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Congenital Heart Disease: Advances in Clinical Diagnosis and Management

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Cardiology".

Deadline for manuscript submissions: closed (30 November 2024) | Viewed by 11226

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Guest Editor
Department of Cardiology, Complejo Hospitalario Universitario Insular-Materno Infantil, Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain
Interests: congenital heart disease; pulmonary arterial hypertension; complexity; cyanosis
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Special Issue Information

Dear Colleagues,

In recent decades, there have been important advances in patients with congenital heart diseases that have allowed many of them to reach adulthood. In fact, currently 85% of neonates with congenital heart disease survive into adult life. These advances include genetic factors recognized as playing an important role in cardiovascular malformations, the detection of congenital heart disease using fetal echocardiography, anesthetic management, noninvasive imaging options, including cardiac magnetic resonance (CMR) imaging, cardiac computed tomography (CT), and nuclear scintigraphy, cardiovascular surgery, percutaneous interventions, intensive care, as well as improvements in pharmacotherapy. Also, the diagnosis and management of late complications in adult congenital heart disease patients is of paramount importance as residual and sequelae may progress in terms of severity with age, inducing late complications, such as arrhythmias, cardiac failure, renal and liver disease, thromboembolism, aortopathy, cyanosis, pulmonary arterial hypertension, infective endocarditis, or mental health and psychological problems due to the need to cope with stress, anxiety, or depression. In addition to this, we find that there are challenges faced by the parents of patients with congenital heart disease. The goal of this Special Issue is to provide a very contemporary and practical approach to congenital heart disease patients, from childhood to adulthood, through original research and review articles with the aim of updating the advances in clinical diagnosis and management in the field of congenital heart disease.

Dr. Efrén Martínez-Quintana
Guest Editor

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Keywords

  • congenital heart disease
  • fetal
  • childhood
  • adults
  • genetic
  • imaging
  • surgery
  • percutaneous
  • complications
  • psychological

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Published Papers (7 papers)

