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Buy Heart Diseases in Congenital Syndromes
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1. A 16-year-old boy is evaluated by echocardiography due to a
family history of two paternal uncles who died suddenly. His
height is >95th percentile for age, and he has a pectus excavatum deformity of the sternum and a high arched palate.
Images from his echocardiogram are shown in Figure 38.1
and Video 38.1. Which of the following additional ndings
would most likely be found?
A. Fetal genetic screening would have shown 47XX 21.
B. An abnormal brillin protein.
C. Six ngers on his right hand.
D. Supravalvular stenosis in the pulmonary tree with
additional focused echo images.
E. A bid uvula.
2. Which of the following is correct regarding congenital heart
disease associated with trisomy 21 (Down syndrome)?
A. Approximately 70% of children born with trisomy 21
will have associated congenital heart disease.
B. Tetralogy of Fallot is the most common associated
congenital heart lesion in patients with trisomy 21.
C. Atrioventricular canal (endocardial cushion) defects are
pathognomonic of trisomy 21.
D. Ventricular septal defect is the most common congenital
heart lesion in patients with trisomy 21.
E. Trisomy 21 is rarely associated with congenital heart
disease.
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3. Which of the following ndings on transthoracic echocardiogram is most consistent with a diagnosis of Noonan
syndrome?
A. Concentric left ventricular hypertrophy and a
dysmorphic, stenotic pulmonary valve
B. Nonhypertrophied left ventricle and a secundum ASD
C. Tetralogy of Fallot with a patent ductus arteriosus
D. Concentric left ventricular hypertrophy and a
dysmorphic, stenotic aortic valve
E. Bicuspid, stenotic aortic valve with coarctation of the aorta
4. A 5-year-old patient with dysmorphic features is sent
for echocardiography (Fig. 38.2 and Video 38.2). Based
on the ndings, the most likely diagnosis from a genetic
standpoint is:
Chapter 38
Heart Diseases in
Congenital Syndromes
Jacqueline A. Noonan and Louis I. Bezold
Figure 38.1
Figure 38.2
(c) 2015 Wolters Kluwer. All Rights Reserved.
Chapter 38 Heart Diseases in Congenital Syndromes 319
A. Trisomy 21.
B. Williams syndrome.
C. Trisomy 13.
D. Turner syndrome.
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E. These echo ndings are not associated with a congenital
syndrome.
5. A 4-year-old, very outgoing, but dysmorphic boy with a
history of severe pulmonary branch stenosis as an infant
with subsequent resolution presents with a new murmur.
An echocardiogram is performed with the ndings shown
in Figure 38.3 and Video 38.3. Based on these images, the
most likely genetic diagnosis is:
A. Trisomy 18
B. DiGeorge syndrome
C. Williams syndrome
D. Noonan syndrome
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