Journal of Cardiovascular Development and Disease

Research

11 pages, 692 KiB

Open AccessArticle

Long Term Follow-Up of Patients with Systemic Right Ventricle and Biventricular Physiology: A Single Centre Experience

by Cristina Ciuca, Anna Balducci, Emanuela Angeli, Mariateresa Di Dio, Gabriele Egidy Assenza, Elisabetta Mariucci, Luca Ragni, Luigi Lovato, Fabio Niro, Valentina Gesuete, Lucio Careddu, Ylenia Bartolacelli, Ambra Bulgarelli, Andrea Donti and Gaetano Domenico Gargiulo

J. Cardiovasc. Dev. Dis. 2023, 10(5), 219; https://doi.org/10.3390/jcdd10050219 - 17 May 2023

Cited by 1 | Viewed by 1847

Abstract

Background: A progressively increasing prevalence of congenital heart disease (CHD) in adulthood has been noticed in recent decades; CHD cases with a systemic right ventricle have a poorer outcome. Methods: Seventy-three patients with SRV evaluated in an outpatient clinic between 2014 and 2020 [...] Read more.

Background: A progressively increasing prevalence of congenital heart disease (CHD) in adulthood has been noticed in recent decades; CHD cases with a systemic right ventricle have a poorer outcome. Methods: Seventy-three patients with SRV evaluated in an outpatient clinic between 2014 and 2020 were enrolled in this study. Thirty-four patients had a transposition of the great arteries treated with an atrial switch operation; 39 patients had a congenitally corrected transposition of the great arteries (ccTGA). Results: Mean age at the first evaluation was 29.6 ± 14.2 years; 48% of the patients were female. The NYHA class at the visit was III or IV in 14% of the cases. Thirteen patients had at least one previous pregnancy. In 25% of the cases, complications occurred during pregnancy. Survival free from adverse events was 98.6% at one year and 90% at 6-year follow-up without any difference between the two groups. Two patients died and one received heart transplantation during follow-up. The most common adverse event during follow-up was the presence of arrhythmia requiring hospitalization (27.1%), followed by heart failure (12.3%). The presence of LGE together with lower exercise capacity, higher NYHA class and more dilated and/or hypokinetic RV predicted a poorer outcome. Quality of life was similar to the QoL of the Italian population. Conclusions: Long-term follow-up of patients with a systemic right ventricle is characterized by a high incidence of clinical events, prevalently arrhythmias and heart failure, which cause most of the unscheduled hospitalizations. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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20 pages, 6362 KiB

Open AccessArticle

Cardiac Fibrosis and Innervation State in Uncorrected and Corrected Transposition of the Great Arteries: A Postmortem Histological Analysis and Systematic Review

by Leo J. Engele, Roel L. F. van der Palen, Anastasia D. Egorova, Margot M. Bartelings, Lambertus J. Wisse, Claire A. Glashan, Philippine Kiès, Hubert W. Vliegen, Mark G. Hazekamp, Barbara J. M. Mulder, Marco C. De Ruiter, Berto J. Bouma and Monique R. M. Jongbloed

J. Cardiovasc. Dev. Dis. 2023, 10(4), 180; https://doi.org/10.3390/jcdd10040180 - 20 Apr 2023

Cited by 5 | Viewed by 2213

Abstract

In the transposition of the great arteries (TGA), alterations in hemodynamics and oxygen saturation could result in fibrotic remodeling, but histological studies are scarce. We aimed to investigate fibrosis and innervation state in the full spectrum of TGA and correlate findings to clinical [...] Read more.

In the transposition of the great arteries (TGA), alterations in hemodynamics and oxygen saturation could result in fibrotic remodeling, but histological studies are scarce. We aimed to investigate fibrosis and innervation state in the full spectrum of TGA and correlate findings to clinical literature. Twenty-two human postmortem TGA hearts, including TGA without surgical correction (n = 8), after Mustard/Senning (n = 6), and arterial switch operation (ASO, n = 8), were studied. In newborn uncorrected TGA specimens (1 day–1.5 months), significantly more interstitial fibrosis (8.6% ± 3.0) was observed compared to control hearts (5.4% ± 0.8, p = 0.016). After the Mustard/Senning procedure, the amount of interstitial fibrosis was significantly higher (19.8% ± 5.1, p = 0.002), remarkably more in the subpulmonary left ventricle (LV) than in the systemic right ventricle (RV). In TGA-ASO, an increased amount of fibrosis was found in one adult specimen. The amount of innervation was diminished from 3 days after ASO (0.034% ± 0.017) compared to uncorrected TGA (0.082% ± 0.026, p = 0.036). In conclusion, in these selected postmortem TGA specimens, diffuse interstitial fibrosis was already present in newborn hearts, suggesting that altered oxygen saturations may already impact myocardial structure in the fetal phase. TGA-Mustard/Senning specimens showed diffuse myocardial fibrosis in the systemic RV and, remarkably, in the LV. Post-ASO, decreased uptake of nerve staining was observed, implicating (partial) myocardial denervation after ASO. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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10 pages, 479 KiB

