bims-hylehe Biomed News
on Hypoplastic left heart syndrome
Issue of 2019‒11‒10
thirteen papers selected by
Richard James
University of Pennsylvania


  1. Curr Opin Pediatr. 2019 Dec;31(6): 783-788
    White BR, Rogers LS, Kirschen MP.
      PURPOSE OF REVIEW: Patients with congenital heart disease (CHD) suffer from a pattern of neurodevelopmental abnormalities including deficits in language and executive function. In this review, we summarize recent studies that examine these outcomes, their risk factors, possible biomarkers, and attempts to develop therapeutic interventions.RECENT FINDINGS: The latest literature has highlighted the role of genetics in determining neurologic prognosis, as we have increased our understanding of potentially modifiable perioperative risk factors. The role of potentially neurotoxic medical therapies has become more salient. One recent focus has been how neurodevelopment affects quality of life and leads to a high prevalence of mental illness. Neuroimaging advances have provided new insights into the pathogenesis of deficits.
    SUMMARY: Although many risk factors in CHD are not modifiable, there is promise for interventions to improve neurodevelopmental outcomes in patients with CHD. Biomarkers are needed to better understand the timing and prognosis of injury and to direct therapy. Research into psychosocial interventions is urgently needed to benefit the many survivors with CHD.
    DOI:  https://doi.org/10.1097/MOP.0000000000000829
  2. Pediatr Cardiol. 2019 Nov 07.
    Lee JS, Cinanni N, Di Cristofaro N, Lee S, Dillenburg R, Adamo KB, Mondal T, Barrowman N, Shanmugam G, Timmons BW, Longmuir PW.
      The purpose of this study was to investigate parent reports of quality of life for their very young children with congenital heart defects (CHD) and to compare their scores to previously published data. Parents of children 1-3 years old with CHD or innocent heart murmurs completed the Pediatric Quality of Life Inventory (PedsQL) core, cardiac, and family impact modules. Multivariable regression analyses assessed the impact of age, sex, family income, and CHD treatment history (study group) on PedsQL scores. Correlations between family impact and core/cardiac modules were examined. PedsQL scores were compared to healthy norms. 140 parents of young children participated within four study groups: CHD no treatment (n = 44), CHD treatment without bypass (n = 26), CHD treatment with bypass (n = 42) ,and innocent heart murmurs (n = 28). Male sex was associated with higher core (F = 4.16, p = 0.04, σ2 = .03) and cardiac quality of life (F = 4.41, p = .04, σ2 = 0.04). Higher family income was associated with higher family quality of life (F = 8.89, p < .01, σ2 = 0.13). Parents of children with innocent heart murmurs and children with CHD not requiring treatment had higher core quality of life compared to young healthy children. Cardiac-related quality of life scores were associated with family impact (r = 0.68) and core module (r = 0.63) quality of life scores. Parents of very young children with CHD report good quality of life for their children and families. Quality of life exceeds in children with innocent murmurs or CHD not requiring repair. Parents report a lower quality of life among girls, and lower family quality of life is associated with lower family income.
    Keywords:  Congenital heart defects; Pediatrics; Quality of life
    DOI:  https://doi.org/10.1007/s00246-019-02220-1
  3. Heart Fail Rev. 2019 Nov 04.
    Burstein DS, Menachem JN, Opotowsky AR.
      Congenital heart disease (CHD)-related heart failure is common and associated with significant morbidity, mortality, and resource utilization. In adults with CHD (ACHD), exercise limitation is often underestimated. Quantitative assessment with cardiopulmonary exercise testing (CPET) provides a comprehensive evaluation of exercise capacity and can help risk stratify patients, particularly across serial testing. CPET parameters must be interpreted within the context of the underlying anatomy, specifically for patients with either single ventricle physiology and/or cyanosis. Acknowledging differences in CPET parameters between ACHD and non-ACHD patients with heart failure are also important considerations when evaluating the overall benefit of advanced heart failure therapies. CPET testing can also guide safe exercise recommendation, including those with ACHD-related heart failure.
