CASE DISCUSSION 3 Law KM_OG... · 2018. 11. 8. · • Sudden IUFD at 38+ weeks • Placental...
Transcript of CASE DISCUSSION 3 Law KM_OG... · 2018. 11. 8. · • Sudden IUFD at 38+ weeks • Placental...
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CASE DISCUSSION Dr. KM Law Fetal Medicine, O&G, CUHK
Fetal Echocardiography
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Case 1
Referred to us for discrepancy in size between the 2
outflow tracts of the fetus with a smaller aorta at 21
weeks
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• Isolated – no haemodynamic consequences
• Most reported cases – associated with cardiac or
extracardiac anomalies
– Truncus arteriosus, TOF, DORV, TGA; IAA, transverse
AA hypoplasia with or w/o CoA, RAA/DAA; VSD, ASD
– Chromosomal anomalies (T18)
– Genetic syndromes: 22q11.2 microdeletion, Noonan,
Holt Oram
– VACTERL
Crossed PAs
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Interrupted Aortic Arch
Type A: Distal to the LSA
Type B: Between LCCA & LSA
Type C: Between IA & LCCA
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• Pathogenetically different from type A
– Type A: an extreme form of CoA due to abnormal flow
during embryogenesis
• Conotruncal defect
– Developmental anomaly of the branchial arch system
• Posterior displacement of infundibular septum
– Malalignment subpulmonary VSD
– Subaortic stenosis
• Arch may be left or right, SA may be aberrant
• Strong association with 22q11.2 microdeletion
Type B IAA
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Case 2
Referred to us for SUA and RAA of the fetus at 22
weeks
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Left
Right
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Left
Right
Left
Right
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Left
Right
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18
Left
Right
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Left
Right
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Left
Right
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Anomalous Left
Brachiocephalic Vein
Left
Right
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Normal LBCV
Left internal jugular vein Right internal jugular vein
Left subclavian vein Right subclavian vein
Left brachiocephalic vein
Right brachiocephalic vein
Superior vena cava
Aortic arch
Pulmonary artery Azygos vein
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Normal LBCV
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• Rare: 0.2 – 1% of patients with CHD
• Isolated: very rare
• 4 types (Takada, et al. 1992)
Anomalous LBCV
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• Not cause symptoms by itself
• High association with CHD
– RAA, pul. obstruction: TOF, TOF+PA; ASD, VSD
• Radiologists – structure confusion
– PLSVC, TAPVC asc. vein; RPA, enlarged LN
• Cardiologists – TV pacemaker insertion
• Anaesthetists – CVP line insertion
• Cardiac surgeons – operative difficulty
– surgical approach, cannulation of SVC for CP bypass
Anomalous LBCV Clinical significance
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• Not included in Takada’s classification
• Failure of normal or abnormal development of
LBCV above or below the aortic arch
• LSVC not persistent
Anomalous LBCV Retro-esophageal/tracheal
Left superior intercostal vein
Accessory hemiazygous vein
Hemiazygous vein
Azygous vein
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Anomalous LBCV Retro-esophageal/tracheal
Ming, et al., 2009
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• Very rare
• 1st reported (Yigit, et al., 2008) – 15 y boy (double LBCV): isolated
• 4 Chinese children (Ming, et al., 2009) – 4 m boy: PA VSD, RAA, PDA, ASD
– 6 m boy: VSD
– 6 d girl: PA VSD, PDA
– 6 m girl (double LBCV): VSD, PDA
• Balkman, et al. 2010 – 16 y boy: TOF
Anomalous LBCV Retro-esophageal/tracheal
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• Our case
– 1st AN case described
– With chromosomal abnormality (8p inverted
duplication/deletion syndrome)
– With other venous abnormality – double IVC
– ?Genuine association OR chance occurrence
Anomalous LBCV Retro-esophageal/tracheal
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Case 3
Normal morphology scan in China at 23 weeks; 28+
weeks: USG in China showed abnormal UA Doppler;
USG by us at 29+ weeks: normal UA PI.
