[Pulmonary hypertension in adults with congenital heart disease in light of the 2022-ESC-PAH guidelines - Part II: Supportive therapy, special situations (pregnancy, contraception, non-cardiac surgery), targeted pharmacotherapy, organ transplantation, special management (shunt lesions, left ventricular disorders, univentricular hearts), interventions, intensive care, follow-up, future perspectives]. / Pulmonale Hypertonie bei Erwachsenen mit angeborenen Herzfehlern im Lichte der 2022-ESC-PAH-Leitlinien.

The number of adults with congenital heart defects (CHD) is steadily rising and amounts to approximately 360,000 in Germany. CHD is often associated with pulmonary hypertension (PH), which may develop early in untreated CHD. Despite timely treatment of CHD, PH not infrequently persists or recurs in older age and is associated with significant morbidity and mortality.The revised European Society of Cardiology/European Respiratory Society 2022 guidelines for the diagnosis and treatment of PH represent a significant contribution to the optimized care of those affected. However, the topic of "adults with congenital heart disease" is addressed only relatively superficial in these guidelines. Therefore, in the present article, this topic is commented in detail from the perspective of congenital cardiology.

Impact of COVID-19 Infections among Unvaccinated Patients with Congenital Heart Disease: Results of a Nationwide Analysis in the First Phase of the Pandemic.

Background: The outcome data and predictors for mortality among patients with congenital heart disease (CHD) affected by COVID-19 are limited. A more detailed understanding may aid in implementing targeted prevention measures in potential future pandemic events. Methods: Based on nationwide administrative health insurance data, all the recorded in-hospital cases of patients with CHD with COVID-19 in 2020 were analyzed. The demographics, treatment details, as well as 30-day mortality rate were assessed. The associations of the patients' characteristics with death were assessed using multivariable logistic regression analysis. Results: Overall, 403 patients with CHD were treated in- hospital for COVID-19 in 2020. Of these, 338 patients presented with virus detection but no pneumonia whilst, 65 patients suffered from associated pneumonia. The cohort of patients with pneumonia was older (p = 0.04) and presented with more cardiovascular comorbidities such as diabetes mellitus (p = 0.08), although this parameter did not reach a statistically significant difference. The 30-day mortality rate was associated with highly complex CHD (odds ratio (OR) 7.81, p = 0.04) and advanced age (OR 2.99 per 10 years, p = 0.03). No child died of COVID-related pneumonia in our dataset. Conclusions: COVID-19 infection with associated pneumonia chiefly affected the older patients with CHD. Age and the complexity of CHD were identified as additional predictors of mortality. These aspects might be helpful to retrospectively audit the recommendations and guide health politics during future pandemic events.

[New aspects in pediatric pulmonary hypertension - Commented 2022ERS/ESC-PH guidelines]. / Neue Aspekte bei der pulmonalen Hypertonie im Kindesalter ­ kommentierte 2022ERS/ESC-PH-Guidelines.

Pulmonary hypertension (PH) in childhood differs from that of adulthood particularly in the specific pathophysiology of congenital heart disease-associated pulmonary arterial hypertension, the presence of developmental lung disease, and the frequent association with chromosomal, genetic, and syndromal abnormalities. Treatment of children with PH requires a modified diagnostic algorithm tailored to childhood, as well as pathophysiologically oriented therapeutic strategies. In the current 2022 ERS/ESC-PH guidelines, the specific features of PH in children are highlighted in its own chapter and commented on by the authorship group in this article.

[Pulmonary arterial hypertension in congenital heart disease - Part I]. / Pulmonale arterielle Hypertonie bei Erwachsenen mit angeborenen Herzfehlern ­ Teil I.

The number of adults with congenital heart disease (CHD) is steadily rising and amounts to approximately 360,000 in Germany. CHD is often associated with pulmonary arterial hypertension (PAH), which may develop early in untreated CHD. Despite timely treatment of CHD, PAH often persists or recurs in older age and is associated with significant morbidity and mortality.The revised European Society of Cardiology/European Respiratory Society 2022 guidelines for the diagnosis and treatment of PH represent a significant contribution to the optimized care of those affected. However, the topic of "adults with congenital heart defects" is addressed only relatively superficially in these guidelines. Therefore, this article addresses the perspective of congenital cardiology in greater depth.