Open AccessArticle

Fluid Overload in Pediatric Univentricular Patients Undergoing Fontan Completion

by Victorien A. C. Luppes, Ariane Willems, Mark G. Hazekamp, Nico A. Blom and Arend D. J. Ten Harkel

J. Cardiovasc. Dev. Dis. 2023, 10(4), 156; https://doi.org/10.3390/jcdd10040156 - 5 Apr 2023

Cited by 1 | Viewed by 2213

Abstract

Background: Fluid overload (FO) is known to occur frequently after pediatric cardiac surgery and is associated with morbidity and mortality. Fontan patients are at risk to develop FO due to their critical fluid balance. Furthermore, they need an adequate preload in order to [...] Read more.

Background: Fluid overload (FO) is known to occur frequently after pediatric cardiac surgery and is associated with morbidity and mortality. Fontan patients are at risk to develop FO due to their critical fluid balance. Furthermore, they need an adequate preload in order to maintain adequate cardiac output. This study aimed to identify FO in patients undergoing Fontan completion and the impact of FO on pediatric intensive care unit (PICU) length of stay (LOS) and cardiac events, defined as death, cardiac re-surgery or PICU re-hospitalization during follow-up. Methods: In this retrospective single center study, the presence of FO was assessed in 43 consecutive children undergoing Fontan completion. Results: Patients with more than 5% maximum FO had an extended PICU LOS (3.9 [2.9–6.9] vs. 1.9 [1.0–2.6] days; p < 0.001) and an increased length of mechanical ventilation (21 [9–121] vs. 6 [5–10] h; p = 0.001). Regression analysis demonstrated that an increase of 1% maximum FO was associated with a prolonged PICU LOS of 13% (95% CI 1.042–1.227; p = 0.004). Furthermore, patients with FO were at higher risk to develop cardiac events. Conclusions: FO is associated with short-term and long-term complications. Further studies are needed to determine the impact of FO on the outcome in this specific population. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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11 pages, 2255 KiB

Open AccessArticle

Clinical Characteristics of Coronary-to-Pulmonary Artery Fistula in Patients with Pulmonary Atresia and Ventricular Septal Defect

by Naofumi F. Sumitomo, Kazuki Kodo, Tadashi Inoue, Takayuki Oyanagi and Hiroyuki Yamagishi

J. Cardiovasc. Dev. Dis. 2023, 10(1), 17; https://doi.org/10.3390/jcdd10010017 - 3 Jan 2023

Viewed by 2554

Abstract

The existence of a coronary-to-pulmonary artery fistula (CPF) in pulmonary atresia with ventricular septal defect (PAVSD) potentially affects treatment; however, its clinical features have not been comprehensively described due to the disease’s rarity. We reviewed 69 cases from 42 studies to reveal the [...] Read more.

The existence of a coronary-to-pulmonary artery fistula (CPF) in pulmonary atresia with ventricular septal defect (PAVSD) potentially affects treatment; however, its clinical features have not been comprehensively described due to the disease’s rarity. We reviewed 69 cases from 42 studies to reveal the clinical overview of patients with CPF and PAVSD. Among the included patients, the male-to-female ratio was exactly 1:1, and only two patients (3%) exhibited the 22q11.2 microdeletion syndrome. Regarding anatomical features, CPFs originated from the left coronary artery in 65% of patients, and 62% had other major aortopulmonary collateral arteries. Thirty-nine percent of patients had a definitive CPF diagnosis at 0 years of age, whereas 10% were diagnosed in adulthood. Seventy percent underwent catheter angiography to obtain a definitive CPF diagnosis. Ninety-five percent of patients underwent cardiac surgery, and among them, 43% underwent palliative surgery, whereas 52% underwent one-stage repair. Four patients including three adult patients developed cardiac dysfunction due to myocardial ischemia, and three of them exhibited improved cardiac function after the intervention for CPF. Of all the patients, 88% survived and 12% died. The surgical strategy and prognosis were similar to those in PAVSD patients without CPF. This review provides detailed clinical phenotypes that are potentially useful in enhancing the management of patients with this rare disease. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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19 pages, 1039 KiB

