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New Advances in the Diagnosis and Treatment of Congenital Heart Disease

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A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601).

Deadline for manuscript submissions: closed (31 May 2023) | Viewed by 19420

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Special Issue Editors

Dr. Marco Alfonso Perrone

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Department of Cardiology and CardioLab, University of Rome Tor Vergata, 00133 Rome, Italy
Interests: cardiovascular disease; cardiac biomarkers; heart failure; cardiac imaging; congenital heart disease; sports cardiology; exercise training; pediatric cardiology; atherosclerosis; cardiovascular prevention
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Dr. Paolo Guccione

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Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children Hospital, 00146 Rome, Italy
Interests: interventional management of congenital heart disease; cardiac catheterization; pediatric cardiology; pediatric cardiac surgery; ecocardiography; electrocardiography
Special Issues, Collections and Topics in MDPI journals

Dr. Lorenzo Galletti

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Guest Editor

Chief Pediatric Cardiac Surgery Unit, Department of Cardiac Surgery, Cardiology and Heart and Lung Transplant, Bambino Gesù Children Hospital, Rome, Italy
Interests: fontan circulation; neonatal repair of congenital heart disease; HLHS & single ventricle physiology and surgery; mechanical circulatory support; heart transplantation; adult congenital heart disease surgery
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Congenital heart disease is one of the most fascinating topics among cardiovascular diseases. With an incidence of about 1% of live births, congenital heart disease has been a subject of great clinical and scientific interest over the years. Just a few decades ago, children who were born with complex heart disease had a doomed fate. Today, thanks to clinical and surgical innovations, children with the same disease can grow up and reach adulthood. Pediatric cardiac surgery has developed innovative techniques in the surgery of complex heart disease, of the univentricular heart, up to ventricular assistance and transplantation. At the same time, transcatheter techniques have enabled the non-surgical treatment of various heart diseases. More recently, hybrid treatment (surgery and transcatheter) of the most complex heart diseases has shown great promise. On the other hand, many innovations have also been possible thanks to a greater knowledge of the pathophysiology of congenital heart disease, multimodality imaging (echocardiography, cardiac magnetic resonance, computed tomography, nuclear imaging), basic science research, and genetics.

This Special Issue will provide updates on the diagnosis and treatment of congenital heart disease through surgical, clinical, interventional, imaging, and translational research innovations.

Dr. Marco Alfonso Perrone
Dr. Paolo Guccione
Dr. Lorenzo Galletti
Guest Editors

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Keywords

Congenital heart disease
Cardiac surgery
Interventional cardiology
Cardiac imaging
Ventricular assist devices
Fontan circulation
Valvular heart disease
Heart failure
Biomarkers and genetics
Heart transplantation

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Published Papers (7 papers)

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Research

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14 pages, 2042 KiB

Open AccessArticle

Favourable Short- to Mid-Term Outcome after PDA-Stenting in Duct-Dependent Pulmonary Circulation

by Regina Wespi, Alessia Callegari, Daniel Quandt, Jana Logoteta, Michael von Rhein, Oliver Kretschmar and Walter Knirsch

Int. J. Environ. Res. Public Health 2022, 19(19), 12794; https://doi.org/10.3390/ijerph191912794 - 6 Oct 2022

