Adult Congenital Heart Disease Research Articles

Factors associated with long-term outcomes in adult congenital heart disease patients with infective endocarditis: a 16-year tertiary single-centre experience.

Studies concerning factors associated with long-term outcomes in adult congenital heart disease (ACHD) patients after infective endocarditis (IE) are scarce, while IE-related mortality in these patients remains a burden. We evaluated the factors associated with long-term survival in ACHD patients admitted for IE. We performed a retrospective single-centre study of all ACHD patients admitted for IE to a tertiary cardiothoracic centre between 1999 and 2015. Underlying ACHD, detailed echocardiographic and clinical data, surgical treatment and long-term follow-up were analysed. We identified 151 ACHD patients admitted due to 176 episodes IE with 30-day, 6-month and 1-, 5- and 10-year survival of 95.4%, 92.7%, 92.7%, 84.7% and 75.6%, respectively. In a multivariable analysis, adjusted estimated probability of death was consistently higher after an IE episode among patients with complex as compared to simple/moderate ACHD: 10.6% vs 2.4% at 30 days, 15.0% vs 3.4% at 6 months and 1 year, 30.4% vs 7.8% at 5 years and 44.9% vs 13.1% at 10 years. Risk of death was higher among patients with prosthetic valve in comparison with those without (risk ratios 1.73-1.92). Surgical treatment was required in 76 (43.2%) episodes with 30-day mortality of 3.9%. Risk of death appeared to be lower than in the conservatively treated subgroup (risk ratios 0.71-0.78). We demonstrated satisfactory long-term survival in ACHD patients who were treated for IE in a tertiary cardiothoracic centre. Early mortality tended to be lower in the surgically treated subgroup. Factors negatively associated with long-term survival were complex ACHD and presence of prosthetic valve.

The diagnostic utility of cardiac imaging (echocardiogram and cardiac magnetic resonance) in covid 19 patients and cardiac complications: retrospective cohort study in Saudi Arabia

Objectives: Coronavirus disease (COVID-19) continues to cause considerable morbidity and mortality worldwide. The complication in patients with severe COVID-19 disease include arrhythmias, peri-myocarditis (PM), and heart failure (HF). The important role of echocardiogram (ECHO) and cardiac MRI (CMRI) in the diagnosis of myocarditis in COVID-19 patients in Saudi Arabia has not been assessed. The objective is to assess the diagnostic value of ECHO and CMRI and define phenotypes patterns in the COVID 19 subgroup. Methods: In this retrospective study, adults with suspected COVID-19 presented with dyspnea and cardiovascular comorbidities were studied between January 2021 and December 2021. We collected 329 patients, (LVEF by ECHO was 44±11%). Fifty-two percent (173/329), had HF (HFrEF or HFpEF), thirty-six percent presented with acute coronary syndrome ACS (120/329), and four percent had adult congenital heart disease (ACHD). CMRI was performed in 160 patients (LVEF is 40±11%), and fifty-two were COVID-19 positive. Based on the Lake Louis criteria, CMRI was performed at siemens 3 T can identify myocardial function and damage using Late Gadolinium Enhancement (LGE) images phenotypes pattern were described as normal, ischemic, or nonischemic (peri-myocarditis). LVEF was divided by CMRI as (EF≥50 or EF<50%). Comparison of Cardiac MRI LGE in the COVID 19 subgroups according to the LVEF was analyzed. The average time interval from diagnosis to CMRI was 4-8weeks. Results: Sixty percent of patients (221/329) were confirmed COVID-19 infection, the mean age is 54±13 years. Ten patients were diagnosed with pulmonary embolism (2/10 were ACHD). Peri-myocarditis patterns were found in sixty percent of COVID-19 patients (31/52), five percent (3/52) had an ischemic pattern, and thirty- five percent (18/52) had normal LGE (X2 =21.8 and P value<0.001). However, in COVID-19 negative patients, Eighty percent (85/108) had an ischemic pattern, and twenty percent (23/108) had normal LGE. (X2 =37.7 and P value<0.001). Conclusion: In this observational study, CMRI confirms its high diagnostic tool in evaluating myocarditis activity. In COVID-19 patients, two third of the population were found to have peri-myocarditis, with half of them reporting LVEF was ≥50 %. (X2 =67.1 and P value<0.001).