Open AccessArticle

The Relationship of Maternal Gestational Mass Spectrometry-Derived Metabolites with Offspring Congenital Heart Disease: Results from Multivariable and Mendelian Randomization Analyses

by Kurt Taylor, Nancy McBride, Jian Zhao, Sam Oddie, Rafaq Azad, John Wright, Ole A. Andreassen, Isobel D. Stewart, Claudia Langenberg, Maria Christine Magnus, Maria Carolina Borges, Massimo Caputo and Deborah A. Lawlor

J. Cardiovasc. Dev. Dis. 2022, 9(8), 237; https://doi.org/10.3390/jcdd9080237 - 27 Jul 2022

Cited by 7 | Viewed by 4110

Abstract

Background: It is plausible that maternal pregnancy metabolism influences the risk of offspring congenital heart disease (CHD). We sought to explore this through a systematic approach using different methods and data. Methods: We undertook multivariable logistic regression of the odds of CHD for [...] Read more.

Background: It is plausible that maternal pregnancy metabolism influences the risk of offspring congenital heart disease (CHD). We sought to explore this through a systematic approach using different methods and data. Methods: We undertook multivariable logistic regression of the odds of CHD for 923 mass spectrometry (MS)-derived metabolites in a sub-sample of a UK birth cohort (Born in Bradford (BiB); N = 2605, 46 CHD cases). We considered metabolites reaching a p-value threshold <0.05 to be suggestively associated with CHD. We sought validation of our findings, by repeating the multivariable regression analysis within the BiB cohort for any suggestively associated metabolite that was measured by nuclear magnetic resonance (NMR) or clinical chemistry (N = 7296, 87 CHD cases), and by using genetic risk scores (GRS: weighted genetic risk scores of single nucleotide polymorphisms (SNPs) that were associated with any suggestive metabolite) in Mendelian randomization (MR) analyses. The MR analyses were performed in BiB and two additional European birth cohorts (N = 38,662, 319 CHD cases). Results: In the main multivariable analyses, we identified 44 metabolites suggestively associated with CHD, including those from the following super pathways: amino acids, lipids, co-factors and vitamins, xenobiotics, nucleotides, energy, and several unknown molecules. Of these 44, isoleucine and leucine were available in the larger BiB cohort (NMR), and for these the results were validated. The MR analyses were possible for 27/44 metabolites and for 11 there was consistency with the multivariable regression results. Conclusions: In summary, we have used complimentary data sources and statistical techniques to construct layers of evidence. We found that pregnancy amino acid metabolism, androgenic steroid lipids, and levels of succinylcarnitine could be important contributing factors for CHD. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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11 pages, 864 KiB

Open AccessArticle

Peak Oxygen Uptake on Cardiopulmonary Exercise Test Is a Predictor for Severe Arrhythmic Events during Three-Year Follow-Up in Patients with Complex Congenital Heart Disease

by Felix von Sanden, Svetlana Ptushkina, Julia Hock, Celina Fritz, Jürgen Hörer, Gabriele Hessling, Peter Ewert, Alfred Hager and Cordula M. Wolf

J. Cardiovasc. Dev. Dis. 2022, 9(7), 215; https://doi.org/10.3390/jcdd9070215 - 4 Jul 2022

Cited by 1 | Viewed by 2269

Abstract

Patients with congenital heart disease (CHD) are at increased risk for severe arrhythmia and sudden cardiac death (SCD). Although implantable cardioverter defibrillators (ICD) effectively prevent SCD, risk stratification for primary prophylaxis in patients with CHD remains challenging. Patients with complex CHD undergoing CPET [...] Read more.

Patients with congenital heart disease (CHD) are at increased risk for severe arrhythmia and sudden cardiac death (SCD). Although implantable cardioverter defibrillators (ICD) effectively prevent SCD, risk stratification for primary prophylaxis in patients with CHD remains challenging. Patients with complex CHD undergoing CPET were included in this single-center study. Univariable and backwards stepwise multivariable logistic regression models were used to identify variables associated with the endpoint of severe arrhythmic event during three years of follow-up. Cut-off values were established with receiver operating characteristic (ROC) curve analysis. Survival analysis was conducted via Kaplan–Meier plots. Severe Arrhythmia was documented in 97 of 1194 patients (8.1%/3 years). Independent risk factors for severe arrhythmia during follow-up were old age and a low peak oxygen uptake (

