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  • Neurodevelopmental Problems and Neurodevelopmental Problems and CC

    Johanna S. Fricke, MD

    Congenital Heart DiseaseCongenital Heart Disease,

    Associate Professor of Pediatrics UNSOM

    University of Nevada School of Medicine

  • DisclosuresDisclosuresDisclosuresDisclosures

    I am addressing the issue as gdevelopmental/behavioral pediatrician, not a pediatric cardiologistI am a subspecialist in neurodevelopmental testing, treatment, and follow-upI will quote some of the literature in these areasI will emphasize basic concepts, not managementI am a promotional speaker for McNeil and

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    Novartis pharmaceutical companies

  • Brief History of Congenital Heart Disease Care

    Brief History of Congenital Heart Disease CareDisease CareDisease Care

    1st 1/3 20th century understand the pathology all patients with complex anatomy diedall patients with complex anatomy died2nd 1/3 20th century initial operative repairs most patients with complex anatomy diedmost patients with complex anatomy diedLast 1/3 20th century most patients with complex anatomy livedp y

    End of the 20th century to the early 21stcentury death is rare (1%)Now outcomes impact quality of life and long term neurodevelopmental issues

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  • Syndromes associated with CHDSyndromes associated with CHD

    >30% of infants with CHD have a genetic syndromeSome syndromes are associated with a particular cardiac lesionparticular cardiac lesionPrenatal diagnosis allows continuity of care with attention to other involved organ systemsattention to other involved organ systems.It also allows parents time to process, grieve and reorganize the family around the childs g yneedsIt allows the prenatal team and chosen pediatric

    i li t t h l t th f ilspecialists to help support the family

  • Microdeletions and DuplicationsMicrodeletions and Duplications

    Common Genomic disordersOn microarray testing about 20 % ofOn microarray testing, about 20 % of people with CHD have a copy number abnormality

    -

    abnormalitySyndrome examples: Williams Syndrome DiGeorge Syndrome (Velo

    O

    Syndrome, DiGeorge Syndrome (Velo-Cardio-Facial Syndrome), Dup 7q11.23

    5

  • Chromosome MicroArray AnalysisChromosome MicroArray Analysis

    Genotyping arrays utilize high density single nucleotide polymorphisms (SNPs) or oligonucleotides spaced along the chromosomesDetect copy number variationsAre there 2 copies (normal), 3 copies (one extra) or 1 (one missing)?

    6

  • Velocardiofacial SyndromeVelocardiofacial SyndromeShprintzen Syndrome

    Incidence/ Genetics1/20001/2000Chromosome 22q11.2 deletionOft i t d ith t l h tOften associated with conotruncal heart defects

    7

  • Down SyndromeDown SyndromeJohn Langdon Down 1866 clinical description: Observations on anJohn Langdon Down 1866 clinical description: Observations on an Ethnic Classification of Idiots

    Trisomy 21 discovered in 1959so y d sco e ed 95940-50% have heart disease, most of which require surgery

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  • Chromosome 22 DeletionChromosome 22 DeletionAngelo DiGeorge (1921- October 11 2009) endocrinologist 1960Robert Shprintzen speech pathologist 1970sde la Chapelle 1981 chromosome 22 deletion passociationAffects development, immune system,heart

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  • Ch 22 D l tiCh 22 D l tiChromosome 22 DeletionChromosome 22 Deletion

    FISH (Fluorescent in situ hybridization) autosomal dominant

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  • Ch 22 D l iCh 22 D l iChromosome 22 DeletionChromosome 22 Deletion

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  • Syndromes-SummarySyndromes-Summary

    Often associated with CHDShould be identified as early as possible -Chromosomes & FISH Chromosome 22 on

    i ti fl id lamniotic fluid sampleMicroarray (Comparative Genomic Hybridization) can be performed on infant while in nurserycan be performed on infant while in nurseryBaseline neurodevelopmental problems related to specific syndromesp yCHD, especially cyanotic, intra-operative or bypass events can magnify neurodevelopmental i ( k bl d IVH)

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    issues (e.g., stroke,bleed,IVH)

