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Diagnostics
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Advances in the Diagnosis and Management of Congenital Heart Disease
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Advances in the Diagnosis and Management of Congenital Heart Disease

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 July 2024 | Viewed by 8663

Special Issue Editors

Dr. Silvia Favilli

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Guest Editor
Department of Pediatric Cardiology, Meyer Hospital, 50139 Florence, Italy
Interests: congenital heart disease (CHD); cardiomyopathies; adult CHD
Special Issues, Collections and Topics in MDPI journals
Dr. Biagio Castaldi

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Guest Editor
Pediatric Cardiology Unit, Department of Woman’s and Child’s Health, University of Padua, 35122 Padua, Italy
Interests: pediatric cardiology; congenital heart diseases; interventional cardiology; echocardiography
Special Issues, Collections and Topics in MDPI journals
Dr. Ugo Vairo

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Guest Editor
Pediatric Cardiology, Giovanni XXIII Pediatric Hospital Bari, Bari, Italy
Interests: congenital heart disease; interventional cardiology
Dr. Gabriele Rinelli

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Guest Editor
Department of Pediatric Cardiology, Bambino Gesù Children’s Hospital and Research Institute, Rome, Italy
Interests: pediatric cardiology; echocardiography; congenital heart disease

Special Issue Information

Dear Colleagues,

Historically, congenital heart disease (CHD) has represented a major field of interest almost only for pediatric cardiologists. In recent decades, however, the scenario has changed, and more physicians have become involved in caring for patients with CHD. The dramatic improvement in the survival of neonates with even complex CHD, mainly driven by advances in early surgery, has led to a progressive increase in the number of adults with CHD (ACHD). ACHD constitute a very heterogeneous population, with high needs of care; moreover, the clinical features of these patients have deeply changed over recent decades, because acquired diseases intervene in and complicate the management of CHDs.  

On the other hand, the increasingly early and accurate diagnosis with fetal echocardiography leads to a possible termination of pregnancy in many Western countries, especially for more complex CHD. This can progressively change the epidemiology of the pediatric CHD population.

Finally, the world of diagnostics continues to offer more sophisticated tools and software, from echocardiography to cardiac magnetic resonance (CMR) and cardiac computed tomography (CCT), requiring continuous cultural as well as technical updates.

In this Special Issue, we aim to consider some ‘hot topics’ concerning CHD from fetal to adult life. In particular, we will review the main diagnostic tools available and the updated diagnostic or therapeutic pathways for the most relevant and debated issues.

Dr. Silvia Favilli
Dr. Biagio Castaldi
Dr. Ugo Vairo
Dr. Gabriele Rinelli
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. Diagnostics 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

  • pediatric congenital heart disease
  • multimodality imaging
  • interventional cardiology
  • adult congenital heart disease
  • fetal cardiac imaging

Published Papers (7 papers)

