Congenital heart disease Flashcards Preview

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Flashcards in Congenital heart disease Deck (20):
1

What are different causes of congenital heart disease?

- Copy number variation (CNV): whole chromosome, part of chromosome
- Single nucleotide variation: mendelian disorders
- CNV or SNV: charge
- Uncertain: VACTERL
- Multifactorial: isolated CHD
- Teratogens: rubella, alcohol, anti-epileptic drugs, maternal diabetes mellitus

2

Features of down syndrome

- Trisomy 21: 95% maternal non-disjunction (maternal age), 3% translocation, 2% mosaic
- 15% atrio-ventricular septal defects
- Duodenal atresia

3

How does coronary heart disease affect fetuses?

Increases chance of chromosome abnormality
- 19% of fetuses with CHD have abnormal chromosomes
- Associated with cystic hygroma on scan
- Only 13% of newborns with CHD have abnormal chromosomes

4

Features of Turner syndrome

- 30% mosaic, 5% 45,X/46XY
- Coarctation of aorta
- Short stature
- Gonadal dysgenesis
- Puffy hands

5

What is neck webbing

- Excess nuchal folds
- An indicator of prenatal cardiac difficulties

6

What syndromes have neck webbing?

- Turner syndrome
- Noonan syndrome
- CFC syndrome
- Leopard syndrome
- Costello syndrome

7

Features of Noonan syndrome

- Pulmonary stenosis
- Short stature
- Neck webbing
- Cryptorchidism
- Characteristic face
- PTPN11 gene (chr 12)

8

Features of Cardio-facio-cutaneous syndrome (CFC)

- Noonan-like
Plus:
- Ectodermal problems
- Developmental delay

9

Features of Leopard syndrome

- Noonan-like
Plus:
- Multiple lentigenes
- Deafness

10

Features of Costello syndrome

- Noonan-like
Plus:
- Thickened skin folds
- Susceptible to warts
- Cardiomyopathy
- Later cancer risk

11

Features of 22q11 deletion syndrome

- C ardiac malformation
- A bnormal facies
- T hymic hypoplasia
- C left palate
- H ypoparathyroidism
- 22 q11 deletion

Renal and Psychiatric

12

What 2 syndromes does 22q11 deletion syndrome encompass?

DiGeorge and Velocardiofacial (Shprintzen) syndromes

13

Features of DiGeorge syndrome

- Thymic hypoplasia
- Hypoparathyroidism
- Outflow tract cardiac malformation
- Usually sporadic

14

Features of Shprintzen syndrome

- Cleft palate/palatal insufficiency
- Outflow tract cardiac malformation
- Characteristic face
- Autosomal dominant

15

Clinical features of 22q11 deletion syndrome

- Speech delay/palatal dysfunction common
- Very variable disorder

If 2 or more clinical features present- test
- Low frequency (1-2%) in unselected CHD
- Only around 25% are familial

16

Psychiatric problems with 22q11 deletion

- 2% schizophrenic patients had 22q11 deletion
- 22% 22q11 deletion patients had schizophrenia
- 40 adults with 22qDS: 25% schizophrenia, 13% depression, 2.5% bipolar affective

17

How is 22q deletion a genomic disease?

- Low copy number repeats
- Predispose to deletion and translocation (e.g. t11;22)

18

Features of Williams syndrome (creepy face)

- Aortic stenosis (supravalvar)
- Hypercalcemia
- 5th finger clinodactyly
- Characteristic face
- Cocktail party manner
- Deletion of elastin on chromosome 7
- Deletion of contiguous genes
- LIM kinase

19

Features of Teratogens

- Fetal alcohol syndrome: ADHD, 3-5 units per week
- Antiepileptic drugs
- Rubella
- Maternal diabetes, Mellitus

20

What is ventricular septal defect associated with?

VSD is associated with folate deficiency
- Periconceptual multivitamin use and nonsyndromic cardiac defects
- MTHFR and CHD