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Difficulty: MediumPediatric Cardiovascular Disorders

Match each pediatric patient's clinical presentation with the congenital cardiovascular anomaly most likely to be found on echocardiography.

  • A 3-day-old infant with a flat facial profile, upslanting palpebral fissures, and a single palmar crease.Complete atrioventricular (AV) septal defect
  • A 14-year-old girl with primary amenorrhea, short stature, a broad chest, and a webbed neck.Coarctation of the aorta
  • A 2-month-old boy with hypocalcemic seizures, cleft palate, and an absent thymic shadow.Truncus arteriosus
  • A 4-year-old boy with elfin facies, intellectual disability, and an overly friendly demeanor.Supravalvular aortic stenosis
  • A 6-month-old infant with sensorineural hearing loss, cataracts, and a history of maternal rash in the first trimester.Patent ductus arteriosus

Answer

Down syndrome clinical features match with complete AV septal defect; Turner syndrome matches with coarctation of the aorta; DiGeorge syndrome matches with truncus arteriosus; Williams syndrome matches with supravalvular aortic stenosis; and congenital rubella syndrome matches with patent ductus arteriosus.
Each genetic or infectious syndrome has a classic, highly testable association with specific congenital heart diseases. Down syndrome (Trisomy 21) is strongly linked to endocardial cushion defects resulting in a complete AV septal defect. Turner syndrome (45,X) is associated with left-sided obstructive lesions, notably coarctation of the aorta and bicuspid aortic valve. DiGeorge syndrome (22q11.2 microdeletion) impairs neural crest cell migration, causing conotruncal abnormalities like truncus arteriosus and tetralogy of Fallot. Williams syndrome involves a microdeletion on chromosome 7q11.23 that includes the elastin gene, causing supravalvular aortic stenosis. Finally, congenital rubella syndrome classically causes patent ductus arteriosus (PDA) alongside its sensory manifestations.

Step-by-Step Solution

1
Analyze the first clinical vignette to identify the underlying genetic syndrome.
The infant with a flat facial profile and single palmar crease has Down syndrome (Trisomy 21).
Recognizing the syndromic physical phenotype is the first step in predicting the associated cardiac defect.
2
Match Down syndrome to its classic congenital heart defect.
Matched to Complete atrioventricular (AV) septal defect.
Endocardial cushion defects are the most frequent cardiac anomalies in Trisomy 21.
3
Evaluate the 14-year-old with primary amenorrhea, webbed neck, and short stature.
Identified as Turner syndrome (45,X), which pairs with Coarctation of the aorta.
Turner syndrome classically presents with left-sided outflow tract obstructions.
4
Assess the infant with hypocalcemic seizures, cleft palate, and absent thymus.
Identified as DiGeorge syndrome (22q11.2 deletion), which pairs with Truncus arteriosus.
DiGeorge syndrome is characterized by abnormal development of the 3rd and 4th pharyngeal pouches, leading to conotruncal cardiac defects.
5
Review the patient with elfin facies and overly friendly demeanor.
Identified as Williams syndrome, which pairs with Supravalvular aortic stenosis.
Deletion of the elastin gene in Williams syndrome leads to narrowing of the ascending aorta above the valve.
6
Diagnose the infant with hearing loss, cataracts, and maternal rash history.
Identified as congenital rubella syndrome, which pairs with Patent ductus arteriosus.
Classic congenital rubella triad involves the eyes, ears, and heart (primarily PDA and pulmonary artery stenosis).

Key Concept

Associations between pediatric genetic/congenital syndromes and specific congenital cardiovascular anomalies.
Estimated Time:1m 0s
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Topics

Pediatric Cardiovascular Disorders

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