Most common fetal cardiac anomalies

Transcription

1 Most common fetal cardiac anomalies

2 Common congenital heart defects CHD % of cardiac defects Chromosomal Infants Fetuses anomaly (%) 22q11 deletion (%) VSD 30 5~10 20~40 10 PS 9 5 (PA w/ VSD) HLHS 7~ CoA (IAA) TOF 3.5~7 > ~15 c-tga 5~8 5.5 <1 <1 AVSD 5 ~18 40~60 (ASD)

3 Contents 1. Ventricular Septal Defects (VSD) 2. Atrioventricular Septal Defects (AVSD) 3. Pulmonary stenosis (PS) 4. Tetralogy of Fallot (TOF) - perimembranous subaortic VSD - infundibular (infravalvular) PS

4 Ventricular Septal Defects (VSD)

5 Ventricular Septal Defects (VSD) Inlet VSD: In apical 4CV, posterior to TV Muscular VSD: In apical or subcostal 4CV Perimembranous VSD: In 5CV, beneath AV Outlet VSD: In short axis view of great vessels, beneath PV

6 PM VSD [ 5CV ] - more than one plane Anechoic area in IVS Below AV level above: overlapping MPA Color Doppler: bidirectional shunting (inconsistent) L-to-R shunting in systole R-to-L shunting in diastole

7 Inlet VSD [ Apical 4CV] Echogenic borders of VSD Color Doppler: shunting DDx: Echo dropout, Color overlapping, AVSD

8 Muscular VSD [ 4CV: apical or subcostal ] Large: >2-3 mm Echogenic borders of VSD Small at the apex: not visible in gray scale Color Doppler: bidirectional flow

9 DDx Echo dropout : Apical 4CV High color gain: color overlapping over septum Shunting in VSD: low-velocity passive flow

10 VSD: 4CV (subcostal & apical/basal) & 5CV w/ color Doppler

11 Atrioventricular Septal Defects (AVSD) Endocardial cushion defect, AV canal defect Best detected in apical 4CV

12 Atrioventricular Septal Defects (AVSD) Endocardial cushion defect, AV canal defect Complete AVSD (97%) : Primum ASD + VSD + common AV valve (linear AV valve) Incomplete AVSD : Primum ASD + cleft in MV and/or TV = Ostium primum ASD (Primum ASD w/o large VSD) - Mitral annulus displaced apically: linear AV valve insertion (+)

13 AVSD In diastole, wide opening within center Color Doppler: single channel of blood In systole, linear common AV valve

14 AVSD In diastole, small AVSD : difficult to detect In systole, linear common AV valve Color Doppler: common valve regurgitation DDx: Inlet VSD (AV valve level), LSVC (dilated coronary sinus: Doppler)

15 DDx L R LA L Apical insertion of TV Color Doppler: shunt RA RV R LV cctga w/ VSD

16 Major cardiac defects according to NT Increased NT, TR & abnormal DV flow during 1 st trimester Chromosomal defects (high incidence of AVSD, TOF) Major cardiac defects (AVSD, TOF) with normal karyotype - impairment in cardiac function * Manifested only during 1 st trimester fetal heart compliance: low & cardiac afterload: high (placental resistance)