  • CHD and Neurodevelopment Intrinsically Linked With or Without an Underlying

    CHD and Neurodevelopment Intrinsically Linked With or Without an Underlying

    SyndromeSyndrome

    In utero C l d d h d dCHD can lead to impaired hemodynamics and oxygen delivery to organsI i d h d i d O2 d liImpaired hemodynamics and O2 delivery can lead to impaired brain development

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  • In UteroIn Utero

    Group at CHOP showed retrograde flow to fetal p gbrain in hypoplastic left heart (HLH) Kaltman Ultrasound Obstet Gynecol 2005; 25: 32-36

    Group at Cincinnati Childrens Hospital showed decreased head circumference growth anddecreased head circumference growth and diffuse white matter injury in fetuses with HLHHinton Pediatr Res 2008; 64: 364-369

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  • In UteroIn Utero

    Group in Columbus Ohio showed newborns with pHLH, coarctation, tetralogy of Fallot without a syndrome more commonly had microcephaly B b A J Ob t t G l 2009 201 43Barbu Am J Obstet Gynecol 2009; 201: 43

    Recommended close antenatal surveillance andRecommended close antenatal surveillance and possibly earlier delivery

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  • In UteroIn Utero

    Prenatal detection CHD

    Historically, > 2/3 not detected

    Universal fetal echocardiography first recommended by Acherman et al J Ultrasound Med 2007; 26: 1715-1719

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  • CHD and Neurodevelopment CHD and Neurodevelopment Intrinsically LinkedIntrinsically Linked

    Postnatal and preoperative

    Lack of prenatal detection of CHD can lead to serious consequences

    b h k ff lBaby presenting in shock can effect long term neurodevelopmental outcome

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    Stabilization prior to surgery

  • Postnatal and PreoperativePostnatal and Preoperative

    Lack of prenatal detection prevents prenatal delivery planningMetabolic consequences:AcidosisHypoxiaHeart failurePGE (prostoglandins) needed for PDA flow including bl d fl b iblood flow to brainStabilize sick newborn prior to a catastrophic incident

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  • CHD and Neurodevelopment CHD and Neurodevelopment Intrinsically LinkedIntrinsically Linked

    IntraoperativeIntraoperative

    Cardiopulmonary bypass is necessary for repairCardiopulmonary bypass is necessary for repair

    Cardiopulmonary bypass may be another factor in p y yp ylong term neurodevelopmental outcome

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  • Intraoperative-Cardiopulmonary Intraoperative-Cardiopulmonary BypassBypass

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  • IntraoperativeIntraoperative

    Bypass complicationsyp p

    Embolism

    Inflammation

    Bleed (IVH, other areas of brain)

    Childrens HeartChildrens Heart Center NevadaCenter NevadaRelated to duration

  • I iI iIntraoperativeIntraoperative

    Brain protective measure with bypass (?)

    Cooling

    Managing flow and perfusion

    Steroids

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    Others

  • IntraoperativeIntraoperative

    CNS Monitoring

    Transcranial doppler

    Continuous EEG

    Near infrared spectroscopy for cerebral oxygen saturation

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  • CHD and Neurodevelopment CHD and Neurodevelopment Intrinsically LinkedIntrinsically Linked

    Postoperative

    Impaired cardiopulmonary function and metabolic abnormalities can occur

    l d f d d lDelayed feeding and aversive oral experiences

    Such aberration can add to long term problems

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    Such aberration can add to long term problems

  • P t tiP t tiPostoperativePostoperative

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  • CICU DramaCICU Drama

    QuickTime and a decompressor

    are needed to see this picture.

    Samuel Jonah (my grandson)Post-op TGA

  • The only available touchpointThe only available touchpointThe only available touchpointThe only available touchpoint

    QuickTime and a decompressor

    are needed to see this picture.

    But he does have a Red SoxBut he does have a Red Sox blankie

  • P t tiP t tiPostoperativePostoperative

    Effects of narcoticsSkin-to skin contact not possibleC f lCareful Monitoring

    Acid baseOxygenationygPerfusionCardiac outputParental reaction/acceptanceParental reaction/acceptance

    ECMOPredictor of poor neurologic outcome

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  • PostoperativePostoperative

    Possibly helpfulEarly feeding (Allow mother to pump and save colostrum and breast milk)Appropriate interaction and stimulation, including parent involvementparent involvementPediatric OT/PT with parent instruction (Hypotonia is frequent)q )Explanation of and smooth transition to early intervention

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