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Research

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13 pages, 578 KiB  
Article
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome
by Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino and Maria Cristina Digilio
Diagnostics 2024, 14(6), 594; https://doi.org/10.3390/diagnostics14060594 - 11 Mar 2024
Viewed by 812
Abstract
Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants in the NSD1 gene located on chromosome 5q35. The prevalence of heart defects [...] Read more.
Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants in the NSD1 gene located on chromosome 5q35. The prevalence of heart defects (HDs) in individuals with Sotos syndrome is estimated to be around 15–40%. Septal defects and patent ductus arteriosus are the most commonly diagnosed malformations, but complex defects have also been reported. The aim of our study was to analyze the prevalence of HD, the anatomic types, and the genetic characteristics of 45 patients with Sotos syndrome carrying pathogenetic variants of NSD1 or a 5q35 deletion encompassing NSD1, who were followed at Bambino Gesù Children’s Hospital in Rome. Thirty-nine of the forty-five patients (86.7%) had a mutation in NSD1, while six of the forty-five (13.3%) had a deletion. Most of the patients (62.2%, 28/45) were male, with a mean age of 14 ± 7 years (range 0.2–37 years). A total of 27/45 (60.0%) of the patients had heart defects, isolated or combined with other defects, including septal defects (12 patients), aortic anomalies (9 patients), mitral valve and/or tricuspid valve dysplasia/insufficiency (1 patient), patent ductus arteriosus (3 patients), left ventricular non-compaction/hypertrabeculated left ventricle (LV) (4 patients), aortic coarctation (1 patient), aortopulmonary window (1 patient), and pulmonary valve anomalies (3 patients). The prevalences of HD in the two subgroups (deletion versus intragenic mutation) were similar (66.7% (4/6) in the deletion group versus 58.91% (23/39) in the intragenic variant group). Our results showed a higher prevalence of HD in patients with Sotos syndrome in comparison to that described in the literature, with similar distributions of patients with mutated and deleted genes. An accurate and detailed echocardiogram should be performed in patients with Sotos syndrome at diagnosis, and a specific cardiological follow-up program is needed. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Congenital Heart Disease)
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13 pages, 507 KiB  
Article
Analysis of Out-of-Hospital First Aid for Recovery of Spontaneous Circulation after Cardiac Arrest in Korea
by Hyeon-Ji Lee, Mi-Young Choi and Young-Soon Choi
Diagnostics 2024, 14(2), 224; https://doi.org/10.3390/diagnostics14020224 - 20 Jan 2024
Viewed by 828
Abstract
The characteristics of an individual patient experiencing out-of-hospital cardiac arrest who recovered spontaneous circulation with the assistance of witnesses and paramedics were examined. The analysis of bystander cardiopulmonary resuscitation (CPR) and the professional first aid efforts of paramedics in the pre-hospital environment is [...] Read more.
The characteristics of an individual patient experiencing out-of-hospital cardiac arrest who recovered spontaneous circulation with the assistance of witnesses and paramedics were examined. The analysis of bystander cardiopulmonary resuscitation (CPR) and the professional first aid efforts of paramedics in the pre-hospital environment is pivotal to enhancing the survival rate of out-of-hospital cardiac arrest patients. The data used in this study were extracted from the Korea Centers for Disease Control and Prevention (KCDC) nationally recognized statistics, Acute Heart Failure big data survey. Out-of-hospital cardiac arrest (OHCA) customer data were collected from the Gangwon Fire Headquarters public information database as social management data. The data were analyzed using SPSS 24. The study’s results emphasized the significance of offering basic CPR training to the public. This is evident from the fact that 90.5% of the first witnesses in the study performed CPR on OHCA patients, resulting in the recovery of spontaneous circulation (ROSC). The majority of patients with ROSC were male, with the highest age group being 41–50 years. Heart disease, hypertension, and diabetes were common medical conditions. The rate of witnessing cardiac arrest was high. Among the first witnesses, about 78.4% were of cardiac arrest incidents involving family members, co-workers, or acquaintances; 12.2% were on-duty medical healthcare personnel; and 9.5% were off-duty healthcare personnel. Cardiac arrest was treated in 83.8% of cases, with 90% of witnesses performing CPR. The percentage of witnesses that used an automated external defibrillator (AED) was 13.5%. In this study, the rates of ECG monitoring, CPR performance, and defibrillation performed by paramedics were high, but intravascular access and drug administration had a lower rate of performance. The time elapsed depended on the patient’s physical fitness. The study found that paramedics had the highest CPC restoration rate in patients with cardiac arrest, followed by EMTs and nurses. Significant differences were observed in cerebral performance scores after care by these paramedics and nurses. To increase the performance of AEDs, more AEDs should be installed in public spaces so that the public can access them conveniently in cases of emergency. In addition, it is necessary to improve the quality of professional first aid physical activity services performed by first-class paramedics. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Congenital Heart Disease)
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Review

