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A 6-week-old boy is brought to the emergency department due to sweating and difficulty
breathing during feeding. The patient was born to a 38-year-old woman who declined
prenatal testing and had an uncomplicated home vaginal birth. The patient's weight is
<5th percentile. Vital signs show tachycardia. Examination shows a round, dysmorphic
face with upslanting palpebral fissures, a furrowed tongue, and abnonnal palmar
creases. Auscultation reveals a loud 52, a IWI systolic ejection munnur best heard at the
left upper sternal border, and a IIINI holosystolic munnur at the left lower sternal border.
Bibasilar crackles are present. Which of the following congenital heart defects is most
likely present in this patient?

0 A. Coarctation of the aorta

0 B. Complete atrioventricular septal defect
0 C. Ebstein anomaly
0 D. Patent ductus arteriosus
0 E. Tetralogy of Fallot
0 F. Transposition of the great arteries
0 G. Truncus arteriosus

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A 6-week-old boy is brought to the emergency department due to sweating and difficulty
breathing during feeding. The patient was born to a 38-year-old woman who declined
prenatal testing and had an uncomplicated home vaginal birth. The patient's weight is
<5th percentile. Vital signs show tachycardia. Examination shows a round, dysmorphic
face with upslanting palpebral fissures, a furrowed tongue, and abnonnal palmar
creases. Auscultation reveals a loud 52, a IINI systolic ej ection munnur best heard at the
left upper sternal border, and a IIINI holosystolic munnur at the left lower sternal border.
Bibasilar crackles are present. Which of the following congenital heart defects is most
likely present in this patient?

A. Coarctation of the aorta [2%)

B. Complete atrioventricular septal defect [59%)
C. Ebstein anomaly [2%]
D. Patent ductus arteriosus [2%)
E. Tetralogy of Fallot [31%)
F. Transposition of the great arteries [2%)
G. Truncus arteriosus [3%]

Proceed to Next Item

Explanation: User

Complete atrioventricular canal defect

Aorta

Pulmonary artery
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Explanation: User ld

Complete atrioventricular canal defect

Aorta

Pulmonary artery

Right
atrium
Common AV valve

Ventricular
_}--k"\ septal defect
Atrial septal
defect
Left ventricle
Right-~
ventricle

©UWorld

Complete atrioventricular septal defect (CAVSD) is the most common congenital

heart defect in patients with Down syndrome. Failure of the endocardial cushions to
 ©UWorld
Complete atrioventricular septal defect (CAVSD) is the most common congenital
heart defect in patients with Down syndrome. Failure of the endocardial cushions to
merge results in both ventricular septal defect (VSD) and atrial septal defect (ASD) as
well as a common atrioventricular valve due to poor mitral and tricuspid valve
development.

In CAVSD, heart f ailure results from blood mixing between the chambers and severe
atrioventricular valve regurgitation, leading to volume overload and excessive pulmonary
blood flow. Diaphoresis/dyspnea with feeds and crackles typically manifest around age 6
weeks as pulmonary vascular resistance falls. Auscultation may reveal the following:
• Loud S2 due to pulmonary hypertension
• Systolic ej ection murmur from increased flow across the pulmonary valve from
the left to right shunt across the ASD
• Holosystolic murmur of VSD that may be soft or absent if the defect is large

(Choice A) Coarctation of the aorta is associated with Turner syndrome and presents
with diminished or absent lower-extremity pulses and upper-extremity hypertension.

(Choice C) Symptomatic Ebstein anomaly presents with cyanosis and heart fail ure due
to severe tricuspid regurgitation. Auscultation reveals a "triple or quadruple gallop"
(widely split S1 and S2 sounds plus a loud S3 and/or S4) and a holosystolic or early
systolic murmur at the left lower sternal border.

(Choice D) Patent ductus arteriosus presents with a continuous "machine-like" murmur.

It is strongly associated with congenital rubella syndrome.

(Choice E) Tetralogy of Fallot (TOF) presents with cyanosis and a single second heart
sound. The primary sound is a harsh crescendo-decrescendo munnur caused by right
ventricular outflow tract obstruction rather than a VSD munnur. TOF typically occurs
sporadically without other anomalies; only 15% of patients with TOF have an associated
condition (eg, Down or DiGeorge syndromes).

(Choices F and G) Truncus arteriosus and transposition of the great arteries

(TGA) are strongly associated with DiGeorge syndrome. Truncus arteriosus presents
with neonatal cyanosis, heart failure, and a systolic ejection munnur with a loud ejection
click at the left sternal border. TGA also causes severe neonatal cyanosis and
tachypnea but patients often appear relatively comfortable.

Educational objective:
Complete atrioventricular septal defect is the most common heart defect with Down
ea •••- ~ • .. ~ ,. .. '""' ,.. .,. .,. .,. .. a - ...... ,.

Feedback EnQock
----
 ©UWorld
Complete atrioventricular septal defect (CAVSD) is the most common congenital
heart defect in patients with Down syndrome. Failure of the endocardial cushions to
merge results in both ventricular septal defect (VSD) and atrial septal defect (ASD) as
well as a common atrioventricular valve due to poor mitral and tricuspid valve
development.

