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Congenital Heart Disease: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management
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Congenital Heart Disease: Diagnosis, Clinical Characteristics, Prognostic Implications, 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: 25 September 2024 | Viewed by 3467

Special Issue Editors

Dr. Giulio Calcagni

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Guest Editor
Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
Interests: congenital heart disease; child health; neonatology and Pediatric cardiology; heart failure in congenital heart disease; genotype–phenotype correlation in CHD
Prof. Dr. Paolo Versacci

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Guest Editor
Department of Pediatrics, Obstetrics and Gynecology, “Sapienza” University of Rome, Policlinico Umberto I, 00155 Rome, Italy
Interests: congenital heart disease; child health; neonatology and Pediatric cardiology; heart failure in congenital heart disease; genotype–phenotype correlation in CHD

Special Issue Information

Dear Colleagues, 

We are pleased to announce this Special Issue on congenital heart disease, with a focus on diagnosis, clinical characteristics, prognostic implications, and management. 

Congenital heart diseases (CHDs) are the most common congenital defects in live births (with an incidence rate of approximately 1%). Although clinical characteristics may facilitate the diagnostic process, prognostic implication and management remain a challenge. The latest innovations on echocardiographic hardware and software, the role of the cMRI/CT scan, and the zero-fluoroscopy approach for the treatment of heart defects and arrhythmias represent significant innovations in this field and thereby open up new possibilities for clinicians dealing with these patients from the neonatal period to adulthood.

Finally, the new role of genetical diagnosis and a more focused genotype–phenotype correlation on CHD and arrhythmias may also facilitate a better way of managing these congenital disorders.

We hope that this Special Issue will provide a comprehensive update on the topic and a thorough overview of the most recent advances in the field. Therefore, we encourage researchers to submit their contributions to this Special Issue.

Dr. Giulio Calcagni
Prof. Dr. Paolo Versacci
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • congenital heart defects
  • genotype phenotype correlations
  • imaging in congenital heart disease
  • heart failure in congenital heart disease
  • clinical management

Published Papers (5 papers)