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12 pages, 1587 KiB  
Review
Utility of Fetal Cardiac Resonance Imaging in Prenatal Clinical Practice: Current State of the Art
by Alice Pozza, Elena Reffo, Biagio Castaldi, Irene Cattapan, Martina Avesani, Roberta Biffanti, Annachiara Cavaliere, Alessia Cerutti and Giovanni Di Salvo
Diagnostics 2023, 13(23), 3523; https://doi.org/10.3390/diagnostics13233523 - 24 Nov 2023
Cited by 1 | Viewed by 933
Abstract
The field of prenatal cardiac imaging has revolutionized the way we understand and manage congenital heart diseases (CHD) in the developing fetus. In the prenatal period, cardiac imaging plays a pivotal role in the diagnostic pathway, from screening to classification and follow-up of [...] Read more.
The field of prenatal cardiac imaging has revolutionized the way we understand and manage congenital heart diseases (CHD) in the developing fetus. In the prenatal period, cardiac imaging plays a pivotal role in the diagnostic pathway, from screening to classification and follow-up of CHD. The ability to visualize the fetal heart in utero allows healthcare professionals to detect abnormalities early, thus enabling timely interventions and informed decision-making processes for both the mother and the medical team. Early CHD detection improves preparation for delivery, postnatal care, and postnatal outcomes. Advancements in medical technology and imaging techniques have provided clinicians with insights into the fascinating workings of the fetal heart. Several imaging modalities have proven to be helpful in this field, with echocardiography undoubtedly representing the primary modality for evaluating the fetus. By providing detailed anatomical and functional information, fetal cardiac magnetic resonance (CMR) imaging contributes to better prenatal counseling and enhances the coordination of care between obstetricians, maternal–fetal medicine specialists, and pediatric cardiologists. Shortcomings of fetal CMR are due to technical concerns related to the intrauterine position of the fetus and subsequent challenges to following a standard scan protocol. The aim of this paper was to revise the current state-of-the-art in the field of fetal CMR and its clinical applications and to delve into methods, challenges, and future directions of fetal CMR in prenatal imaging. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Congenital Heart Disease)
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17 pages, 1409 KiB  
Review
Transcatheter Interventions for Neonates with Congenital Heart Disease: A Review
by Giovanni Meliota and Ugo Vairo
Diagnostics 2023, 13(16), 2673; https://doi.org/10.3390/diagnostics13162673 - 14 Aug 2023
Viewed by 1187
Abstract
Newborns with congenital heart disease often require interventions linked to high morbidity and mortality rates. In the last few decades, many transcatheter interventions have become the first-line treatments for some critical conditions in the neonatal period. A catheter-based approach provides several advantages in [...] Read more.
Newborns with congenital heart disease often require interventions linked to high morbidity and mortality rates. In the last few decades, many transcatheter interventions have become the first-line treatments for some critical conditions in the neonatal period. A catheter-based approach provides several advantages in terms of procedural time, length of hospitalization, repeatability and neurodevelopmental issues (usually related to cardiopulmonary bypass). The main transcatheter procedures will be reviewed, as they are now valid alternatives to conventional surgical management. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Congenital Heart Disease)
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17 pages, 1018 KiB  
Review
Overview of Long-Term Outcome in Adults with Systemic Right Ventricle and Transposition of the Great Arteries: A Review
by Francesca Bevilacqua, Giulia Pasqualin, Paolo Ferrero, Angelo Micheletti, Diana Gabriela Negura, Angelo Fabio D’Aiello, Alessandro Giamberti and Massimo Chessa
Diagnostics 2023, 13(13), 2205; https://doi.org/10.3390/diagnostics13132205 - 28 Jun 2023
Viewed by 2516
Abstract
The population of patients with a systemic right ventricle (sRV) in biventricular circulation includes those who have undergone an atrial switch operation for destro-transposition of the great arteries (d-TGA) and those with congenitally corrected transposition of the great arteries (ccTGA). Despite the life [...] Read more.
The population of patients with a systemic right ventricle (sRV) in biventricular circulation includes those who have undergone an atrial switch operation for destro-transposition of the great arteries (d-TGA) and those with congenitally corrected transposition of the great arteries (ccTGA). Despite the life expectancy of these patients is significantly increased, the long-term prognosis remains suboptimal due to late complications such as heart failure, arrhythmias, and premature death. These patients, therefore, need a close follow-up to early identify predictive factors of adverse outcomes and to implement all preventive therapeutic strategies. This review analyzes the late complications of adult patients with an sRV and TGA and clarifies which are risk factors for adverse prognosis and which are the therapeutic strategies that improve the long-term outcomes. For prognostic purposes, it is necessary to monitor sRV size and function, the tricuspid valve regurgitation, the functional class, the occurrence of syncope, the QRS duration, N-terminal pro B-type natriuretic peptide levels, and the development of arrhythmias. Furthermore, pregnancy should be discouraged in women with risk factors. Tricuspid valve replacement/repair, biventricular pacing, and implantable cardioverter defibrillator are the most important therapeutic strategies that have been shown, when used correctly, to improve long-term outcomes. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Congenital Heart Disease)
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Other