17 AVSD: Increased NT & Aneuploidy (T18) [12w3d] NT (4.77 mm), NB (-)

18 AVSD: Increased NT & Aneuploidy (T18) [12w3d] 4CV: R/O AVSD

19 [12w3d] 4CV: R/O AVSD defect in the center

20 AVSD: Increased NT & Aneuploidy (T18) [12w3d] TR (-) (TR:>60 cm/s, >50% of the systole)

21 AVSD: Increased NT & Aneuploidy (T18) [12w3d] DV: reversed a wave CVS: 47,XX,+18

22 AVSD: Increased NT & Euploidy [12w5d] Increased NT (5.3mm), NB (+) CVS: 46,XY

23 AVSD: Increased NT & Euploidy [15w2d] R/O AVSD CVS 검체 : 22q11 deletion (-)

24 AVSD: Increased NT & Euploidy LV RV LA RA [20w5d] 4CV: R/O complete AVSD (unbalanced)

25 AVSD: Increased NT & Euploidy [20w5d] Arch view: R/O ctga or DORV w/ subpul VSD

26 Valvular PS (m/c) Pulmonary Stenosis (PS) Obstruction of RVOT fusion of valve commissures or dysplastic PV post-stenotic MPA dilatation variable - profound dilatation in mild cases RV variable (dilatation ~ hypoplasia) - pressure-induced hypertrophy - shunts in fetal circulation: FO, DA often a/w TR: RA dilatation Infravalvular (infundibular) PS: part of TOF Supravalvular PS: rare

27 PS [34w6d] Hypertrophic RV wall, Small RV lumen, Post-stenotic dilatation

28 TR, Antegrade flow across PV PS [34w6d]

29 [ DA flow ] Retrograde flow a/w PA development PS [34w6d]

30 PS [20w1d] R L Heart axis: 90 ; Cardiomegaly: HC/TC = 0.74; RA dilatation

31 PS [20w1d] LV RV RA RA dilatation; TR: holosystolic

32 PS [20w1d] Ao RV RVOT Thickened PV; Hypoplasia of pulmonary trunk

33 PSV across PV: high-flow velocity (150 cm/s) PS [20w1d]

34 PS [20w1d] PAIVS [23w6d] RA LA LV RV Cardiomegaly: HC/TC = 0.83 ( 0.74); RA dilatation ; TR

35 PS [20w1d] PAIVS [23w6d] Ao MPA RV PAIVS: retrograde flow from DA to MPA

36 Tetralogy of Fallot (TOF), classic form Subaortic malaligned VSD: perimembranous (m/c) Overriding dilated aortic root (>50% overlies LV) Infravalvular (infundibular) PS - hypoplasia of pulmonary trunk (almost always) - MPA/AAo 0.5~0.8: mild to moderate PS - MPA/AAo <0.5: severe PS - PS may progress to PA RV hypertrophy : typically not present prenatally : shunts in fetal circulation (FO, DA, VSD: R-to-L)

37 Increased NT (3.51mm), NB (+) CVS: 46,XX TOF [11w2d]

38 TOF [15w2d] LV RV AAo 5CV: overriding Ao R/O TOF CVS 검체 : 22q11 deletion (-)

39 TOF [15w2d] RV LV Arch view: overriding Ao R/O TOF

40 TOF [22w5d] LV RV LA RA 4CV: Axis - leftward deviation

41 TOF [22w5d] LV AAo RV 5CV: subao VSD, overriding Ao

42 5CV: subao VSD, overriding Ao TOF [22w5d]

43 TOF [22w5d] Rt AAo MPA Lt 3VV: AAo dilated, Rt anterior deviation; MPA-narrow but patent

44 TOF [22w5d] MPA AAo OT: MPA/AAo=0.30/0.52=0.58 R/O PS

45 SubAo VSD, overriding Ao TOF [28w3d]

46 R/O PS: MPA/Ao=0.37/0.72=0.51 ( 0.58) TOF [28w3d]

47 PS: turbulent antegrade flow w/ color aliasing TOF [28w3d]

48 PS: PSV = 128 cm/s (>90 cm/s at 28wks) TOF [28w3d]

49 Take home message Ventricular Septal Defects (VSD) - 4CV (subcostal & apical/basal) & 5CV - with color Doppler - chromosomal abnormalities: 20~40% Atrioventricular Septal Defects (AVSD) - apical 4CV - common AV valve: linear AV valve insertion - chromosomal abnormalities: 40~60%

50 Take home message Pulmonary stenosis (PS) - Valve leaflets: visible throughout systole & diastole - CD: turbulent antegrade flow with color aliasing - PD: high-flow velocity (> 80~100 cm/s) Tetralogy of Fallot (TOF) - 5CV: perimembranous subaortic VSD, overriding Ao - 3VV: AAo dilated, right anterior deviation - 3VV w/ CD: MPA narrow but patent (MPA/AAo: <0.8)

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