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11 pages, 793 KiB  
Article
The Fate of Mitral Valve Surgery in the Pediatric Age: A 25-Year Single-Center Experience
by Eitan Keizman, Shai Tejman-Yarden, Evyatar Hubara, Shay Illouz, Uriel Katz, David Mishaly, Alain E. Serraf and Uri Pollak
J. Clin. Med. 2024, 13(13), 3761; https://doi.org/10.3390/jcm13133761 - 27 Jun 2024
Viewed by 170
Abstract
Background: The aim of this study was to evaluate the natural history of patients after mitral valve intervention in the pediatric age. Methods: This is a retrospective study including all patients who underwent mitral valve surgery from 1998 to 2022. The patients’ surgical [...] Read more.
Background: The aim of this study was to evaluate the natural history of patients after mitral valve intervention in the pediatric age. Methods: This is a retrospective study including all patients who underwent mitral valve surgery from 1998 to 2022. The patients’ surgical reports, postoperative records, and ambulatory visits were reviewed. The endpoints of the study were survival and freedom from mitral valve reoperation. Results: Of the 70 patients included in the cohort, 61 patients (86.7%) had congenital mitral valve disease, of whom 46 patients (75.4%) had a predominantly mitral regurgitation lesion, and 15 patients (24.6%) had a predominantly mitral stenosis. In the mitral regurgitation group, all of the patients underwent valve repair with an operative mortality of one patient (2.1%), and with median follow-up of 4 years (range, 0.5–13 years), there was 4.3% mortality (n = 2) and 71.2% freedom from reoperation. In the mitral stenosis group, 11 patients underwent mitral valve repair, and 4 patients underwent valve replacement. There was an operative mortality of two patients (13.3%). With a 2-year median follow-up (range: 0.1–23 years), there were no additional mortality cases in the mitral stenosis group. All three patients who survived primary mitral valve replacement (100%) and four patients who survived a primary repair (40.0%) underwent reoperation. Conclusions: This study demonstrates encouraging outcomes for mitral valve repair. The mortality of patients with congenital mitral valve disease may also be related to a difficult postoperative course, rather than the MV lesion itself. Full article
(This article belongs to the Special Issue Congenital Heart Disease: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management)
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13 pages, 1213 KiB  
Article
Clinical Factors Affecting Survival in Patients with Congenitally Corrected Transposition of the Great Arteries: A Systematic Review and Meta-Analysis
by Sonia Alicja Nartowicz, Ewelina Jakielska, Piotr Ratajczak, Maciej Lesiak and Olga Trojnarska
J. Clin. Med. 2024, 13(11), 3127; https://doi.org/10.3390/jcm13113127 - 27 May 2024
Viewed by 548
Abstract
Background: Congenitally corrected transposition of the great arteries (cc-TGA) is a defect characterized by arterio-ventricular and atrioventricular disconcordance. Most patients have co-existing cardiac abnormalities that warrant further treatment. Some patients do not require surgical intervention, but most undergo physiological repair or anatomical surgery, [...] Read more.
Background: Congenitally corrected transposition of the great arteries (cc-TGA) is a defect characterized by arterio-ventricular and atrioventricular disconcordance. Most patients have co-existing cardiac abnormalities that warrant further treatment. Some patients do not require surgical intervention, but most undergo physiological repair or anatomical surgery, which enables them to reach adulthood. Aims: We aimed to evaluate mortality risk factors in patients with cc-TGA. Results: We searched the PubMed database and included 10 retrospective cohort studies with at least a 5-year follow-up time with an end-point of cardiovascular death a minimum of 30 days after surgery. We enrolled 532 patients, and 83 met the end-point of cardiovascular death or equivalent event. As a risk factor for long-term mortality, we identified New York Heart Association (NYHA) class ≥III/heart failure hospitalization (OR = 10.53; 95% CI, 3.17–34.98) and systemic ventricle dysfunction (SVD; OR = 4.95; 95% CI, 2.55–9.64). We did not show history of supraventricular arrhythmia (OR = 2.78; 95% CI, 0.94–8.24), systemic valve regurgitation ≥moderate (SVR; OR = 4.02; 95% Cl, 0.84–19.18), and pacemaker implantation (OR = 1.48; 95% Cl, 0.12–18.82) to affect the long-term survival. In operated patients only, SVD (OR = 4.69; 95% CI, 2.06–10.71) and SVR (OR = 3.85; 95% CI, 1.5–9.85) showed a statistically significant impact on survival. Conclusions: The risk factors for long-term mortality for the entire cc-TGA population are NYHA class ≥III/heart failure hospitalization and systemic ventricle dysfunction. In operated patients, systemic ventricle dysfunction and at least moderate systemic valve regurgitation were found to affect survival. Full article
(This article belongs to the Special Issue Congenital Heart Disease: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management)
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10 pages, 1628 KiB  
Article
Left Atrial Stiffness Increases after Trans-Catheter Atrial Septal Closure
by Shuhei Tanaka, Teruhiko Imamura, Nobuyuki Fukuda, Hiroshi Ueno and Koichiro Kinugawa
J. Clin. Med. 2024, 13(2), 327; https://doi.org/10.3390/jcm13020327 - 6 Jan 2024
Viewed by 884
Abstract
Background: Transcatheter atrial septal closures for secundum atrial septal defects (ASD) have demonstrated favorable clinical outcomes. However, the impact of device implantation on the stiffness of the left atrium remains unclear. Method: Patients with secundum ASD undergoing transcatheter closure and follow-up right heart [...] Read more.
Background: Transcatheter atrial septal closures for secundum atrial septal defects (ASD) have demonstrated favorable clinical outcomes. However, the impact of device implantation on the stiffness of the left atrium remains unclear. Method: Patients with secundum ASD undergoing transcatheter closure and follow-up right heart catheterization at six months were included. We investigated the relationship between post-procedural (E/e’ ratio)/(LAs strain) ratio, an index of left atrial stiffness, and baseline characteristics, including echocardiographic and hemodynamic parameters. Results: Forty patients were included (median 69 (56, 75) years, 12 men, and pulmonary systemic flow ratio 2.27 (1.96, 2.86)). Trans-catheter ASD closure was successfully performed without any major complications, accompanying a significant reduction in right ventricular to left ventricular size ratio from 1.04 (0.87, 1.13) to 0.74 (0.66, 0.86) (p < 0.01). The (E/e’ ratio)/(LAs strain) ratio was markedly elevated the day after the procedure and was further increased 6 months later (before: 0.25 (0.17, 0.34), 1 day later: 0.34 (0.27, 0.50), 6 months later: 0.43 (0.27, 0.76), p < 0.01). The groups with higher (E/e’ ratio)/(LAs strain) ratios at 6 months had significantly more severe heart failure conditions including lower cardiac output and higher plasma B-type natriuretic peptides. Conclusions: Patients undergoing transcatheter ASD closure experienced improvement in hemodynamics and clinical symptoms but an elevation in left atrial stiffness post-procedure. The clinical ramifications of this finding, particularly during the longer-term observation period subsequent to ASD closure, warrant further investigation. Full article