Determining the incidence of heart malformations in neonates: A novel and clinically approved solution.

Screening for critical congenital heart defects should be performed as early as possible and is essential for saving the lives of children and reducing the incidence of undetected adult congenital heart diseases. Heart malformations remain unrecognized at birth in more than 50% of neonates at maternity hospitals. Accurate screening for congenital heart malformations is possible using a certified and internationally patented digital intelligent phonocardiography machine. This study aimed to assess the actual incidence of heart defects in neonates. A pre-evaluation of the incidence of unrecognized severe and critical congenital heart defects at birth in our well-baby nursery was also performed. We conducted the Neonates Cardiac Monitoring Research Project (ethics approval number: IR-IUMS-FMD. REC.1398.098) at the Shahid Akbarabadi Maternity Hospital. This study was a retrospective analysis of congenital heart malformations observed after screening 840 neonates. Using a double-blind format, 840 neonates from the well-baby nursery were randomly chosen to undergo routine clinical examinations at birth and digital intelligent phonocardiogram examinations. A pediatric cardiologist performed echocardiography for each neonate classified as having abnormal heart sounds using an intelligent machine or during routine medical examinations. If the pediatric cardiologist requested a follow-up examination, then the neonate was considered to have a congenital heart malformation, and the cumulative incidence was calculated accordingly. The incidence of heart malformations in our well-baby nursery was 5%. Furthermore, 45% of heart malformations were unrecognized in neonates at birth, including one critical congenital heart defect. The intelligent machine interpreted innocent murmurs as healthy heart sound. We accurately and cost-effectively screened for congenital heart malformations in all neonates in our hospital using a digital intelligent phonocardiogram. Using an intelligent machine, we successfully identified neonates with CCHD and congenital heart defects that could not be detected using standard medical examinations. The Pouya Heart machine can record and analyze sounds with a spectral power level lower than the minimum level of the human hearing threshold. Furthermore, by redesigning the study, the identification of previously unrecognized heart malformations could increase to 58%.

Discordance between 2D and 4D flow in the assessment of pulmonary regurgitation severity: a right ventricular remodeling follow-up study.

Pulmonary regurgitation (PR) is common in adult congenital heart disease (ACHD). 2D phase contrast MRI is the reference method for the quantification of PR and helps in the decision of pulmonary valve replacement (PVR). 4D flow MRI can be an alternative method to estimate PR but more validation is still needed. Our purpose was to compare 2D and 4D flow in PR quantification using the degree of right ventricular remodeling after PVR as the reference standard. In 30 adult patients with a pulmonary valve disease recruited between 2015 and 2018, PR was assessed using both 2D and 4D flow. Based on the clinical standard of care, 22 underwent PVR. The pre PVR estimate of PR was compared using the post-operative decrease in right ventricle end-diastolic volume on follow-up exam as reference. In the overall cohort, regurgitant volume (Rvol) and regurgitant fraction (RF) of PR measured by 2D and 4D flow were well correlated but with moderate agreement in the overall cohort (r = 0.90, mean diff. -14 ± 12.5mL; and r = 0.72, mean diff. -15 ± 13%; all p < 0.0001). Correlations between Rvol estimates and right ventricle end-diastolic volume decrease after PVR was higher with 4D flow (r = 0.80, p < 0.0001) than with 2D flow (r = 0.72, p < 0.0001). In ACHD, PR quantification from 4D flow better predicts post-PVR right ventricle remodeling than that from 2D flow. Further studies are needed to evaluate the added value of this 4D flow quantification for guiding replacement decision. • Using 4D flow MRI allows a better quantification of pulmonary regurgitation in adult congenital heart disease than 2D flow when taking right ventricle remodeling after pulmonary valve replacement as a reference. • A plane positioned perpendicular to the ejected flow volume as allowed by 4D flow provides better results to estimate pulmonary regurgitation.

Diagnostic Utility of a Transcatheter Bubble Test for Platypnea-Orthodeoxia Syndrome in Adult Congenital Heart Disease With Chronic Obstructive Pulmonary Disease.

Diagnostic Utility of a Transcatheter Bubble Test for Platypnea-Orthodeoxia Syndrome in Adult Congenital Heart Disease With Chronic Obstructive Pulmonary Disease.

