bims-hylehe 2020-05-03 papers

bims-hylehe

Biomed News

on Hypoplastic left heart syndrome

Issue of 2020–05–03
eleven papers selected by
Richard James, University of Pennsylvania

Preterm Birth of Infants Prenatally Diagnosed with Congenital Heart Disease, Characteristics, Associations, and Outcomes.
Impact of Confounding on Cost, Survival, and Length-of-Stay Outcomes for Neonates with Hypoplastic Left Heart Syndrome Undergoing Stage 1 Palliation Surgery.
The Year in Review: Anesthesia for Congenital Heart Disease 2019.
Ventricular Assist Device Therapy and Fontan: A Story of Supply and Demand.
Quality of Life in Adults With Congenital Heart Disease: Function Over Form.
Prevalence and Prognostic Association of a Clinical Diagnosis of Depression in Adult Congenital Heart Disease: Results of the Boston Adult Congenital Heart Disease Biobank.
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.
Children Born with Congenital Heart Defects and Growth Restriction at Birth: A Systematic Review and Meta-Analysis.
Computational Modeling to Support Surgical Decision Making in Single Ventricle Physiology.
Implementation of an Evidence-Based Guideline of Enteral Nutrition for Infants With Congenital Heart Disease: A Controlled Before-and-After Study.
An ontology-based classification of Ebstein's anomaly and its implications in clinical adverse outcomes.

Pediatr Cardiol. 2020 Apr 30.

Preterm Birth of Infants Prenatally Diagnosed with Congenital Heart Disease, Characteristics, Associations, and Outcomes.

Hiba J Mustafa, Sarah N Cross, Katherine M Jacobs, Katelyn M Tessier, Alena N Tofte, Allison R McCarter, Shanti L Narasimhan.

  There are limited data on the relation between congenital heart disease (CHD) and preterm birth (PTB). We aimed to estimate the risk of PTB in newborns with CHD, to study associations and risk factors (modifiable and non-modifiable) as well as investigate postnatal outcomes. This was a retrospective cohort study of 336 pregnancies diagnosed with CHD between 2011 and 2016. Groups consisted of those delivered at or after 37 weeks, and those who delivered prior to 37 weeks. Collected data included maternal and fetal characteristics as well postnatal outcomes. Complete data were obtained from 237 singleton pregnancies. The overall proportion of PTB was 23.2% for all CHD, of which 38.2% were spontaneous PTB which was almost unchanged after excluding extracardiac anomalies and pathogenic chromosomal abnormalities. Significant non-modifiable risk factors were pregnancy-related HTN disorders (P < 0.001), fetal growth restriction (P = 0.01), and pathogenic chromosomal abnormalities (P = 0.046). Significant PTB modifiable risk factors included prenatal marijuana use (P = 0.01). Pregnancies delivered at 37-38 weeks had significantly more newborns with birthweight < 2500 g (P < 0.001), required more pre-operative NICU support including intubation (P = 0.049), vasopressors (P = 0.04), prostaglandins (P = 0.003), antibiotics (P = 0.01), and had longer hospital stay (P = 0.001) than those delivered at ≥ 39 weeks. Prenatally diagnosed pregnancies with CHD had higher PTB rate compared to the general population, with spontaneous PTB comprising 38.2% of these preterm deliveries. Most PTB risk factors were non-modifiable, however, significant modifiable factors included marijuana use in pregnancy. Outcomes were favorable in neonates delivered at or beyond 39 weeks.

Keywords:  Congenital heart defect; Gestational age; Pregnancy; Preterm birth

DOI:  https://doi.org/10.1007/s00246-020-02345-8
Pediatr Cardiol. 2020 Apr 26.

Impact of Confounding on Cost, Survival, and Length-of-Stay Outcomes for Neonates with Hypoplastic Left Heart Syndrome Undergoing Stage 1 Palliation Surgery.