Prognostic Value of Transthoracic Echocardiography in Children With Pulmonary Arterial Hypertension.

Background Transthoracic echocardiography is part of the regular follow-up protocol at most pediatric pulmonary arterial hypertension (PAH) centers. We aimed to develop a comprehensive and simple echocardiographic risk stratification for children with PAH. Methods and Results We included 63 children with PAH and a biventricular cardiac anatomy without relevant shunt lesions (60% female patients; mean age, 9.0 years; 42 idiopathic PAH and 21 associated PAH) undergoing a standardized transthoracic echocardiographic assessment. The prognostic value of echocardiographic parameters was assessed using Cox proportional hazards survival analysis and recursive partitioning for classification tree methods. Over a median follow-up period of 4.0 years, 17 patients died and 4 underwent lung transplantation. Various echocardiographic parameters were associated with the combined endpoint of death and transplantation on univariate analysis. On further analysis, right atrial area (z score) and left ventricular diastolic eccentricity index (LVEId) emerged as robust and independent predictors of transplant-free survival. Considering mortality alone as an end point, a combination of right atrial area, left ventricular diastolic eccentricity index, and tricuspid annular plane systolic excursion were identified as independent predictors of outcome. Based on these parameters, we propose simple risk scores that can be applied at the bedside without computer assistance. CONCLUSIONS Echocardiographic parameters predict prognosis in children with pulmonary hypertension. A combination of widely available parameters including right atrial area, left ventricular eccentricity index, and tricuspid annular plane systolic excursion emerged as risk stratifiers that await external validation but may assist clinicians determining the prognosis of children with PAH.

Immunodeficiency is prevalent in congenital heart disease and associated with increased risk of emergency admissions and death.

AIMS: To provide population-based data on the prevalence and clinical significance of immune deficiency syndromes (IDS) associated with congenital heart disease (CHD). METHODS AND RESULTS: Utilizing administrative German Health System data the prevalence of increased susceptibility to infection (ISI) or confirmed IDS was assessed in CHD patients and compared with an age-matched non-congenital control group. Furthermore, the prognostic significance of IDS was assessed using all-cause mortality and freedom from emergency hospital admission. A total of 54 449 CHD patients were included. Of these 14 998 (27.5%) had ISI and 3034 (5.6%) had a documented IDS (compared with 2.9% of the age-matched general population). During an observation period of 394 289 patient-years, 3824 CHD patients died, and 31 017 patients experienced a combined event of all-cause mortality or emergency admission. On multivariable Cox proportional-hazard analysis, the presence of ISI [hazard ratio (HR): 2.14, P < 0.001] or documented IDS (HR: 1.77, P = 0.035) emerged as independent predictors of all-cause mortality. In addition, ISI and confirmed IDS were associated with a significantly higher risk of emergency hospital admission (P = 0.01 for both on competing risk analysis) during follow-up. CONCLUSION: Limited immune competence is common in CHD patients and associated with an increased risk of morbidity and mortality. This highlights the need for structured IDS screening and collaboration with immunology specialists as immunodeficiency may be amenable to specific therapy. Furthermore, studies are required to assess whether IDS patients might benefit from intensified antibiotic shielding or tailored prophylaxis.

A framework of deep learning networks provides expert-level accuracy for the detection and prognostication of pulmonary arterial hypertension.