Univentricular hearts not undergoing Fontan: the type of palliation matters

Introduction and objectivesThere is scarce information on patients with single ventricle physiology (SVP) and restricted pulmonary flow not undergoing Fontan circulation. This study aimed to compare survival and cardiovascular events in these patients according to the type of palliation. MethodsSVP patient data were obtained from the databases of the adult congenital heart disease units of 7 centers. Patients completing Fontan circulation or developing Eisenmenger syndrome were excluded. Three groups were created according to the source of pulmonary flow: G1 (restrictive pulmonary forward flow), G2 (cavopulmonary shunt), and G3 (aortopulmonary shunts±cavopulmonary shunt). The primary endpoint was death. ResultsWe identified 120 patients. Mean age at the first visit was 32.2 years. Mean follow-up was 7.1 years. Fifty-five patients (45.8%) were assigned to G1, 30 (25%) to G2, and 35 (29.2%) to G3. Patients in G3 had worse renal function, functional class, and ejection fraction at the first visit and a more marked ejection fraction decline during follow-up, especially when compared with G1. Twenty-four patients (20%) died, 38 (31.7%) were admitted for heart failure, and 21 (17.5%) had atrial flutter/fibrillation during follow-up. These events were more frequent in G3 and significant differences were found compared with G1 in terms of death (HR, 2.9; 95%CI, 1.14-7.37; P=.026) and atrial flutter/fibrillation (HR, 2.9; 95%CI, 1.11-7.68; P=.037). ConclusionsThe type of palliation in patients with SVP and restricted pulmonary flow not undergoing Fontan palliation identifies distinct profiles. Patients palliated with aortopulmonary shunts have an overall worse prognosis with higher morbidity and mortality.

High-sensitive troponin T and N-terminal pro-B-type natriuretic peptide independently predict survival and cardiac-related events in adults with congenital heart disease.

High-sensitive troponin T (hs-TnT), N-terminal pro-B-type natriuretic peptide (NT-proBNP), and C-reactive protein (CRP) are established prognostic biomarkers for cardiovascular (CV) morbidity and mortality and frequently used in symptomatic and/or hospitalized adults with congenital heart disease (ACHD). Their prognostic value in clinically stable ACHD has not yet been well established. This study investigates the predictive value of hs-TnT, NT-proBNP, and CRP for survival and CV events in stable ACHD. In this prospective cohort study, 495 outpatient ACHD (43.9 ± 10.0 years, 49.1% female) underwent venous blood sampling including hs-TnT, NT-proBNP, and CRP. Patients were followed up for survival status and the occurrence of CV events. Survival analyses were performed with Cox proportional hazards regression analysis and Kaplan-Meier curves. During a mean follow-up of 2.8 ± 1.0 years, 53 patients (10.7%) died or reached a cardiac-related endpoint including sustained ventricular tachycardia, hospitalization with cardiac decompensation, ablation, interventional catheterization, pacer implantation, or cardiac surgery. Multivariable Cox regression revealed hs-TnT (P = 0.005) and NT-proBNP (P = 0.018) as independent predictors of death or cardiac-related events in stable ACHD, whilst the prognostic value of CRP vanished after multivariable adjustment (P = 0.057). Receiver-operator characteristic curve analysis identified cut-off values for event-free survival of hs-TnT ≤9 ng/L and NT-proBNP ≤200 ng/L. Patients with both increased biomarkers had a 7.7-fold (confidence interval 3.57-16.40, P < 0.001) higher risk for death and cardiac-related events compared with patients without elevated blood values. Subclinical values of hs-TnT and NT-proBNP are a useful, simple, and independent prognostic tool for adverse cardiac events and survival in stable outpatient ACHD. German Clinical Trial Registry DRKS00015248.

Adult congenital heart disease update

In this issue of Current Problems in Pediatric and Adolescent Health Care, we discuss the field of Adult Congenital Heart Disease (ACHD) is addressed. Following a general overview of the subject provided, a more in-depth and focused review of the field provided by Dr. Curt Daniels (member of the Adult Congenital Heart Association National Conference Leadership Committee, Chair of the Adult Congenital Heart Association Accreditation Steering Committee and Co-Chair of the ACC, ACPC and ACHD Work Group). There is a section on the special medical concerns of women of child bearing age born with congenital heart disease. We pinpoint the role of cardiac CT and MR imaging in this expanding demographic and complete the volume with a review of management of the failing heart in ACHD. This issue will provide the reader with an understanding of the current state of ACHD, the optimal management of these patients and will enable the primary care physician to become a more effective partner in the inter-professional team vital for the high quality care of the patient with ACHD.