Cited by 1 | Viewed by 1998

Abstract

Background. Stenting of patent ductus arteriosus (PDA) is a minimally invasive catheter-based temporary palliative procedure that is an alternative to a surgical shunt in neonates with duct-dependent pulmonary perfusion. Methods. An observational, single-centre, cross-sectional study of patients with duct-dependent pulmonary perfusion undergoing PDA-stenting as a stage I procedure and an analysis of short- to mid-term follow-up until a subsequent surgical procedure (stage II), with a focus on the interstage course. Results. Twenty-six patients were treated with PDA-stenting at a median (IQR) age of 7 (4–10) days; 10/26 patients (38.5%) (6/10 single pulmonary perfusion) were intended for later univentricular palliation, 16/26 patients (61.5%) (13/16 single pulmonary perfusion) for biventricular repair. PDA diameter was 2.7 (1.8–3.2) mm, stent diameter 3.5 (3.5–4.0) mm. Immediate procedural success was 88.5%. The procedure was aborted, switching to immediate surgery after stent embolisation, malposition or pulmonary coarctation in three patients (each n = 1). During mid-term follow-up, one patient needed an additional surgical shunt due to severe cyanosis, while five patients underwent successful catheter re-intervention 27 (17–30) days after PDA-stenting due to pulmonary hypo- (n = 4) or hyperperfusion (n = 1). Interstage mortality was 8.6% (2/23), both in-hospital and non-procedure-related. LPA grew significantly (p = 0.06) between PDA-stenting and last follow-up prior to subsequent surgical procedure (p = 0.06). RPA Z-scores remained similar (p = 0.22). The subsequent surgical procedure was performed at a median age of 106 (76.5–125) days. Conclusions. PDA-stenting is a feasible, safe treatment option, with the need for interdisciplinary decision-making beforehand and surgical backup afterwards. It allows adequate body and pulmonary vessel growth for subsequent surgical procedures. Factors determining the individual patient’s course should be identified in larger prospective studies. Full article

(This article belongs to the Special Issue New Advances in the Diagnosis and Treatment of Congenital Heart Disease)

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13 pages, 919 KiB

Open AccessArticle

Findings and Outcome of Transcatheter Right Ventricular Endomyocardial Biopsy and Hemodynamic Assessment in Children with Suspected Myocarditis or Cardiomyopathy

by Alessia Callegari, Daniel Quandt, Achim Schmitz, Karin Klingel, Christian Balmer, Hitendu Dave, Oliver Kretschmar and Walter Knirsch

Int. J. Environ. Res. Public Health 2022, 19(16), 10406; https://doi.org/10.3390/ijerph191610406 - 21 Aug 2022

Cited by 2 | Viewed by 1696

Abstract

Objective: The study objective is assessing findings and outcome in children with suspected cardiomyopathy (CMP) or myocarditis undergoing cardiac catheterization with transcatheter right ventricular endomyocardial biopsy (RV-EMB). Methods: All consecutive children undergoing cardiac catheterization with RV-EMB for suspected CMP/myocarditis between 2002–2021 were analysed regarding clinical presentation, cardiac biomarkers, periprocedural management, hemodynamic, histological/immunohistological findings, and outcome. Results: Eighty-five RV-EMBs were performed in 81 patients at a median age of 6.8 (IQR 9.9) years and a bodyweight of 20 (32.2) kg. Histological/immunohistological findings of RV-EMB revealed dilated CMP in 10 (12%), chronic myocarditis in 28 (33%), healing myocarditis in 5 (6%), acute myocarditis in 9 (11%), other heart muscle diseases in 23 (27%) (7 restrictive CMP, 5 hypertrophic CMP, 4 toxic/anthracycline-induced CMP, 4 endocardfibroelastosis, 1 arrhythmogenic right ventricular CMP, 1 laminin CMP, 1 haemangioma), no conclusive histology in 7 (8%), and normal histology in 3 (4%) patients. Median LVEDP was 17 mmHg (IQR 9), LAP 15 mmHg (10), and PVR 1.83 (1.87) Wood Units/m². There were 3 major complications (3%), all patients recovered without any sequelae. At follow-up (median 1153, IQR 1799 days) 47 (59%) patients were alive, 11 (13%) dead, 15 (18%) underwent cardiac transplantation, and 8 (9%) were lost to follow-up. Death/cardiac transplantation occurred within 3 years from RV-EMB. All patients with an acute myocarditis survived. NT-pro-BNP, echo parameters, and invasive hemodynamics correlate independently with death/cardiac transplant. Conclusion: Hemodynamic invasive data and morphological findings in RV-EMB complete clinical diagnosis in children with suspected CMP/myocarditis and provide important information for further clinical management. Full article

(This article belongs to the Special Issue New Advances in the Diagnosis and Treatment of Congenital Heart Disease)

