HYPOPLASTIC LEFT HEART SYNDROME - aymon.es · Hypoplastic left heart syndrome (HLHS) is a spectrum ... •Bayley scale of infant development II: PDI:desarrollo motor grosero y fino

HYPOPLASTIC LEFT HEART SYNDROME Diagnostic clues and

prenatal therapy

Teresa Alvarez Pediatric Cardiology Gregorio Marañón Hospital

www.cardiologiainfantilgm.net

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 1/4000-6000 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?

Hypoplastic Left Heart Syndrome

This is the cardiopathy which has changed most in diagnosis, management and results

CONTROVERSY

Prenatal diagnosis of HLHS

Prenatal diagnosis 2011

In fetal cardiology it is an easy diagnosis, relatively common and with poor therapeutic options

Repercussion of prenatal diagnosis on prevalence of congenital cardiopathies

Pediatric cardiology 2006;27:465-72. The impact of fetal echocardiography on the prevalence of liveborn congenital heart disease. I. Germanakis

• 705 cardiopathies • Increase in isolated cardiopathies • Decrease in more severe cardiopathies (HLHS) • Improvement in survival • Decrease in terminations ( lesser severe cases, more isolated 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 2008:910-915



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

• 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;24:1136-1142

Ideal objectives of prenatal counselling

Diagnostic peculiarities of prognostic importance

Difference in mortality for standard patients and patients with risk factors

1. Mitral stenosis- aortic atresia 2. Foramen ovale restriction 3. Minute ascending aorta 4. Tricuspid regurgitation 5. Ventricular dysfunction

6. Associated malformations


1. Mitral stenosis- aortic atresia


2. Foramen ovale restriction

Hypoplastic left heart syndrome with intact or highly restrictive atrial septum. A.P. Vlabos, J.E. Lock. Circulation 2004; 109:2326-2330.

- Small LA - Accelerated flow in FO - Pathological doppler in pulmonary veins - Absence of decompression veins

Poor prognosis factor





21 pts 24-34 weeks Success 19 pts Global survival 52%. 2 in utero deaths 12 required urgent postnatal intervention, 42% survival 7 Programmed stage 1, 86% survival



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. 2010 March 3(2):172–178.


3. Diminutive ascending aorta


4. Tricuspid regurgitation and ventricular dysfunction


Difference in mortality for standard patients and patients with risk factors

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

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. 2010 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


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. 2010 Oct;36(4):465-70

240 HLHS early diagnosis 162 (67.5%)standard risk and 78 (32.5%) high risk 38 (15.8%) chose termination or no neonatal surgery 185 newborns (77.1%) Norwood. procedure 155 survivors/30 deaths (survival 83.8%) Standard risk: survival 92.8% High risk: survival 56%

When faced with a HLHS prenatal diagnosis it is important to perform a complete evaluation for an accurate diagnosis. One third of cases include risk factors limiting survival but two thirds have exellent survival


Genetic anomalies Extracardiac malformations Premature <34 wks Additional cardiac findings as integral AS Tricuspid regurgition or severe ventricular dysfunction

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

45% MORTALIty 19%

SANO

MORTALIty

NORWOOD

Gregorio Marañon Hospital results

Hypoplastic left heart syndrome: evolution of different therapeutic options. An Pediatr (Barc) 2008;68(Supl 2):1-378 / pág. 136


Experience with Norwood procedure Centers with most experience report survival rates of 90% con el primer tiempo A survival rate of 80% is common

Low volume < 15 cases/year

Improving with experience Depending on risk factors


Hypoplastic left heart syndrome: outcome of different therapeutic options. An Pediatr (Barc) 2008;68(Supl 2):1-378 / pág. 136

As treatment results improve over time the rate of terminations decreases.

Fetal cardiology. G. Sharland. Semin Neonatol 2001:6:3-15



Pregnancy termination: Varies among countries and centers in the same country

http://www.eurocat-network.eu/prenatalscreeninganddiagnosis/prenataldetectionrates 2006-2009

Social and religious factors Legal limits Gestational age at diagnosis Associated malformations Chromosomopathies Treatment results


Neurological Prognosis and Quality of Life

No patients over 20 years of age Analyzed results on older patients evaluate techniques that are now out of date

Norwood Procedure Results Long Term

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%


• 88 patients with HLHS born 1998-2003 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 50-129) con 11% <70 • Score PDI medio 73 (rango 50-117) 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 2008:121:476-483.


• 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


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

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

 An early intervention in the 3rd trimester can alter outcome and

avoid secondary damage and therefore improve postnatal prognosis

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;113:1401-1405

Possibility of AVOIDING HLHS

87procedures

Success72cases Failure15cases(17%)

8deathsrelatedtoprocedure

1TOG 61NB 3notborn 12Nb

33HLHS 28biventricular37%

11HLHS 1biventricular

Fetalmortality<10%

Children’sHospitalBoston.Updatesinpediatriccardiologymarch/2011

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

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%

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

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

Conclusions

Why is HLHS different to other congenital cardiopathies?

Requires complex neonatal correction

Patients at risk of neurological development alterations

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

Other cardiopathies with similar mid term prognosis exist

Other pathologies with similar surgical risks exist

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.

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

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.

Thank you!!

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HYPOPLASTIC LEFT HEART SYNDROME - aymon.es · Hypoplastic left heart syndrome (HLHS) is a spectrum ... •Bayley scale of infant development II: PDI:desarrollo motor grosero y fino