\dot{V}

O₂peak) on multivariable analysis. Patients with more advanced age and with

\dot{V}

O₂peak values of less than 24.9 mL/min/kg were at significantly increased risk for the occurrence of severe arrhythmias during follow-up. The combined analysis of both risk factors yielded an additional benefit for risk assessment. Age at CPET and

\dot{V}

O₂peak predict the risk for severe arrhythmic events and should be considered for risk stratification of SCD in patients with complex CHD. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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Review

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18 pages, 2280 KiB

Open AccessEditor’s ChoiceReview

Tricuspid Valve Regurgitation in Hypoplastic Left Heart Syndrome: Current Insights and Future Perspectives

by Colton J. Ross, Arshid Mir, Harold M. Burkhart, Gerhard A. Holzapfel and Chung-Hao Lee

J. Cardiovasc. Dev. Dis. 2023, 10(3), 111; https://doi.org/10.3390/jcdd10030111 - 7 Mar 2023

Cited by 3 | Viewed by 5308

Abstract

Hypoplastic Left Heart Syndrome (HLHS) is a congenital heart defect that requires a three-stage surgical palliation to create a single ventricle system in the right side of the heart. Of patients undergoing this cardiac palliation series,

25 %

will develop tricuspid regurgitation (TR), [...] Read more.

Hypoplastic Left Heart Syndrome (HLHS) is a congenital heart defect that requires a three-stage surgical palliation to create a single ventricle system in the right side of the heart. Of patients undergoing this cardiac palliation series,

25 %

will develop tricuspid regurgitation (TR), which is associated with an increased mortality risk. Valvular regurgitation in this population has been extensively studied to understand indicators and mechanisms of comorbidity. In this article, we review the current state of research on TR in HLHS, including identified valvular anomalies and geometric properties as the main reasons for the poor prognosis. After this review, we present some suggestions for future TR-related studies to answer the central question: What are the predictors of TR onset during the three palliation stages? These studies involve (i) the use of engineering-based metrics to evaluate valve leaflet strains and predict tissue material properties, (ii) perform multivariate analyses to identify TR predictors, and (iii) develop predictive models, particularly using longitudinally tracked patient cohorts to foretell patient-specific trajectories. Regarded together, these ongoing and future efforts will result in the development of innovative tools that can aid in surgical timing decisions, in prophylactic surgical valve repair, and in the refinement of current intervention techniques. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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15 pages, 1014 KiB

Open AccessReview

Early Mortality in Infants Born with Neonatally Operated Congenital Heart Defects and Low or Very-Low Birthweight: A Systematic Review and Meta-Analysis

by Neil Derridj, Ali Ghanchi, Damien Bonnet, Pauline Adnot, Makan Rahshenas, Laurent J. Salomon, Jérémie F. Cohen and Babak Khoshnood

J. Cardiovasc. Dev. Dis. 2023, 10(2), 47; https://doi.org/10.3390/jcdd10020047 - 27 Jan 2023

Cited by 4 | Viewed by 2403

Abstract

Mortality outcomes of children with isolated neonatally operated congenital heart defects (CHDs) born with a low (LBW), moderately low (MLBW) or very-low birthweight (VLBW) remain ambiguous. We searched Medline and Embase (inception until October 2021) and included studies that evaluated early mortality. The [...] Read more.

Mortality outcomes of children with isolated neonatally operated congenital heart defects (CHDs) born with a low (LBW), moderately low (MLBW) or very-low birthweight (VLBW) remain ambiguous. We searched Medline and Embase (inception until October 2021) and included studies that evaluated early mortality. The risk of bias was assessed using the Critical Appraisal Skills Program cohort checklist. Meta-analysis involved random-effects models. We explored variability in mortality across birthweight subgroups, CHD types, and study designs. From 2035 reports, we included 23 studies in qualitative synthesis, and the meta-analysis included 11 studies (1658 CHD cases), divided into 30 subcohorts. The risk of bias was low in 4/11 studies included in the meta-analysis. Summary mortality before discharge or within one month after surgery was 37% (95%CI 27–47). Early mortality varied by birthweight (VLBW 56%, MLBW 15%, LBW 16%; p = 0.003) and CHD types (hypoplastic left heart syndrome (HLHS) 50%, total anomalous pulmonary venous return (TAPVR) 47%, transposition of the great arteries (TGA) 34%, coarctation of the aorta (CoA) 16%; p = 0.13). Mortality was higher in population-based studies (49% vs. 10%; p = 0.006). One-third of infants born with neonatally operated isolated CHDs and LBW, MLBW, or VLBW died within 30 days after surgery. Mortality varied across infant and study characteristics. These results may help clinicians assess neonatal prognosis. PROSPERO registration CRD42020170289. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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14 pages, 311 KiB