Incidence and clinical predictors of early and late complications of implantable cardioverter-defibrillators in adults with congenital heart disease.

The Implantable cardioverter-defibrillator (ICD) has been proven to improve survival in adults with congenital heart disease (ACHD), however it is associated with a high rate of complications. We aimed to quantify the incidence of early (≤3 months) and late (>3 months) complications (EC, LC) in ACHD patients implanted with an ICD and identify their clinical predictors. We retrospectively reviewed 207 patients who had ICD follow-up at Toronto General Hospital between 1996 and 2019. Most common diagnoses were Tetralogy of Fallot (32.4%), dextro-transposition of the great arteries (17.9%), congenital corrected transposition of the great arteries (13%). No intraprocedural complications were observed. Median follow up was 3.4 years (0.1-23). 24 patients (12%) developed EC (4 hematomas, 20 lead dislodgments). A total of 56 LC occurred (46% lead failure, 21% infection, 11% prophylactic lead extraction, 9% neurologic pain, 9% erosion, 4% other) with an incidence rate of LC of 18% per 5 person-years. Anatomic complexity (odds ratio 2.9,p=0.02) and CRTD implant(OR 2.5,p=0.04) were associated with EC. Survival free from LC was 92%, 86%, 65% respectively after 1,5 and 10 years. Presence of legacy leads (hazard ratio 2.9,p=0.006) and subpulmonary ejection fraction (5% increase, HR 1.35,p=0.031) were associated with LC. ACHD patients at risk of SCD continue to benefit from newer device technology. However, these patients-particularly those with greater anatomic and device complexity-remain at increased risk of developing complications over their lifetime. Given the life expectancy of this population, careful consideration needs to be given when a device for primary prevention is being contemplated.

Short-term Prognostic Value of Heart Failure Diagnosis in a Contemporary Cohort of Patients With Adult Congenital Heart Disease.

Heart failure (HF) is the primary cause of premature death in adult congenital heart disease (ACHD). This study aimed to describe the impact of a HF diagnosis on short-term prognosis and to investigate the added prognostic value of an HF diagnosis to the ACHD Anatomic and Physiologic classification (ACHD-AP). This study included 3995 patients followed in a tertiary care centre (last follow-up after January 1, 2010). Survival curves were plotted, and predictors of the primary end point (death, heart transplantation, or ventricular assist device [VAD]) were identified with the use of Cox proportional hazard models and compared with the use of Harrell's C-statistic. Mean age at baseline was 35.7 ± 13.3 years. The prevalence of ACHD-HF was 6.4%. During a median follow-up of 3.1 years (IQR 2.1-3.6 years), 27.3% of ACHD-HF patients reached the primary end point, compared with 1.4% of ACHD patients without HF. Event-free survivals were 78.3%, 61.9%, and 57.5% at 1, 3, and 5 years in ACHD-HF patients, compared with 99.3%, 98.3%, and 98.0% in ACHD patients without HF (P < 0.001). An HF diagnosis (HR 6.9, 95% CI 4.3-11.2) and the physiologic classification (HR 2.6, 95% CI 1.9-3.7) were independently associated with the primary end point. The addition of HF to the ACHD-AP classification yielded a Harrell's C-index of 0.8631, providing a significant improvement over the ACHD-AP classification alone (P= 0.0003). The risk of mortality, transplantation, or VAD is increased in ACHD-HF patients. An HF diagnosis appears to be a valuable prognostic marker in addition to the ACHD-AP classification.

