bims-hylehe Biomed News
on Hypoplastic left heart syndrome
Issue of 2020‒03‒29
ten papers selected by
Richard James
University of Pennsylvania


  1. Prog Cardiovasc Dis. 2020 Mar 19. pii: S0033-0620(20)30059-1. [Epub ahead of print]
    Tran D, Maiorana A, Ayer J, Lubans DR, Davis GM, Celermajer DS, d'Udekem Y, Cordina R.
      The population of adults living with congenital heart disease (CHD) has grown rapidly in recent decades due to major advances in surgical and medical care. Although the benefits of physical activity (PA) and exercise are well recognised in the management of chronic diseases, the therapeutic role of exercise for the CHD population has been under-studied and under-recognised. In fact, people living with complex CHD have traditionally been advised against participation in moderate or vigorous PA due to safety concerns. However, a small but growing body of literature has demonstrated that PA and exercise are safe and beneficial for the vast majority of people with CHD following appropriate screening. Exercise training (ET) is a potent therapy to improve well-being and cardiorespiratory fitness, which likely has important implications for prognosis. This has led to ET becoming an increasingly important adjunct to medical therapy in the management of this group who frequently have significant exercise limitation and complex medical issues. However, there is currently limited evidence-based guidance that has been published regarding appropriate exercise prescription in adults with CHD. This article aims to provide an overview of different congenital heart conditions, their impact on the exercise response and to provide considerations and recommendations for ET in adolescents and adults living with CHD based on the available literature.
    Keywords:  Aerobic training; Eisenmenger's syndrome; Fontan circulation; Physical activity; Pulmonary hypertension; Resistance training; Tetralogy of Fallot; Transposition of the great arteries
    DOI:  https://doi.org/10.1016/j.pcad.2020.03.002
  2. Telemed J E Health. 2020 Mar 26.
    Mattos SDS, Moser LRDN, Diogenes TCP, Severi R, de Araújo JSS, Albuquerque FCL, Tavare TR, Mourato FA.
      Background: Congenital heart disease (CHD) affects 1% of all newborns and is a major public health problem. Most children with CHD benefit from early diagnosis to optimize management. However, in many places there are no specialized professionals to do so. Introduction: A screening method for CHD was developed between two states in Northeast Brazil. It was based upon the performance of an echocardiogram by local pediatricians with support of pediatric cardiologists through telemedicine. Objective: To determine if the continuous performance of examinations together with online supervision increased the level of understanding of the pediatricians about the echocardiograms. Methods: Pediatricians received online support to perform echocardiograms for 7 years (2012-2018). Although the project aimed to teach them to acquire images and send to the cardiologists for analysis and interpretation, they were encouraged to describe their own diagnostic impressions. The level of agreement between pediatricians and cardiologists was calculated. Results: A large number (n = 3,951) echocardiograms was analyzed. From them, 2,818 were classified as abnormal, inconclusive, or normal by both the pediatricians and the cardiologists. The 7-year analysis demonstrated an overall agreement of 63.7%. As for the final diagnosis, it was possible to compare 1,457 echocardiograms. The combined analysis of the 7 years demonstrated agreement in 62.2%. Discussion: The screening of CHD under online support led to more in-depth learning of echocardiography by the pediatricians. This approach potentialized the accuracy of the screening through the years. Conclusion: By enrolling in a telemedicine-based screening program, the pediatricians' degree of understanding of echocardiography increased considerably.
    Keywords:  cardiology/cardiovascular disease; education; pediatrics; telecardiology; telemedicine
    DOI:  https://doi.org/10.1089/tmj.2019.0196
  3. J Am Heart Assoc. 2020 Apr 07. 9(7): e013575
    Rettenmaier LA, Kirby PA, Reinking BE, Viaene AN, Hefti MM.