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14 pages, 1645 KiB

Open AccessArticle

Adherence to Mediterranean Diet and Its Association with Maternal and Newborn Outcomes

by Laura Di Renzo, Marco Marchetti, Giuseppe Rizzo, Paola Gualtieri, Diego Monsignore, Francesca Dominici, Ilenia Mappa, Ottavia Cavicchioni, Lorenzo Aguzzoli, Antonino De Lorenzo and on behalf of the MeDAP Group

Int. J. Environ. Res. Public Health 2022, 19(14), 8497; https://doi.org/10.3390/ijerph19148497 - 12 Jul 2022

Cited by 7 | Viewed by 2462

Abstract

Background: Pregnancy is a crucial stage in a woman’s life and can be affected by epigenetic and environmental factors. Diet also plays a key role in gestation. This study aimed to evaluate how a greater or lesser adherence to the Mediterranean Diet (MD) influences specific parameters of mother and newborn. Methods: After delivery, the women participating in the study answered a questionnaire: demographic information; anthropometric data (pre-pregnancy weight, height, and gestational weight gain); dietary habits information (adherence to MD before and during pregnancy, using the validated Mediterranean Diet Adherence Screener (MEDAS), quality of protein intake); pregnancy information (onset of complications, cesarean/vaginal delivery, gestational age at birth, birth weight, birth length); and clinical practitioner for personalized dietary patterns during pregnancy. Results: A total of 501 respondents have been included in the study, and 135 were excluded for complications. Women who followed the advice of clinical nutritionists showed better adherence to MD (p = 0.02), and the baby’s birth weight was higher (p = 0.02). Significant differences in gestational weight gain (p < 0.01) between groups with dissimilar diet adherence were demonstrated. Conclusion: Our data demonstrate a significant relationship between adherence to MD and birthweight. Full article

(This article belongs to the Special Issue New Advances in the Diagnosis and Treatment of Congenital Heart Disease)

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16 pages, 854 KiB

Open AccessArticle

Risk Factors of Right Ventricular Dysfunction and Adverse Cardiac Events in Patients with Repaired Tetralogy of Fallot

by Benedetta Leonardi, Camilla Calvieri, Marco Alfonso Perrone, Arianna Di Rocco, Adriano Carotti, Massimo Caputo, Aurelio Secinaro, Davide Curione, Maria Giulia Gagliardi, Paolo Guccione, Sonia Albanese, Lorenzo Galletti and Fabrizio Drago

Int. J. Environ. Res. Public Health 2021, 18(19), 10549; https://doi.org/10.3390/ijerph181910549 - 8 Oct 2021

Cited by 4 | Viewed by 2209

Abstract

Aim: This study evaluates the risk factors associated with right ventricular (RV) dilation and dysfunction leading to pulmonary valve replacement (PVR) or adverse cardiac events in repaired Tetralogy of Fallot (rToF) patients. Methods: Data from all rToF patients who underwent magnetic resonance imaging (MRI) evaluation at our hospital between February 2007 and September 2020 were collected. Results: Three hundred and forty-two patients (60% males, 42% older than 18 years), with a median age of 16 years (IQR 13–24) at the time of MRI, were included. All patients underwent complete repair at a median age of 8 months (IQR 5–16), while palliation was performed in 56 patients (16%). One hundred and forty-four patients (42%) subsequently received pulmonary valve replacement (PVR). At the multivariate analysis, male gender was an independent predictor for significant RV dilation, RV and left ventricular (LV) dysfunction. Transventricular ventricular septal defect (VSD) closure and previous palliation significantly affected LV function and RV size, respectively. Male gender and the transventricular VSD closure were independent predictors for PVR. Conclusions: Male gender and surgical history (palliation, VSD closure approach) significantly affected the long-term outcomes in rToF patients and should be taken into consideration in the follow-up management and in PVR timing in this patient population. Full article

(This article belongs to the Special Issue New Advances in the Diagnosis and Treatment of Congenital Heart Disease)

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Review

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16 pages, 5801 KiB

Open AccessReview

Genetic Basis, New Diagnostic Approaches, and Updated Therapeutic Strategies of the Syndromic Aortic Diseases: Marfan, Loeys–Dietz, and Vascular Ehlers–Danlos Syndrome

by Laura Asta, Gianluca A. D’Angelo, Daniele Marinelli and Umberto Benedetto

Int. J. Environ. Res. Public Health 2023, 20(16), 6615; https://doi.org/10.3390/ijerph20166615 - 20 Aug 2023