Myocardial support of the failing heart in adult congenital heart disease

Myocardial support of the failing heart in adult congenital heart disease

The development of adult congenital heart disease care in the United States

The development of adult congenital heart disease care in the United States

Definitions of resilience and resilience resource use as described by adults with congenital heart disease

Adult congenital heart disease (ACHD) is a lifelong illness that presents ongoing challenges to quality of life. Fostering personal resilience resources to sustain well-being can enhance patients' psychosocial health. We aimed to describe patients' resilience experiences: how they understand, develop, and utilize resilience resources in managing ACHD. We conducted a qualitative study of patients with ACHD. Participants were recruited using maximum variation sampling. Individual, semi-structured interviews were conducted June 2020 to August 2021. We queried approaches to managing ACHD-related stress and experiences with resilience and analyzed responses with thematic analysis. Participant (N = 25) median age was 32 years (range 22-44); 52% identified as female and 72% non-Hispanic white. Participants' anatomic ACHD was moderate (56%) or complex (44%); physiologically, 76% were functional class C or D. Participants described various resilience resources, which map to an established resilience framework: 1) internal resources: maintaining positivity, self-directed activity, and setting goals; 2) external resources: social support; 3) existential resources: purpose, gratitude, and cultivating health. Even among participants who reported feeling unfamiliar (8/25) with the term "resilience," all participants shared experiences reflecting resilience developed while living with ACHD. ACHD-relevant resilience resources may help patients and clinicians navigate ACHD-related stress and promote psychosocial well-being.

Assessing Risk Factors for Prolonged Intensive Care Unit Stay After Surgery for Adult Congenital Heart Disease: A Study From a Lower-Middle-Income Country.

Background Prolonged post-surgery intensive care unit (ICU) stay for congenital heart disease (CHD) has been explored in the pediatric population. However, there is limited data for adult CHD (ACHD), also called grown-up congenital heart (GUCH) disease, especially in low-resource countries where intensive care beds are scarce. This study identifies factors associated with prolonged ICU stay following surgery for ACHD in Pakistan, a lower-middle-income country (LMIC). Methods This retrospective study included all adult patients (⩾18 years) who underwent cardiac surgery with cardiopulmonary bypass for their CHD from 2011-2016 at a tertiary-care private hospital in Pakistan. Prolonged ICU stay was defined as stay >6 days (75th percentile). Regression analysis was used to explore risk factors of prolonged ICU stay. Results A total of 166 patients (53.6% males) with a mean age of 32.05 ± 12.11 years were included. Atrial septal defect repair was the most common surgery (42.2%). Most patients were categorized as Risk Adjustment for Congenital Heart Surgery 1 (RACHS-1) Category 1 (51.8%) and Category 2 (30.1%). Forty-three of 166 patients (25.9%) experienced prolonged ICU stay. Complications occurred in 38.6% of patients postoperatively, with the most common being acute kidney injury (29.5%). On multivariable logistic regression adjusted for age, gender, and RACHS-1 categories, intraoperative inotrope score, cardiopulmonary bypass time, aortic cross-clamp time duration of mechanical ventilation, and postoperative acute kidney injury (AKI) were associated with prolonged ICU stay. Conclusion Surgeons managing ACHD in LMICs must strive for shorter operative durations and the judicious use of intraoperative inotropes in addition to anticipating and promptly managing postoperative complications such as AKI, to minimize ICU stay in countries where intensive care beds are a scarce resource.

Abstract P632: The Ballana Heart Study: Preliminary Results

Introduction: There are considerable ethnic variations in the incidence and severity of cardiovascular diseases (CVD). To date, there have been very few studies from Africa and the MENA region and none that have focused on CVD. Ballana Heart Study (BHS) is a prospective cohort study of Egyptian Nubian population who live in the Ballana village (29,000 inhabitants) in the south of Egypt. Aim: Defining the cardiovascular phenotype, genotype and risk factors combined with follow-up visits for 30 years. Methods: Participants ≥18 years old after consenting go through a series of stations. A fasting venous blood sample is collected for diagnostic, genetic, molecular biomarkers testing and biobanking. Followed by a detailed questionnaire on demographic characteristics, anthropometry, vital signs, CVD risk factors and family history. Detailed clinical phenotyping including ECG, and Echocardiography. Follow-up visits and/or phone interviews occur every 1-3 years depending on their severity risk for a period of 30 years. Participants with evidence of CVD are referred to the Aswan Heart Centre for management. Results: A random sample of 1,200 representative households was obtained from official government bills. To date, 549 households were analyzed. The preliminary findings in the first 2000 participants showed a mean age of 46 years (62% females). The rates of consanguinity between spouses and parents were 45% and 39% respectively. Seventy percent were either obese or overweight (BMI ≥30 kg/m 2 .), 65% had LDL ≥ 100 mg/dL and 37% reported a family history of CVD. Investigation showed diabetes (23%), hypertension (20%), ischemic heart diseases (3.5%), only 15 patients (0.8%) had echocardiographic evidence of rheumatic heart disease (RHD) as defined by the world heart federation criteria and 7 patients (0.4%) were diagnosed with adult congenital heart disease. Conclusion: Population-based studies and community engagement have become an increasingly prevalent means of improving health. BHS is among the first population studies in Egypt and the MENA region to focus on CVD . BHS provides a phenotypically well-characterized population, the preliminary results has shown a very high incidence of consanguinity, obesity, diabetes, dyslipidemia and hypertension. Future research integration of OMICs data and other determinants of health is essential to advancements in precision medicine, CVD understanding and prevention. It is anticipated that this ongoing study will yield valuable information for formulating healthcare policy.

