outflow tracts’ anomalies - türkiye maternal fetal tıp...

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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 [email protected]



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

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Embriology - looping



Embriology

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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

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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

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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

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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

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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)

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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:





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)



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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

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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



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Fallot Tetralogy - Variants

Moderate stenosis Pulm.Atresia + VSD Absent Pulm.Valve

Tetralogy of Fallot – “classic”

The pulmonary outflow

obstruction in TOF

is progressive

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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

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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%

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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

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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

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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

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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)

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DORV – Color Doppler Diagnosis

1. Confirm DORV • vs TGA

• (vs TOF)

DORV – Color Doppler Diagnosis

2. Detect OT

obstruction • Pa (Stenosis)

• Pa (Atresia)

• Coarctation

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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

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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

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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


1994-99 – The experience of a joint fetal-pediatric cardiology unit. Prenatal Diagnosis, 2002

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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

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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!!!

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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

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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

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30%

31%

18% 7% 5%

9%TOF

DORV

TA

TGA

PAVSD

cTGA

ccTGA - Incidence in the fetus

cTGA


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

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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

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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

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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

outflow tracts’ anomalies - türkiye maternal fetal tıp...

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