Cited by 7 | Viewed by 3191

Abstract

Syndromic aortic diseases (SADs) encompass various pathological manifestations affecting the aorta caused by known genetic factors, such as aneurysms, dissections, and ruptures. However, the genetic mutation underlying aortic pathology also gives rise to clinical manifestations affecting other vessels and systems. As a consequence, the main syndromes currently identified as Marfan, Loeys–Dietz, and vascular Ehlers–Danlos are characterized by a complex clinical picture. In this contribution, we provide an overview of the genetic mutations currently identified in order to have a better understanding of the pathogenic mechanisms. Moreover, an update is presented on the basis of the most recent diagnostic criteria, which enable an early diagnosis. Finally, therapeutic strategies are proposed with the goal of improving the rates of patient survival and the quality of life of those affected by these SADs. Full article

(This article belongs to the Special Issue New Advances in the Diagnosis and Treatment of Congenital Heart Disease)

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13 pages, 1400 KiB

Open AccessReview

Telemedicine in Adult Congenital Heart Disease: Usefulness of Digital Health Technology in the Assistance of Critical Patients

by Nunzia Borrelli, Nicola Grimaldi, Giovanni Papaccioli, Flavia Fusco, Michela Palma and Berardo Sarubbi

Int. J. Environ. Res. Public Health 2023, 20(10), 5775; https://doi.org/10.3390/ijerph20105775 - 10 May 2023

Cited by 8 | Viewed by 2606

Abstract

The number of adults with congenital heart disease (ACHD) has progressively increased in recent years to surpass that of children. This population growth has produced a new demand for health care. Moreover, the 2019 coronavirus pandemic has caused significant changes and has underlined the need for an overhaul of healthcare delivery. As a result, telemedicine has emerged as a new strategy to support a patient-based model of specialist care. In this review, we would like to highlight the background knowledge and offer an integrated care strategy for the longitudinal assistance of ACHD patients. In particular, the emphasis is on recognizing these patients as a special population with special requirements in order to deliver effective digital healthcare. Full article

(This article belongs to the Special Issue New Advances in the Diagnosis and Treatment of Congenital Heart Disease)

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Other

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10 pages, 1676 KiB

Open AccessCase Report

Sudden Cardiac Arrest in an Adult with Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery (ALCAPA): Case Report

by Francesca Romana Prandi, Ali N. Zaidi, Gina LaRocca, Michael Hadley, Maria Riasat, Malcolm O. Anastasius, Pedro R. Moreno, Samin Sharma, Annapoorna Kini, Raghav Murthy, Percy Boateng and Stamatios Lerakis

Int. J. Environ. Res. Public Health 2022, 19(3), 1554; https://doi.org/10.3390/ijerph19031554 - 29 Jan 2022

Cited by 5 | Viewed by 3656

Abstract

Introduction: Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare coronary artery anomaly that carries 90% mortality in the first year of life when left untreated. The diagnosis of ALCAPA is rare in adulthood, and it includes a broad spectrum of clinical manifestations, including sudden cardiac death (SCD). Case report: We report a rare case of resuscitated sudden cardiac arrest in a 55-year-old female, who was diagnosed with ALCAPA and underwent successful surgical correction and implantable cardioverter defibrillator (ICD) implantation for secondary prevention. Discussion: ALCAPA diagnosis is not confined to childhood, and it represents a rare cause of life-threatening arrhythmias and SCD in the adult population. Surgical correction is recommended, regardless of age, presence of symptoms or inducible myocardial ischemia. Multimodality imaging is crucial for diagnosis, management planning and follow up. Assessment of the risk of recurrent ventricular arrhythmias, despite full revascularization, should be performed in all adults with ALCAPA. Myocardial scar detected via late gadolinium enhancement represents a potential irreversible substrate for ventricular arrhythmias, and it provides additional information to evaluate indication of an ICD for secondary prevention. Full article

(This article belongs to the Special Issue New Advances in the Diagnosis and Treatment of Congenital Heart Disease)

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