1. Hypoplastic Left Heart Syndrome (HLHS) © Copyright 2010

2. About HLHS http://www.nlm.nih.gov/medlineplus/ency/images/ency/fullsize/22705.jpg Underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.

3. About HLHS Occurs in about 0.02% of live births Prevalence changing as prenatal diagnosis allows diagnosis earlier in pregnancy.

4. HLHS outcomes improving over time

5. Children’s Hospital, Philly, 1989-91 151 patients treated using three-stage approach 109 (72%) early survivors. 78 underwent hemi-Fontan operation; 69 survivors (88%). 27/78 patients have subsequently undergone definitive Fontan procedures with no deaths. Anticipated overall survival 63% Norwood. Ann Thoracic Surgery. 1991.

6. Edmonton, 1990-95 158 patients 120/158 (76%) survivors of stage I 102/106 (96%) survivors of stage II 53/62 (85%) survivors of stage III (Fontan) Actuarial survival – 58% at 5 years. Better with normal anatomy (71%) Bove et al. Ann Surg. 1996.

7. Alberta results and choices Shift in outcomes and choices over time –1987-93: 25% treatment; 75% hospice; 0% survival –1994-96: 37% treatment; 63% hospice; 62% survival –1996-98:95% treatment; 5% hospice; 78% survival Survival to discharge improved from 0% to 78% Osiovich et al. J Perinatol. 2000.

8. Outcomes better for patients with “standard risk” compared to those at “high risk.” High risk group: non-cardiac congenital anomalies, pulmonary venous obstruction, age >1 month at initial surgery Bove et al. Ann Surg. 1996.

9. Actuarial survival for babies who undergo stage I – Boston Children’s, 2001-6 Pigula et al. Semin Thorac Cardiovasc Surg. 2007.

10. Outcomes have improved over time, but vary with anatomic subtype Pigula et al. Semin Thorac Cardiovasc Surg. 2007.

11. Outcomes for 79 fetuses diagnosed with HLHS in Birmingham, England, between 2000 and 2004. 25% of parents chose to terminate the pregnancy. Of the rest 10% stillborn 25% compassionate care 15% died before surgery 50% had surgery 2/3 of babies who had surgery survived. Rasiah et al. Arch Dis Child Fetal Neonatal Ed. 2008.

12. Neurodevelopmental outcomes 7/11 survivors with “major developmental disabilities”* Median IQ 66, 57% had CP** Median IQ 86, 18% with MR, 33% in special ed.*** 3/31 survivors have “significant neurologic impairment.**** * Rogers et al. J Peds. 1995. ** Miller et al. J Child Neurol. 1996. *** Mahle et al. Peds. 2000. **** Andrews et al. Arch Dis Child. 2001.

13. Neurologic problems associated with congenital heart disease (CHD) 41 newborns with CHD MRI, MRS, and DTI (diffusion tensor imaging) White matter injury in 13 (32%) newborns with CHD, none in control newborns. Miller et al NEJM 2007

14. Developmental outcomes after heart transplantation 26 infants evaluated after transplant for HLHS Bayley Scales of Infant Development –MDI 88 (range <50 to 102) –PDI 86.5 (<50 to 113), Wechsler Preschool and Primary Scale of Intelligence or Wechsler Intelligence Scale for Children-III –mean verbal score of 90.5, –mean performance score of 88.9 –full scale score of 88.5 Vineland scales, 39% scored >1 SD below the mean on measures of daily living scales, 22% on the socialization subscale, 48% on the communication subscale, and 52% on the adaptive behavior scale.

15. Copyright ©2000 American Academy of Pediatrics Mahle et al. Pediatrics. 2000. Full scale, verbal, and performance IQ tests and the CELF-R test among HLHS survivors at age 8

16. What would MDs and RNs do? Subjects: 54 pediatric residents and 543 pediatric nurses at 3 pediatric cardiac centers in Los Angeles, 2005. Response – 29% (RNs) and 43% (MDs) Hypothetical scenarios of fetal diagnosis and newborn diagnosis Renella et al. Prenat Diag. 2007.