    Keywords:  Adult congenital heart disease; Exercise testing; Heart failure
    DOI:  https://doi.org/10.1007/s10741-019-09867-1
  4. Anesthesiol Clin. 2019 Dec;pii: S1932-2275(19)30062-X. [Epub ahead of print]37(4): 751-768
    Smit-Fun VM, Buhre WF.
      Adult patients with congenital heart disease are a complex population with a variety of pathophysiologic conditions based on the anatomy and type of surgery or intervention performed, usually during the first years of life. Nowadays, the majority of patients survive childhood and present for a number of noncardiac surgeries or interventions needing appropriate perioperative management. Heart failure is a major contributing factor to perioperative morbidity and mortality. In this review, we present an overview of the most common types of adult patients with congenital heart disease and actual knowledge on therapy and specific risks in this challenging patient population.
    Keywords:  Adult congenital heart disease; Fontan circulation; Grown-up congenital heart disease; Heart failure; Single ventricle
    DOI:  https://doi.org/10.1016/j.anclin.2019.08.005
  5. Pediatr Cardiol. 2019 Nov 08.
    Haughey BS, White SC, Pacheco GS, Fox KA, Seckeler MD.
      Single ventricle congenital heart disease (SV CHD) patients are at risk of morbidity and mortality between the first and second palliative surgical procedures (interstage). When these patients present acutely they often require invasive intervention. This study sought to compare the outcomes and costs of elective and emergent invasive cardiac procedures for interstage patients. Retrospective review of discharge data from The Vizient Clinical Data Base/Resource Manager™, a national health care analytics platform. The database was queried for admissions from 10/2014 to 12/2017 for children 1-6 months old with ICD-9 or ICD-10 codes for SV CHD who underwent invasive cardiac procedures. Demographics, length of stay (LOS), complication rate, in-hospital mortality and direct costs were compared between elective and emergent admissions using t test or χ2, as appropriate. The three most frequently performed procedures were also compared. 871 admissions identified, with 141 (16%) emergent. Age of emergent admission was younger than elective (2.9 vs. 4 months p < 0.001). Emergent admissions including cardiac catheterization or superior cavo-pulmonary anastomosis had longer LOS (58.7 vs. 25.8 day, p < 0.001 and 54.8 vs .22.6 days, p < 0.001) and higher costs ($134,774 vs. $84,253, p = 0.013 and $158,679 vs. $81,899, p = 0.017). Emergent admissions for interstage SV CHD patients undergoing cardiac catheterization or superior cavo-pulmonary anastomosis are associated with longer LOS and higher direct costs, but with no differences in complications or mortality. These findings support aggressive interstage monitoring to minimize the need for emergent interventions for this fragile patient population.
    Keywords:  Emergency; Interstage; Intervention; Outcomes
    DOI:  https://doi.org/10.1007/s00246-019-02247-4
  6. World J Pediatr Congenit Heart Surg. 2019 Nov;10(6): 702-706
    Evans WN, Acherman RJ, Ciccolo ML, Lehoux J, Rothman A, Galindo A.
      BACKGROUND: We reviewed data on patients born with critical congenital heart disease in the state of Nevada and analyzed detection via prenatal diagnosis versus newborn pulse oximetry screening, location of birth, and gestational age at birth.METHODS: We inquired our databases and electronic health records for all patients with critical congenital heart disease born in Nevada between January 2016 and May 2019.
    RESULTS: We identified 218 live born patients. Of the 218, average gestational age was 38 weeks (±2.2 weeks). Of the 218, 171 (78%) were prenatally diagnosed, 37 (17%) were diagnosed by immediate postnatal signs and symptoms, 8 (4%) had false-negative pulse oximetry screens that resulted in post-hospital discharge presentations, and 2 (1%) had positive pulse oximetry screens. The eight post-hospital discharge presentations included four in extremis, two with extreme cyanosis, and two dying at home. Of the 171 prenatally diagnosed patients, 157 (92%) were born at the Nevada hospital with the congenital cardiac unit.
