Pentalogy of
Cantrell
By: Yvana Vasquez
For: SON2122C
Date: 01/18/2022
Understanding Pentalogy
of Cantrell
A group of rare, congenital anomalies
categorized by 5 main characteristic:
? Omphalocele
? Ectopia Cordis
? Cleft Sternum
? Anterior Diaphragmatic Defect
? Pericardial Defects
Further breakdown of the 5
main characteristics of
Pentalogy of Cantrell
?
?
?
?
?
Omphalocele
?
Protrusion of abdominal organs and/or small and large
intestines in infant?s abdomen, going through umbilical
cord, covered by a thin membrane.
?
Condition in which the heart is completely or partially
displaced outside of thoracic cavity and not protected by
chest wall
?
May present as complete absence of sternum or xiphoid.
Sternum may have a cleft or be shorter than normal
Ectopia Cordis
Cleft Sternum
Anterior Diaphragmatic Defect
?
Hole in diaphragm is present and leads to protrusion of
bowel in the thoracic cavity
?
Defects in pericardium and pericardial effusion may be
present.
Pericardial Defects
Other defects present in
Pentalogy of Cantrell
I nfa nt s p re s e nt i n g w i t h t h i s ra re co n d i t i o n ca n h av e ,
a n d u s u a l l y d o h av e , a w i d e va r i e t y o f co n g e n i t a l
h e a r t d efe c t s i n c l u d i n g b u t n o t l i m i t e d t o :
?
Ventricular Septal Defects (hole in the
heart b/w ventricles)
?
Atrial Septal Defects (hole in the
heart b/w atriums)
?
Dextrocardia (displacement of heart
in right side of the chest instead of
left)
?
Tetralogy of Fallot (condition which
four anatomical defects of the heart
occur together)
Severity of Rare Condition
?
Pentalogy of Cantrell can present with all 5 or just some of the characteristics
?
T h e m o s t s e v e r e c a s e o f P e n t a l o g y o f C a n t r e l l p r e s e n t s a t b i r t h t h ro u g h a c o m b i n a t i o n o f e c t o p i a c o r d i s
and omphalocele
?
Many other complications can present themselves with patients with this condition including but not limited
to:
?
Underdevelopment of the lungs, respiratory issues, embolism, impaired function of the heart, and higher risk of developing
internal infection of the abdominal cavity
? All in all, the condition is pretty severe and often times, fatal.
Pentalogy Of Cantrell: A look at its ultrasound
presentation Ultrasound
Causes of Pentalogy Of
Cantrell
? Causes are majorly unknown
? Occurs sporadically or without reason
? Some cases have been linked to familial
reasons, but not enough data has been
connected to prove this
? Has been linked to other genetic
associations such as:
? Trisomy 13, 18, and 21
? Turner?s Syndrome
Evaluation of Pentalogy of
Cantrell
?
Ultrasound is a great modality to diagnose and
identify rare congenital disorder
?
This diagnosis comes prenatally and usually during
the first trimester ultrasound
?
An echocardiogram is also used to further evaluate
heart defects caused by this disease process
?
An MRI, CT Scan, and X-ray can also be performed
to assess the degree of certain anomalies such as
abdominal and pericardial defects
Prognosis of Pentalogy of Cantrell
?
S u r v i va l ra te p r i m a r i l y d e p e n d s o n t h e s ev e r i t y o f d i s e a s e a n d w h et h e r i t a co m p l ete
t y p e ( i n c l u d i n g a l l 5 m a i n c h a ra c te r i st i c s ) o r i n co m p l ete t y p e ( i n c l u d i n g s o m e b u t n o t
a l l 5 m a i n c h a ra c te r i st i c s )
?
S u r v i va l ra te i s e s t i m a te d to b e a b o u t 3 7 %
?
T h e m e a n s u r v i va l ra te w i t h o u t a ny s u rg i ca l i nte r v e nt i o n i s a b o u t 3 6 h o u rs
?
Ev e n a n i nfa nt s u r v i v e s d i s e a s e , i t ca n l e a d to m o re co m p l i ca t i o n s l a te r i n l i fe
i n c l u d i n g b ra d yca rd i a , t a c hyc a rd i a , hy p o ten s i o n , e tc .
Treatments for Pentalogy of
Cantrell
?
Su rge r y i s t h e n u m b e r o n e t re atm e nt o f t h i s
d i s ea s e a n d o c c u rs i m m e d i ate ly p o st – bi rth.
?
T h e ex te nt o f t h e s u rge r y d e p e n d s o n t h e ex te nt
o f t h e d i s e a se , b u t a l o t o f t h e t i m e s u rge r y i s
u s e d to t re at d i a p hragmati c, ste r num , h e a r t a n d
a b d om inal d efe c t s .
?
Su rge r y m ay b e d o n e i n p a r t s a n d ca n go u p to
wh e n a p at i e nt i s 2 – 3 ye a rs o f a ge .
Pentalogy of Cantrell includes all of the
following findings except:
Questions
Time
A. Cardiovascular malformations
B. Diaphragmatic malformations
C. Omphalocele
D. Gastroschisis
How early can Pentalogy of Cantrell be
diagnosed during pregnancy?
Questions
Time
A. 2nd Trimester
B. 1st Trimester
C. Cannot be diagnosed until baby is born
D. 3rd Trimester
Refrences
?
Pe n ny, S . M . ( 2017) . E xa m i n a t i o n r ev i ew fo r u l t r a s o u n d : Ab d o m e n
o bstet ri cs & g y n e co l o g y . C re ate spac e I n d e pe n de nt
?
and
P u b l i shi ng P l at fo rm.
Pe ntal o gy o f C a nt r e l l – S ta t Pea rl s – N C B I b o o ks he l f . ( 2021, J u n e 11) . N at i onal C enter
fo r B i o te c hnol ogy
I nfo r mati on. htt ps:// www. nc bi.nl m.ni h. gov/ books/NB K55894
?
Pe nta l o g y o f C a nt r e l l . ( 2015, Fe b r u a r y 11) . N O R D ( N ati onal
D i s o rde rs). htt ps :// rare di se ase s .org /rare-
8/
O rganizatio n fo r R a re
d i s e a s e s/p e ntal ogy – o f – cantre l l/

Purchase answer to see full
attachment