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Congenital Heart Disease: Risk Factors, Prenatal Diagnosis, and Outcomes
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Congenital Heart Disease: Risk Factors, Prenatal Diagnosis, and Outcomes

A special issue of Journal of Cardiovascular Development and Disease (ISSN 2308-3425). This special issue belongs to the section "Pediatric Cardiology and Congenital Heart Disease".

Deadline for manuscript submissions: closed (15 April 2024) | Viewed by 9980

Special Issue Editors

Dr. Ann Kavanaugh-Mchugh

E-Mail Website
Guest Editor
Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA
Interests: cardiac imaging; echocardiography; fetal cardiology; fetal diagnosis; general pediatric; cardiology; pediatric cardiology; pediatric congenital heart disease; single ventricle physiology
Dr. Bridget B. Zoeller

E-Mail Website
Co-Guest Editor
Department of Pediatrics, Vanderbilt University Medical Center, 2200 Children’s Way, Nashville, TN 37232, USA
Interests: fetal cardiology; fetal arrhythmia; fetal cardiac strain

Special Issue Information

Dear Colleagues,

Congenital heart disease (CHD) is the most common prenatal defect and occurs in 1:100 babies born every year, and of these, 1:4 undergo cardiac surgery every year. As with every discipline, the time of diagnosis has moved into the prenatal period, and currently more patients with serious congenital heart disease are diagnosed prenatally than postnatally. With improvements in technology, prenatal diagnosis of congenital heart disease of structural heart disease may occur as early as weeks 13 to 15 of gestation. With the earlier identification of congenital heart disease, prenatal treatment options are being explored. Fetal arrhythmias are diagnosed and treated prenatally and prenatal interventional cardiac procedures and their potential role in the natural history of some forms of congenital heart disease are being examined. Moving the timing of diagnosis into the prenatal era has significant associated challenges and responsibilities. Current research must focus on all aspects of prenatal diagnosis, beginning with an examination of screening strategies and whether social determinants of health impact the availability of services. Advances in prenatal genetic screening are essential in counseling families prenatally, and these modalities are becoming increasingly available and essential for parental decision making. Investigators continue to determine strategies for appropriate support of families in this complex and stressful process which begins prenatally, but will extend throughout the lifetime of their patients. Investigators are actively examining strategies for translating our increasing understanding of the prenatal course of congenital heart disease into delivery planning and postnatal management strategies that will support improvements in outcomes. Successes in the current era are defined not only by survival statistics, but also by improvements in the neurocognitive outcome and quality of life. The focus of this Special Issue will include the present status of prenatal diagnosis and screening strategies, current research on parental support, available prenatal therapies, strategies for delivery planning and the impact of prenatal diagnosis on postnatal outcomes. 

Dr. Ann Kavanaugh-Mchugh
Guest Editor
Dr. Bridget B. Zoeller
Co-Guest Editor

Manuscript Submission Information

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

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Cardiovascular Development and Disease is an international peer-reviewed open access monthly 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 2700 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

  • prenatal diagnosis
  • early prenatal diagnosis
  • genetic screening
  • prenatal counseling
  • parent support
  • prenatal intervention
  • delivery planning/when/where/economics
  • impact of prenatal diagnosis on postnatal outcomes

Published Papers (11 papers)