    CONCLUSION: To the best of our knowledge, our results represent the highest statewide, general population prenatal detection of critical congenital heart disease in the United States. Our high prenatal detection rate led to the majority of patients being born at the Nevada facility with the congenital heart unit, limiting intrastate neonatal transports. On average, patients were born at term. Further, in Nevada, state-mandated, universal pulse oximetry screening resulted in more false-negative results than positive results.
    Keywords:  critical congenital heart disease; prenatal diagnosis; pulse oximetry
    DOI:  https://doi.org/10.1177/2150135119873847
  7. Semin Thorac Cardiovasc Surg. 2019 Nov 04. pii: S1043-0679(19)30333-8. [Epub ahead of print]
    Hiraiwa A, Ibuki K, Tanaka T, Hirono K, Miya K, Yoshimura N, Ichida F.
      To examine whether neurodevelopment at preschool age predicts IQ levels and needs for special education services in school-age children with single ventricle (SV) physiology. Thirty-five patients with SV physiology were assessed using the Bayley Scale of Infant and Toddler Development (BSID) II or III at 3 years and the Wechsler Intelligence Scale for Children-Fourth Edition (WISC) at 8 years. Whether the children were receiving special education services was also determined. Factors associated with the Mental Developmental Index (MDI) of the BSID, the full-scale IQ (FSIQ) of the WISC, and special education services were also analyzed. The MDI and FSIQ of children with SV physiology were significantly lower than the values in healthy children (P < 0.01). The MDI at 3 years was moderately correlated with FSIQ at 8 years (P < 0.01, R2 = 0.41). Ten patients (28.6%) received special education services in their school. Children with MDI < 85 were more likely than those with MDI ≥ 85 to require special education services at school age (53% and 10%, respectively, p < 0.01). Weight at birth and Stage II were correlated with the MDI, extracorporeal circulation time at stage II was correlated with FSIQ, and age at Fontan operation was correlated with FSIQ and special education services. The toddler neurodevelopment index may predict not only IQ levels, but also the need for special education services in school-age children. Children with low neurodevelopmental scores need to be followed closely for a long time.
    Keywords:  IQ levels; Neurodevelopment; School age; Single ventricle physiology; Special education services
    DOI:  https://doi.org/10.1053/j.semtcvs.2019.10.017
  8. Can J Cardiol. 2019 Jul 16. pii: S0828-282X(19)30481-7. [Epub ahead of print]
    Khairy P.
      The expanding population of adults with congenital heart disease (CHD) combined with the pervasiveness of arrhythmias has resulted in the rapid growth of a dedicated sector of cardiology at the intersection between 2 subspecialties: electrophysiology and adult CHD. Herein, practical considerations are offered regarding urgent referral for catheter ablation of atrial arrhythmias, anticoagulation, and primary prevention implantable cardioverter-defibrillators (ICDs). Patients with Ebstein anomaly and ventricular pre-excitation should be referred promptly due to the high prevalence of multiple accessory pathways and increased incidence of atrial tachyarrhythmias, which may be poorly tolerated. In patients with transposition of the great arteries and atrial switch surgery, atrial arrhythmias should be managed without delay because they could provoke ventricular arrhythmias and sudden death. Other settings in which atrial arrhythmias can be poorly tolerated include single ventricle physiology and Eisenmenger syndrome. Long-term anticoagulation is generally indicated in patients with sustained intra-atrial reentrant tachycardia or atrial fibrillation and a mechanical valve, moderate or severe systemic atrioventricular valve stenosis, traditional risk factors for stroke, and/or moderate or complex CHD. The only class I indication for a primary prevention ICD is a systemic left ventricular ejection fraction ≤ 35%, with biventricular physiology, and New York Heart Association class II or III symptoms. ICD therapy is reasonable in selected adults with tetralogy of Fallot and multiple risk factors for sudden death identified by observational studies. Indications for ICDs in patients with systemic right ventricles and univentricular hearts are less well established, underscoring the need for future research to inform risk stratification.
