Advances in Pediatric Heart Failure: Congenital Heart Disease and Cardiomyopathies

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

Deadline for manuscript submissions: closed (31 January 2024) | Viewed by 3744

Special Issue Editors


E-Mail
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

E-Mail Website
Guest Editor
Department of Experimental and Clinical Medicine, University of Florence, 50121 Florence, Italy
Interests: clinical and molecular basis of cardiomyopathies; metabolic pathways involved in cardiomyopathies; innovation in pharmacological treatment and clinical trials in patients with inherited heart diseases
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital and University College London Institute of Cardiovascular Science, London WC1E 6DD, UK
Interests: inherited cardiac conditions; cardiomyopathy; cardiovascular genetics; sudden cardiac death

E-Mail Website
Guest Editor
Meyer Children’s Hospital, Florence, Italy
Interests: paediatric diseases

Special Issue Information

Dear Colleagues,

In recent decades, we have witnessed extraordinary progress both in the field of congenital heart diseases and of cardiomyopathies. These advancements are largely driven by early cardiac surgery and interventional procedures, currently performed in very young patients, as well as tremendous improvement in diagnostic tools, from advanced imaging to genetics. Nevertheless, heart failure in children and adolescents remains largely uncharted territory in cardiovascular medicine. Research initiatives in pediatric cohorts are limited, and management is often based on ‘adaptation’ of adult guidelines. An age-specific and evidence-based approach is sorely needed. A more comprehensive approach to the problems will require multidisciplinary, concerted efforts, uniting the two most prominent areas: congenital heart disease and genetic cardiomyopathies.

The international symposium, “Advances in Pediatric Heart Failure: Congenital Disease and Cardiomyopathies”, is scheduled to take place in Florence in April 2023. It is supported by an unrestricted grant by Fondazione Menarini (as was the case for the previous edition in 2018) and aims to discuss the state-of-the-art management in children and adolescents with heart failure, bringing together an international faculty of experts in both fields.

The issue will collect a selection of reviews from the participants, combining these two different but complementary perspectives, as anticipated by the title. We hope that the synergy of such rich and diverse areas of expertise will help advance the field and improve the outlook of our youngest patients.

Dr. Silvia Favilli
Prof. Dr. Iacopo Olivotto
Dr. Juan Pablo Kaski
Dr. Alberto Zanobini
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.

Published Papers (4 papers)

Order results
Result details
Select all
Export citation of selected articles as:

Research

Jump to: Review

11 pages, 1199 KiB  
Article
Cardiac Involvement in Classical Organic Acidurias: Clinical Profile and Outcome in a Pediatric Cohort
by Silvia Passantino, Serena Chiellino, Francesca Girolami, Mattia Zampieri, Giovanni Battista Calabri, Gaia Spaziani, Elena Bennati, Giulio Porcedda, Elena Procopio, Iacopo Olivotto and Silvia Favilli
Diagnostics 2023, 13(24), 3674; https://doi.org/10.3390/diagnostics13243674 - 15 Dec 2023
Viewed by 660
Abstract
Background: Cardiac involvement is reported in a significant proportion of patients with classical organic acidurias (OAs), contributing to disability and premature death. Different cardiac phenotypes have been described, among which dilated cardiomyopathy (DCM) is predominant. Despite recent progress in diagnosis and treatment, the [...] Read more.
Background: Cardiac involvement is reported in a significant proportion of patients with classical organic acidurias (OAs), contributing to disability and premature death. Different cardiac phenotypes have been described, among which dilated cardiomyopathy (DCM) is predominant. Despite recent progress in diagnosis and treatment, the natural history of patients with OAs remains unresolved, specifically with regard to the impact of cardiac complications. We therefore performed a retrospective study to address this issue at our Referral Center for Pediatric Inherited Errors of Metabolism. Methods: Sixty patients with OAs (propionic (PA), methylmalonic (MMA) and isovaleric acidemias and maple syrup urine disease) diagnosed from 2000 to 2022 were systematically assessed at baseline and at follow-up. Results: Cardiac anomalies were found in 23/60 OA patients, all with PA or MMA, represented by DCM (17/23 patients) and/or acquired long QT syndrome (3/23 patients). The presence of DCM was associated with the worst prognosis. The rate of occurrence of major adverse cardiac events (MACEs) at 5 years was 55% in PA with cardiomyopathy; 35% in MMA with cardiomyopathy; and 23% in MMA without cardiomyopathy. Liver transplantation was performed in seven patients (12%), all with PA or MMA, due to worsening cardiac impairment, and led to the stabilization of metabolic status and cardiac function. Conclusions: Cardiac involvement was documented in about one third of children diagnosed with classical OAs, confined to PA and MMA, and was often associated with poor outcome in over 50%. Etiological diagnosis of OAs is essential in guiding management and risk stratification. Full article
Show Figures

