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congenital

 heart  disease

           general  concepts            right  to  leW  shunts


defini&on.  general  term  used  to  describe  abnormali3es  of  heart  or  great  vessels  from  birth.    most  disorders  arise  from general.  cause  cyanosis  early  in  life
faulty  embryogenesis  during  gesta&onal  weeks  3-­‐8  when  major  C V  structures  form/  develop.  most  severe  abnorm
=  s3ll  births.  about  1/2  of  all  congen3al  CV  malforma3ons  are  diagnosed  w/in  first  year  of  life,  more  mild  forms tetrology  of  fallot.
like  ASD  may  not  be  found  un3l  adulthood. ::  general.  four  cardinal  features:  VSD,  obstruc3on  of  right  vent.  ouelow  tract  [subpulmonary  stenosis],  aorta  
that  overrides  the  VSD,  r ight  ventricular  hypertrophy.    all  result  from  a nterosuperior  displacement  of  the  
incidence.    about  1%-­‐  among  the  most  common  form  of  heart  disease  among  children.  12  disorders  =  about  85%  of   infundibular  septum.
cases:  VSD  [42%  of  congenital  heart  defects]  ASD  [10%],  pulmonary  stenosis  [8],  patent  ductus  arteriosus  [  7%] ::  clinical  features.  depend  largely  on  level  of  s ubpulmonary  stenosis  =determines
tetrology  of  fallot  [5%],  coarcta&on  of  the  aorta  [5%],  AV  septal  defect  [4%],transposi&on  of  great  arteries  [4%]   direc3on  of  blood  flow.
truncus  arteriosis  [1%] “pink”   =  mild.  looks  like  isolated  VSD  and  shunt  is  leW  to  right.
“blue”=  severe  obstruc3on.  greater  R  to  right  vent.  ouelow.  right  side
important  forces  on  heart  development.  genes-­‐  Wnt,  VEGF,  bone  m orphogenic  factor,  TGF-­‐  beta,  fibroblast  growth pressures  approach  leW-­‐sided  right  to  leW  shun3ng  develops
factor,  Notch.    early  hemodynamics.  micro-­‐RNA  [regula3on  of  genes] =  cyanosis.”classic  TOF”.
e&ology/pathogenesis.  many  genes  are  autosomal  dominant-­‐  par3al/complete  loss  of  TF  oWen.    also  chromosomal transposi&on  of  the  great  arteries.  aorta  comes  from  right  ventricle  and  is  anterior/right  of
trisomy  21-­‐  down  syndrome-­‐  most  common  gene3c  cause  of  cong.  heart  disease  [usually  affec3ng  structures   pulmonary  artery  which  comes  from  leW  ventricle.  AV  connec3ons-­‐  normal.  result
derived  from  the  endocardial  cushions    [AV  septa  +  valves].  most  mechanisms  s3ll  largely  not  understood.  =  separa3on  of  the  systemic  and  pulmonary  c ircula3ons=  condi3on  incompa3ble
w/  post-­‐natal  life  unless  shunt  exists  for  adequate  mixing  of  blood.  n eed  surgery  early.
clinical  features.
shunts.  abnormal  communica3on  between  chambers  or  blood  vessels  =permit  flow  of  blood  down  pressure
gradients  from  the  leW  [systemic]  side  to  the  right  [pulmonary]  side,  or  vice  versa
::  right  to  leC.   hypoxemia  and  cyanosis  from  poorly  oxygenated  blood  going  into  the  systemic  circula3on.  other persistent  truncus  arteriosus.  from  developmental  failure  of  separa3on  of  truncus  arteriosus  into  aorta  and  pulm
     problems-­‐  emboli  from  peripheral  veins  bypass  lungs  into  systemic  circ.,  long-­‐term  cyanosis  =  clubbing  + arteries.    =  single  great  artery  that  receives  b lood  from  both  ventricles  and  gives  rise  to  the  systemic,  pulm.
     p olycythemia.        **  t etrology  o f  fallot,  transposi&on,  persistent  truncus  arteriosis and  coronary  circula3ons.    cyanosis  and  increased  pulmonary  blood  flow  [danger  of  irrev.  pulmonary  HTN]
::  leC  to  right.   increase  pulmonary  blood  flow  and  are  not  ini3ally  associated  w/  cyanosis.  raise  both  flow   tricuspid  atresia.  complete  occlusion  of  the  tricuspid  valve.    e mbryological  unequal  divsion  of  the  AV  canal
volumes  +  pressures  →  right  vent  hypertrophy  and  atherosclerosis  of  pulmonary  vasculature.  as  pulm.  v asc. so  m itral  valve  is  l arger/underdev  of  right  ventricle.    cyanosis,  early  mortality
resistance  levels  approach  systemic  levels  =  new  right  to  leW  shunt  that  introduces  unoxygenated  blood  into
the  systemic  circula3on.  if  irrev.  pulmonary  HTN  develops  =  irreparable=  early  tx.  **  ASD,  VSD,  patent  ductus
arteriosus.
                   obstruc3ve  congenital  anomalies
stenosis.  coarcta&on,  aor&c  valvular  stenosis/pulm  valve  stenosis  =  obstruc3ve.  complete  =  atresia