17. What would MDs and RNs do? Would you terminate a pregnancy in which the fetus was diagnosed with HLHS? –43% of residents –50% of nurses Would you choose, or seriously consider, comfort care for a newborn with HLHS –48% of residents –68% of nurses Renella et al. Prenat Diag. 2007.

18. Critical care doctors Subjects: 454 attending physicians in the sections of neonatology, pediatric critical care, pediatric cardiology, and congenital cardiac surgery at the largest pediatric cardiac surgery centers in the United States. Survey sent by mail in 1999 Asked about prenatal and neonatal diagnosis of HLHS Kon et al. Am J Cardiol. 2003.

19. Results from doctors 57% response rate 48% would terminate pregnancy, 22% would continue, 30% were uncertain. For newborns, 32% would choose surgery, 28% comfort care, 33% uncertain. Surgeons most likely to choose surgery Choices not associated with perceived postoperative outcomes. Kon et al. Am J Cardiol. 2003.

20. Generalizing from physicians “Because a large proportion of experts would choose nonsurgical care for their own child, this option should be considered reasonable and therefore presented to parents of affected children.” Kon et al. Am J Cardiol. 2003.

21. Prenatal diagnosis of HLHS Majority of cases occur in pregnancies with no risk factors Sensitivity varies with –Experience of the ultrasonographer –Types of views (4-chamber vs. outflow tracts) –Wide range of detection rates: 7-95% Kovalchin et al. Pediatr Cardiol. 2004.

22. Implications of prenatal diagnosis Better medical/surgical management? Better psychological outcomes? More termination of pregnancy?

23. Better management Delivery in tertiary care setting Decreased pre-op morbidity Less acidosis Better end organ perfusion May improve both survival and neurologic outcomes for survivors

24. Flow diagram depicting outcomes of patients with prenatal or postnatal diagnosis (Dx) of HLHS. Are outcomes better with fetal diagnosis? Tworetzky. Circulation. 2001.

25. Prenatal vs. postnatal diagnosis Guy’s Hospital, London Survival with prenatal diagnosis - 49% Survival with postnatal diagnosis – 44% Postnatally diagnosed babies are a selected population who have survived a collapse and transfer prior to surgery.

26. Better psychological outcomes? Normal fetal echocardiography decreased maternal anxiety, increased happiness, and increased the closeness women felt toward their unborn children. Abnormal fetal echocardiography increased maternal anxiety; mothers felt less happy about being pregnant. Sklansky. J Am Soc Echocardiogr. 2002.

27. Europe vs. US 32 prenatal diagnoses of HLHS, Utrecht, 1988- 2001 –16 pregnancy terminations –4 in utero fetal deaths –5 compassionate care after birth, no surgery –7 reconstructive surgery –7 cases had associated extracardiac anomalies Verheijen et al. Herz. 2003.

28. Andrews et al. Arch Dis Child. 2001. Outcome of 174 fetuses diagnosed antenatally at Guy's Hospital with HLHS. TOP, termination of pregnancy; IUD, intrauterine death.

29. Comparison of parental decisions in the U.S., the UK, and the Netherlands after prenatal diagnosis of HLHS Verheijen et al. Herz. 2003. TOP = termination of pregnancy CC = compassionate care ITT = intention to treat