Open AccessReview

Pulmonary Vascular Sequelae of Palliated Single Ventricle Circulation: Arteriovenous Malformations and Aortopulmonary Collaterals

by Andrew D. Spearman and Salil Ginde

J. Cardiovasc. Dev. Dis. 2022, 9(9), 309; https://doi.org/10.3390/jcdd9090309 - 17 Sep 2022

Cited by 9 | Viewed by 2161

Abstract

Children and adults with single ventricle congenital heart disease (CHD) develop many sequelae during staged surgical palliation. Universal pulmonary vascular sequelae in this patient population include two inter-related but distinct complications: pulmonary arteriovenous malformations (PAVMs) and aortopulmonary collaterals (APCs). This review highlights what [...] Read more.

Children and adults with single ventricle congenital heart disease (CHD) develop many sequelae during staged surgical palliation. Universal pulmonary vascular sequelae in this patient population include two inter-related but distinct complications: pulmonary arteriovenous malformations (PAVMs) and aortopulmonary collaterals (APCs). This review highlights what is known and unknown about these vascular sequelae focusing on diagnostic testing, pathophysiology, and areas in need of further research. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

24 pages, 7598 KiB

Open AccessReview

Effect of Blood Flow on Cardiac Morphogenesis and Formation of Congenital Heart Defects

by Fernando Trinidad, Floyd Rubonal, Ignacio Rodriguez de Castro, Ida Pirzadeh, Rabin Gerrah, Arash Kheradvar and Sandra Rugonyi

J. Cardiovasc. Dev. Dis. 2022, 9(9), 303; https://doi.org/10.3390/jcdd9090303 - 8 Sep 2022

Cited by 5 | Viewed by 6178

Abstract

Congenital heart disease (CHD) affects about 1 in 100 newborns and its causes are multifactorial. In the embryo, blood flow within the heart and vasculature is essential for proper heart development, with abnormal blood flow leading to CHD. Here, we discuss how blood [...] Read more.

Congenital heart disease (CHD) affects about 1 in 100 newborns and its causes are multifactorial. In the embryo, blood flow within the heart and vasculature is essential for proper heart development, with abnormal blood flow leading to CHD. Here, we discuss how blood flow (hemodynamics) affects heart development from embryonic to fetal stages, and how abnormal blood flow solely can lead to CHD. We emphasize studies performed using avian models of heart development, because those models allow for hemodynamic interventions, in vivo imaging, and follow up, while they closely recapitulate heart defects observed in humans. We conclude with recommendations on investigations that must be performed to bridge the gaps in understanding how blood flow alone, or together with other factors, contributes to CHD. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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20 pages, 22474 KiB

Open AccessReview

3D Approaches in Complex CHD: Where Are We? Funny Printing and Beautiful Images, or a Useful Tool?

by Adriani Spanaki, Saleha Kabir, Natasha Stephenson, Milou P. M. van Poppel, Valentina Benetti and John Simpson

J. Cardiovasc. Dev. Dis. 2022, 9(8), 269; https://doi.org/10.3390/jcdd9080269 - 15 Aug 2022

Cited by 9 | Viewed by 3298

Abstract

Echocardiography, CT and MRI have a crucial role in the management of congenital heart disease (CHD) patients. All of these modalities can be presented in a 2D or a 3D rendered format. The aim of this paper is to review the key advantages [...] Read more.

Echocardiography, CT and MRI have a crucial role in the management of congenital heart disease (CHD) patients. All of these modalities can be presented in a 2D or a 3D rendered format. The aim of this paper is to review the key advantages and potential limitations, as well as the future challenges of a 3D approach in each imaging modality. The focus of this review is on anatomic rather than functional assessment. Conventional 2D echocardiography presents limitations when imaging complex lesions, whereas 3D imaging depicts the anatomy in all dimensions. CT and MRI can visualise extracardiac vasculature and guide complex biventricular repair. Three-dimensional printed models can be used in depicting complex intracardiac relationships and defining the surgical strategy in specific lesions. Extended reality imaging retained dynamic cardiac motion holds great potential for planning surgical and catheter procedures. Overall, the use of 3D imaging has resulted in a better understanding of anatomy, with a direct impact on the surgical and catheter approach, particularly in more complex cases. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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22 pages, 1201 KiB