other  outcomes.  altered  h emodynamics  usually  =  cardiac  dila3on  or  hypertrophy  or  both.    can  also  =  h ypoplasia coarcta&on  of  the  aorta.  coarcta3on  =  narrowing/constric3ng.  this  is  a  fairly  common  problem.  males  2X  more.
or  atrophy. or  females  w/  turner  syndrome.    can  be  varying  degrees  of  narrowing.  oWen  +  bicuspid  aor3c  valve,  ASD,  VSD
mitral  regurg.  clinical  manifesta3ons  depend  on  severity  of  narrowing  and  presence  of  patent  ductus
arteriosus=  much  worse  outcome=  cyanosis  of  lower  half  of  body.  w/out=  k ids  can  be  asymptoma3c,  can  go
unrecognized  un3l  adult  life.  some  hypotension  in  Lower  extremi3es.
::  cardiomegaly  from  l eC  vent.  pressure  overload  hypertrophy.  surgery  works  well.
             leW  to  right  shunt
pulmonary  stenosis/atresia.   obstruc3on  at  the  pulmonary  valve.  right  vent  hypertrophy  some3mes  dial3on  of  the
ASD pulmonary  artery  from  jedng  blood.    can  be  m ild/asymp  o r  symp/require  s urgery.
::  general-­‐   abnormal  fixed  opening  in  atrial  septum  =  incomplete  3ssue  forma3on.  usually  asymp  u n3l  adulthood
flow  based  on  pressure  gradient.  pulm  b lood  flow  =  2-­‐4X  normal.  murmur  common  because  of  ↑  flow  through aor&c  stenosis/atresia.  can  happen  at  valvular,  subvalvular  a nd  supravalvular.
pulmonic  v alve.  surgical  closure  prevents  complica3ons  [  heart  failure,  emboli,  irrev.  p ulm  vascular  disease] ::valvular.  cusps  are  small,  w ierd  s haped,  abnormal  number.
despite  right  sided  volume  overload-­‐  handled  well,  not  no3ced  un3l  adulthood. ::subvalvular.  thick  ring  below  the  cusps=  prominent  systolic  murmur/thrill.  pressure  hypertrophy  of  LV  from
::  patent  foramen  ovale.  dis3nguished  from  above  because  foramen  ovale  is  flap  of  3ssue  that  is  usually  kept obstruc3on  to  blood  flow.  only  most  severe  is  harmful
   closed  in  adulthood  because  of  pressure  gradient.    in  20%  of  people  unsealed  flap  can  open  if  more  pressure  on ::  supravalvular.   ascending  aor3c  wall  is  thick  =  luminal  constric3on.
   rt.  side  of  heart  =  sustained  pulmonary  HTN  or  even  transient  increases  in  Rt  sided  pressures  [cough3ng,  pooping,
   sneezing]  can  =  brief  periods  of  rt  to  leW  shun3ng.
VSD
::  general.  incomplete  closure  of  vent.  septum  =  most  common  form  of  congenital  cardiac  weirdness.    most  VSD’s
       a ssoc.  w/  other  anomalies  [ tetrology  o f  fallot].    consequences  depend  on  size  and  other  problems.  can  be
       large/no3ced  early  or  small/no3ced  later.  spontaneous  closure  is  hoped  for-­‐  if  not-­‐  surgery  is  recommended,
       a gain-­‐  to  prevent  irrev.  obstruc3ve  pulmonary  vascular  disease.

patent  ductus  arteriosus.  fetal  circula3on=  shunts  blood  from  the  pulm.  artery  →   to  the  aorta   to  bypass  lungs.
some3mes  remains  open  aWer  birth.    harsh  murmur.  usually  a symp  at  birth.  at  first  leW-­‐to-­‐right,  eventually
added  volume/pressure  overload  =  obstruc3ve  changes/reversal  of  flow  etc...  best  to  close  as  soon  as  possible.

AV  septal  defect.  from  failure  of  superior  and  inferior  e ndocardial  cushions  of  the  AV  canal  to  fuse  correctly.  
=  incomplete  closure  of  the  AV  septum/malforma3on  of  tricuspid  and  mitral  valves.  all  four  chambers  communicate
freely=  volume  hypertrophy  of  all.  1/3  w/  AVSD  have  Down’s  as  well.
congenital  heart  disease

                     neoplasms  of  the  heart


leW  to  right  shunts
general.  primary  tumors  of  heart  are  rare.  but  m etasteses  i n  the  heart  happen  in  about  5%  of  people  dying  of  CA.
the  five  most  common  primary  tumors  are  benign.

myxoma.  most  common  primary  tumor  of  the  heart  in  adults.  benign.  associated  w /  clonal  abnormali3es  of  chromos
12  and  17.    usually  on  atria-­‐  leW  to  right  ra3o  =  4:1.  will  see  ‘ball-­‐valve”  obstruc3on
emboliza3on  or  fever/malaise.  surgical  removal  works,but  tumor  will  usually  return.

rhabdomyoma.  most  common  primary  tumor  of  heart  in  children  and  infants.  found
early  because  of  obstruc3on  of  a  valvular  o rifice  or  cardiac  chamber.  oWen  associated
w/  tuberous  sclerosis  =  defects  in  tumor  suppressor  genes  =  m yocyte  overgrowth.
oWen  regress  spontaneously.

angiosarcomas.  happen.

right  to  leW  shunts