Cynthia L Gong, Ashley Y Song, Robin Horak, Philippe S Friedlich, Ashwini Lakshmanan, Jay D Pruetz, Leah Yieh, S Ram Kumar, Roberta G Williams.

  The objective of this analysis was to update trends in LOS and costs by survivorship and ECMO use among neonates with hypoplastic left heart syndrome (HLHS) undergoing stage 1 palliation surgery using 2016 data from the Healthcare Cost and Utilization Project Kids' Inpatient Database. We identified neonates ≤ 28 days old with HLHS undergoing Stage 1 surgery, defined as a Norwood procedure with modified Blalock-Taussig (BT) shunt, Sano modification, or both. Multivariable regression with year random effects was used to compare LOS and costs by hospital region, case volume, survivorship, and ECMO vs. no ECMO. An E-value analysis, an approach for conducting sensitivity analysis for unmeasured confounding, was performed to determine if unmeasured confounding contributed to the observed effects. Significant differences in total costs, LOS, and mortality were noted by hospital region, ECMO use, and sub-analyses of case volume. However, other than ECMO use and mortality, the maximum E-value confidence interval bound was 1.71, suggesting that these differences would disappear with an unmeasured confounder 1.71 times more associated with both the outcome and exposure (e.g., socioeconomic factors, environment, etc.) Our findings confirm previous literature demonstrating significant resource utilization among Norwood patients, particularly those undergoing ECMO use. Based on our E-value analysis, differences by hospital region and case volume can be explained by moderate unobserved confounding, rather than a reflection of the quality of care provided. Future analyses on surgical quality must account for unobserved factors to provide meaningful information for quality improvement.

Keywords:  Epidemiology; Health services research; Hypoplastic left heart syndrome

DOI:  https://doi.org/10.1007/s00246-020-02348-5
Semin Cardiothorac Vasc Anesth. 2020 Apr 29. 1089253220920476

The Year in Review: Anesthesia for Congenital Heart Disease 2019.

Nicholas M Houska, Lawrence I Schwartz.

  This review focuses on the literature published from January 2019 to February 2020 that is of interest to anesthesiologists taking care of children and adults with congenital heart disease. Five themes are addressed during this time period, and 59 peer-reviewed articles are discussed.

Keywords:  Fontan operation; acute kidney injury; adult congenital heart disease; cardiopulmonary bypass; congenital heart disease; outcomes; pediatric cardiac anesthesia; ventricular assist device

DOI:  https://doi.org/10.1177/1089253220920476
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2020 ;pii: S1092-9126(20)30009-0. [Epub ahead of print]23 62-68

Ventricular Assist Device Therapy and Fontan: A Story of Supply and Demand.

Chet R Villa, Tarek Alsaied, David L S Morales.

  The last 10 years have seen an increase in the number of Fontan patients with heart failure. There has been a coincident rapid evolution in the field of pediatric and congenital heart disease ventricular assist device therapy. Herein, we describe the existing body of literature regarding the use of ventricular assist device therapy in the Fontan circulation as well as the current approach to clinical decision-making and device implantation within the field.

Keywords:  Congenital heart disease; Fontan; Pediatrics; Ventricular assist device

DOI:  https://doi.org/10.1053/j.pcsu.2020.02.007
Can J Cardiol. 2020 Apr 24. pii: S0828-282X(20)30406-2. [Epub ahead of print]

Quality of Life in Adults With Congenital Heart Disease: Function Over Form.

Steven C Greenway.

DOI: https://doi.org/10.1016/j.cjca.2020.04.021
J Am Heart Assoc. 2020 Apr 28. e014820

Prevalence and Prognostic Association of a Clinical Diagnosis of Depression in Adult Congenital Heart Disease: Results of the Boston Adult Congenital Heart Disease Biobank.

Matthew R Carazo, Meghan S Kolodziej, Elizabeth S DeWitt, Nadine A Kasparian, Jane W Newburger, Valeria E Duarte, Michael N Singh, Alexander R Opotowsky.