AIMS: To test the hypothesis that deep learning (DL) networks reliably detect pulmonary arterial hypertension (PAH) and provide prognostic information. METHODS AND RESULTS: Consecutive patients with PAH, right ventricular (RV) dilation (without PAH), and normal controls were included. An ensemble of deep convolutional networks incorporating echocardiographic views and estimated RV systolic pressure (RVSP) was trained to detect (invasively confirmed) PAH. In addition, DL-networks were trained to segment cardiac chambers and extracted geometric information throughout the cardiac cycle. The ability of DL parameters to predict all-cause mortality was assessed using Cox-proportional hazard analyses. Overall, 450 PAH patients, 308 patients with RV dilatation (201 with tetralogy of Fallot and 107 with atrial septal defects) and 67 normal controls were included. The DL algorithm achieved an accuracy and sensitivity of detecting PAH on a per patient basis of 97.6 and 100%, respectively. On univariable analysis, automatically determined right atrial area, RV area, RV fractional area change, RV inflow diameter and left ventricular eccentricity index (P < 0.001 for all) were significantly related to mortality. On multivariable analysis DL-based RV fractional area change (P < 0.001) and right atrial area (P = 0.003) emerged as independent predictors of outcome. Statistically, DL parameters were non-inferior to measures obtained manually by expert echocardiographers in predicting prognosis. CONCLUSION: The study highlights the utility of DL algorithms in detecting PAH on routine echocardiograms irrespective of RV dilatation. The algorithms outperform conventional echocardiographic evaluation and provide prognostic information at expert-level. Therefore, DL methods may allow for improved screening and optimized management of PAH.

Reference Values for Wristband Accelerometry Data in Children Aged 6-11 Years of Age.

Objectives: Wristband activity trackers (accelerometers) could serve as a convenient monitoring tool to continuously quantify physical activity throughout the day. We aim to provide reference values for the use of these devices in healthy children. Methods: Children were recruited at a local school and provided with activity trackers (Fitbit Charge 2). Pupils were instructed to wear devices during all normal daytime activities over a period of 11-15 days. Demographic data, total number of daily steps and heart rate were recorded. In addition, all children/parents were asked to complete a questionnaire providing information about daily physical routine (mode of transport to school, sporting activities as well as sport club memberships). Results: Three hundred two children (54.6% boys; median age 8.7 years) participated in this prospective study. Median wearing time of the device was 12.1 h/day. Overall, the median daily total step count was 12,095. Median step counts/day were significantly higher in boys compared to girls (13,015 vs. 11,305 steps/day; p < 0.0001). In addition, step counts were significantly higher during the week, compared to weekend days. The effect of age on daily step count was found to be non-linear: the total daily step count increased from 6 to 8.5 years of age, while older children (aged >8.5 years) had lower step counts compared to the younger children. Significant predictors of the daily step count were male gender (+1,324.9 steps, p = 0.0008), mode of transportation to school (walking, bicycle, scooter: +865.5 steps p = 0.049), active membership in a sports club (+1,324.9 steps/day, p = 0.0008), and number of structured units of physical exercise performed (+336.5/per 45 min, p < 0.0001). Severe obesity was associated with a significant reduction in total daily step count (-3037.7 steps/day, p = 0.015). Conclusion: Our prospective cohort study of healthy school children provides reference values for wristband accelerometers in normal individuals. In addition, it clarifies the effect of age, body weight and lifestyle on normal daily step counts in school children. This data should be helpful to judge the degree of physical limitation of patients compared to healthy peers.

Late outcome, therapy and systemic ventricular function in patients with a systemic right ventricle: data of the German National Register for Congenital Heart Defects.

BACKGROUND: Adults with systemic right ventricle have a significant risk for long-term complications such as arrhythmias or heart failure. METHODS: A nationwide retrospective study based on the German National Register for Congenital Heart Disease was performed. Patients with transposition of the great arteries after atrial switch operation or congenitally corrected TGA were included. RESULTS: Two hundred and eight-five patients with transposition of the great arteries after atrial switch operation and 95 patients with congenitally corrected transposition of the great arteries were included (mean age 33 years). Systolic function of the systemic ventricle was moderately or severely reduced in 25.5 % after atrial switch operation and in 35.1% in patients with congenitally corrected transposition. Regurgitation of the systemic atrioventricular valve was present in 39.5% and 43.2% of the cases, respectively. A significant percentage of patients also had a history for supraventricular or ventricular arrhythmias. However, polypharmacy of cardiovascular drugs was rare (4.5%) and 38.5 % of the patients did not take any cardiovascular medication. The amount of cardiovascular drugs taken was associated with NYHA class as well as systemic right ventricular dysfunction. Patients with congenitally corrected transposition were more likely to receive pharmacological treatment than patients after atrial switch operation. CONCLUSION: A significant portion of patients with systemic right ventricle suffer from a relevant systemic ventricular dysfunction, systemic atrioventricular valve regurgitation, and arrhythmias. Despite this, medication for heart failure treatment is not universally used in this cohort. This emphasises the need for randomised trials in patient with systemic right ventricle.

