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Soru

Zorluk: OrtaPediatric Cardiovascular Disorders

Match each pediatric clinical presentation to the congenital cardiovascular anomaly most classically associated with the underlying condition.

  • A 15-year-old girl with primary amenorrhea, webbed neck, broad chest, and short statureCoarctation of the aorta
  • A 3-month-old infant with hypotonia, upslanting palpebral fissures, protruding tongue, and a single palmar creaseComplete atrioventricular septal defect
  • A 4-year-old boy with 'elfin' facies, highly sociable demeanor, intellectual disability, and hypercalcemiaSupravalvular aortic stenosis
  • A neonate born to an unimmunized mother, presenting with microcephaly, bilateral cataracts, and sensorineural hearing lossPatent ductus arteriosus
  • A 2-day-old infant with hypocalcemic tetany, cleft palate, abnormal facies, and absent thymic shadow on chest radiographTruncus arteriosus

Cevap

The clinical vignettes describe Turner syndrome, Down syndrome, Williams syndrome, congenital rubella syndrome, and DiGeorge syndrome, which are classically associated with coarctation of the aorta, complete atrioventricular septal defect, supravalvular aortic stenosis, patent ductus arteriosus, and truncus arteriosus, respectively.
Each genetic or infectious syndrome has a classic embryological or teratogenic mechanism that preferentially affects specific cardiovascular structures, making pattern recognition essential for board exams.

Adım Adım Çözüm

1
Analyze the first vignette to identify the syndrome.
The 15-year-old with primary amenorrhea and webbed neck has Turner syndrome.
Turner syndrome requires screening for its classic cardiovascular anomalies, primarily coarctation of the aorta.
2
Analyze the second vignette to identify the syndrome.
The 3-month-old with hypotonia and a single palmar crease has Down syndrome.
Down syndrome is strongly associated with endocardial cushion defects, presenting as a complete AV septal defect.
3
Analyze the third vignette to identify the syndrome.
The 4-year-old with elfin facies and hypercalcemia has Williams syndrome.
Williams syndrome is uniquely associated with supravalvular aortic stenosis due to elastin gene mutations.
4
Analyze the fourth vignette to identify the syndrome.
The neonate with cataracts and hearing loss has congenital rubella syndrome.
Congenital rubella infection affects fetal ductal tissue, leading to a persistent patent ductus arteriosus.
5
Analyze the fifth vignette to identify the syndrome.
The neonate with hypocalcemia and an absent thymus has DiGeorge syndrome.
DiGeorge syndrome involves abnormal neural crest cell migration, causing conotruncal defects like truncus arteriosus.

Anahtar Kavram

Syndromic associations of congenital heart defects
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Konular

Pediatric Cardiovascular Disorders

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