      Background As a result of medical and surgical advancements in the management of congenital heart disease (CHD), survival rates have improved substantially, which has allowed the focus of CHD management to shift toward neurodevelopmental outcomes. Previous studies of the neuropathology occurring in CHD focused on cases preceding 1995 and reported high rates of white matter injury and intracranial hemorrhage, but do not reflect improvements in management of CHD in the past 2 decades. The purpose of this study is therefore to characterize the neuropathological lesions identified in subjects dying from CHD in a more-recent cohort from 2 institutions. Methods and Results We searched the autopsy archives at 2 major children's hospitals for patients with cyanotic congenital cardiac malformations who underwent autopsy. We identified 50 cases ranging in age from 20 gestational weeks to 46 years. Acquired neuropathological lesions were identified in 60% (30 of 50) of subjects upon postmortem examination. The most common lesions were intracranial hemorrhage, most commonly subarachnoid (12 of 50; 24%) or germinal matrix (10 of 50; 20%), hippocampal injuries (10 of 50; 20%), and diffuse white matter gliosis (8 of 50; 16%). Periventricular leukomalacia was rare (3 of 50). Twenty-six subjects underwent repair or palliation of their lesions. Of the 50 subjects, 60% (30 of 50) had isolated CHD, whereas 24% (12 of 50) were diagnosed with chromosomal abnormalities (trisomy 13, 18, chromosomal deletions, and duplications) and 16% (8/50) had multiple congenital anomalies. Conclusions In the modern era of pediatric cardiology and cardiac surgery, intracranial hemorrhage and microscopic gray matter hypoxic-ischemic lesions are the dominant neuropathological lesions identified in patients coming to autopsy. Rates of more severe focal lesions, particularly periventricular leukomalacia, have decreased compared with historical controls.
    Keywords:  congenital heart disease; hypoxia; intracerebral hemorrhage; neuropathology; neuropediatrics
    DOI:  https://doi.org/10.1161/JAHA.119.013575
  4. Cardiol Young. 2020 Mar 27. 1-10
    Oberhuber RD, Huemer S, Mair R, Sames-Dolzer E, Kreuzer M, Tulzer G.
      Data from neurological and radiological research show an abnormal neurological development in patients treated for hypoplastic left heart syndrome. Thus, the aim of this study was to survey the quality of life scores in comparison with healthy children and children with other heart diseases (mild, moderate, and severe heart defects, heart defects in total). Children with hypoplastic left heart syndrome (aged 6.3-16.9 years) under compulsory education requirements, who were treated at the Children's Heart Center Linz between 1997 and 2009 (n = 74), were surveyed. Totally, 41 children and 44 parents were examined prospectively by psychologists according to Pediatric Quality of Life Inventory, a health-related quality of life measurement. The results of the self-assessments of health-related quality of life on a scale of 1-100 showed a wide range, from a minimum of 5.00 (social functioning) to a maximum of 100 (physical health-related summary scores, emotional functioning, school functioning), with a total score of 98.44. The parents' assessments (proxy) were quite similar, showing a range from 10 (social functioning) up to 100. Adolescent hypoplastic left heart syndrome patients rated themselves on the same level as healthy youths and youths with different heart diseases. The results show that patients with hypoplastic left heart syndrome aged 6-16 years can be successfully supported and assisted in their psychosocial development even if they show low varying physical and psychosocial parameters. The finding that adolescent hypoplastic left heart syndrome patients estimated themselves similar to healthy individuals suggests that they learnt to cope with a severe heart defect.
    Keywords:  Adolescence; children; health-related quality of life; hypoplastic left heart syndrome; long-term follow-up
    DOI:  https://doi.org/10.1017/S1047951120000554
  5. Arch Argent Pediatr. 2020 Apr;118(2): e149-e161
    Meller CH, Grinenco S, Aiello H, Córdoba A, Sáenz-Tejeira MM, Marantz P, Otaño L.
      Among congenital malformations, heart defects are the most common type of anomaly, and these are associated with a high perinatal, longterm morbidity and mortality. The objective of this update was to review the rate of prenatal detection, screening characteristics throughout the pregnancy, in both the first and second trimesters, indications for advanced echocardiography, and to establish a management algorithm in case of prenatal diagnosis of a congenital heart disease. Potential invasive and non-invasive tests and obstetric follow-up will be discussed here. Finally, the main characteristics of fetal therapy in heart anomalies will be reviewed, both cardiac interventions and intrauterine treatment of arrhythmias.
    Keywords:  congenital heart disease; fetal therapy; prenatal diagnosis; screening
    DOI:  https://doi.org/10.5546/aap.2020.eng.e149
  6. PLoS One. 2020 ;15(3): e0230414
    Mebius MJ, Bilardo CM, Kneyber MCJ, Modestini M, Ebels T, Berger RMF, Bos AF, Kooi EMW.