Frequency, Mortality, and Predictors of Adverse Outcomes for Endocarditis in Patients with Congenital Heart Disease: Results of a Nationwide Analysis including 2512 Endocarditis Cases.

BACKGROUND: Infective endocarditis (IE) represents a major complication in patients with congenital heart disease (CHD) and is associated with high morbidity and mortality. The aim of this study was to analyse the frequency and outcome of IE in contemporary CHD patients based on all IE hospital admissions in Germany over a 10-year period. METHODS: Based on data of all hospital admissions in Germany from 2009 to 2018, we identified all CHD cases with a diagnosis of IE. The data contained information on patient demographics, diagnoses, surgical procedures, and mortality. The primary endpoint of the study was endocarditis-associated mortality as well as major adverse events (defined as death or myocardial infarction, stroke, pulmonary embolism, sepsis, renal dialysis, resuscitation, or intubation). RESULTS: Overall, 309,245 CHD inpatient cases were included in the analysis (underlying heart defects of simple complexity 55%, moderate complexity 23%, and complex heart defects 22%, respectively). Of those, 2512 (0.8% of all inpatient cases) were treated for IE. The mortality rate of IE inpatient cases was 6% with a major adverse events rate of 46%, and 41.5% of cases required surgical intervention. The overall IE associated mortality was lower in adult CHD cases compared to the 153,242 in adult IE cases without CHD (7.1% vs. 16.1%, p < 0.001). After adjustments using multivariable logistic regression analysis, the presence or complexity of CHD was not associated with the outcomes. Meanwhile, age, male sex, and co-morbidities emerged as significant predictors of adverse outcomes. CONCLUSIONS: IE accounts for a minority of CHD related hospitalizations but remains a deadly disease, and major adverse events are common in this setting. Due to different demographic and co-morbidity spectrums, adult CHD patients tend to have better survival prospects when compared to non-CHD IE patients. Acquired co-morbidities emerged as the main predictors of adverse outcomes.

Maternal and neonatal complications in women with congenital heart disease: a nationwide analysis.

AIMS: The aim of this study was to provide population-based data on maternal and neonatal complications and outcome in the pregnancies of women with congenital heart disease (CHD). METHODS AND RESULTS: Based on administrative data from one of the largest German Health Insurance Companies (BARMER GEK, ∼9 million members representative for Germany), all pregnancies in women with CHD between 2005 and 2018 were analysed. In addition, an age-matched non-CHD control group was included for comparison and the association between adult CHD (ACHD) and maternal or neonatal outcomes investigated. Overall, 7512 pregnancies occurred in 4015 women with CHD. The matched non-CHD control group included 6502 women with 11 225 pregnancies. Caesarean deliveries were more common in CHD patients (40.5% vs. 31.5% in the control group; P < 0.001). There was no excess mortality. Although the maternal complication rate was low in absolute terms, women with CHD had a significantly higher rate of stroke, heart failure and cardiac arrhythmias during pregnancy (P < 0.001 for all). Neonatal mortality was low but also significantly higher in the ACHD group (0.83% vs. 0.22%; P = 0.001) and neonates to CHD mothers had low/extremely low birth weight or extreme immaturity (<0.001) or required resuscitation and mechanical ventilation more often compared to non-CHD offspring (P < 0.001 for both). On multivariate logistic regression maternal defect complexity, arterial hypertension, heart failure, prior fertility treatment, and anticoagulation with vitamin K antagonists emerged as significant predictors of adverse neonatal outcome (P < 0.05 for all). Recurrence of CHD was 6.1 times higher in infants to ACHD mothers compared to controls (P < 0.0001). CONCLUSIONS: This population-based study illustrates a reassuringly low maternal mortality rate in a highly developed healthcare system. Nevertheless, maternal morbidity and neonatal morbidity/mortality were significantly increased in women with ACHD and their offspring compared to non-ACHD controls highlighting the need of specialized care and pre-pregnancy counselling.

