congential heart disease

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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