines state that implantable cardioverter-defibrillators (ICD) should be considered in patients with congenital heart disease following spontaneous sustained ventricular tachycardia (VT) or cardiac arrest and in patients at presumed high risk. This study sought to analyse the circumstances in which ACHD patients received ICD and to assess outcomes of ICD implantation, including therapies delivered and the rate of complications. METHODS AND RESULTS: A retrospective review was performed of all adult patients with congenital heart disease undergoing ICD implant between 2000 and 2014, in a large quaternary referral centre with over 4000 adults with congenital heart disease under active follow-up. Demographics: 42 patients with congenital heart disease had ICD implants: 55% male; age range 21-71 years and mean age 45 years. Mean age at implantation of ICD was 41 years. Mean follow-up was 5 years. Diagnosis: 50% of patients had repaired tetralogy of Fallot (TOF). Twelve per cent of patients had repaired transposition of the great arteries. Reason for ICD: 15 patients (35.7%) received ICD after sustained VT. Eleven patients (26.2%) received ICD after cardiac arrest. Sixteen (38%) had ICD implanted as primary prophylaxis. Outcome: Since implantation, six patients received an appropriate full-output shock for VT from ICD. Nineteen (45%) patients suffered significant complications (inappropriate shocks 11, inappropriate anti-tachycardia pacing resulting in VF 1, infection requiring extraction 3, lead abnormalities 3, and pneumothorax 1). Equal proportions of primary and secondary prevention patients received appropriate shocks. CONCLUSIONS: Most patients had ICD for secondary prevention (62%), and the majority had repaired TOF. There was a 2.9% annual appropriate shock rate. However, there was a high incidence of complications with more than a third suffering a major complication (9% per annum). The risks and benefits of ICD implantation are patient and disease specific, and must be clearly discussed prior to implantation. Further research is warranted into the use of primary prevention ICD in ACHD and in alternatives to ICD such as ablation in specific patient groups.

The use of Macitentan in Fontan circulation: a case report.

BACKGROUND: The Fontan circulation, a result of a palliative procedure in patients with single systemic ventricles, is defined by chronically elevated pulmonary vascular resistance. When traditional heart failure therapies fail, pharmacological agents that reduce pulmonary artery pressures may be used. These include endothelial-receptor antagonists, prostanoids and phosphodiesterase type 5 inhibitors. We report the first use of macitentan, an endothelin-receptor antagonist, in a patient with a Fontan circulation. CASE PRESENTATION: We describe the case of a 50 year old female with tricuspid atresia and transposition of the great arteries. Following complex surgery as a child, she subsequently underwent a fenestrated modified atrial pulmonary Fontan operation which was later converted to a total cavopulmonary anastomosis Fontan circulation. Due to failure of various medications to relieve her worsening symptoms, she was commenced on macitentan in April 2016. Few months later, she demonstrated a significant symptomatic improvement and associated increase in her incremental shuttle walking test distance. CONCLUSIONS: Macitentan has slower receptor dissociation kinetics compared to other endothelin-receptor antagonists, leading to enhanced pharmacological activity with promising effects in patients with pulmonary arterial hypertension. The patient we report has shown considerable improvement in exercise capacity following introduction of this medication and thus we suggest further randomised trials to establish the role of different endothelin-receptor antagonists in the management of the Fontan circulation.