  Background In adults with acquired heart disease, depression is common and associated with adverse outcomes. Depression may also be important in adults with congenital heart disease (CHD). Methods and Results We conducted a cohort study of outpatients with CHD, aged ≥18 years, enrolled in a prospective biobank between 2012 and 2017. Clinical data were extracted from medical records. Survival analysis assessed the relationship between depression, defined by a history of clinical diagnosis of major depression, with all-cause mortality and a composite outcome of death or nonelective cardiovascular hospitalization. A total of 1146 patients were enrolled (age, 38.5±13.8 years; 49.6% women). Depression had been diagnosed in 219 (prevalence=19.1%), and these patients were more likely to have severely complex CHD (41.3% versus 33.7%; P=0.028), cyanosis (12.1% versus 5.7%; P=0.003), and worse functional class (≥II; 33.3% versus 20.4%; P<0.0001), and to be taking antidepressant medication at time of enrollment (68.5% versus 5.7%; P<0.0001). Depression was associated with biomarkers indicative of inflammation (hsCRP [high-sensitivity C-reactive protein], 1.71 [25th-75th percentile, 0.82-4.47] versus 1.10 [0.45-2.40]; P<0.0001) and heart failure (NT-proBNP [N-terminal pro-B-type natriuretic peptide], 190 [92-501] versus 111 [45-264]; P<0.0001). During follow-up of 605±547 days, 137 participants (12.0%) experienced the composite outcome, including 33 deaths (2.9%). Depression was associated with increased risk for both all-cause mortality (multivariable hazard ratio, 3.0; 95% CI, 1.4-6.4; P=0.005) and the composite outcome (multivariable hazard ratio, 1.6; 95% CI, 1.1-2.5; P=0.025), adjusting for age, sex, history of atrial arrhythmia, systolic ventricular function, CHD complexity, and corrected QT interval. Conclusions In adults with CHD, major depression is associated with impaired functional status, heart failure, systemic inflammation, and increased risk for adverse outcomes.

Keywords:  adult congenital heart disease; adverse effects; biomarkers; depression; prognosis; survival

DOI:  https://doi.org/10.1161/JAHA.119.014820
Genet Med. 2020 Apr 28.

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.

Amber E L van Nisselrooij, Malou A Lugthart, Sally-Ann Clur, Ingeborg H Linskens, Eva Pajkrt, Lukas A Rammeloo, Lieke Rozendaal, Nico A Blom, Jan M M van Lith, Alida C Knegt, Mariëtte J V Hoffer, Emmelien Aten, Gijs W E Santen, Monique C Haak.

   PURPOSE: Congenital heart defects (CHD) are associated with genetic syndromes. Rapid aneuploidy testing and chromosome microarray analysis (CMA) are standard care in fetal CHD. Many genetic syndromes remain undetected with these tests. This cohort study aims to estimate the frequency of causal genetic variants, in particular structural chromosome abnormalities and sequence variants, in fetuses with severe CHD at mid-gestation, to aid prenatal counselling.
METHODS: Fetuses with severe CHD were extracted from the PRECOR registry (2012-2016). We evaluated pre- and postnatal genetic testing results retrospectively to estimate the frequency of genetic diagnoses in general, as well as for specific CHDs.
RESULTS: 919 fetuses with severe CHD were identified. After exclusion of 211 cases with aneuploidy, a genetic diagnosis was found in 15.7% (111/708). These comprised copy number variants in 9.9% (70/708). In 4.5% (41/708) sequence variants were found that would have remained undetected with CMA. Interrupted aortic arch, pulmonary atresia with ventricular septal defect and atrioventricular septal defect were most commonly associated with a genetic diagnosis.
CONCLUSION: In case of normal CMA results, parents should be offered exome sequencing sequentially, if time allows for it, especially if the CHD is accompanied by other structural malformations due to the large variety in genetic syndromes.