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Research

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9 pages, 576 KiB  
Article
Perinatal Stressors and Consequences for Neonates with Critical Congenital Heart Disease
by Christina Ronai, Isabel Katlaps, Amanda Kim, Amy M. Valent, Kent L. Thornburg and Erin Madriago
J. Cardiovasc. Dev. Dis. 2023, 10(12), 497; https://doi.org/10.3390/jcdd10120497 - 15 Dec 2023
Cited by 1 | Viewed by 1549
Abstract
Introduction: The prenatal diagnosis of congenital heart disease (CHD) is a traumatic event that can cause expectant parents to experience anxiety, depression, and toxic stress. Prenatal exposure to stress may impact neonatal postoperative outcomes. In addition, expectant parents may have other psychosocial stressors [...] Read more.
Introduction: The prenatal diagnosis of congenital heart disease (CHD) is a traumatic event that can cause expectant parents to experience anxiety, depression, and toxic stress. Prenatal exposure to stress may impact neonatal postoperative outcomes. In addition, expectant parents may have other psychosocial stressors that may compound maternal stress. We investigated the relationship between stress in pregnancies complicated by prenatally diagnosed CHD and their neonatal outcomes. Methods: A pilot retrospective cohort study of pregnancies with prenatally diagnosed critical CHD (2019–2021) was performed. The collected data included pregnancy characteristics and neonatal and postoperative outcomes (including the need for exogenous corticosteroid treatment (ECT)). In order to quantify prenatal stressors, a composite prenatal stress score (PSS) was established and utilized. Results: In total, 41 maternal–fetal dyads were evaluated. Thirteen (32%) neonates had single-ventricle anatomy. The need for ECT after CHD surgery was associated with higher pregnant patient PSS (p = 0.01). PSS did not correlate with birthweight, infection, or hypoglycemia in the neonatal period. Conclusions: Prenatal stress is multifactorial; higher PSS is correlates with post-bypass ECT, suggesting that a stressful intrauterine environment may be associated with worse neonatal postoperative outcomes. Full article
(This article belongs to the Special Issue Congenital Heart Disease: Risk Factors, Prenatal Diagnosis, and Outcomes)
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12 pages, 808 KiB  
Article
“I Just Want You to Hear That Term”: Characterizing Language Used in Fetal Cardiology Consultations
by Kelsey Schweiberger, Kelly W. Harris, Ann Kavanaugh-McHugh, Abdesalam Soudi, Robert M. Arnold, Jessica S. Merlin, Nadine A. Kasparian and Judy C. Chang
J. Cardiovasc. Dev. Dis. 2023, 10(9), 394; https://doi.org/10.3390/jcdd10090394 - 13 Sep 2023
Cited by 2 | Viewed by 1821
Abstract
The way clinicians communicate with parents during pregnancy about congenital heart disease (CHD) can significantly influence parental understanding of and psychological response to the diagnosis. A necessary first step to improving communication used in fetal cardiology consultations is to understand and describe the [...] Read more.
The way clinicians communicate with parents during pregnancy about congenital heart disease (CHD) can significantly influence parental understanding of and psychological response to the diagnosis. A necessary first step to improving communication used in fetal cardiology consultations is to understand and describe the language currently used, which this paper aims to do. Nineteen initial fetal cardiology consultations with parents were audio-recorded, transcribed verbatim, and coded by two independent coders. A codebook was inductively developed and applied to all transcripts. The finalized coding was used to characterize fetal cardiologists’ language. We identified four discourse styles employed in fetal cardiology consultations: small talk, medical, plain, and person-centered. Plain language was used to define and emphasize the meaning of medical language. Person-centered language was used to emphasize the baby as a whole person. Each consultation included all four discourse styles, with plain and medical used most frequently. Person-centered was used less frequently and mostly occurred near the end of the encounters; whether this is the ideal balance of discourse styles is unknown. Clinicians also used person-centered language (as opposed to disease-centered language), which is recommended by medical societies. Future studies should investigate the ideal balance of discourse styles and the effects of clinician discourse styles on family outcomes, including parents’ decision-making, psychological adjustment, and quality of life. Full article
(This article belongs to the Special Issue Congenital Heart Disease: Risk Factors, Prenatal Diagnosis, and Outcomes)
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Review

