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MFM > Fetal Cardiac Anomalies > Flashcards

Fetal Cardiac Anomalies Flashcards

1
Q

What is the commonest heart defect associated with ventricular disproportion in the fetus?

A

Coarctation of the aorta

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2
Q

What proportion of major cardiac malformations have an abnormal 4 chamber view?

A

It is abnormal in about 60% of major cardiac malformations

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3
Q

What is the incidence of CHD?

A

~8-9 per 1000 live births

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4
Q

What specific types of CHDs are associated with pregestational diabetes?

A
  • Heterotaxy
  • Truncus arteriosus
  • Transposition of the great arteries
  • Single-ventricle defects
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5
Q

What maternal metabolic disorders are associated with CHD?

A
  • Diabetes Mellitus

- Phenylketonuria

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6
Q

What is the recurrence risk of CHD associated with maternal CHD?

A

3-7%

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7
Q

What is the recurrence risk of CHD associated with paternal CHD?

A

2-3%

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8
Q

What is the recurrence risk of CHD associated with an affected sibling ?

A

2-6%

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9
Q

What are the main cardiac abnormalities associated with maternal retinoic acid use?

A
  • conotruncal defects

- aortic arch abnormalities

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10
Q

What are the vessels coming out of the aortic arch?

A
  • Brachiocephalic artery
  • Left common carotid artery
  • Left subclavian artery
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11
Q

What is the most common chromosomal anomaly in infants with CHD?

A

Trisomy 21

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12
Q

What is the second most common chromosomal anomaly in infants with CHD?

A

DiGeorge Syndrome (Deletion 22q11.2)

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13
Q

What syndrome is also known by the acronym CATCH-22 ? And what does the acronym stand for?

A 
DiGeorge Syndrome
C = cardiac anomalies
A = abnormal facies
T = thymus hypoplasia
C = cleft palate
H = Hypocalcemia
22 = microdeletion on chromosome 22
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14
Q

Which cardiac anomalies are commonly found in DiGeorge Syndrome (22q11.2)?

A

Conotruncal anomalies

  • interrupted aortic arch
  • common arterial trunk
  • absent pulmonary valve syndrome
  • pulmonary atresia with ventricular septal defect
  • Tetralogy of Fallot
  • Conoventricular septal defects
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15
Q

Which cardiac variant either isolated or in combination with a cardiac anomaly increases the risk of deletion 22q11.2?

A

Right aortic arch

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16
Q

Which gene seems to be responsible for the cardiac anomalies in DiGeorge Syndrome?

A

TBX1 gene

17
Q

What are the most common cardiac anomalies found in Noonan Syndrome?

A
  • valvular pulmonary stenosis (70%) (secondary to dysplastic leaflets)
  • Hypertrophic cardiomyopathy (20%)

** Cardiac involvement in Noonan Syndrome = 80-90%

18
Q

What are the 2 most common cardiac anomalies found in Holt-Oram Syndrome?

A
  • Secundum atrial septal defects
  • VSD

** Other anomalies such as AVSDs and conotruncal anomalies reported + conduction anomalies

19
Q

What are the main cardiac anomalies found in Alagille Syndrome?

A

Right-sided heart diseases such as:

  • pulmonary artery branch stenosis
  • pulmonary valve stenosis
  • TOF
20
Q

What is the typical cardiac finding of tuberous sclerosis in fetus?

A

Rhabdomyoma

21
Q

What are the most common cardiac anomalies found in CHARGE syndrome?

A
  • TOF or other conotruncal anomalies

- other CHD reported such as : septal defects, right aortic arch, biscuspid valve, LSVC

22
Q

Which cardiac anomalies are least likely to be associated with chromosomal abnormalities?

A
  • Transposition of great arteries

- Heterotaxy syndromes

23
Q

What are the most common cardiac anomalies associated with 7q11.23 deletion (William-Beuren Syndrome)?

A
  • supravalvular aortic & pulmonary stenosis
24
Q

In all congenital heart defects, what is the ratio of isolated CHD vs. CHD associated with genetic disorders?

A
  • 70% are isolated (nonsyndromc in type)

- 30% are associated with a genetic disorder

25
Q

What is the recurrence risk of nonsyndrome congenital heart defect?

A

1-5%

26
Q

What are the most common cardiac lesions presenting with a left cardiac axis deviation?

A
  • TOF
  • common arterial trunk
  • coarctation of the aorta
  • Ebstein anomaly
27
Q

What are the most common cardiac lesions presenting with a right axis deviation?

A
  • Double outlet right ventricle
  • AVSD
  • common atrium
28
Q

Which syndrome is commonly associated with situs inversus?

A

Kartagener Syndrome (50% will have situs inversus)

Autosomal dominant disease with primary ciliary dyskinesia which results in recurrent respiratory infections & reduced fertility in adult life

MFM (10 decks)

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