Keywords:  chromosome microarray analysis; congenital heart defects; exome sequencing; genetic syndrome; prenatal counseling

DOI:  https://doi.org/10.1038/s41436-020-0791-8
Int J Environ Res Public Health. 2020 Apr 28. pii: E3056. [Epub ahead of print]17(9):

Children Born with Congenital Heart Defects and Growth Restriction at Birth: A Systematic Review and Meta-Analysis.

Ali Ghanchi, Neil Derridj, Damien Bonnet, Nathalie Bertille, Laurent J Salomon, Babak Khoshnood.

  Newborns with congenital heart defects tend to have a higher risk of growth restriction, which can be an independent risk factor for adverse outcomes. To date, a systematic review of the relation between congenital heart defects (CHD) and growth restriction at birth, most commonly estimated by its imperfect proxy small for gestational age (SGA), has not been conducted.
OBJECTIVE: To conduct a systematic review and meta-analysis to estimate the proportion of children born with CHD that are small for gestational age (SGA).
METHODS: The search was carried out from inception until 31 March 2019 on Pubmed and Embase databases. Studies were screened and selected by two independent reviewers who used a predetermined data extraction form to obtain data from studies. Bias was assessed using the Critical Appraisal Skills Programme (CASP) checklist. The database search identified 1783 potentially relevant publications, of which 38 studies were found to be relevant to the study question. A total of 18 studies contained sufficient data for a meta-analysis, which was done using a random effects model.
RESULTS: The pooled proportion of SGA in all CHD was 20% (95% CI 16%-24%) and 14% (95% CI 13%-16%) for isolated CHD. Proportion of SGA varied across different CHD ranging from 30% (95% CI 24%-37%) for Tetralogy of Fallot to 12% (95% CI 7%-18%) for isolated atrial septal defect. The majority of studies included in the meta-analysis were population-based studies published after 2010.
CONCLUSION: The overall proportion of SGA in all CHD was 2-fold higher whereas for isolated CHD, 1.4-fold higher than the expected proportion in the general population. Although few studies have looked at SGA for different subtypes of CHD, the observed variability of SGA by subtypes suggests that growth restriction at birth in CHD may be due to different pathophysiological mechanisms.

Keywords:  congenital heart defects; meta-analysis; population-based study; small for gestational age; systematic review

DOI:  https://doi.org/10.3390/ijerph17093056
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2020 ;pii: S1092-9126(20)30001-6. [Epub ahead of print]23 2-10

Computational Modeling to Support Surgical Decision Making in Single Ventricle Physiology.

Modeling of Congenital Hearts Alliance (MOCHA) Investigators

  Many of the advances in congenital heart surgery were built upon lessons and insights gained from model simulations. While animal and mock-circuit models have historically been the main arena to test new operative techniques and concepts, the recognition that complex cardiovascular anatomy and circulation can be modeled mathematically ushered a new era of collaboration between surgeons and engineers. In 1996, the computational age in congenital heart surgery began when investigators in London and Milan tapped the power of the computer to simulate the Fontan procedure and introduced operative improvements. Since then, computational modeling has led to numerous contributions in congenial heart surgery as continuing sophistication and advances in numerical and imaging methods furthered the ability to refine anatomic and physiologic details. Idealized generic models have given way to precise patient-specific simulations of the 3-dimensional anatomy, reconstructed circulation, affected hemodynamics, and altered physiology. Tools to perform virtual surgery, and predict flow dynamic and circulatory results, have been developed for some of the most complex defects, such as those requiring single ventricle palliation. In today's quest for personalized medicine and precision care, computational modeling's role to assist surgical planning in complex congenital heart surgery will continue to grow and evolve. With ever closer collaboration between surgeons and engineers, and clear understanding of modeling limitations, computational simulations can be a valuable adjunct to support preoperative surgical decision making.

Keywords:  Computational modeling; Personalized precision medicine; Single ventricle physiology; Surgical planning; Virtual surgery

DOI:  https://doi.org/10.1053/j.pcsu.2020.01.001
Pediatr Crit Care Med. 2020 Mar 11.

