Outflow Tracts Anomalies

Transcription

1 Diagnosis of Outflow Tract Anomalies in the Fetus General Framing D.Paladini Fetal Medicine & Surgery Unit Gasllini Children s Hospital - Genoa dariopaladini@ospedale-gaslini.ge.it Outflow Tracts Anomalies Malalignement VSD Tetralogy of Fallot (TOF) Pulmonary Atresia + VSD (PAVSD) Common Arterial Trunk (CAT) Double Outlet Right Ventricle (DORV) Complete Transposition of GA (TGA) [Corrected Transposition of GA (ctga)] Critical aortic stenosis Critical pulmonary stenosis Pulmonary atresia + intact ventricular septum (PAIVS) Pag. 1

2 Embriology - looping Embriology Pag. 2

3 Embriology Conotruncal Anomalies All anomalies affecting the splitting mechanism of the Bulbus Cordis (or Conus) are called Conotruncal Anomalies, and, as such these share: a perfectly normal 4-chamber view (in most instances) Pag. 3

4 Axial views of the thorax 2D Categorization of OT abnormalities Abnormal septo-aortic continuity (malalign. VSD) TOF, PAVSD, APVS, CAT, DORV Abnormal crossover (parallel vessels +/- VSD) TGA, DORV, (ctga) Abnormal (obstructed) semilumar valve Critical aortic/pulmonary stenosis, PAIVS Pag. 4

5 Overriding Aorta - Definition Overriding may be defined as a biventricular origin of a semilunar valve It is a property of the valve annulus It is ALWAYS associated with a malalignment VSD Left outflow Septo-aortic continuity Normal vs abnormal Normal outflow Outlet VSD (perimembranous) Malalignment VSD + overriding aorta Pag. 5

6 Abnormality of the septo-aortic junction Outlet VSD vs Malalignment VSD Left Outflow Challenges sometimes the VSD is missed or hidden, and the Pa-Ao disproportion is the most striking feature Pag. 6

7 Overriding Aorta + Malalignment VSD Hints for Differential Diagnosis. 1 Is the overriding vessel the aorta? If not (PA), consider: DORV TGA Double Outlet Right Ventricle (DORV) Pag. 7

8 Overriding Aorta + Malalignment VSD Hints for Differential Diagnosis. 2 Is the aortic root particularly wide? If yes, consider: CAT (common arterial trunk) PAVSD (pulmonary atresia + VSD) all the blood passes through the LV-Ao: Overriding Aorta + Malalignment VSD Hints for Differential Diagnosis. 3 Is the aortic valve dysplastic? If yes, consider: CAT (common arterial trunk) always dysplastic valve from non-separation of Pa and Ao valves cusps (up to 6 cusps) Pag. 8

9 Common Arterial Trunk Anatomy Collett & Edwards 1949 TYPE I Pulm. Trunk directly from the Truncus TYPE II Pulm. branches from the Truncus, close to the valve TYPE III Pulm. branches from the Truncus, more distally TYPE IV - (PAVSD) Common Arterial Trunk - Anatomy Pag. 9

10 Common Arterial Trunk - Anatomy I II III Overriding Aorta + Malalignment VSD Hints for Differential Diagnosis. 5 Are the Pulmonary trunk and branches v.large? If yes, consider: TOF+APVS (Tetralogy of Fallot with absent pulmonary valve) Dilatation caused by severe stenosis and insufficiency Pag. 10

11 Fallot Tetralogy - Variants Moderate stenosis Pulm.Atresia + VSD Absent Pulm.Valve Tetralogy of Fallot classic The pulmonary outflow obstruction in TOF is progressive Pag. 11

12 Fallot Tetralogy - Variants Moderate stenosis Pulm.Atresia + VSD Absent Pulm.Valve TOF variant Absent pulmonary valve S. Increased cardiac axis & cardiomegaly Malalignment VSD & Overriding aorta Severe pulmonary trunk & branches dilatation Severe steno-insufficiency on CD Pag. 12

