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 7502

Special Issue Editors


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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

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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

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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 (5 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
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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
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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
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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
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Review

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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
Viewed by 673
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
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Other

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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 - 04 Feb 2024
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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
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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
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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
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