HYPOPLASTIC LEFT HEART SYNDROME Diagnostic clues and prenatal therapy

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1 HYPOPLASTIC LEFT HEART SYNDROME Diagnostic clues and prenatal therapy Teresa Alvarez Pediatric Cardiology Gregorio Marañón Hospital

2 Hypoplastic Left Heart Syndrome Hypoplastic left heart syndrome (HLHS) is a spectrum of cardiac malformations with the common denominator of underdeveloped left structures, including the mitral valve, left ventricle and aorta and as a consequence the left ventricle is unable to maintain cardiac output. Incidence 1/ live newborns 2nd most frequent congenital cardiopathy appearing in 1st week of life Mortal Three/four therapeutic options: - Compassionate treatment - Norwood procedure - Heart transplant - Hybrid procedure?

3 Hypoplastic Left Heart Syndrome This is the cardiopathy which has changed most in diagnosis, management and results CONTROVERSY

4 Prenatal diagnosis of HLHS Prenatal diagnosis 2011 In fetal cardiology it is an easy diagnosis, relatively common and with poor therapeutic options

5 Repercussion of prenatal diagnosis on prevalence of congenital cardiopathies Pediatric cardiology 2006;27: The impact of fetal echocardiography on the prevalence of liveborn congenital heart disease. I. Germanakis

6 Repercussion of prenatal diagnosis on prevalence of congenital cardiopathies Changing spectrum and outcome of 705 fetal congenital heart disease cases: 12 years experience in a trird-level center. M. Russo, D. Paladini. J Cardiovasc Med 2008: cardiopathies Increase in isolated cardiopathies Decrease in more severe cardiopathies (HLHS) Improvement in survival Decrease in terminations ( lesser severe cases, more isolated cardiopathies)

7 Repercussion of prenatal diagnosis on prevalence of congenital cardiopathies Gregorio Marañon Hospital experience Number of consultations New cardiopathy diagnosis - Fetal cardiology clinic 4 days per week - The number of HLHS prenatal diagnosis is constant, with an increase in early diagnosis in patients from our area Patients with a relatively simple echographic diagnosis not derived to tertiary center

8 Ideal objectives of prenatal counselling Provide an exact diagnosis of the malformation Provide a clear and realistic scheme of prognosis Explain possible management and treatment options Help parents find best management option Counselling following a diagnosis of congenital heart disease. L. Allan. Prenatal Diagnosis 2004;24:

9 Diagnostic peculiarities of prognostic importance 1. Mitral stenosis- aortic atresia 2. Foramen ovale restriction 3. Minute ascending aorta 4. Tricuspid regurgitation 5. Ventricular dysfunction 6. Associated malformations Difference in mortality for standard patients and patients with risk factors

10 Diagnostic peculiarities of prognostic importance 1. Mitral stenosis- aortic atresia

11 Diagnostic peculiarities of prognostic importance 2. Foramen ovale restriction - Small LA - Accelerated flow in FO - Pathological doppler in pulmonary veins - Absence of decompression veins Poor prognosis factor Hypoplastic left heart syndrome with intact or highly restrictive atrial septum. A.P. Vlabos, J.E. Lock. Circulation 2004; 109:

12 Diagnostic peculiarities of prognostic importance 2. Foramen ovale restriction

13 Diagnostic peculiarities of prognostic importance 2. Foramen ovale restriction 21 pts weeks Success 19 pts Global survival 52%. 2 in utero deaths 12 required urgent postnatal intervention, 42% survival 7 Programmed stage 1, 86% survival

14 Diagnostic peculiarities of prognostic importance 2. Foramen ovale restriction Vasoreactive Response to Maternal Hyperoxygenation (MH) in the Fetus with Hypoplastic Left Heart Syndrome (HLHS) Anita Szwast, Jack Rychik The Fetal Heart Program at the Cardiac Center at The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Circ Cardiovasc Imaging March 3(2):