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Research

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11 pages, 892 KiB  
Article
A 6-Year Single Center Experience in Neonatal Aortic Arch Surgery with Whole-Body Perfusion: Showing the Perks by Strict Propensity Score Matching
by Isabelle Doll, Rodrigo Sandoval Boburg, Rafal Berger, Christian Jörg Rustenbach, Walter Jost, Jörg Michel, Harry Magunia and Christian Schlensak
J. Clin. Med. 2025, 14(3), 843; https://doi.org/10.3390/jcm14030843 - 27 Jan 2025
Viewed by 441
Abstract
Objectives: Perfusion strategy is crucial for the outcome of neonatal aortic arch surgery. This study investigates Whole-Body Perfusion to potentially improve postoperative outcomes for neonates, addressing a significant gap in current research. Methods: Retrospective analysis was conducted for neonates receiving aortic [...] Read more.
Objectives: Perfusion strategy is crucial for the outcome of neonatal aortic arch surgery. This study investigates Whole-Body Perfusion to potentially improve postoperative outcomes for neonates, addressing a significant gap in current research. Methods: Retrospective analysis was conducted for neonates receiving aortic arch reconstruction in our institution: 33 patients were treated with Antegrade Cerebral Perfusion (ACP, 2014–2017) and 61 patients with Whole-Body Perfusion (WBP, 2017–2022). After strict Propensity Score Matching, 20 patients were analyzed in each group. WBP consists of ACP and Lower Body Perfusion (LBP), achieved through a femoral arterial sheath. Results: Patients with WBP had a shorter time on Cardiopulmonary Bypass (86.65 ± 25.47 vs. 172.95 ± 60.12 min) and Cross-Clamp time (46.70 ± 18.48 vs. 91.30 ± 40.10 min) (p ≤ 0.001). Lactate at the time of reperfusion and after 24 h was lower in the WBP group (1.73 ± 0.63 vs. 4.29 ± 1.61, p < 0.001; 1.45 ± 0.57 vs. 2.09 ± 0.96 mmol/L, p = 0.026). Patients with WBP needed significantly fewer intraoperative transfusions of Red Blood Cells, Fresh Frozen Plasma and Platelets (p ≤ 0.001). WBP patients had a shorter time on ventilator (5.15 ± 4.05 vs. 10.00 ± 8.72 days, p = 0.01) and a higher urine output after 24 h (200.85 ± 100.87 vs. 118.10 ± 82.33 mL, p = 0.002). Conclusions: Patients treated with WBP received significantly fewer intraoperative transfusions and had a shorter time on extracorporeal circulation and ventilator. Furthermore, there was a trend for reduced multiorgan dysfunction. Full article
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15 pages, 1058 KiB  
Article
The Effect of Rehabilitation Therapy in Children with Intervened Congenital Heart Disease: A Study Protocol of Randomized Controlled Trial Comparing Hospital and Home-Based Rehabilitation
by Mónica Menéndez Pardiñas, Ángeles Sara Fuertes Moure, José Manuel Sanz Mengíbar, Fernando Rueda Núñez, Jorge Cabrera Sarmiento, Javier Martín-Vallejo, Rita Jácome Feijoó, Isabel Duque-Salanova and Juan Luis Sánchez González
J. Clin. Med. 2025, 14(3), 816; https://doi.org/10.3390/jcm14030816 - 26 Jan 2025
Viewed by 1622
Abstract
Background/Objectives: Children who suffer from congenital heart defects (CHDs) have a decreased ability to perform physical exercise and consequently have a decrease in their functional capacity. The main causes of this decrease in functional capacity have been related on the one hand to [...] Read more.
Background/Objectives: Children who suffer from congenital heart defects (CHDs) have a decreased ability to perform physical exercise and consequently have a decrease in their functional capacity. The main causes of this decrease in functional capacity have been related on the one hand to residual hemodynamic defects and, at the same time, to a situation of physical deconditioning due to inactivity, as well as problems in lung function, especially the presence of restrictive patterns that influence the amount of O2 insufflated (decreased maximum VO2), consequently generating a deficient maximum O2 consumption and maximum work rate. This represents an important prognostic value, since it constitutes an independent predictor of death and hospitalization. This study aims to determine the benefits obtained regarding respiratory function, exercise capacity, and quality of life after implementing a hospital-based cardio-respiratory rehabilitation program compared to a home-based Cardio-respiratory Physical Activity Program in patients with intervened CHDs. Methods: This is a randomized controlled trial on the effectiveness of two different rehabilitation programs on respiratory function, exercise capacity, and quality of life in patients with CHDs conducted at the Child Cardiology and Congenital Heart Disease Unit of the University Hospital Complex of A Coruña (CHUAC). There will be two groups: Cardio-respiratory rehabilitation group program conducted in a face-to-face format at the hospital (n = 26) and a study group that follows a home-based Cardio-respiratory Physical Activity Program (TELEA) (n = 26). The measurement variables will be respiratory function, forced vital capacity (FVC), forced expiratory volume in the first second (FEV1), maximum expiratory flow (PEF), the Tiffeneau index (FEV1 /FVC), forced expiratory flow (FEF25%, FEF50%, FEF75%, FEF25–75%), exercise capacity (peak VO2), and the quality of life of these children and their families. Conclusions: The implementation of cardiac and pulmonary rehabilitation programs in children with CHDs is essential to improve their quality of life, exercise tolerance, and socialization. These programs optimize life expectancy and promote integration, being crucial for their physical and emotional well-being Full article
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12 pages, 456 KiB  
Article
C-Reactive Protein and Long-Term Prognosis in Adult Patients with Congenital Heart Disease
by Efrén Martínez-Quintana, María Alcántara-Castellano, Marta Isabel García-Suárez and Fayna Rodríguez-González
J. Clin. Med. 2024, 13(8), 2199; https://doi.org/10.3390/jcm13082199 - 11 Apr 2024
Viewed by 1525
Abstract
Background/Objectives: Prognostic biomarkers may provide information about the patient’s cardiovascular outcomes. However, there are doubts regarding how high-sensitivity C-reactive protein (hs-CRP) impacts patients with congenital heart disease (CHD). The main objective is to evaluate whether high hs-CRP levels predict a worse prognosis [...] Read more.
Background/Objectives: Prognostic biomarkers may provide information about the patient’s cardiovascular outcomes. However, there are doubts regarding how high-sensitivity C-reactive protein (hs-CRP) impacts patients with congenital heart disease (CHD). The main objective is to evaluate whether high hs-CRP levels predict a worse prognosis in patients with CHD. Methods: Observational and prospective cohort study. Adult CHD patients and controls were matched for age and sex. Results: In total, 434 CHD patients (cases) and 820 controls were studied. The median age in the CHD patients was 30 (18–62) years and 256 (59%) were male. A total of 51%, 30%, and 19% of patients with CHD had mild, moderate, and great complexity defects, respectively. The body mass index [1.07 (1.01–1.13), p = 0.022)], diabetes mellitus [3.57 (1.07–11.97), p = 0.039], high NT-pro-BNP levels [1.00 (1.00–1.01), p = 0.021], and low serum iron concentrations [0.98 (0.97–0.99), p = 0.001] predicted high hs-CRP levels (≥0.3 mg/dL) in patients with CHD. During a follow-up time of 6.81 (1.17–10.46) years, major cardiovascular events (MACE) occurred in 40 CHD patients, showing the Kaplan–Meier test demonstrated a worse outcome among patients with hs-CRP levels above 0.3 mg/dL (p = 0.012). Also, hs-CRP showed statistical significance in the univariate Cox regression survival analysis. However, after adjusting for other variables, this significance was lost and the remaining predictors of MACE were age [HR 1.03 (1.01–1.06), p = 0.001], great complexity defects [HR 2.46 (1.07–5.69), p = 0.035], and an NT pro-BNP cutoff value for heart failure > 125 pg/mL [HR 7.73 (2.54–23.5), p < 0.001]. Conclusions: Hs-CRP obtained statistical significance in the univariate survival analysis. However, this significance was lost in the multivariate analysis in favor of age, CHD complexity, and heart failure. Full article
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Review