    DOI:  https://doi.org/10.1016/j.cjca.2019.07.009
  9. Neurosci Biobehav Rev. 2019 Nov 01. pii: S0149-7634(19)30681-5. [Epub ahead of print]
    Savory K, Manivannan S, Zaben M, Uzun O, Ahmed Syed Y.
      Copy number variant (CNV) syndromes are often associated with both neurocognitive deficits (NCDs) and congenital heart defects (CHDs). Children and adults with cardiac developmental defects likely to have NCDs leading to increased risk of hospitalisation and reduce independence. To date, the association between these two phenotypes have not been explored in relation to CNV syndromes. In order to address this question, we systematically reviewed the prevalence of CHDs in a range of CNV syndromes associated with NCDs. A meta-analysis showed a relationship with the size of CNV and its association with both NCDs and CHDs, and also inheritance pattern. To our knowledge, this is the first review to establish association between NCD and CHDs in CNV patients, specifically in relation to the severity of NCD. Importantly, we found specific types of CHDs were associated with severe neurocognitive deficits. Finally, we discuss the implications of these results for patients in the clinical setting which warrants further exploration of this association in order to lead improvement in the quality of patient's life.
    Keywords:  Copy; congenital heart defect; neurocognitive deficit; neurodevelopment; number variant syndrome
    DOI:  https://doi.org/10.1016/j.neubiorev.2019.10.020
  10. Am J Cardiol. 2019 Oct 11. pii: S0002-9149(19)31093-8. [Epub ahead of print]
    Ghimire LV, Chou FS, Devoe C, Moon-Grady A.
      Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease (CHD) and optimal timing for total repair of TOF is controversial. We hypothesize that TOF repair in the neonatal period is associated with worse outcomes compared with those who undergo repair later in infancy. We analyzed data using the Kids' Inpatient Database (KID) from 2003 to 2012. We used multivariable logistic regression analyses to compare the in-hospital outcomes between those who underwent total repair of TOF during the neonatal period vs the postneonatal period. There were 6,856 cases of TOF and 7.83% (n = 537) of those underwent repair during the neonatal period. The average mortality in all TOF repair was 2.1% (n = 147). In multiple regression model, compared with repair in postneonatal period, neonatal repair was associated with increased mortality, with adjusted odds ratio of 2.2 (95% confidence interval [CI]: 1.1 to 4.3, p = 0.023). Regarding complications, the neonatal group was associated with higher risk of acute renal failure (8.9% vs 2.3%, p <0.001), need for cardiac catheterization (18.6% vs 8.3%, p <0.001), and ECMO use (4.4% vs1.6%, p <0.001). There was no difference in the rates of arrhythmia, respiratory failure, pulmonary hypertension, or sudden cardiac arrest. Children who underwent repair in the neonatal period had longer hospital stay compared with the postneonatal group (45.5 days [95% CI: 39.3 to 51.7] vs 12.6 days [95% CI: 11.7 to 13.4], p <0.001). Hospital charges were higher for children who underwent repair in the neonatal period compared with those in the postneonatal period. In conclusion, TOF repair in the neonatal period is associated with higher rates of mortality, more postoperative complications, longer hospital stays, and higher hospitalization cost.
    DOI:  https://doi.org/10.1016/j.amjcard.2019.09.025
  11. Arch Cardiol Mex. 2019 ;89(1): 138-146
    Calderón-Colmenero J.
      Congenital heart diseases (CHDs) are considered the most frequent malformations. In Mexico, every year between 12 and 16 thousand children are born with some type of CHD and it is the second cause of mortality in children under 1 year of age and in children aged between 1 and 4 years. The problem of the care of CHDs is analyzed from a perspective of health policies in the country with an emphasis on regionalizing their care to rationalize the use of available resources and with the aim of serving the largest number of patients and achieve the best clinical results. It emphasizes the need to promote cooperation among the different civil society organizations and institutions to exchange ideas to create consensus and joint projects for a better use of available resources to achieve universal and quality care of children with CHD in all the country.