15 Diagnostic peculiarities of prognostic importance 3. Diminutive ascending aorta

16 Diagnostic peculiarities of prognostic importance 4. Tricuspid regurgitation and ventricular dysfunction

17 Diagnostic peculiarities of prognostic importance 1. MItral stenosis- aortic atresia 2. Foramen ovale restriction 3. Diminutive ascending aorta 4. Tricuspid regurgitation 5. Ventricular dysfunction 6. Associated malformations Not all HLHS are the same Difference in mortality for standard patients and patients with risk factors

18 Diagnostic peculiarities of prognostic importance ANATOMICAL VARIATIONS CONDITIONING PROGNOSIS Perinatal and early surgical outcome for the fetus with hypoplastic left heart syndrome: a 5-year single institutional experience. J. Rychik, A. Szwast. Ultrasound Obstet Gynecol Oct;36(4):465-7 High risk: extracardiac malformations chromosmopathies premature <34 wks Restrictive or integral IA septum TR or severe ventricular dysfunction Standard risk: absence of risk factors

19 Diagnostic peculiarities of prognostic importance ANATOMICAL VARIATIONS CONDITIONING PROGNOSIS Perinatal and early surgical outcome for the fetus with hypoplastic left heart syndrome: a 5-year single institutional experience. J. Rychik, A. Szwast. Ultrasound Obstet Gynecol Oct;36(4): HLHS early diagnosis Genetic anomalies 162 (67.5%)standard risk and 78 (32.5%) high risk When faced with a HLHS prenatal diagnosis it is important to perform a 38 (15.8%) Extracardiac chose termination malformations no neonatal surgery complete evaluation for an accurate diagnosis. One third of cases include risk factors limiting 185 newborns Premature survival (77.1%) but <34 two wks thirds Norwood. have procedure exellent survival Additional cardiac findings as integral AS Tricuspid regurgition or severe ventricular dysfunction 155 survivors/30 deaths (survival 83.8%) Standard risk: survival 92.8% High risk: survival 56%

20 Changes in parental decisions dependent on results Experience with Norwood procedure Centers with most experience report survival rates of 90% con el primer tiempo A survival rate of 80% is common Improving with experience Depending on risk factors Gregorio Marañon Hospital results MORTALIty NORWOOD MORTALIty 45% 19% Hypoplastic left heart syndrome: evolution of different therapeutic options. An Pediatr (Barc) 2008;68(Supl 2):1-378 / pág. 136 SANO

21 Changes in parental decisions dependent on results Experience with Norwood procedure Centers with most experience report survival rates of 90% con el primer tiempo A survival rate of 80% is common Improving with experience Depending on risk factors Low volume < 15 cases/year

22 Changes in parental decisions dependent on results Hypoplastic left heart syndrome: outcome of different therapeutic options. An Pediatr (Barc) 2008;68(Supl 2):1-378 / pág. 136

23 Changes in parental decisions dependent on results As treatment results improve over time the rate of terminations decreases. Fetal cardiology. G. Sharland. Semin Neonatol 2001:6:3-15

24 Changes in parental decisions dependent on results

25 Changes in parental decisions dependent on results Pregnancy termination: Varies among countries and centers in the same country prenatalscreeninganddiagnosis/ prenataldetectionrates Social and religious factors Legal limits Gestational age at diagnosis Associated malformations Chromosomopathies Treatment results

26 Neurological Prognosis and Quality of Life Norwood Procedure Results Long Term No patients over 20 years of age Analyzed results on older patients evaluate techniques that are now out of date Survival After Reconstructive Surgery for Hypoplastic Left Heart Syndrome : A 15-Year Experience From a Single Institution. William T. Mahle, Thomas L. Spray, Gil Wernovsky,. Circulation 2000;102;III-136-III-14 SURVIVAL AT 5 YEARS 50-75%