Secundum Type Atrial Septal Defect in Patients with Trisomy 21-Therapeutic Strategies, Outcome, and Survival: A Nationwide Study of the German National Registry for Congenital Heart Defects.

(1) Secundum type atrial septal defect (ASD II) is usually considered a relatively benign cardiac lesion amenable to elective closure at preschool age. Patients with trisomy 21 (T21), however, are known to have a higher susceptibility for pulmonary vascular disease (PVD). Therefore, T21 children may present with clinical symptoms earlier than those without associated anomalies. In addition, early PVD may even preclude closure in selected T21 patients. (2) We performed a retrospective analysis of the German National Register for Congenital Heart Defects including T21 patients with associated isolated ASD II. We report incidence, demographics, therapeutic strategy, outcome, and survival of this cohort. (3) Of 46,628 patients included in the registry, 1549 (3.3%) had T21. Of these, 156 (49.4% female) had an isolated ASD II. Fifty-four patients (34.6%) underwent closure at 6.4 ± 9.9 years of age. Over a cumulative follow-up (FU) of 1148 patient-years, (median 7.4 years), only one patient developed Eisenmenger syndrome and five patients died. Survival of T21 patients without PVD was not statistically different to age- and gender-matched controls from the normal population (p = 0.62), whereas children with uncorrected T21/ASD II (including patients with severe PVD, in whom ASD-closure was considered contraindicated) showed a significantly higher mortality. (4) The outcome of T21-patients with ASD II and without PVD is excellent. However, PVD, either precluding ASD-closure or development of progressive PVD after ASD-closure, is associated with significant mortality in this cohort. Thus T21 patients with ASD II who fulfill general criteria for closure and without PVD should be offered defect closure analogous to patients without T21.

Ventricular assist devices in paediatric cardiomyopathy and congenital heart disease: An analysis of the German National Register for Congenital Heart Defects.

BACKGROUND: Ventricular assist devices (VAD) are increasingly used in patients with end-stage heart failure due to acquired heart disease. Limited data exists on the use and outcome of this technology in children. METHODS: All children (<18 years of age) with VAD support included in the German National Register for Congenital Heart Defects were identified and data on demographics, underlying cardiac defect, previous surgery, associated conditions, type of procedure, complications and outcome were collected. RESULTS: Overall, 64 patients (median age 2.1 years; 45.3% female) receiving a VAD between 1999 and 2015 at 8 German centres were included in the analysis. The underlying diagnosis was congenital heart disease (CHD) in 25 and cardiomyopathy in 39 children. The number of reported VAD implantations increased from 13 in the time period 2000-2004 to 27 implantations in the time period 2010-2014. During a median duration of VAD support of 54 days, 28.1% of patients experienced bleeding complications (6.3% intracerebral bleeding), 14.1% thrombotic (10.9% VAD thrombosis) and 23.4% thromboembolic complications (including cerebral infarction in 18.8% of patients). Children with cardiomyopathy were more likely to receive a cardiac transplantation (79.5% vs. 28.0%) compared to CHD patients. Survival of cardiomyopathy patients was significantly better compared to the CHD cohort (p < 0.0001). Multivariate Cox-proportional analysis revealed a diagnosis of CHD (hazard ratio [HR] 4.04, p = 0.001), age at VAD implantation (HR 1.09/year, p = 0.04) and the need for pre-VAD extracorporeal membrane oxygenation (ECMO) support (HR 3.23, p = 0.03) as independent predictors of mortality. CONCLUSIONS: The uptake of VAD therapy in children is increasing. Morbidity and mortality remain high, especially in patients with congenital heart disease and those requiring ECMO before VAD implantation.

Update from the World Symposium on Pulmonary Hypertension 2018: does the new hemodynamic definition of pediatric pulmonary hypertension have an impact on treatment strategies?