Figure 1

10 pages, 472 KiB  
Article
Prognostic Value of Tpeak–Tend Interval in Early Diagnosis of Duchenne Muscular Dystrophy Cardiomyopathy
by Serra Baskan, Pelin Karaca Ozer, Huseyin Orta, Doruk Ozbingol, Mustafa Lutfi Yavuz, Elif Ayduk Govdeli, Kemal Nisli and Kazim Oztarhan
Diagnostics 2023, 13(14), 2381; https://doi.org/10.3390/diagnostics13142381 - 15 Jul 2023
Viewed by 887
Abstract
The most common cause of death in patients with Duchenne muscular dystrophy (DMD) is cardiomyopathy. Our aim was to investigate the relationship between the Tpeak–Tend (Tp-e) interval and the premature ventricular contraction (PVC) burden and therefore early arrhythmic risk and cardiac involvement in [...] Read more.
The most common cause of death in patients with Duchenne muscular dystrophy (DMD) is cardiomyopathy. Our aim was to investigate the relationship between the Tpeak–Tend (Tp-e) interval and the premature ventricular contraction (PVC) burden and therefore early arrhythmic risk and cardiac involvement in DMD patients. Twenty-five patients with DMD followed by pediatric cardiology were included in the study. Those with a frequency of <1% PVC in the 24 h Holter were assigned to Group 1 (n = 15), and those with >1% were assigned to Group 2 (n = 10). Comparisons were made with healthy controls (n = 27). Left ventricular ejection fraction (LVEF) was lowest in Group 2 and highest in the control group (p < 0.001). LV end-diastolic diameter was greater in Group 2 than in Group 1 and the control group (p = 0.005). Pro-BNP and troponin levels were higher in Group 1 and Group 2 than in the control group (p = 0.001 and p < 0.001, respectively). Tp-e interval was longer in Group 2 compared to Group 1 and the control group (p < 0.001). The LVEF (OR 0.879, 95% CI 0.812–0.953; p = 0.002) and Tp-e interval (OR 1.181, 95% CI 1.047–1.332; p = 0.007) were independent predictors of PVC/24 h frequency of >1%. A Tp-e interval > 71.65 ms predicts PVC > 1%, with a sensitivity of 80% and a specificity of 90% (AUC = 0.842, 95% CI (0.663–1.000), p = 0.001). Determination of Tp-e prolongation from ECG data may help in the determination of cardiac involvement and early diagnosis of arrhythmic risk in DMD. Full article
Show Figures

Figure 1

Review

Jump to: Research

16 pages, 1424 KiB  
Review
Left Ventricular Non-Compaction in Children: Aetiology and Diagnostic Criteria
by Emanuele Monda, Gianantonio De Michele, Gaetano Diana, Federica Verrillo, Marta Rubino, Annapaola Cirillo, Adelaide Fusco, Federica Amodio, Martina Caiazza, Francesca Dongiglio, Giuseppe Palmiero, Pietro Buono, Maria Giovanna Russo and Giuseppe Limongelli
Diagnostics 2024, 14(1), 115; https://doi.org/10.3390/diagnostics14010115 - 04 Jan 2024
Viewed by 793
Abstract
Left ventricular non-compaction (LVNC) is a heterogeneous myocardial disorder characterized by prominent trabeculae protruding into the left ventricular lumen and deep intertrabecular recesses. LVNC can manifest in isolation or alongside other heart muscle diseases. Its occurrence among children is rising due to advancements [...] Read more.
Left ventricular non-compaction (LVNC) is a heterogeneous myocardial disorder characterized by prominent trabeculae protruding into the left ventricular lumen and deep intertrabecular recesses. LVNC can manifest in isolation or alongside other heart muscle diseases. Its occurrence among children is rising due to advancements in imaging techniques. The origins of LVNC are diverse, involving both genetic and acquired forms. The clinical manifestation varies greatly, with some cases presenting no symptoms, while others typically manifesting with heart failure, systemic embolism, and arrhythmias. Diagnosis mainly relies on assessing heart structure using imaging tools like echocardiography and cardiac magnetic resonance. However, the absence of a universally agreed-upon standard and limitations in diagnostic criteria have led to ongoing debates in the scientific community regarding the most reliable methods. Further research is crucial to enhance the diagnosis of LVNC, particularly in early life stages. Full article
Show Figures

Figure 1

17 pages, 4181 KiB  
Review
Focus on Paediatric Restrictive Cardiomyopathy: Frequently Asked Questions
by Mattia Zampieri, Chiara Di Filippo, Chiara Zocchi, Vera Fico, Cristina Golinelli, Gaia Spaziani, Giovanni Calabri, Elena Bennati, Francesca Girolami, Alberto Marchi, Silvia Passantino, Giulio Porcedda, Guglielmo Capponi, Alessia Gozzini, Iacopo Olivotto, Luca Ragni and Silvia Favilli
Diagnostics 2023, 13(24), 3666; https://doi.org/10.3390/diagnostics13243666 - 14 Dec 2023
Viewed by 946
Abstract
Restrictive cardiomyopathy (RCM) is characterized by restrictive ventricular pathophysiology determined by increased myocardial stiffness. While suspicion of RCM is initially raised by clinical evaluation and supported by electrocardiographic and echocardiographic findings, invasive hemodynamic evaluation is often required for diagnosis and management of patients [...] Read more.
Restrictive cardiomyopathy (RCM) is characterized by restrictive ventricular pathophysiology determined by increased myocardial stiffness. While suspicion of RCM is initially raised by clinical evaluation and supported by electrocardiographic and echocardiographic findings, invasive hemodynamic evaluation is often required for diagnosis and management of patients during follow-up. RCM is commonly associated with a poor prognosis and a high incidence of heart failure, and PH is reported in paediatric patients with RCM. Currently, only a few therapies are available for specific RCM aetiologies. Early referral to centres for advanced heart failure treatment is often necessary. The aim of this review is to address questions frequently asked when facing paediatric patients with RCM, including issues related to aetiologies, clinical presentation, diagnostic process and prognosis. Full article
Show Figures

Figure 1

Back to TopTop