13 Our series - TOF & variants Associations cases Aneuploidy 13 (21%) Abn K 6 T.21, 4 T.18, 2 tripl**, 1 T.13* 22q11 del 5 (8%), 2 APVS, 3 with RAA+Thymus- EC Anomalies 27% ECA DW (4), exomphalos (2), esophageal atresia (2), talipes (2), NTD, ACC, hydrocephaly, ambiguous genitalia TOF & variants Associations TOF PAVSD AbsPVS Aneuploidy 15-30% 25-40% 25%* 22q11 microdel. > 6-20% 80% 20-30% 25-40%* EC Anomalies 10-30% 10-20% 45%* *Volpe P, Paladini D, Marasini M, et al. Characteristics, associations and outcome of absent pulmonary valve syndrome in the fetus. Ultrasound Obstet Gynecol, 2005 Pag. 13

14 DORV US findings & diagnosis cases Ass. Cardiac defects 49% Cardiosplenic s. 15.7% (11 cases) HLV 14.2% (10 cases) AVSD 11.4% ( 8 cases) AAI/coarct/RAA 4.3%( 3 cases) Aneuploidy (3 T21, 3 T13, 3 T18, 1 tripl., 1 unbal.trasl.) overall 15.7% Excluding CSS 26.8% EC Anomalies 23% Truncus Arteriosus & abn.karyo A Multicenter Series - Naples, Bari & Genoa Abnormal Karyotype 2/23 (8.7%) 22q11 Microdeletion 6/19 (31%) ECA 10/23 (43%) Survival Rate 9/23 (39%) Volpe P, Paladini D, Russo MG et al. Common Truncus Arteriosus in the fetus: characteristics associations and outcome. Heart, 2003 Pag. 14

15 Categorization of OT abnormalities Abnormal septo-aortic continuity (malalign. VSD) TOF, PAVSD, APVS, CAT, DORV Abnormal crossover (parallel vessels +/- VSD) TGA, DORV, (ctga) Abnormal (obstructed) semilumar valve Critical aortic/pulmonary stenosis, PAIVS DORV - Incidence in the fetus 7% 5% 30% 18% 9% TGA DORV TOF TOF DORV TA TGA PAVSD ctga 31% Paladini D et al. Prenatal diagnosis of congenital heart disease in the Naples area during years The experience of a joint fetal-pediatric cardiology unit. Prenatal Diagnosis, 2002 Pag. 15

16 Spectrum of lesions DORV Anatomy VSD (IV comm.) in 100% Double right VA conn. Malposition of GA in most (?) fetal cases Associated anomalies in 50% RVOT obstruction AVSD +/- ventr.hypopl. Single ventricle Rt or Lt Isomerism RV Ao P LA DORV Anatomy Assessment of override Pag. 16

17 DORV Greyscale diagnosis AV anatomy Normal SV 2. GA arrangement Normal malposition DORV Greyscale diagnosis OT obstruction? Ao (COA) Pa (Stenosis) Pa (Atresia) Pag. 17

18 DORV Color Doppler Diagnosis 1. Confirm DORV vs TGA (vs TOF) DORV Color Doppler Diagnosis 2. Detect OT obstruction Pa (Stenosis) Pa (Atresia) Coarctation Pag. 18

19 DORV US findings & diagnosis cases Ass. Cardiac defects 49% Cardiosplenic s. 15.5% HLV 14.2% AVSD 11.4% AAI/coarct/RAA 4.3% Aneuploidy (3 T21, 3 T13, 3 T18, 1 tripl., 1 unbal.trasl.) overall 15.7% Excluding CSS 26.8% EC Anomalies 23% DORV - Conclusions DORV & variants can be diagnosed in utero DORV can be associated with AVSD, atresias, cardiosplenic syndromes in up to 49% of cases The aneuploidy & ECA risks is very high (> 20%) The 22q11 risk is relatively lower for DORV, unless it is associated with RAA Fetal Medicine & Surgery Unit Gasllini Children s Hospital - Genoa Pag. 19

20 DORV Management Whenever such a conotruncal CHD is diagnosed in a fetus: Detailed anatomy scan Karyotype with G banding FISH analysis for the 22q11 locus TOF, DORV, CAT Conclusions TOF, DORV & CAT can be diagnosed in utero DORV can be associated with AVSD, atresias, cardiosplenic syndromes in up to 49% of cases The aneuploidy & ECA risks are very high for all CHD (> 20%) The 22q11 risk is very high for PAVSD, CAT and APVS and/or in all CHD if associated with Right Aortic Arch lower for DORV Pag. 20