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22 pages, 4406 KiB  
Review
Advances in Diagnostic and Interventional Catheterization in Adults with Fontan Circulation
by Yassin Belahnech, Gerard Martí Aguasca and Laura Dos Subirà
J. Clin. Med. 2024, 13(16), 4633; https://doi.org/10.3390/jcm13164633 - 7 Aug 2024
Viewed by 1711
Abstract
Over the past five decades, the Fontan procedure has been developed to improve the life expectancy of patients with congenital heart defects characterized by a functionally single ventricle. The Fontan circulation aims at redirecting systemic venous return to the pulmonary circulation in the [...] Read more.
Over the past five decades, the Fontan procedure has been developed to improve the life expectancy of patients with congenital heart defects characterized by a functionally single ventricle. The Fontan circulation aims at redirecting systemic venous return to the pulmonary circulation in the absence of an impelling subpulmonary ventricle, which makes this physiology quite fragile and leads to several long-term complications. Despite the importance of hemodynamic assessment through cardiac catheterization in the management and follow-up of these patients, a thorough understanding of the ultimate functioning of this type of circulation is lacking, and the interpretation of the hemodynamic data is often complex. In recent years, new tools such as combined catheterization with cardiopulmonary exercise testing have been incorporated to improve the understanding of the hemodynamic profile of these patients. Furthermore, extensive percutaneous treatment options have been developed, addressing issues ranging from obstructive problems in Fontan pathway and acquired shunts through compensatory collaterals to the percutaneous treatment of lymphatic circulation disorders and transcatheter edge-to-edge repair of atrioventricular valves. The aim of this review is to detail the various tools used in cardiac catheterization for patients with Fontan circulation, analyze different percutaneous treatment strategies, and discuss the latest advancements in this field. Full article
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15 pages, 303 KiB  
Review
Updates in Arrhythmia Management in Adult Congenital Heart Disease
by Adam J. Small, Matthew Dai, Dan G. Halpern and Reina Bianca Tan
J. Clin. Med. 2024, 13(15), 4314; https://doi.org/10.3390/jcm13154314 - 24 Jul 2024
Cited by 1 | Viewed by 1735
Abstract
Arrhythmias are highly prevalent in adults with congenital heart disease. For the clinician caring for this population, an understanding of pathophysiology, diagnosis, and management of arrhythmia is essential. Herein we review the latest updates in diagnostics and treatment of tachyarrhythmias and bradyarrhythmias, all [...] Read more.
Arrhythmias are highly prevalent in adults with congenital heart disease. For the clinician caring for this population, an understanding of pathophysiology, diagnosis, and management of arrhythmia is essential. Herein we review the latest updates in diagnostics and treatment of tachyarrhythmias and bradyarrhythmias, all in the context of congenital anatomy, hemodynamics, and standard invasive palliations for congenital heart disease. Full article
15 pages, 3063 KiB  
Review
Update on Transcatheter Interventions in Adults with Congenital Heart Disease
by Angela Li and Jamil A. Aboulhosn
J. Clin. Med. 2024, 13(13), 3685; https://doi.org/10.3390/jcm13133685 - 25 Jun 2024
Viewed by 1294
Abstract
The field of adult congenital interventions is unique in the world of cardiac catheterization, combining the structural concepts commonly employed in pediatric heart disease and applying them to adult patients, who are more amenable to device intervention as they no longer experience somatic [...] Read more.
The field of adult congenital interventions is unique in the world of cardiac catheterization, combining the structural concepts commonly employed in pediatric heart disease and applying them to adult patients, who are more amenable to device intervention as they no longer experience somatic growth. Rapid advances in the field have been made to match the growing population of adult patients with congenital heart disease, which currently surpasses the number of pediatric patients born with congenital heart disease. Many congenital defects, which once required surgical intervention or reoperation, can now be addressed via the transcatheter approach, minimizing the morbidity and mortality often encountered within adult congenital surgeries. In this paper, we aim to provide a focused review of the more common procedures that are utilized for the treatment of adult congenital heart disease patients in the catheterization laboratory, as examples of current practices in the United States, as well as emerging concepts and devices awaiting approval in the future. Full article
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Other