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12 pages, 259 KiB  
Review
Ethical Considerations in Fetal Cardiology
by Stefani Samples, Rupali Gandhi, Joyce Woo and Angira Patel
J. Cardiovasc. Dev. Dis. 2024, 11(6), 172; https://doi.org/10.3390/jcdd11060172 (registering DOI) - 1 Jun 2024
Abstract
Fetal cardiology has evolved over the last 40 years and changed the timing of diagnosis and counseling of congenital heart disease, decision-making, planning for treatment at birth, and predicting future surgery from the postnatal to the prenatal period. Ethical issues in fetal cardiology [...] Read more.
Fetal cardiology has evolved over the last 40 years and changed the timing of diagnosis and counseling of congenital heart disease, decision-making, planning for treatment at birth, and predicting future surgery from the postnatal to the prenatal period. Ethical issues in fetal cardiology transect multiple aspects of biomedical ethics including improvement in prenatal detection and diagnostic capabilities, access to equitable comprehensive care that preserves a pregnant person’s right to make decisions, access to all reproductive options, informed consent, complexity in shared decision-making, and appropriate use of fetal cardiac interventions. This paper first reviews the literature and then provides an ethical analysis of accurate and timely diagnosis, equitable delivery of care, prenatal counseling and shared decision-making, and innovation through in utero intervention. Full article
(This article belongs to the Special Issue Congenital Heart Disease: Risk Factors, Prenatal Diagnosis, and Outcomes)
9 pages, 332 KiB  
Review
The Evolving Role of Genetic Evaluation in the Prenatal Diagnosis and Management of Congenital Heart Disease
by Emily M. Bucholz, Sarah U. Morton, Erin Madriago, Amy E. Roberts and Christina Ronai
J. Cardiovasc. Dev. Dis. 2024, 11(6), 170; https://doi.org/10.3390/jcdd11060170 - 30 May 2024
Abstract
Congenital heart disease (CHD) is increasingly diagnosed prenatally and the ability to screen and diagnose the genetic factors involved in CHD have greatly improved. The presence of a genetic abnormality in the setting of prenatally diagnosed CHD impacts prenatal counseling and ensures that [...] Read more.
Congenital heart disease (CHD) is increasingly diagnosed prenatally and the ability to screen and diagnose the genetic factors involved in CHD have greatly improved. The presence of a genetic abnormality in the setting of prenatally diagnosed CHD impacts prenatal counseling and ensures that families and providers have as much information as possible surrounding perinatal management and what to expect in the future. This review will discuss the genetic evaluation that can occur prior to birth, what different genetic testing methods are available, and what to think about in the setting of various CHD diagnoses. Full article
(This article belongs to the Special Issue Congenital Heart Disease: Risk Factors, Prenatal Diagnosis, and Outcomes)
21 pages, 21208 KiB  
Review
Catheter-Based Fetal Cardiac Interventions
by Betul Yilmaz Furtun and Shaine Alaine Morris
J. Cardiovasc. Dev. Dis. 2024, 11(6), 167; https://doi.org/10.3390/jcdd11060167 - 29 May 2024
Viewed by 172
Abstract
Fetal cardiac intervention (FCI) is an emerging and rapidly advancing group of interventions designed to improve outcomes for fetuses with cardiovascular disease. Currently, FCI is comprised of pharmacologic therapies (e.g., trans-placental antiarrhythmics for fetal arrhythmia), open surgical procedures (e.g., surgical resection of pericardial [...] Read more.
Fetal cardiac intervention (FCI) is an emerging and rapidly advancing group of interventions designed to improve outcomes for fetuses with cardiovascular disease. Currently, FCI is comprised of pharmacologic therapies (e.g., trans-placental antiarrhythmics for fetal arrhythmia), open surgical procedures (e.g., surgical resection of pericardial teratoma), and catheter-based procedures (e.g., fetal aortic valvuloplasty for aortic stenosis). This review focuses on the rationale, criteria for inclusion, technical details, and current outcomes of the three most frequently performed catheter-based FCI procedures: (1) aortic valvuloplasty for critical aortic stenosis (AS) associated with evolving hypoplastic left heart syndrome (HLHS), (2) atrial septal intervention for HLHS with severely restrictive or intact atrial septum (R/IAS), and (3) pulmonary valvuloplasty for pulmonary atresia with intact ventricular septum (PA/IVS). Full article
(This article belongs to the Special Issue Congenital Heart Disease: Risk Factors, Prenatal Diagnosis, and Outcomes)
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27 pages, 9072 KiB  
Review
Diagnosis and Management of Fetal Arrhythmias in the Current Era
by Stacy A. S. Killen and Janette F. Strasburger
J. Cardiovasc. Dev. Dis. 2024, 11(6), 163; https://doi.org/10.3390/jcdd11060163 - 24 May 2024
Viewed by 409
Abstract