Open AccessEditor’s ChoiceReview

Congenital Heart Disease: The State-of-the-Art on Its Pharmacological Therapeutics

by Carlos Daniel Varela-Chinchilla, Daniela Edith Sánchez-Mejía and Plinio A. Trinidad-Calderón

J. Cardiovasc. Dev. Dis. 2022, 9(7), 201; https://doi.org/10.3390/jcdd9070201 - 26 Jun 2022

Cited by 7 | Viewed by 7466

Abstract

Congenital heart disease is one of the most common causes of death derived from malformations. Historically, its treatment has depended on timely diagnosis and early pharmacological and surgical interventions. Survival rates for patients with this disease have increased, primarily due to advancements in [...] Read more.

Congenital heart disease is one of the most common causes of death derived from malformations. Historically, its treatment has depended on timely diagnosis and early pharmacological and surgical interventions. Survival rates for patients with this disease have increased, primarily due to advancements in therapeutic choices, but mortality remains high. Since this disease is a time-sensitive pathology, pharmacological interventions are needed to improve clinical outcomes. Therefore, we analyzed the applications, dosage, and side effects of drugs currently used for treating congenital heart disease. Angiotensin-converting enzyme inhibitors, angiotensin receptor blockers, beta-blockers, and potassium-sparing diuretics have shown a mortality benefit in most patients. Other therapies, such as endothelin receptor antagonists, phosphodiesterase-5 inhibitors, prostaglandins, and soluble guanylyl cyclase stimulators, have benefited patients with pulmonary artery hypertension. Likewise, the adjunctive symptomatic treatment of these patients has further improved the outcomes, since antiarrhythmics, digoxin, and non-steroidal anti-inflammatory drugs have shown their benefits in these cases. Conclusively, these drugs also carry the risk of troublesome adverse effects, such as electrolyte imbalances and hemodynamic compromise. However, their benefits for survival, symptom improvement, and stabilization outweigh the possible complications from their use. Thus, cases must be assessed individually to accurately identify interventions that would be most beneficial for patients. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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16 pages, 1239 KiB

Open AccessEditor’s ChoiceReview

Epigenetics and Congenital Heart Diseases

by Léa Linglart and Damien Bonnet

J. Cardiovasc. Dev. Dis. 2022, 9(6), 185; https://doi.org/10.3390/jcdd9060185 - 9 Jun 2022

Cited by 14 | Viewed by 4480

Abstract

Congenital heart disease (CHD) is a frequent occurrence, with a prevalence rate of almost 1% in the general population. However, the pathophysiology of the anomalous heart development is still unclear in most patients screened. A definitive genetic origin, be it single-point mutation or [...] Read more.

Congenital heart disease (CHD) is a frequent occurrence, with a prevalence rate of almost 1% in the general population. However, the pathophysiology of the anomalous heart development is still unclear in most patients screened. A definitive genetic origin, be it single-point mutation or larger chromosomal disruptions, only explains about 35% of identified cases. The precisely choreographed embryology of the heart relies on timed activation of developmental molecular cascades, spatially and temporally regulated through epigenetic regulation: chromatin conformation, DNA priming through methylation patterns, and spatial accessibility to transcription factors. This multi-level regulatory network is eminently susceptible to outside disruption, resulting in faulty cardiac development. Similarly, the heart is unique in its dynamic development: growth is intrinsically related to mechanical stimulation, and disruption of the intrauterine environment will have a direct impact on fetal embryology. These two converging axes offer new areas of research to characterize the cardiac epigenetic regulation and identify points of fragility in order to counteract its teratogenic consequences. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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13 pages, 3394 KiB

Open AccessEditor’s ChoiceReview

The Significance of Ventricular Topology in the Analysis of Congenitally Malformed Hearts

by Adrian C. Crucean, Diane E. Spicer and Robert H. Anderson

J. Cardiovasc. Dev. Dis. 2022, 9(5), 155; https://doi.org/10.3390/jcdd9050155 - 12 May 2022

Cited by 2 | Viewed by 3155

Abstract

There are still confusing descriptions of how congenitally malformed hearts should be categorised, even in their simplest forms. Despite repeated attempts toward a unified and simplified analysis, morphologists and clinicians continue to use different nomenclatures. This variability has a profound impact not only [...] Read more.