    Keywords:  Cardiopatías congénitas; Cateterismo intervencionista; Child mortality; Cirugía cardíaca; Congenital heart disease; Health policies; Heart surgery; Interventional catheterization; Mexico; Mortalidad infantil; México; Políticas de salud
    DOI:  https://doi.org/10.24875/ACME.M19000036
  12. World J Pediatr Congenit Heart Surg. 2019 Nov;10(6): 694-701
    Mahajan P, Ebenroth ES, Borsheim K, Husain S, Bo N, Herrmann JL, Rodefeld MD, Turrentine MW, Brown JW, Patel JK.
      BACKGROUND: The optimal surgical strategy for tetralogy of Fallot (TOF) repair in neonates and young infants requiring early surgical intervention remains controversial. Our surgical center follows the uniform strategy of a staged approach with initial systemic-to-pulmonary artery shunt the majority of time when early surgical intervention is required. We characterized a contemporary cohort of patients with TOF with pulmonary stenosis (PS) undergoing staged repair in order to determine the rate of pulmonary valve-sparing repair (PVSR), growth of the pulmonary valve annulus and pulmonary arteries, postoperative morbidity and mortality, and need for reintervention.METHODS: We retrospectively studied patients with TOF/PS who underwent staged repair from 2000 to 2017. Surgical details, postoperative course, and reinterventions were noted. Echocardiographic measurements and Z-score values of pulmonary valve annulus, main pulmonary artery (MPA), right pulmonary artery (RPA), and left pulmonary artery (LPA) diameters were evaluated.
    RESULTS: Of the 59 patients with staged TOF/PS, PVSR was performed in 25 (42%). There was a 5% incidence of postoperative arrhythmia. The Z-scores of MPA, RPA, and LPA were significantly higher before complete repair when compared to before palliative shunt. The 5 and 10-year survival rates were both 93%, and the probability of freedom from reoperation at 5 and 10 years was 87% and 82%, respectively.
    CONCLUSIONS: Staged repair of TOF in young symptomatic infants results in 42% receiving PVSR, pulmonary artery growth, low incidence of postoperative arrhythmia, and relatively low rate of reoperations.
    Keywords:  congenital heart disease; congenital heart surgery; outcomes; postoperative care; pulmonary arteries; shunts (systemic to pulmonary artery)
    DOI:  https://doi.org/10.1177/2150135119874035
  13. World J Pediatr Congenit Heart Surg. 2019 Nov;10(6): 669-677
    Lotto R, Jones I, Seaton SE, Dhannapuneni R, Guerrero R, Lotto A.
      INTRODUCTION: Interpretation of risk by parents of children undergoing congenital cardiac surgery is poorly documented. The available evidence highlights a dichotomy where clinicians suggest parents may not grasp the complexity and risk associated with procedures, while some parents suggest risk is unnecessarily overemphasized.AIM: To quantify how risk is perceived by parents.
    METHODS: One hundred six parents of children undergoing cardiac surgery were recruited and completed a Likert-type scale from 1 (perceived low risk) to 6 (perceived high risk), at 5 points: arrival at preadmission, post discussion with anethetist/surgeon, day of surgery, discharge from intensive care, and at outpatient follow-up. The surgical sample was stratified according to Risk Adjustment in Congenital Heart Surgery level.
    ANALYSIS: Data were analyzed using Wilcoxon rank tests for differences in distributions of scores and Krippendorff α to examine the level of agreement.
    RESULTS: Median parental risk scores varied over time, with no consistent risk scores observed. Maternal scores were consistently higher than paternal scores at every time point (P < .001). Postoperative complications resulted in a persistent rise in risk perception at follow-up (P < .001). Analysis of parental risk scores and objective measures of surgical risk highlighted poor agreement that was particularly marked at the extremes of risk.
    CONCLUSIONS: Parents perceived higher risk scores than those reported by the clinical team. Mothers reported statistically significantly higher scores than their partners, highlighting potential tensions. In addition, the changing perception of risk over time emphasizes the need for flexible levels of support and information as parents navigate uncertainty.
    Keywords:  congenital cardiac surgery; congenital heart disease; quantitative; risk perception
    DOI:  https://doi.org/10.1177/2150135119872489