Incidentally…...
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• Need to rule out Williams
syndrome (70% with
SVAS)
• Discussed for option of
amniocentesis
• Patient declined
• Sudden IUFD at 38+
weeks
• Placental biopsy after
delivery for karyotype
and aCGH
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• Least common form of LVOT obstruction
• Elastin (ELN) gene deletion/mutation – elastin
deficiency in arterial walls
• 3 anatomic forms
– Hourglass constriction at sinotubular junction (60 –
75%)
– Diffuse narrowing of a variable length of ascending
aorta (25 – 40%)
– Discrete membranous obstruction (rare): ?a variant of
the hourglass deformity
Supravalvular AS
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Supravalvular AS
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Supravalvular AS
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• Commonly associated CV anomalies
– Pulmonary artery stenosis (50%): main or branched
– Coronary artery stenosis
– Dysplastic aortic valve
– Coarctation of aorta (unusual sites) and stenosis of
carotid or other peripheral arteries
Supravalvular AS
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• Occurs in 3 settings in paediatric population
– Williams syndrome (30%)
• 1.5 – 1.8 Mb deletion at 7q11.23 including ELN gene
– Familial form with AD inheritance (20%) – ELN
mutation
– Sporadic (50%) – ELN mutation
• WS: increased risk of sudden cardiac death
– Higher in biventricular outflow tract obstruction
– Coronary artery obstruction
– Prolonged QTc interval (15% of WS; not in other types)
Supravalvular AS
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Case 4
USG at 22 weeks: early onset IUGR with UA AEDV +
mesocardia
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• 23 weeks: UA REDV,
couple opted to continue
• 27+3 weeks: UA REDV,
MCA REDV, EFW
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R L
RPA
T
LPA
RMB
MPA
AO
RPA
AD
LPA
T
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Left Pulmonary Artery Sling
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• Importance:
– Frequently associated with tracheobronchial stenosis
• Mechanical compression
• More commonly a congenital stenosis
• Mortality up to 50% if severe but prognosis improving
• Recurrent pulmonary infection
• Hyperinflated right lung
– CHD in 30% of the cases
– RPA stenosis with right pulmonary hypoplasia
• abnormal rotation of cardiac axis to the right
Left Pulmonary Artery Sling
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• PND may improve PN outcome but is rare
– Branched PAs not routinely examined
– Abnormal cardiac axis rotation may contribute to
prenatal screening and detection of LPAS
Left Pulmonary Artery Sling
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Case 5
Referred to us for suspected fetal CHD at 22 weeks
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• Pathogenesis
– PA + IVS + competent TV = no RV outlet RV HT
– RV HT forces an abnormal communication between
ventricular cavity, coronary sinusoids and coronary
arteries (VCC)
• Importance of VCC
– Disturbance of myocardial perfusion
– Affect surgical repair and prognosis
– Present in as many as 40% of PA IVS
PA IVS with VCC
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• Large unobstructed VCC coronary steal – Diastole RV pressure decreases Coronary blood
flow preferentially to RV through large VCC
– Myocardial ischaemia
– Retrograde perfusion from RV during systole
• Dilated coronary artery: tortuous + stenosis segmental obstruction – Markedly reduced antegrade perfusion
– Totally rely on retrograde perfusion from RV during systole right ventricular dependent coronary circulation (RVDCC)
PA IVS VCC Myocardial perfusion disturbance
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• Large unobstructed VCC: close VCC first
before opening up the MPA
– Diastole: coronary steal compensated by systolic
retrograde perfusion from RV
– MPA open systolic flow to MPA
• RVDCC: VCC cannot be closed
– Very little antegrade coronary perfusion
– VCC closed retrograde perfusion from RV shut off
– MPA cannot be opened
– Biventricular repair not possible
PA IVS VCC Effects on surgical repair