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19 pages, 3806 KiB  
Project Report
KidsTUMove—A Holistic Program for Children with Chronic Diseases, Increasing Physical Activity and Mental Health
by Nicola Stöcker, Dominik Gaser, Renate Oberhoffer-Fritz and Christina Sitzberger
J. Clin. Med. 2024, 13(13), 3791; https://doi.org/10.3390/jcm13133791 - 28 Jun 2024
Cited by 1 | Viewed by 2045
Abstract
The prevalence of chronic diseases in children and adolescents has risen alarmingly worldwide. Diseases such as asthma, diabetes, obesity, mental disorders, and congenital heart defects are increasingly affecting the lives of children and pose significant challenges for the healthcare system. Physical activity plays [...] Read more.
The prevalence of chronic diseases in children and adolescents has risen alarmingly worldwide. Diseases such as asthma, diabetes, obesity, mental disorders, and congenital heart defects are increasingly affecting the lives of children and pose significant challenges for the healthcare system. Physical activity plays a crucial role in preventing and treating these diseases. Numerous studies have shown that regular exercise improves physical performance, increases well-being, and leads to better health in the long term. Specially tailored sports programs that meet the individual needs and abilities of the children and adolescents affected are particularly important. The KidsTUMove project addresses this by developing tailored exercise programs for children with chronic diseases’ specific needs, medical conditions, and physical abilities. Therefore, it closes the gap in care provision and can thus sustainably improve the health prospects of these children and adolescents. KidsTUMove is positioned to make a significant impact on the lives of affected children across Europe. Promotion of such programs should therefore be an integral part of future health strategies. Full article
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