21 TOF, DORV, CAT Management Whenever such a conotruncal CHD is diagnosed in a fetus: Detailed anatomy scan Karyotype with G banding FISH analysis for the 22q11 locus TOF + RAA or Thymus PAVSD also if isolated APVS-CAT also if isolated AAI-B also if isolated TGA - Incidence in the fetus 7% 5% 30% 18% TGA 9% 31% TOF DORV TA TGA PAVSD ctga Paladini D et al. Prenatal diagnosis of congenital heart disease in the Naples area during years The experience of a joint fetal-pediatric cardiology unit. Prenatal Diagnosis, 2002 Pag. 21

22 Transposition of the Great Arteries Anatomy TGA Normal 4-chamber view (atrio-ventricular concordance) Ventriculo-arterial discordance (absence of crossover) Parallel vessels Pa Stenosis and/or VSD possibly associated Complete Transposition GA - classic The 4 chamber view is unremarkable Pag. 22

23 Transposition of the Great Arteries Anatomy TGA Normal 4-chamber view Absence of crossover Complete TGA Restrictive FOV In case of restrictive FOV, some authors advice to have the Hemodynamist in the Delivery Room!!! Pag. 23

24 TGA Neonatal Outcome vs time of diagnosis Detection of Transposition of the Great Arteries in Fetuses Reduces Neonatal Morbidity and Mortality. Variable Bonnet D, et al., Circulation, 1999 Prenatal Group Postnatal Group 57 cases 204 cases Mechanical Ventilation 38% 17.6%* Pre-Op. Mortality (%) 0 6.0%** Post-Op. Mortality (%) 0 7.0%* Hospital Stay (dd) 24 (+/- 11) 30 (+/-17) * *: p < 0.01 **: p < 0.05 Fetal Cardiology Unit Dept. Ob./Gyn. Univ. Federico II Naples Pag. 24

25 Long Axis LV An Algorhythm 1 Vessel 1 Vessel No-xover NO VSD Malall VSD +/- VSD Normal Malall. VSD TGA Aortic St. DORV Long Axis LV An Algorhythm 1 Vessel + Malalignment VSD Malal. VSD Fallot PaAtr+VSD Truncus Pag. 25

26 cctga - Incidence in the fetus 18% 7% 5% ctga 9% TOF DORV TA TGA PAVSD 30% ctga 31% Paladini D et al. Prenatal diagnosis of congenital heart disease in the Naples area during years The experience of a joint fetal-pediatric cardiology unit. Prenatal Diagnosis, 2002 Congenitally corrected TGA cctga Atrio-ventricular + ventriculo-arterial discordance (double discordance) The double discordance hemody_ namically corrects the circle Several anomalies associated in most instances TV Ebstein-like VSD Pag. 26

27 Corrected Transposition GA - classic A-V discordance, with mrv on the left TV on the left, MV on the right Congenitally corrected TGA Paladini D, Volpe P. Diagnosis, characterization and outcome of congenitally corrected transposition of the great arteries in the fetus: a multicenter series of 30 cases. Ultraosound Obstet. Gynecol., 2006 Pag. 27

28 Conotruncal Anomalies in Utero Naples Series 94-02: 121/799 cases ctga TGA TA PAVSD DORV TOF Incidence of abnormal karyotype (%) Paladini D et al. Conotruncal anomalies in prenatal life. Ultrasound Obstet Gynecol, 2000 TGA & cctga Conclusions TGA & cctga can be diagnosed in utero cctga can be associated with other cardiac anomalies in up to 80% of cases The aneuploidy & ECA risks are virtually absent for both CHD (minor renal anomalies in cctga) For TGA, overall survival improves by 13% in case of prenatal vs post-natal diagnosis!!! Pag. 28

29 Conotruncal anomalies - Conclusions CHD sharing an overriding aorta + malalignment VSD are CAT, PAVSD, TOF, APVS CHD featuring absent crossover are TGA & DORV CHD at risk of microdeletion 22q11 & chromosomal aberrations are CAT, PAVSD, TOF, APVS CHD protecting from aneuploidies are TGA, ctga (& cardiosplenic syndromes) Pag. 29