      BACKGROUND: The exact onset of brain injury in infants with congenital heart disease (CHD) is unknown. Our aim was, therefore, to assess the association between prenatal Doppler flow patterns, postnatal cerebral oxygenation and short-term neurological outcome.METHODS: Prenatally, we measured pulsatility indices of the middle cerebral (MCA-PI) and umbilical artery (UA-PI) and calculated cerebroplacental ratio (CPR). After birth, cerebral oxygen saturation (rcSO2) and fractional tissue oxygen extraction (FTOE) were assessed during the first 3 days after birth, and during and for 24 hours after every surgical procedure within the first 3 months after birth. Neurological outcome was determined preoperatively and at 3 months of age by assessing general movements and calculating the Motor Optimality Score (MOS).
    RESULTS: Thirty-six infants were included. MOS at 3 months was associated with MCA-PI (rho 0.41, P = 0.04), UA-PI (rho -0.39, P = 0.047, and CPR (rho 0.50, P = 0.01). Infants with abnormal MOS had lower MCA-PI (P = 0.02) and CPR (P = 0.01) and higher UA-PI at the last measurement (P = 0.03) before birth. In infants with abnormal MOS, rcSO2 tended to be lower during the first 3 days after birth, and FTOE was significantly higher on the second day after birth (P = 0.04). Intraoperative and postoperative rcSO2 and FTOE were not associated with short-term neurological outcome.
    CONCLUSION: In infants with prenatally diagnosed CHD, the prenatal period may play an important role in developmental outcome. Additional research is needed to clarify the relationship between preoperative, intra-operative and postoperative cerebral oxygenation and developmental outcome in infants with prenatally diagnosed CHD.
    DOI:  https://doi.org/10.1371/journal.pone.0230414
  7. J Child Health Care. 2020 Mar 27. 1367493520914738
    Parker R, McKeever S, Houghton S, Bichard E.
      Congenital heart disease (CHD) is the most common birth defect. Little is known of the impact of having a sibling with CHD. Available literature documents negative impact of having a sibling with other chronic conditions. This literature review considers empirical evidence investigating the impact of having a sibling with CHD. Twelve databases were searched, and 202 articles retrieved. Eleven articles met the inclusion criteria and were subject to data extraction, quality appraisal, and narrative synthesis. Three themes emerged: changes in normal life, impact on siblings, and factors affecting the extent of impact on siblings. Only one intervention study was identified, 5 of 10 studies were conducted over 20 years ago, and only 4 studies included children as participants. Evidence suggests siblings of children with CHD experience adverse life changes which lead to negative impacts in several domains. Evidence is inconclusive regarding mitigating factors of these impacts. Further research is needed to understand the experiences of being a sibling of a child with CHD.
    Keywords:  Congenital; health impact assessment; heart defects; literature review; siblings
    DOI:  https://doi.org/10.1177/1367493520914738
  8. Pediatr Transplant. 2020 Mar 25. e13707
    Marcos-Alonso S, Gil N, García-Guereta L, Albert D, Tejero MÁ, Perez-Villa F, Gómez Bueno M, Blasco Peiró T, Cano A, Díaz Molina B, Rangel Sousa D.
      Evidence on the impact of MCS on pediatric heart transplant survival is still scarce related to congenital heart disease patients including univentricular physiology as well as the risk factors for complications. We performed a retrospective review of all urgent pediatric (aged ≤16 years) HT from 2004 to 2014 in the Spanish Pediatric Heart Transplant Registry Group. Patients were stratified into two groups: urgent 0 (MCS at HT) and urgent 1 (non-MCS at HT). The primary outcome measure was post-transplant survival; secondary outcome measures were complications and absence of infections and rejection during the first post-transplant year. One hundred twenty-one pediatric patients underwent urgent HT, 58 (47.9%) urgent 0 and 63 (52%) urgent 1. There were 30 (24.8%) deaths: 12 in the urgent 0 group and 18 in the urgent 1 group, P = n.s. Regarding the type of MCS, patients on ECMO had the highest rate of complications (80%) and mortality (40%). Patients in the urgent 1 group showed a higher risk of hospital re-admission for infection during the first year after transplantation (OR 2.31 [1.1-4.82]), P = .025. We did not identify a risk factor for mortality. MCS does not impact negatively on survival after HT. However, there is a significant increase in 30-day and 1-year mortality and complications in ECMO patients compared with VAD patients. Infants, congenital heart disease, and PediMACS were not found to be risk factors for mortality.