27 Neurological Prognosis and Quality of Life 88 patients with HLHS born checked at 1 year Exclusion criteria: major malformations o cromosomopathy Bayley scale of infant development II: PDI:desarrollo motor grosero y fino y MDI memory, problem resolution, numerical concepts, vocalization, language and social abilities. Average scale100 (70<2DS) Neuromuscular examination Genetic clinic Abnormal neuromuscular examination 64% Score MDI medio 90 (rango ) con 11% <70 Score PDI medio 73 (rango ) y 48% <70 Score motor se afecta mas que el intelectual RISK OF LOW PDI SCORE: SUSPICION OF GENETIC Syndrome PREMATURE RISK OF LOW MDI SCORE: SUSPICION OF GENETIC SYNDROME PREMATURE ETI PRIOR TO SURGERY Pediatrics 2008:121:

28 Neurological Prognosis and Quality of Life 40 Cardiopathies and 19 control patients Compara C. Complejas frente a CIV Estudio por RMN y Escala de desarrollo de Baley Las cardiopatias mas severas (SVIH) tiene un menor volumen frontal posiblemente por un insulto prenatal y puede ser la causa de la alta incidencia de microcefalia J Thorac cardiovasc Surg 2009;137:146-53

29 Neurological Prognosis and Quality of Life

30 Possibility of AVOIDING HLHS Fundament Flow theory: LSimple anatomical lesion appearing in morphogenesie semilunar valve stenosis Alterations in flow/pressure patterns Postnatal complex malformation Ventricular hypoplasia An early intervention in the 3rd trimester can alter outcome and avoid secondary damage and therefore improve postnatal prognosis Intervention for severe aortic stenosis in the fetus: Altering the progression of left sided heart disease. J. C. Levine, W. Tworetzky. Progress in Pediatric Cardiology 2006:22;71-78

31 Possibility of AVOIDING HLHS It is difficult to select patients who will benefit from prenatal therapy 43 fetus with critical AS with normal left ventricle <30 wks 23 live newborns 17 HLHS 6 biventricular circulation Circulation 2006;113:

32 Possibility of AVOIDING HLHS 87 procedures Success 72 cases Failure 15 cases (17%) 8 deaths related to procedure 1 TOG 61 NB 3 not born 12 Nb 33 HLHS 28 biventricular 37% 11 HLHS 1 biventricular Fetal mortality <10% Children s Hospital Boston. Updates in pediatric cardiology march/2011

33 Conclusions This is a common cardiopathy in fetal cardiology The suspicion diagnosis is simple but performing an accurate diagnosis with an individualized prognosis requires a specialized study

34 Conclusions Survival rates for this pathology have changed radically over the last ten years Initial mortality rates in most centers with experience is lower than 30%

35 Conclusiones Long term prognosis is uncertain These patients are at risk of alterations in neurodevelopment Most survivors lead a normal life with an average developmental rate

36 Conclusiones Procedure results and long term evolution are decisive in prenatal counselling When the pathology is severe and therapeutic options are poor parents demand the professional s personal opinion

37 Conclusions Why is HLHS different to other congenital cardiopathies? Requires complex neonatal correction Patients at risk of neurological development alterations Other cardiopathies with similar mid term prognosis exist Other pathologies with similar surgical risks exist MALA PERCEPCION POR PARTE DE LOS PROFESIONALES Survey Doctors (neonatologists, cardiologistsand surgeons), Centers (low, medium and high volume) Analysis of the perception of surgery results by different professionals and the repercussion on information

38 Conclusions Residents and nurses Centers with volume: high, medium and low Questionaire: demographics, personal opinion on results of treatment of HLHS, attitude to a hypothetical case of HLHS In the case of a prenatal HLHS diagnosisl 43% of residents and 50% of nurses would opt for termination Factors associated with the decision to terminate pregnancy: having other children, having more professional experience and working in a low volume center. The perception of survival and quality of life is fundamental when deciding whether to continue pregnancy or deciding on surgical treatment and is related to the volume and results of the center. In the case of post natal diagnosis 48% of residents and 68% of nurses would seriously consider compassive treatment Factors associated with the decision for compassive treatment: being an intensive care nurse, more years of experiencea The belief that survival at 5 years was < 50% and quality of life at 5 years being worse was more common among intensive care nurses and from lower volume centers

39 Thank you!!