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14 pages, 3291 KiB  
Study Protocol
Overcoming Underpowering in the Outcome Analysis of Repaired—Tetralogy of Fallot: A Multicenter Database from the CMR/CT Working Group of the Italian Pediatric Cardiology Society (SICPed)
by Lamia Ait-Ali, Benedetta Leonardi, Annalisa Alaimo, Giovanna Baccano, Elena Bennati, Valentina Bucciarelli, Alberto Clemente, Silvia Favilli, Francesca Ferroni, Maria Cristina Inserra, Luigi Lovato, Antonella Maiorano, Simona Anna Marcora, Chiara Marrone, Nicola Martini, Gianluca Mirizzi, Giulia Pasqualin, Giuseppe Peritore, Giovanni Puppini, Camilla Sandrini, Francesca Raimondi, Francesco Secchi, Gaia Spaziani, Nicola Stagnaro, Stefano Salvadori, Aurelio Secinaro, Bertrand Tchana, Gianluca Trocchio, Davide Galetti, Federica Pieroni, Stefano Dalmiani, Francesco Bianco and Pierluigi Festaadd Show full author list remove Hide full author list
Diagnostics 2023, 13(20), 3255; https://doi.org/10.3390/diagnostics13203255 - 19 Oct 2023
Viewed by 875
Abstract
Background: Managing repaired tetralogy of Fallot (TOF) patients is still challenging despite the fact that published studies identified prognostic clinical or imaging data with rather good negative predictive accuracy but weak positive predictive accuracy. Heterogeneity of the initial anatomy, the surgical approach, and [...] Read more.
Background: Managing repaired tetralogy of Fallot (TOF) patients is still challenging despite the fact that published studies identified prognostic clinical or imaging data with rather good negative predictive accuracy but weak positive predictive accuracy. Heterogeneity of the initial anatomy, the surgical approach, and the complexity of the mechanism leading to dilation and ventricular dysfunction explain the challenge of predicting the adverse event in this population. Therefore, risk stratification and management of this population remain poorly standardized. Design: The CMR/CT WG of the Italian Pediatric Cardiology Society set up a multicenter observational clinical database of repaired TOF evaluations. This registry will enroll patients retrospectively and prospectively assessed by CMR for clinical indication in many congenital heart diseases (CHD) Italian centers. Data collection in a dedicated platform will include surgical history, clinical data, imaging data, and adverse cardiac events at 6 years of follow-up. Summary: The multicenter repaired TOF clinical database will collect data on patients evaluated by CMR in many CHD centers in Italy. The registry has been set up to allow future research studies in this population to improve clinical/surgical management and risk stratification of this population. Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Congenital Heart Disease)
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14 pages, 1756 KiB  
Systematic Review
Double-Outlet Left Ventricle: Case Series and Systematic Review of the Literature
by Michele Lioncino, Giulio Calcagni, Fausto Badolato, Giovanni Antonelli, Benedetta Leonardi, Andrea de Zorzi, Aurelio Secinaro, Gianluca Brancaccio, Sonia Albanese, Adriano Carotti, Fabrizio Drago and Gabriele Rinelli
Diagnostics 2023, 13(20), 3175; https://doi.org/10.3390/diagnostics13203175 - 11 Oct 2023
Viewed by 877
Abstract
Double-outlet left ventricle (DOLV) is an abnormal ventriculo-arterial connection characterized by the origin of both great arteries from the morphological left ventricle. The aim of our paper is to describe the morphological and imaging features of DOLV and to assess the prevalence of [...] Read more.
Double-outlet left ventricle (DOLV) is an abnormal ventriculo-arterial connection characterized by the origin of both great arteries from the morphological left ventricle. The aim of our paper is to describe the morphological and imaging features of DOLV and to assess the prevalence of the associated malformations and their surgical outcomes. METHODS From 2011 to 2022, we retrospectively reviewed the electronic case records of patients diagnosed with DOLV at the Bambino Gesu Children’s Hospital. A systematic search was developed in MEDLINE, Web of Science, and EMBASE databases to identify reports assessing the morphology and outcomes of DOLV between 1975 and 2023. RESULTS: Over a median follow-up of 9.9 years (IQR 7.8–11.7 y), four cases of DOLV were identified at our institution. Two patients were diagnosed with (S,D,D) DOLV subaortic VSD and pulmonary stenosis (PS): one patient had (S,D,D) DOLV with doubly committed VSD and hypoplastic right ventricle, and another patient had (S,D,L) DOLV with subaortic VSD and PS (malposition type). Pulmonary stenosis was the most commonly associated lesion (75%). LITERATURE REVIEW: After systematic evaluation, a total of 12 reports fulfilled the eligibility criteria and were included in our analysis. PS or right ventricular outflow tract obstruction was the most commonly associated lesion (69%, 95% CI 62–76%). The most common locations of VSD were subaortic (pooled prevalence: 75%, 95% CI 68–81), subpulmonary (15%, 95% CI 10–21), and doubly committed (7%, 95% CI 4–12). The position of the great arteries showed that d-transposition of the aorta was present in 128 cases (59% 95% CI 42–74), and l-transposition was present in 77 cases (35%, 95% CI 29–43). Full article
(This article belongs to the Special Issue Advances in the Diagnosis and Management of Congenital Heart Disease)
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