Diagnosis and management of fetal arrhythmias have changed over the past 40–50 years since propranolol was first used to treat fetal tachycardia in 1975 and when first attempts were made at in utero pacing for complete heart block in 1986. Ongoing clinical trials, [...] Read more.
Diagnosis and management of fetal arrhythmias have changed over the past 40–50 years since propranolol was first used to treat fetal tachycardia in 1975 and when first attempts were made at in utero pacing for complete heart block in 1986. Ongoing clinical trials, including the FAST therapy trial for fetal tachycardia and the STOP-BLOQ trial for anti-Ro-mediated fetal heart block, are working to improve diagnosis and management of fetal arrhythmias for both mother and fetus. We are also learning more about how “silent arrhythmias”, like long QT syndrome and other inherited channelopathies, may be identified by recognizing “subtle” abnormalities in fetal heart rate, and while echocardiography yet remains the primary tool for diagnosing fetal arrhythmias, research efforts continue to advance the clinical envelope for fetal electrocardiography and fetal magnetocardiography. Pharmacologic management of fetal arrhythmias remains one of the most successful achievements of fetal intervention. Patience, vigilance, and multidisciplinary collaboration are key to successful diagnosis and treatment. Full article
(This article belongs to the Special Issue Congenital Heart Disease: Risk Factors, Prenatal Diagnosis, and Outcomes)
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10 pages, 251 KiB  
Review
Untangling the Complex Associations between Socioeconomic and Demographic Characteristics and Prenatal Detection and Outcomes in Congenital Heart Disease
by Jennifer H. Klein and Mary T. Donofrio
J. Cardiovasc. Dev. Dis. 2024, 11(5), 155; https://doi.org/10.3390/jcdd11050155 - 18 May 2024
Viewed by 359
Abstract
Recent literature has established a strong foundation examining the associations between socioeconomic/demographic characteristics and outcomes for congenital heart disease. These associations are found beginning in fetal life and influence rates of prenatal detection, access to timely and appropriate delivery room and neonatal interventions, [...] Read more.
Recent literature has established a strong foundation examining the associations between socioeconomic/demographic characteristics and outcomes for congenital heart disease. These associations are found beginning in fetal life and influence rates of prenatal detection, access to timely and appropriate delivery room and neonatal interventions, and surgical and other early childhood outcomes. This review takes a broad look at the existing literature and identifies gaps in the current body of research, particularly as it pertains to disparities in the prenatal detection of congenital heart disease within the United States. It also proposes further research and interventions to address these health disparities. Full article
(This article belongs to the Special Issue Congenital Heart Disease: Risk Factors, Prenatal Diagnosis, and Outcomes)
17 pages, 746 KiB  
Review
Prenatal Diagnosis of Congenital Heart Disease: The Crucial Role of Perinatal and Delivery Planning
by Sheetal R. Patel and Erik Michelfelder
J. Cardiovasc. Dev. Dis. 2024, 11(4), 108; https://doi.org/10.3390/jcdd11040108 - 31 Mar 2024
Cited by 1 | Viewed by 1094
Abstract
Although most congenital heart defects (CHDs) are asymptomatic at birth, certain CHD lesions are at significant risk of severe hemodynamic instability and death if emergent cardiac interventions are not performed in a timely fashion. Therefore, accurate identification of at-risk fetuses and appropriate delivery [...] Read more.
Although most congenital heart defects (CHDs) are asymptomatic at birth, certain CHD lesions are at significant risk of severe hemodynamic instability and death if emergent cardiac interventions are not performed in a timely fashion. Therefore, accurate identification of at-risk fetuses and appropriate delivery resource planning according to the degree of anticipated hemodynamic instability is crucial. Fetal echocardiography has increased prenatal CHD detection in recent years due to advancements in ultrasound techniques and improved obstetrical cardiac screening protocols, enabling the prediction of newborns’ hemodynamic status. This assessment can guide multidisciplinary resource planning for postnatal care, including selection of delivery site, delivery room management, and transport to a cardiac center based on CHD risk severity. This review will discuss fetal cardiovascular physiology and the circulatory changes that occur at the time of and immediately following birth, outline fetal echocardiographic findings used to risk-stratify newborns with CHDs, and outline principles for neonatal resuscitation and initial transitional care in neonates with these complex CHD lesions. Full article
(This article belongs to the Special Issue Congenital Heart Disease: Risk Factors, Prenatal Diagnosis, and Outcomes)
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Other

