Fetal Cardiac Anomalies Flashcards
What is the commonest heart defect associated with ventricular disproportion in the fetus?
Coarctation of the aorta
What proportion of major cardiac malformations have an abnormal 4 chamber view?
It is abnormal in about 60% of major cardiac malformations
What is the incidence of CHD?
~8-9 per 1000 live births
What specific types of CHDs are associated with pregestational diabetes?
- Heterotaxy
- Truncus arteriosus
- Transposition of the great arteries
- Single-ventricle defects
What maternal metabolic disorders are associated with CHD?
- Diabetes Mellitus
- Phenylketonuria
What is the recurrence risk of CHD associated with maternal CHD?
3-7%
What is the recurrence risk of CHD associated with paternal CHD?
2-3%
What is the recurrence risk of CHD associated with an affected sibling ?
2-6%
What are the main cardiac abnormalities associated with maternal retinoic acid use?
- conotruncal defects
- aortic arch abnormalities
What are the vessels coming out of the aortic arch?
- Brachiocephalic artery
- Left common carotid artery
- Left subclavian artery
What is the most common chromosomal anomaly in infants with CHD?
Trisomy 21
What is the second most common chromosomal anomaly in infants with CHD?
DiGeorge Syndrome (Deletion 22q11.2)
What syndrome is also known by the acronym CATCH-22 ? And what does the acronym stand for?
DiGeorge Syndrome C = cardiac anomalies A = abnormal facies T = thymus hypoplasia C = cleft palate H = Hypocalcemia 22 = microdeletion on chromosome 22
Which cardiac anomalies are commonly found in DiGeorge Syndrome (22q11.2)?
Conotruncal anomalies
- interrupted aortic arch
- common arterial trunk
- absent pulmonary valve syndrome
- pulmonary atresia with ventricular septal defect
- Tetralogy of Fallot
- Conoventricular septal defects
Which cardiac variant either isolated or in combination with a cardiac anomaly increases the risk of deletion 22q11.2?
Right aortic arch
Which gene seems to be responsible for the cardiac anomalies in DiGeorge Syndrome?
TBX1 gene
What are the most common cardiac anomalies found in Noonan Syndrome?
- valvular pulmonary stenosis (70%) (secondary to dysplastic leaflets)
- Hypertrophic cardiomyopathy (20%)
** Cardiac involvement in Noonan Syndrome = 80-90%
What are the 2 most common cardiac anomalies found in Holt-Oram Syndrome?
- Secundum atrial septal defects
- VSD
** Other anomalies such as AVSDs and conotruncal anomalies reported + conduction anomalies
What are the main cardiac anomalies found in Alagille Syndrome?
Right-sided heart diseases such as:
- pulmonary artery branch stenosis
- pulmonary valve stenosis
- TOF
What is the typical cardiac finding of tuberous sclerosis in fetus?
Rhabdomyoma
What are the most common cardiac anomalies found in CHARGE syndrome?
- TOF or other conotruncal anomalies
- other CHD reported such as : septal defects, right aortic arch, biscuspid valve, LSVC
Which cardiac anomalies are least likely to be associated with chromosomal abnormalities?
- Transposition of great arteries
- Heterotaxy syndromes
What are the most common cardiac anomalies associated with 7q11.23 deletion (William-Beuren Syndrome)?
- supravalvular aortic & pulmonary stenosis
In all congenital heart defects, what is the ratio of isolated CHD vs. CHD associated with genetic disorders?
- 70% are isolated (nonsyndromc in type)
- 30% are associated with a genetic disorder