There are still confusing descriptions of how congenitally malformed hearts should be categorised, even in their simplest forms. Despite repeated attempts toward a unified and simplified analysis, morphologists and clinicians continue to use different nomenclatures. This variability has a profound impact not only on how we communicate with patients but also on how the healthcare professionals produce clinical reports, research papers and educational and training materials, not to mention the impact on other levels such as managerial, administrative, coding, financial and media communications. Moreover, there are influences on how we actually treat patients based on a different understanding of nomenclature. This paper aims to explain a method of analysing the cardiac segments and their connections based on the current understanding of structural development. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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17 pages, 4942 KiB

Open AccessEditor’s ChoiceReview

Tachyarrhythmias in Congenital Heart Diseases: From Ion Channels to Catheter Ablation

by Victor Waldmann, Jean-Baptiste Guichard, Eloi Marijon and Paul Khairy

J. Cardiovasc. Dev. Dis. 2022, 9(2), 39; https://doi.org/10.3390/jcdd9020039 - 24 Jan 2022

Cited by 5 | Viewed by 3608

Abstract

Major advances in pediatric cardiology in recent decades, especially surgical techniques, have resulted in an increasing number of patients with congenital heart disease (CHD) surviving to adulthood. This has generated new challenges, particularly with regards to the late onset of complex arrhythmias. Abnormal [...] Read more.

Major advances in pediatric cardiology in recent decades, especially surgical techniques, have resulted in an increasing number of patients with congenital heart disease (CHD) surviving to adulthood. This has generated new challenges, particularly with regards to the late onset of complex arrhythmias. Abnormal anatomy, surgical scarring, chronic hypoxemia, hemodynamic compromise, neuro-hormonal abnormalities, and genetic factors can all contribute to creating a unique substrate for arrhythmia development. This review attempts to synthesize the current state of knowledge spanning the spectrum from underlying mechanisms of arrhythmias in patients with congenital heart disease to current ablative strategies. We discuss existing knowledge gaps and highlight important areas for future research. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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Other

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19 pages, 1066 KiB

Open AccessTechnical Note

Design and Harmonization Approach for the Multi-Institutional Neurocognitive Discovery Study (MINDS) of Adult Congenital Heart Disease (ACHD) Neuroimaging Ancillary Study: A Technical Note

by Ashok Panigrahy, Vanessa Schmithorst, Rafael Ceschin, Vince Lee, Nancy Beluk, Julia Wallace, Olivia Wheaton, Thomas Chenevert, Deqiang Qiu, James N Lee, Andrew Nencka, Borjan Gagoski, Jeffrey I. Berman, Weihong Yuan, Christopher Macgowan, James Coatsworth, Lazar Fleysher, Christopher Cannistraci, Lynn A. Sleeper, Arvind Hoskoppal, Candice Silversides, Rupa Radhakrishnan, Larry Markham, John F. Rhodes, Lauryn M. Dugan, Nicole Brown, Peter Ermis, Stephanie Fuller, Timothy Brett Cotts, Fred Henry Rodriguez, Ian Lindsay, Sue Beers, Howard Aizenstein, David C. Bellinger, Jane W. Newburger, Laura Glass Umfleet, Scott Cohen, Ali Zaidi and Michelle Gurvitz Show full author list Hide full author list

J. Cardiovasc. Dev. Dis. 2023, 10(9), 381; https://doi.org/10.3390/jcdd10090381 - 6 Sep 2023

Viewed by 2498

Abstract

Dramatic advances in the management of congenital heart disease (CHD) have improved survival to adulthood from less than 10% in the 1960s to over 90% in the current era, such that adult CHD (ACHD) patients now outnumber their pediatric counterparts. ACHD patients demonstrate [...] Read more.

Dramatic advances in the management of congenital heart disease (CHD) have improved survival to adulthood from less than 10% in the 1960s to over 90% in the current era, such that adult CHD (ACHD) patients now outnumber their pediatric counterparts. ACHD patients demonstrate domain-specific neurocognitive deficits associated with reduced quality of life that include deficits in educational attainment and social interaction. Our hypothesis is that ACHD patients exhibit vascular brain injury and structural/physiological brain alterations that are predictive of specific neurocognitive deficits modified by behavioral and environmental enrichment proxies of cognitive reserve (e.g., level of education and lifestyle/social habits). This technical note describes an ancillary study to the National Heart, Lung, and Blood Institute (NHLBI)-funded Pediatric Heart Network (PHN) “Multi-Institutional Neurocognitive Discovery Study (MINDS) in Adult Congenital Heart Disease (ACHD)”. Leveraging clinical, neuropsychological, and biospecimen data from the parent study, our study will provide structural–physiological correlates of neurocognitive outcomes, representing the first multi-center neuroimaging initiative to be performed in ACHD patients. Limitations of the study include recruitment challenges inherent to an ancillary study, implantable cardiac devices, and harmonization of neuroimaging biomarkers. Results from this research will help shape the care of ACHD patients and further our understanding of the interplay between brain injury and cognitive reserve. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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9 pages, 6997 KiB