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11 pages, 6323 KiB  
Case Report
Management of Ebstein Anomaly in the Current Era: The Story of One Fetus and the Collaboration of Many—A Case Report
by Ann Kavanaugh-McHugh, Lisa C. Zuckerwise, Stacy A. S. Killen, Emily A. Morris, Rachel T. Sullivan, Mhd Wael Alrifai, David P. Bichell, Melissa Smith-Parrish and Lindsay Freud
J. Cardiovasc. Dev. Dis. 2024, 11(5), 147; https://doi.org/10.3390/jcdd11050147 - 9 May 2024
Viewed by 514
Abstract
Collaborative multicenter research has significantly increased our understanding of fetal Ebstein anomaly, delineating risk factors for adverse outcomes as well as predictors of postnatal management. These data are incorporated into prenatal care and therapeutic strategies and inform family counseling and delivery planning to [...] Read more.
Collaborative multicenter research has significantly increased our understanding of fetal Ebstein anomaly, delineating risk factors for adverse outcomes as well as predictors of postnatal management. These data are incorporated into prenatal care and therapeutic strategies and inform family counseling and delivery planning to optimize care. This report details the translation of findings from multicenter studies into multidisciplinary prenatal care for a fetus with Ebstein anomaly, supraventricular tachycardia, and a circular shunt, including transplacental therapy to control arrhythmias and achieve ductal constriction, informed and coordinated delivery room management, and planned univentricular surgical palliation. Full article
(This article belongs to the Special Issue Congenital Heart Disease: Risk Factors, Prenatal Diagnosis, and Outcomes)
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12 pages, 5838 KiB  
Case Report
Prenatal Diagnosis of a Ductal-Dependent Branch Pulmonary Artery: Extra Vessels in the 3-Vessel and Trachea View
by Anmol Goyal, Maria Kiaffas, Tara Swanson, Melanie J. Kathol, Sanket Shah and Nitin Madan
J. Cardiovasc. Dev. Dis. 2024, 11(2), 55; https://doi.org/10.3390/jcdd11020055 - 4 Feb 2024
Viewed by 1650
Abstract
Obtaining a three-vessel (3V) and three-vessel and trachea (3VT) view from the fetal upper mediastinum is now considered to be part of standard imaging protocol for routine obstetric cardiac screening examinations. We report two fetal cases of an anomalous pulmonary artery origin, utilizing [...] Read more.
Obtaining a three-vessel (3V) and three-vessel and trachea (3VT) view from the fetal upper mediastinum is now considered to be part of standard imaging protocol for routine obstetric cardiac screening examinations. We report two fetal cases of an anomalous pulmonary artery origin, utilizing the standard 3V and 3VT views. Further imaging led to a rare diagnosis of bilateral ductus arteriosus with discontinuous branch pulmonary arteries in the absence of any other congenital heart defect. We briefly discuss the imaging features, differential diagnoses, and management of this rare entity. Full article
(This article belongs to the Special Issue Congenital Heart Disease: Risk Factors, Prenatal Diagnosis, and Outcomes)
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9 pages, 2280 KiB  
Case Report
Ruptured Sinus of Valsalva Aneurysm with Resultant Myocardial Pouch Formation in the Fetal Heart—A Diagnostic Challenge
by Hugh Bigg, Elijah Bolin, Dala Zakaria and Renee Bornemeier
J. Cardiovasc. Dev. Dis. 2024, 11(1), 23; https://doi.org/10.3390/jcdd11010023 - 14 Jan 2024
Viewed by 1521
Abstract
Sinus of Valsalva aneurysms (SVAs) are infrequently seen in the pediatric population. When these aneurysms rupture, a significant hemodynamic burden is placed on the heart and increases the likelihood of cardiac failure. Here, we report a case of a ruptured SVA into the [...] Read more.
Sinus of Valsalva aneurysms (SVAs) are infrequently seen in the pediatric population. When these aneurysms rupture, a significant hemodynamic burden is placed on the heart and increases the likelihood of cardiac failure. Here, we report a case of a ruptured SVA into the ventricular myocardium in a fetus with a form of double-inlet left ventricle. To the best of our knowledge, this has not previously been described. Full article
(This article belongs to the Special Issue Congenital Heart Disease: Risk Factors, Prenatal Diagnosis, and Outcomes)
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