In CAVSD, heart f ailure results from blood mixing between the chambers and severe
atrioventricular valve regurgitation, leading to volume overload and excessive pulmonary
blood flow. Diaphoresis/dyspnea with feeds and crackles typically manifest around age 6
weeks as pulmonary vascular resistance falls. Auscultation may reveal the following:
• Loud S2 due to pulmonary hypertension
• Systolic ej ection murmur from increased flow across the pulmonary valve from
the left to right shunt across the ASD
• Holosystolic murmur of VSD that may be soft or absent if the defect is large

(Choice A) Coarctation of the aorta is associated with Turner syndrome and presents
with diminished or absent lower-extremity pulses and upper-extremity hypertension.

(Choice C) Symptomatic Ebstein anomaly presents with cyanosis and heart fail ure due
to severe tricuspid regurgitation. Auscultation reveals a "triple or quadruple gallop"
(widely split S1 and S2 sounds plus a loud S3 and/or S4) and a holosystolic or early
systolic murmur at the left lower sternal border.

(Choice D) Patent ductus arteriosus presents with a continuous "machine-like" murmur.

It is strongly associated with congenital rubella syndrome.

(Choice E) Tetralogy of Fallot (TOF) presents with cyanosis and a single second heart
sound. The primary sound is a harsh crescendo-decrescendo munnur caused by right
ventricular outflow tract obstruction rather than a VSD munnur. TOF typically occurs
sporadically without other anomalies; only 15% of patients with TOF have an associated
condition (eg, Down or DiGeorge syndromes).

(Choices F and G) Truncus arteriosus and transposition of the great arteries

(TGA) are strongly associated with DiGeorge syndrome. Truncus arteriosus presents
with neonatal cyanosis, heart failure, and a systolic ejection munnur with a loud ejection
click at the left sternal border. TGA also causes severe neonatal cyanosis and
tachypnea but patients often appear relatively comfortable.

Educational objective:
Complete atrioventricular septal defect is the most common heart defect with Down
ea •••- ~ • .. ~ ,. .. '""' ,.. .,. .,. .,. .. a - ...... ,.

Feedback EnQock
----
 blood flow. Diaphoresis/dyspnea with feeds and crackles typically manifest around age 6
weeks as pulmonary vascular resistance falls. Auscultation may reveal the following:
• Loud S2 due to pulmonary hypertension
• Syst olic ejection m urmur from increased flow across the pulmonary valve from
the left to right shunt across the ASD
• Holosyst olic murmur of VSD that may be soft or absent if the defect is large

(Choice A ) Coarctation of the aorta is associated with Turner syndrome and presents
with diminished or absent lower-extremity pulses and upper-extremity hypertension.

(Choice C) Symptomatic Ebstein anomaly presents with cyanosis and heart failure due
to severe tricuspid regurgitation. Auscultation reveals a "triple or quadruple gallop"
(widely split S1 and S2 sounds plus a loud S3 and/or S4) and a holosystolic or early
systolic murmur at the left lower sternal border.

(Choice D) Patent ductus arteriosus presents with a continuous "machine-like" murmur.

It is strongly associated with congenital rubella syndrome.

(Cho ice E) Tetralogy of Fallot (TOF) presents with cyanosis and a single second heart
sound. The primary sound is a harsh crescendo-decrescendo murmur caused by right
ventricular outflow tract obstruction rather than a VSD murmur. TOF typically occurs
sporadically without other anomalies: only 15% of patients with TOF have an associated
condition (eg, Down or DiGeorge syndromes).

(Choices F and G) Truncus arteriosus and transposition of the great arteries

(TGA) are strongly associated with DiGeorge syndrome. Truncus arteriosus presents
with neonatal cyanosis, heart failure, and a systolic ejection murmur with a loud ejection
click at the left sternal border. TGA also causes severe neonatal cyanosis and
tachypnea but patients often appear relatively comfortable.

Educational object ive:

Complete atrioventricular septal defect is the most common heart defect with Down
syndrome. Clinical features include heart failure in early infancy, a systolic ejection
murmur due to increased pulmonary flow from the atrial septal defect, and a holosystolic
murmur due to the ventricular septal defect.

References:
1. Cardiovascular abnormalities in Down syndrome: spectrum,
management and survival over 22 years.

Time Spent: 3 seconds Copyright© UWorld Last updated: [11 /09/2016)

Feedback EnQ ock

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Media Exhibit

phic features of down syndrome I

Epicanthic folds
I

Upslanting
palpebral features

Flat facial profile _.!IJ.n:fti!IJ

Short neck with -A~,
excess skin

Furrowed tongue

Sandal-toe deformity Hypoplastic incurved

5th finger
I

\
Single transverse
palmar crease
- Brushfield spots
 Item ~?M k <] C> !j ~~ ~ , 0I[A)
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Media Exhibit

lY ofFallot

Tetralogy of Fallot

Overriding Aorta

Pulmonary
stenosis

Ventricular
septal
defect

I
Right ventricular hypertrophy
@ UWo~d
 Item ~?M k <] C> !j ~~ ~ , 0I[A)
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Media Exhibit

; arteriosus

Truncus art eriosus

Vent ricular
,-----..:,--- septal
defect

@UWotld
 Item ~?'Mark <] C> !j ~~ ~ , 0I[AJ
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Media Exhibit

)Sition of the great arteries

Transposition of Great Vessels

Transposed aorta

Transposed
pulmonary
artery

©USMLEWorld, LLC