Pediatric pulmonary arterial hypertension (PAH) is a progressive life-threatening disease of the pulmonary vasculature and is defined as an elevation of the mean pulmonary arterial pressure. Before the 6th World Symposium on Pulmonary Hypertension (WSPH) in 2018, pulmonary hypertension (PH) used to be defined as a mean pulmonary artery pressure (mPAP) of ≥25 mmHg. On the WSPH a revised hemodynamic definition of PH was introduced lowering the threshold for a normal mPAP from <25 to <21 mmHg. The Pediatric Task Force chose to follow this newly proposed definition of PH in order to speak a uniform language and facilitate transition to adult services. In this opinion paper we discuss the rationale behind the new PH definition and the impact on pediatric PH. We conclude, that to date, there is no evidence in children, suggesting that this decrease of threshold for PH warrants any further measures than clinical outpatient-follow-up. Hitherto, the new definition does not impact on currently applicable treatment strategies in children with PH.

Cardiac catheterization in pediatric pulmonary hypertension: a systematic and practical approach.

Significant progress in the understanding of the etiology, epidemiology, pathobiology and prognosis of pulmonary hypertension (PH) has been made over the last years. Especially in the pediatric patient population the etiology of PH is very heterogeneous. Nevertheless, the most recent change of the definition of PH to a mean pulmonary artery pressure (mPAP) >20 mmHg has been accepted by pediatricians for uniformity and concordance with adult physicians. Based on the diverse underlying medical conditions leading to PH, a comprehensive and systematic approach for diagnosis and treatment is mandatory. Cardiac catheterization remains the gold standard for invasive assessment and acute vasoreactivity testing (AVT) additionally providing detailed information about nature of PH. In most patients repeat cardiac catheterization may be helpful for evaluation of response to targeted PH treatment, risk stratification and indication for lung transplantation. However, the information and results taken from cardiac catheterization should be interpreted by experienced investigators only who are familiar with confounding factors that may influence the results. Here we provide an overview of current recommendations for invasive hemodynamic evaluation in pediatric PH. We point out different patient scenarios and provide a structured approach for AVT and response interpretation.

A guide to echocardiographic assessment in children and adolescents with pulmonary hypertension.

While the current definition of pulmonary hypertension (PH) is still based on haemodynamic variables, transthoracic echocardiography is the most important diagnostic clinical tool for the first assessment and evaluation of a patient, in whom PH is suspected. In addition, it is the most important clinical modality in long term follow-up and the utility of echocardiography has widely been demonstrated in patients with PH. Echocardiography not only reveals the underlying cardiac morphology and diagnosis of any associated cardiac defects. In most patients with PH right ventricular (RV) pressure estimation is feasible. In addition, ventricular systolic and diastolic function, as well as ventricular-ventricular interactions of both ventricles can be assessed by using echocardiography. Maximizing the use of echocardiography by reporting several measures to gain information and quantitatively describe the parameters, that are linked to prognosis, seem particularly appealing in these children, in whom other advanced imaging modalities requiring anaesthesia is associated with a considerable risk. Herein we provide a practical approach and a concise and clinically applicable echocardiographic guidance and present basic variables, which should be obtained at any assessment. Moreover, we present additional advanced echocardiographic measures, that can be applied in a research or clinical setting when progressive PH needs a deeper insight to assess heart function, estimation of pulmonary artery pressures among others, by echocardiography. Finally, clinically relevant studies in view of the prognostic properties with a focus on the most important echocardiographic variables in pediatric PH are summarized.

Treatment of adults with Eisenmenger syndrome-state of the art in the 21st century: a short overview.