Implementation of an Evidence-Based Guideline of Enteral Nutrition for Infants With Congenital Heart Disease: A Controlled Before-and-After Study.

Ying Gu, Yan Hu, Huiwen Zhang, Weijia Fu, Yuxia Yang, Jos M Latour.

OBJECTIVES: To describe the implementation process of a nutrition risk screening and assessment guideline for infants with congenital heart disease and to assess the impact of nurses' behavior and the effect on infants' outcomes.
DESIGN: A controlled before-and-after implementation study. The three dimensions of the integrated-Promoting Action on Research Implementation in Health Services framework were used to assess barriers and promoting factors.
SETTING: Cardiac center at Children's Hospital of Fudan University, Shanghai, China.
PATIENTS: Infants with congenital heart disease (n = 142) and nurses (n = 100).
INTERVENTIONS: Implementation of an evidenced-based nutrition risk screening and assessment guideline.
MEASUREMENTS AND MAIN RESULTS: Implementation processes were assessed on nurses' knowledge, attitude, behavior, and compliance of the guideline. Infants' clinical outcomes were evaluated before-and-after the implementation. Knowledge, attitude, and behavior of nurses about nutrition risk screening and assessment increased significantly after implementing the guideline. Nurses' compliance with the recommendations for nutritional risk screening improved significantly on three criteria; assessment of nutritional status stability (p < 0.001), assessment of nutritional status deterioration (p = 0.003), and nutritional assessment among infants with moderate risk and above (p < 0.001). The nurses' compliance with the recommendations for nutrition assessment improved significantly in eight of the 10 criteria (p < 0.001). The proportion of infants receiving comprehensive nutrition assessment when they were first screened with moderate or high nutritional risk were higher in the intervention group (24.3% vs 83.3%; p < 0.001). The accuracy rates of nutrition risk screening were higher in the intervention group (52.9% vs 81.9%; p < 0.001).
CONCLUSIONS: Using the integrated-Promoting Action on Research Implementation in Health Services framework contributed to a successful implementation of the nutrition guideline. The nurses' knowledge, attitude, and behavior toward the nutrition guideline were positive resulting in a significantly higher nutrition assessments in infants with moderate or high nutritional risk.

DOI: https://doi.org/10.1097/PCC.0000000000002296
Int J Cardiol. 2020 Apr 26. pii: S0167-5273(19)34800-4. [Epub ahead of print]

An ontology-based classification of Ebstein's anomaly and its implications in clinical adverse outcomes.

Xia Tang, Wen Chen, Ziyi Zeng, Keyue Ding, Zhou Zhou.

   BACKGROUND: Ebstein's anomaly (EA) is a rare congenital heart disease with significantly phenotypic heterogeneity, accompanied with multiple associated phenotypes. The classification of cases with EA based on a standardized vocabulary of phenotypic abnormalities from Human Phenotype Ontology (HPO) and its association with adverse clinical outcomes has yet to be investigated.
METHODS: We developed a deep phenotyping algorithm for Chinese electronic medical records (EMRs) from the Chinese National Cardiovascular Center at the Fuwai Hospital to ascertain EA cases. EA-associated phenotypes were standardized according to HPO annotation, and an unsupervised hierarchical cluster analysis was used to classify EA cases according to their phenotypic similarities. A survival analysis was conducted to study the association of the HPO-based cluster with survival or adverse clinical outcomes.
RESULTS: The ascertained EA cases were annotated to have a single or multiple HPO terms. Three distinct clusters with different combinations of HPO term in these cases were identified. The HPO-based classification of EA cases was not significantly associated with survival or adverse clinical outcomes at a mid-term follow up.
CONCLUSIONS: Our study provided an important implication for studying the classification of congenital heart disease using HPO-based annotation. A long time follow up will enable to confirm its association with adverse clinical outcomes.

Keywords:  Classification; Ebstein's anomaly; Human phenotype ontology; Survival

DOI:  https://doi.org/10.1016/j.ijcard.2020.04.073