(This article belongs to the Special Issue Congenital Heart Disease: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management)
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10 pages, 725 KiB  
Article
Mid-Term Electrical Remodeling after Percutaneous Atrial Septal Defect Closure with GCO Device in a Pediatric Population
by Jennifer Fumanelli, Silvia Garibaldi, Biagio Castaldi, Angela Di Candia, Alessandra Pizzuto, Domenico Sirico, Magdalena Cuman, Gianluca Mirizzi, Pietro Marchese, Massimiliano Cantinotti, Marcello Piacenti, Nadia Assanta, Cecilia Viacava, Giovanni Di Salvo and Giuseppe Santoro
J. Clin. Med. 2023, 12(19), 6334; https://doi.org/10.3390/jcm12196334 - 2 Oct 2023
Cited by 1 | Viewed by 912
Abstract
Background and aim: The GORE® CARDIOFORM (GCO) septal occluder is an atrial septal defect/patent foramen ovale closure device with theoretical advantages over other commercialized devices thanks to its softness and anatomical compliance. Our aim was to evaluate the short- and medium-term electrocardiographic [...] Read more.
Background and aim: The GORE® CARDIOFORM (GCO) septal occluder is an atrial septal defect/patent foramen ovale closure device with theoretical advantages over other commercialized devices thanks to its softness and anatomical compliance. Our aim was to evaluate the short- and medium-term electrocardiographic changes after percutaneous ASD closure with GCO in a pediatric population. Methods: We enrolled 39 patients with isolated ASD submitted to trans-catheter closure from January 2020 to June 2021. ECG was performed before, at 24 h and 6 months after the procedure. P wave dispersion, QTc and QTc dispersion were calculated. ECG Holter was recorded at 6 months after implantation. Results: Patients’ age and body surface area (BSA) were 8.2 ± 4.2 years and 1.0 ± 0.3 m2 respectively. At the baseline, mean P wave dispersion was 40 ± 15 msec and decreased at 24 h (p < 0.002), without any further change at 6 months. At 24 h, PR conduction and QTc dispersion significantly improved (p = 0.018 and p < 0.02 respectively), while the absolute QTc value considerably improved after 6 months. During mid-term follow-up, QTc dispersion remained stable without a significant change in PR conduction. The baseline cardiac frequency was 88.6 ± 12.6 bpm, followed by a slight reduction at 24 h, with a further amelioration at 6 months after the procedure (87.3 ± 14.2, p = 0.9 and 81.0 ± 12.7, p = 0.009, respectively). After device deployment, two patients developed transient, self-limited junctional rhythm. One of them needed a short course of Flecainide for atrial ectopic tachycardia. No tachy/brady-arrhythmias were recorded at the 6-month follow-up. ASD closure resulted in a marked decrease in right heart volumes and diameters at 6 months after percutaneous closure. Conclusions: Percutaneous ASD closure with the GCO device results in significant, sudden improvement of intra-atrial, atrio-ventricular and intraventricular electrical homogeneity. This benefit persists unaltered over a medium-term follow-up. These electrical changes are associated with a documented positive right heart volumetric remodeling at mid-term follow-up. Full article
(This article belongs to the Special Issue Congenital Heart Disease: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management)
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15 pages, 2701 KiB  
Case Report
Raghib Syndrome and Pulmonary Arterial Hypertension in a Pediatric Patient: Case Report and Literature Review
by Liliana Gozar, Maria Oana Săsăran, Marius Cătălin Cosma, Daniela Toma, Andreea Georgiana Nan and Horea Gozar
J. Clin. Med. 2024, 13(12), 3623; https://doi.org/10.3390/jcm13123623 - 20 Jun 2024
Viewed by 432
Abstract
Background: Raghib syndrome is a rare malformation complex consisting of the drainage of the left superior vena cava (LSVC) into the left atrium, ostial atresia of the coronary sinus and an atrial septal defect (ASD). Case Report: This report aims to present the [...] Read more.
Background: Raghib syndrome is a rare malformation complex consisting of the drainage of the left superior vena cava (LSVC) into the left atrium, ostial atresia of the coronary sinus and an atrial septal defect (ASD). Case Report: This report aims to present the case of a child newly diagnosed with Raghib syndrome, complicated by pulmonary arterial hypertension, and to review previously published cases with the same diagnosis. A six-year-old female patient presented with signs and symptoms of heart failure (Ross III), reduced exercise tolerance and severe delay in stature and ponderal development. The imagistic work-up included echocardiography, followed by computer tomography (CT) and magnetic resonance imaging (MRI), through which a diagnosis of Raghib syndrome was established, complicated by pulmonary hypertension. As in other cases presented in the literature, MRI allowed for an accurate diagnosis, detecting the absent coronary sinus. The decision regarding the surgical closure of the ASD was made, with the patient having a favorable clinical evolution but with the persistence of elevated pulmonary artery pressure, for which Sildenafil therapy was instituted. Conclusions: The malformation complex consisting of an atrial septal defect, ostium atresia of the coronary sinus, uncovered coronary sinus, and persistent left superior vena cava, as identified through multiple imagistic investigations, was suggestive of the rare diagnosis of Raghib syndrome in this case. Among the limited number of cases of Raghib syndrome available in the literature, the present case is distinguished by the severity of the pulmonary artery hypertension at a very young age and in the absence of other concurrent cardiac malformations. Full article
(This article belongs to the Special Issue Congenital Heart Disease: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management)
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