    Keywords:  bridge to heart transplant; mechanical circulatory support; pediatrics
    DOI:  https://doi.org/10.1111/petr.13707
  9. J Heart Lung Transplant. 2020 Feb 13. pii: S1053-2498(20)31391-7. [Epub ahead of print]
    Punnoose LR, Coscia LA, Armenti DP, Constantinescu S, Moritz MJ.
      BACKGROUND: The population of female heart transplant recipients of reproductive age is growing, and counseling regarding reproductive decisions is important. We describe maternal and fetal outcomes of pregnancy in the Transplant Pregnancy Registry International.METHODS: Data regarding pregnancies between 1987 and 2016 were collected via questionnaires, phone interviews, and medical records review. Demographics, comorbidities, changes in immunosuppressive regimens, rejection episodes during pregnancy, data on maternal retransplants, and deaths were recorded.
    RESULTS: A total of 91 patients reported 157 pregnancies. Mean maternal age at conception was 27 ± 5.6 years. The most common indications for transplant were congenital heart disease (22%) and viral myocarditis (18%). Average transplant to conception interval was 7 ± 6.1 years. Immunosuppression was calcineurin inhibitor-based in almost all patients, with 20% of recipients taking mycophenolic acid (MPA) while pregnant. Complications during pregnancy included pre-eclampsia (23%) and infections (14%). Rejection was reported during 9% of pregnancies and within 3 months postpartum in 7%. Livebirths occurred in 69%, with no neonatal deaths. Miscarriages occurred in 26% of pregnancies, 49% of which had MPA exposure. Mean follow-up post pregnancy was 8.9 ± 6.5 years. At last follow-up, 30 recipients had died, an average of 9.4 ± 6.2 years after pregnancy. The most common causes included allograft vasculopathy and rejection.
    CONCLUSIONS: This is the largest reported series of pregnancies in heart transplant recipients and demonstrates that two thirds of pregnancies reported are successful. MPA exposure is associated with increased risk of teratogenicity and miscarriage. Pre-pregnancy counseling should include discussions of risk of MPA exposure, rejection, graft dysfunction, and maternal survival.
    Keywords:  heart transplant; immunosuppression; pregnancy; reproductive counseling; transplant pregnancy registry
    DOI:  https://doi.org/10.1016/j.healun.2020.02.005
  10. Eur J Cardiothorac Surg. 2020 Mar 24. pii: ezaa041. [Epub ahead of print]
    Kobayashi Y, Kotani Y, Kuroko Y, Kawabata T, Sano S, Kasahara S.
      OBJECTIVES: The aim of this study was to evaluate the long-term outcomes of the Norwood procedure with right ventricle-pulmonary artery (RV-PA) conduit for hypoplastic left heart complex.METHODS: A retrospective observational study was performed in 136 patients with hypoplastic left heart complex who underwent a Norwood procedure with RV-PA conduit between 1998 and 2017. The probabilities of survival, reintervention and Fontan completion were analysed.
    RESULTS: Stage 1 survival was 91.9% (125/136). Reintervention for PA stenosis was needed for 22% and 30% at stages 2 and 3, respectively, while 15% underwent reintervention for aortic arch recoarctation. Among 106 bidirectional Glenn survivors, 93 (68% of the total number of patients) had a Fontan completion, while 4 were not considered to be Fontan candidates. Risk factors for overall mortality included weighing <2.5 kg at the time of the Norwood procedure, intact atrium septum, total anomalous pulmonary vein connection and more than mild atrioventricular regurgitation at the time of the Norwood procedure. Overall survival was 80.9%, 72.3% and 62.8% at 1, 5 and 20 years, respectively.
    CONCLUSIONS: Probabilities of survival and Fontan completion were acceptable under the current surgical strategy incorporating RV-PA Norwood procedure as the first palliation. Incorporating a strategy to maintain PA growth and ventricular function through the staged repair is of prime importance. Further studies are necessary to observe changes in atrioventricular regurgitation as well as in right ventricular function, in patients who require atrioventricular valve interventions during the staged Fontan completion.
    Keywords:  Fontan completion; Hypoplastic left heart complex; Norwood; Right ventricle–pulmonary artery conduit; Tricuspid regurgitation
    DOI:  https://doi.org/10.1093/ejcts/ezaa041