Catheter ablation for supraventricular arrhythmias in adults with congenital heart disease: Recurrence rates and predictors of acute procedural success

AimsTo define the cohort of adult congenital heart disease (ACHD) patients undergoing catheter ablation for supraventricular arrhythmia in a large tertiary centre, characterise outcomes, and determine factors associated with arrhythmia recurrence. MethodsSingle centre retrospective study of all catheter ablations for atrial arrhythmias in ACHD patients between September 2014 and October 2021. Patients were identified using a field search through a centralised database. Pre-specified clinical and procedural data of interest, and time from ablation to recurrence, were determined. Cox regression analyses were used to determine potential predictors of acute procedural success and arrhythmia recurrence. ResultsCardiac ablation for supraventricular arrhythmia was undertaken in 142 cases across 100 unique patients (median age 41, interquartile range 31–52), with 70 (49%) cases treated for macro-reentrant atrial tachycardia, 16 (11%) for focal atrial tachycardia, 19 (13%) for multifocal atrial tachycardia, 17 (12%) for atrial fibrillation, 7 (5%) for atrioventricular nodal reentrant tachycardia, and 8 (6%) for atrioventricular reentrant tachycardia; and 68 cases (48%) had recurrent arrhythmia with a median time to recurrence of 800 days. Multivariable analysis identified acute procedural success as an independent predictor of freedom from arrhythmia, and ablation for persistent atrial fibrillation as an independent predictor for recurrence of arrhythmia. ConclusionCatheter ablation for supraventricular arrhythmia in ACHD patients is safe and effective, with most patients achieving multiple arrhythmia-free months. Procedural success and arrhythmia mechanism are important predictors of recurrence.

Strategies to Aid Successful Transition of Adolescents with Congenital Heart Disease: A Systematic Review

The majority of patients born with congenital heart disease (CHD) need lifelong surveillance with serial clinical attendance and examinations. However, loss of follow-up (namely no documented follow-up for 3 years or more) is a recognised common problem since it is often related to remarkable worsening in the health of CHD patients with increased morbidity and mortality. Transitioning from paediatric to adult care has proven to be the most vulnerable point in the care of these subjects. As such, a systematic review was carried out to ask the following questions: What is the percentage of loss of follow-up worldwide? Are there regional fluctuations in the percentage? Is there a link between loss of follow-up and the complexity of CHD? What strategies should be employed to lower the risk of discontinuity in care? The most recent worldwide averaged loss of follow-up is 26.1%, with significant fluctuations across continents and countries. This percentage is even higher (31.9%) when one includes all untraceable patients, presuming that they are not having any cardiac follow-up. The highest discontinuity of care was reported in the USA and in patients with simple CHD. Planning the rules of transition seems to be one of the most reliable tools to minimise the number of CHD patients who are lost in transition. Recalling patients, with general practitioners who are crucial in readdressing half of the lost to follow-up CHD patients to adult CHD specialists, and a good relationship between paediatric cardiologists and the adult CHD team are two other valuable strategies in aiding successful transition.