Eisenmenger syndrome (ES) develops in association with unrepaired, non-restrictive cardiac shunt lesions at the atrial, ventricular or arterial level over time. In developed countries, cardiac defects are being operated on in a timely manner, before pulmonary vascular disease develops. However, with rising immigration from underserved countries, we increasingly see patients with shunt lesions, that are not amenable for repair as pulmonary vascular disease has already established. ES describes a symptom complex and patients present with heterogeneous problems involving many organ systems (multisystem disorder). Care in tertiary specialist cardiac centers with access to multidisciplinary subspecialities is required. Central cyanosis with secondary erythrocytosis is one of the key features of patients with ES. Clinical consequences of longstanding hypoxia can lead to other organ complications, that involve other organs than the heart alone. Although ES patients have a better prognosis compared to other patients with pulmonary arterial hypertension, ES grossly affects quality of life and morbidity is frequent. Follow-up and care at specialist congenital heart disease centers is highly recommended to prevent, to early diagnose and to timely manage complications of ES. This is necessary to maintain functional capacity, decrease morbidity and increase life expectancy for these vulnerable patients. The leading reasons for mortality are sudden cardiac death, progressive heart failure, and infectious diseases. Various factors have been shown to be associated with mortality like decreased arterial oxygen saturation, functional class, impaired exercise tolerance, syncopal events, iron deficiency, presence of pre-tricuspid shunts, arrhythmias, increased (NT-pro) brain natriuretic peptide, echocardiographic variables of right ventricular dysfunction and hospitalization for heart failure. Although to date there is no causal therapy to reverse pulmonary vascular disease, a greater armamentarium of targeted therapies is available, which have been shown to be beneficial in patients with ES.

Against all odds-late repair of multiple shunt lesions in a patient with Down syndrome: a case report.

BACKGROUND: Children with congenital heart defects (CHD) usually undergo elective surgical repair of haemodynamically relevant shunt lesions within the first year of life. Due to susceptibility for pulmonary arterial hypertension (PAH) in patients with Down syndrome, repair is usually aimed for no later than 6 months of life. However, with rising immigration from developing countries to Europe, more patients with unrepaired CHD are diagnosed at a later age. Anatomical repair may be precluded, when advanced pulmonary vascular disease has been established. CASE SUMMARY: We report a 39-month-old male patient with Down syndrome with a large non-restrictive perimembranous ventricular septal defect, a large patent ductus arteriosus, and a secundum-type atrial septal defect with a prominent left-to-right shunting. Haemodynamic assessment revealed only a mild increase of pulmonary artery pressures (mPAP) with low pulmonary vascular resistance index (PVRi). Vasodilator testing led to a further increase of the left-to-right shunt and decrease of PVRi, suggesting operability. After careful consideration, the patient underwent complete surgical repair with a good post-operative clinical outcome. Cardiac catheterization 6 months after corrective repair showed a normal mPAP. No signs of PAH have been detected in the medium-term follow-up. DISCUSSION: Expertise, increased physician awareness, and a thorough pre-operative multidisciplinary evaluation are paramount to determine the best treatment approach for patients, who may present late with multiple shunts, and-in our case-underlying Down syndrome. Long-term close post-surgical follow-up in an expert centre is warranted to promptly diagnose and treat a possible late presentation of PAH appropriately.

Optimizing Care for Adults with Congenital Heart Disease: Results of a Conjoint Analysis Based on a Nationwide Sample of Patients Included in the German National Register.

(1) Background: Congenital heart disease (CHD) requires lifelong specialized care. Failure to follow up and gaps in care are common in this group and lead to increased morbidity/mortality. We evaluated patients' perceived needs and expectations regarding specialized care using state-of-the-art statistical and market research techniques based on a nationwide sample of CHD patients. (2) Methods: A random sample of adults with CHD registered in the German National Register for Congenital Heart Defects were invited to answer an adaptive online questionnaire based on the conjoint analysis (CA) technique. CA determines the relative importance of various aspects of health care provision and allows individuals to trade between characteristics, thus recognizing limited resources. (3) Results: 637 patients participated (mean age 33.8 ± 12.6 years; 55.6% female; disease complexity: simple defect 12.6%, moderate complexity 40.3%, complex CHD 40.2%) in the analysis. Patients assigned the highest relative importance to aspects of patient-physician communication, physician qualifications, waiting time, medical care, and medical equipment. Comfort-related aspects such as driving time or hotel aspects of care received much lower scores. We identified four well-defined clusters of patients with differing expectation patterns: (i) time sensitive patients; (ii) excellence seeking patients; (iii) continuity seekers, and (iv) support seeking patients. (4) Conclusions: Adult CHD patients rank effective patient-physician interaction and communication as the most important factors. As we identified significant heterogeneity between CHD patients, centers should cater for individual preferences and integrate individual needs into treatment plans to prevent failure to follow up and ensure patient compliance.