DARIO PALADINI

(1)

Fetal Medicine & Cardiology Unit Federico II University Hospital - Naples, Italy

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

 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)

Outflow Tracts’ Anomalies

(2)

Embriology - looping

Embriology

(3)

Embriology

 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)

Conotruncal Anomalies

(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

(5)

 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

Overriding Aorta - Definition

Left outflow – Septo-aortic continuity Normal vs abnormal

Normal outflow Outlet VSD (perimembranous)

Malalignment VSD

+ overriding aorta

(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

(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)

(8)

 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. 2

 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)

Overriding Aorta + Malalignment VSD

Hints for Differential Diagnosis. 3

(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

(10)

I

Common Arterial Trunk - Anatomy

II III

 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

Overriding Aorta + Malalignment VSD

Hints for Differential Diagnosis. 5

(11)

Fallot Tetralogy - Variants

Moderate stenosis Pulm.Atresia + VSD Absent Pulm.Valve

Tetralogy of Fallot – “classic”

The pulmonary outflow obstruction in TOF

is progressive

(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

(13)

 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

Our series - TOF & variants – Associations

1994-2005 - 63 cases

TOF PAVSD AbsPVS

 Aneuploidy 15-30% 25-40% 25%*

 22q11 microdel. 6-20% 20-30% 25-40%*

 EC Anomalies 10-30% 10-20% 45%*

TOF & variants – Associations

* Volpe P, Paladini D, Marasini M, et al. Characteristics, associations and outcome of absent pulmonary valve syndrome in the fetus.

Ultrasound Obstet Gynecol, 2005

> 80%

(14)

 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%

1994-2004 - 70 cases

DORV – US findings & diagnosis

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

(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

30%

31%

18%

7% 5%

9%

TOF DORV TA TGA PAVSD cTGA

Paladini D et al. Prenatal diagnosis of congenital heart disease in the Naples area during years 1994-99 – The experience of a joint fetal-pediatric cardiology unit. Prenatal Diagnosis, 2002

TGA TOF

DORV

DORV - Incidence in the fetus

(16)

 Spectrum of lesions

 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

DORV – Anatomy

RV

LA Ao P

 Assessment of override

DORV – Anatomy

(17)

DORV – Greyscale diagnosis. 1

1. AV anatomy

• Normal

• SV

2. GA arrangement

• Normal

• malposition

DORV – Greyscale diagnosis. 2

3. OT obstruction?

• Ao (COA)

• Pa (Stenosis)

• Pa (Atresia)

(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

(19)

 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%

1994-2014 - 85 cases

DORV – US findings & diagnosis

 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

DORV - Conclusions

Fetal Medicine & Surgery Unit Gasllini Children’s Hospital - Genoa

(20)

 Whenever such a conotruncal CHD is diagnosed in a fetus:

 Detailed anatomy scan

 Karyotype with G banding

 FISH analysis for the 22q11 locus

DORV Management

 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

TOF, DORV, CAT

Conclusions

(21)

 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 Management

TOF + RAA or Thymus 

PAVSD also if isolated

APVS-CAT also if isolated

AAI-B also if isolated

30%

31%

18%

7% 5%

9%

TOF DORV TA TGA PAVSD cTGA

TGA

TGA - Incidence in the fetus

Paladini D et al. Prenatal diagnosis of congenital heart disease in the Naples area during years 1994-99 – The experience of a joint fetal-pediatric cardiology unit. Prenatal Diagnosis, 2002

(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

(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!!!

(24)

Variable 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) * Detection of Transposition of the Great Arteries in Fetuses Reduces Neonatal Morbidity and Mortality.

Bonnet D, et al., Circulation , 1999

*: p < 0.01

**: p < 0.05

TGA – Neonatal Outcome vs time of diagnosis

Fetal Cardiology Unit Dept. Ob./Gyn.

Univ. Federico II Naples

(25)

Aortic St.

1 Vessel 1 Vessel No-xover

NO VSD Malall VSD +/- VSD

Long Axis LV – An Algorhythm

Normal Malall. VSD TGA

DORV

1 Vessel + Malalignment VSD

Fallot Malal. VSD

PaAtr+VSD Truncus

Long Axis LV – An Algorhythm

(26)

30%

31%

18% 7% 5%

9% TOF

DORV TA TGA PAVSD cTGA

ccTGA - Incidence in the fetus

cTGA

Paladini D et al. Prenatal diagnosis of congenital heart disease in the Naples area during years 1994-99 – 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

(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

(28)

Conotruncal Anomalies in Utero Naples Series ’94-’02: 121/799 cases

10 33 26 25

0 10 20 30 40

TOF DORV PAVSD TA TGA cTGA

Incidence of abnormal karyotype (%)

 

Paladini D et al. Conotruncal anomalies in prenatal life. Ultrasound Obstet Gynecol, 2000

 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!!!

TGA & ccTGA

Conclusions

(29)

 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)

Conotruncal anomalies - Conclusions