30. References Andrews R, Tulloh R, Sharland G, Simpson J, Rollings S, Baker E, Qureshi S, Rosenthal E, Austin C, Anderson D. Outcome of staged reconstructive surgery for hypoplastic left heart syndrome following antenatal diagnosis. Arch Dis Child. 2001 Dec;85(6):474-7.Outcome of staged reconstructive surgery for hypoplastic left heart syndrome following antenatal diagnosis Bove EL, Lloyd TR. Staged reconstruction for hypoplastic left heart syndrome. Contemporary Results. Ann Surg. Sep;224(3):387-94, discussion 394-95.Staged reconstruction for hypoplastic left heart syndrome. Contemporary Results Kon AA, Ackerson L, Lo B. Choices physicians would make if they were the parents of a child with hypoplastic left heart syndrome. Am J Cardiol. 2003 Jun 15;91(12):1506-9,A9.Choices physicians would make if they were the parents of a child with hypoplastic left heart syndrome Kovalchin JP, Silverman NH. The impact of fetal echocardiography. Pediatr Cardiol. 2004 May- Jun;25(3):299-306.The impact of fetal echocardiography Mahle WT, Clancy RR, Moss EM, Gerdes M, Jobes DR, Wemovsky G. Neurodevelopmental outcome and lifestyle assessment in school-aged and adolescent children with hypoplastic left heart syndrome. Pediatrics. 2000 May;105(5):1082-9.Neurodevelopmental outcome and lifestyle assessment in school-aged and adolescent children with hypoplastic left heart syndrome Miller G, Tesman JR, Ramer JC, Baylen BG, Myers JL. Outcome after open-heart surgery in infants and children. J Child Neurol. 1996 Jan;11(1):49-53.Outcome after open-heart surgery in infants and children Norwood WI Jr. Hypoplastic Left Heart Syndrome. Ann Thorac Surg. 1991 Sept;52(3):688-95.Hypoplastic Left Heart Syndrome Osiovich H, Phillipos E, Byrne P, Robertson M. Hypoplastic Left Heart Syndrome: “To Treat or Not to Treat”. J Perinatol. 2000 Sep;20(6):363-5.Hypoplastic Left Heart Syndrome: “To Treat or Not to Treat”.

31. References – Cont'd. Pigula FA, Vida V, Del Nido P, Bacha E. Contemporary Results and Current Strategies in the Management of Hypoplastic Left Heart Syndrome. Semin Thorac Cardiovasc Surg. 2007 Fall;19(3):238-44.Contemporary Results and Current Strategies in the Management of Hypoplastic Left Heart Syndrome Rasiah SV, Ewer AK, Miller P, Wright JG, Barron DJ, Brown WJ, Kilby MD. Antenatal perspective of hypoplastic left heart syndrome: 5 years on. Arch Dis Child Fetal neonatal Ed. 2008 May;93(3):F192- 7. Epub 2007 Jun 29.Antenatal perspective of hypoplastic left heart syndrome: 5 years on Renella P, Chang RK, Ferry DA, Bart RD, Sklansky MS. Hypoplastic left heart syndrome: attitudes among pediatric residents and nurses towards fetal and neonatal management. Prenat Diagn. 2007 Nov;27(11):1045-55.Hypoplastic left heart syndrome: attitudes among pediatric residents and nurses towards fetal and neonatal management Rogers BT, Msall ME, Buck GM, Lyon NR, Norris MK, Roland JM, Gingell RL, Cleveland DC, Pieroni DR. Neurodevelopmental outcome of infants with hypoplastic left heart syndrome. J Pediatr. 1995 Mar;126(3):496-8.Neurodevelopmental outcome of infants with hypoplastic left heart syndrome Sklansky M, Tang A, levy D, Grossfield P, Kashani I, Shaughnessy R, Rothman A. Maternal psychological impact of fetal echocardiography. J Am Soc Echocardiogr. 2002 Feb;15(2):159-66.Maternal psychological impact of fetal echocardiography Tworetzky W, McElhinney DB, Reddy VM, Brook MM, Hanley FL, Silverman NH. Improved surgical outcome after fetal diagnosis of hypoplastic left heart syndrome. Circulation. 2001 Mar 6;103(9):1269- 73.Improved surgical outcome after fetal diagnosis of hypoplastic left heart syndrome Verheijen PM, Lisowski LA, Plantinga RF, Hitchcock JF, Bennink GB, Stoutenbeek P, Mejboom EJ. Prenatal Diagnosis of the fetus with hypoplastic left heart syndrome management and outcome. Herz. 2003 May;28(3):250-6. Prenatal Diagnosis of the fetus with hypoplastic left heart syndrome management and outcome