Congenital heart diseases in patients above the age of 60 years. Results from the CSONGRAD Registry

Development in paediatric and interventional cardiology and cardiac surgery resulted in an increase in the number and average age of adult congenital heart disease patients. Comorbidities may appear with increased age leading to new challenges in the diagnosis and treatment of this complex group of patients. The aim of this study is to compare clinical and echocardiographic parameters in adult congenital heart disease patients under our care below the age of 40 years, between 40 and 59 years and above the age of 60 years. Data of a total of 346 patients were analyzed; 154 patients were under 40 years of age, 133 patients were between 40 and 59 years of age, and 59 patients were 60 years old or older. All adult congenital heart disease patients who underwent an outpatient examination were included in the study. As part of the physical examination, the New York Heart Association (NYHA) clinical classification of heart failure was determined, electrocardiography, echocardiography and 6-minute walk test were performed. Above the age of 40, the ratio of comorbidities increased, significantly more patients were classified into NYHA functional classes III-IV and the ratio of patients having a left ventricular ejection fraction below 55% significantly increased. The prevalence of arrhythmia was similar in all age groups, but an increasing tendency could be seen with age. There is a growing number of elderly adult congenital heart disease patients with comorbidities that play an important role in the management and in the outcome of congenital heart disease. New protocols and recommendations are required in the follow-up of these patients to help determining the optimal time for reoperation, intervention or heart transplantation. Orv Hetil. 2023; 164(6): 219-226.

Gene-Edited Human-Induced Pluripotent Stem Cell Lines to Elucidate DAND5 Function throughout Cardiac Differentiation.

(1) Background: The contribution of gene-specific variants for congenital heart disease, one of the most common congenital disabilities, is still far from our complete understanding. Here, we applied a disease model using human-induced pluripotent stem cells (hiPSCs) to evaluate the function of DAND5 on human cardiomyocyte (CM) differentiation and proliferation. (2) Methods: Taking advantage of our DAND5 patient-derived iPSC line, we used CRISPR-Cas9 gene-editing to generate a set of isogenic hiPSCs (DAND5-corrected and DAND5 full-mutant). The hiPSCs were differentiated into CMs, and RT-qPCR and immunofluorescence profiled the expression of cardiac markers. Cardiomyocyte proliferation was analysed by flow cytometry. Furthermore, we used a multi-electrode array (MEA) to study the functional electrophysiology of DAND5 hiPSC-CMs. (3) Results: The results indicated that hiPSC-CM proliferation is affected by DAND5 levels. Cardiomyocytes derived from a DAND5 full-mutant hiPSC line are more proliferative when compared with gene-corrected hiPSC-CMs. Moreover, parallel cardiac differentiations showed a differential cardiac gene expression profile, with upregulated cardiac progenitor markers in DAND5-KO hiPSC-CMs. Microelectrode array (MEA) measurements demonstrated that DAND5-KO hiPSC-CMs showed prolonged field potential duration and increased spontaneous beating rates. In addition, conduction velocity is reduced in the monolayers of hiPSC-CMs with full-mutant genotype. (4) Conclusions: The absence of DAND5 sustains the proliferation of hiPSC-CMs, which alters their electrophysiological maturation properties. These results using DAND5 hiPSC-CMs consolidate the findings of the in vitro and in vivo mouse models, now in a translational perspective. Altogether, the data will help elucidate the molecular mechanism underlying this human heart disease and potentiates new therapies for treating adult CHD.

Functional muscle power in the lower extremity in adults with congenital heart disease

BackgroundWe aimed to investigate functional muscular power in the lower extremity in adults with congenital heart disease (ACHD) and compare results with those of healthy persons. Secondarily, we set out to assess muscle power in relation to age, sex, and complexity of ACHD. MethodsBetween 2013 and 2019, 1126 patients attended the ACHD Unit of Sahlgrenska University Hospital/Östra and performed a test battery to determine physical fitness. Of these patients, 559 who performed the Timed-Stands Test (TST)—which requires 10 stands from a chair at the maximal possible speed—were included in the study. ResultsPatients with ACHD performed the TST slower than reference (14.6 s [12.0–18.0] vs. 11.7 s [9.8–14.3], p < 0.001). Men with ACHD performed the TST more rapidly or according to reference in 8% of patients aged 18–39 years, 21% of patients aged 40–65 years, and 55% of patients aged >65 years. Women with ACHD performed the TST more rapidly or according to reference in 21% of patients aged 18–39 years, 56% of patients aged 40–65 years, and 32% of patients aged >65 years. Men with ACHD performed the TST significantly faster than women with ACHD (p < 0.001). ConclusionsDecreased functional muscle power was observed in patients with ACHD and was most pronounced in patients aged 18–39 years. Decreased muscle power is important to detect and requires further assessment because it may contribute to an increased risk of falling and developing lifestyle related diseases.