Open AccessCase Report

Contemporary Management Strategies of Baffle Leaks in Adults with a Failing Systemic Right Ventricle Late after Atrial Switch: A Case Series and Literature Overview

by Ralph M. L. Neijenhuis, Madelien V. Regeer, Frank van der Kley, Hubert W. Vliegen, Monique R. M. Jongbloed, Philippine Kiès, Martin J. Schalij, J. Wouter Jukema and Anastasia D. Egorova

J. Cardiovasc. Dev. Dis. 2023, 10(3), 129; https://doi.org/10.3390/jcdd10030129 - 17 Mar 2023

Cited by 2 | Viewed by 2494

Abstract

Baffle leaks are a frequently encountered and often overlooked complication after the atrial switch procedure for transposition of the great arteries. Baffle leaks are present in up to 50% of non-selected patients, and while they initially may not cause clear symptoms, they can [...] Read more.

Baffle leaks are a frequently encountered and often overlooked complication after the atrial switch procedure for transposition of the great arteries. Baffle leaks are present in up to 50% of non-selected patients, and while they initially may not cause clear symptoms, they can complicate the hemodynamic course and influence the prognosis in this complex patient group. A shunt from the pulmonary venous atrium (PVA) to the systemic venous atrium (SVA) can lead to pulmonary overflow and subpulmonary left ventricular (LV) volume overload, while a shunt from the SVA to the PVA can result in (exercise-associated) cyanosis and paradoxical embolism. We report three cases of baffle leaks in patients with systemic right ventricular (sRV) failure late after the atrial switch procedure. Two symptomatic patients who presented with exercise-associated cyanosis due to SVA to PVA shunting over the baffle leak underwent successful percutaneous baffle leak closure with a septal occluder device. One patient with overt sRV failure and signs of subpulmonary LV volume overload due to PVA to SVA shunting was managed conservatively, as baffle leak closure was expected to lead to an increase in sRV end-diastolic pressure and aggravation of sRV dysfunction. These three cases illustrate the considerations made, challenges faced, and necessity of a patient-tailored approach when addressing baffle leaks. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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18 pages, 1440 KiB

Open AccessSystematic Review

A Systematic Review of Ebstein’s Anomaly with Left Ventricular Noncompaction

by Suma K. Thareja, Michele A. Frommelt, Joy Lincoln, John W. Lough, Michael E. Mitchell and Aoy Tomita-Mitchell

J. Cardiovasc. Dev. Dis. 2022, 9(4), 115; https://doi.org/10.3390/jcdd9040115 - 13 Apr 2022

Cited by 8 | Viewed by 6668

Abstract

Traditional definitions of Ebstein’s anomaly (EA) and left ventricular noncompaction (LVNC), two rare congenital heart defects (CHDs), confine disease to either the right or left heart, respectively. Around 15–29% of patients with EA, which has a prevalence of 1 in 20,000 live births, [...] Read more.

Traditional definitions of Ebstein’s anomaly (EA) and left ventricular noncompaction (LVNC), two rare congenital heart defects (CHDs), confine disease to either the right or left heart, respectively. Around 15–29% of patients with EA, which has a prevalence of 1 in 20,000 live births, commonly manifest with LVNC. While individual EA or LVNC literature is extensive, relatively little discussion is devoted to the joint appearance of EA and LVNC (EA/LVNC), which poses a higher risk of poor clinical outcomes. We queried PubMed, Medline, and Web of Science for all peer-reviewed publications from inception to February 2022 that discuss EA/LVNC and found 58 unique articles written in English. Here, we summarize and extrapolate commonalities in clinical and genetic understanding of EA/LVNC to date. We additionally postulate involvement of shared developmental pathways that may lead to this combined disease. Anatomical variation in EA/LVNC encompasses characteristics of both CHDs, including tricuspid valve displacement, right heart dilatation, and left ventricular trabeculation, and dictates clinical presentation in both age and severity. Disease treatment is non-specific, ranging from symptomatic management to invasive surgery. Apart from a few variant associations, mainly in sarcomeric genes MYH7 and TPM1, the genetic etiology and pathogenesis of EA/LVNC remain largely unknown. Full article

(This article belongs to the Special Issue Congenital Heart Defects: Diagnosis, Management, and Treatment)

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