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TAS Cardiology > Genetic and Environmental Factors In Development of Heart Disease ✅ > Flashcards

Genetic and Environmental Factors In Development of Heart Disease ✅ Flashcards

1
Q

Do all congenital heart disease cases have an identifiable cause?

A

No, only a small percentage do

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2
Q

What are the possible identifiable causes of congenital heart disease?

A
  • Primary genetic factors
  • Environmental factors
  • Genetic-environmental interactions (multi-factorial)
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3
Q

What % of CHD with an identifiable cause is caused by primary genetic factors?

A

10%

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4
Q

What are the potential primary genetic factors causing CHD?

A
  • Chromosomal abnormalities

- Single gene abnormalities

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5
Q

What syndromes are associated with cardiac lesions?

A
  • Down’s syndrome
  • Turners syndrome
  • Noonan’s syndrome
  • William’s syndrome
  • DiGeorge syndrome
  • CHARGE
  • VACTERL
  • Edward’s syndrome
  • Patau syndrome
  • Marfan’s syndrome
  • Erlers-Danlos syndrome
  • Tuberous sclerosis
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6
Q

What is the genetic abnormality in Down’s syndrome?

A

Trisomy 21

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7
Q

What % of children with Down’s syndrome have CHD?

A

Up to 50%

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8
Q

What are the most common CHD in children with Down’s syndrome?

A

VSD most common, followed by AVSD.

Pulmonary vascular disease develops early

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9
Q

What is the genetic abnormality in Turner’s syndrome?

A

XO

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10
Q

What CHDs are found in Turner’s syndrome?

A
  • Bicuspid aortic valve

- Coarctation of the aorta

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11
Q

What % of children with Turner’s syndrome have a bicuspid aortic valve?

A

33%

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12
Q

What is the genetic abnormality in Noonan’s syndrome?

A

PTPN11 gene on chromosome 12

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13
Q

What CHDs are found in Noonan’s syndrome?

A
  • Pulmonary stenosis
  • ASD
  • Hypertrophic cardiomyopathy
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14
Q

What is the genetic abnormality in William’s syndrome?

A

Deletion of genes from the long arm of chromosome 7

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15
Q

What CHDs are found in William’s syndrome?

A
  • Supravalvular aortic stenosis

- Branch pulmonary artery stenosis

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16
Q

What is the genetic abnormality in DiGeorge syndrome?

A

22q11.2 deletion

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17
Q

What CHDs are found in DiGeorge syndrome?

A
  • Aortic arch abnormalities
  • Truncus arteriosus
  • Pulmonary atresia
  • Tetralogy of Fallot
  • Familial VSD
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18
Q

What is the genetic abnormality in CHARGE syndrome?

A

CHD7 gene on chromosome 8

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19
Q

What CHDs are found in CHARGE syndrome?

A
  • Tetralogy of Fallot
  • VSD
  • AVSD
  • Double outlet right ventricle
20
Q

What is the abnormality in VACTERL?

A

Abnormalities in structures derived from the embryonic mesoderm (no known genetic or chromosomal cause)

21
Q

What CHDs are found in VACTERL?

A
  • Tetralogy of Fallot
  • VSD
  • Coarctation of the aorta
  • PDA
22
Q

What is the genetic abnormality in Edwards syndrome?

A

Trisomy 18

23
Q

What CHDs are found in Edwards syndrome?

A
  • VSD
  • ASD
  • PDA
  • Coarctation of the aorta
  • Bicuspis aortic valve
  • Double outlet right ventricle
24
Q

What is the genetic abnormality in Patau syndrome?

A

Trisomy 13

25
Q

What CHDs are found in Patau syndrome?

A
  • VSD
  • ASD
  • PDA
  • Coarctation of the aorta
  • Bicuspid aortic valve
  • Double outlet right ventricle
26
Q

What is the genetic abnormality in Marfans synrome?

A

FBN1 gene encoding connective protein fibrillin-1 on chromosome 5

27
Q

What CHDs are found in Marfan’s syndrome?

A
  • Aortic aneurysm
  • Aortic regurgitation
  • Mitral regurgitation
28
Q

What is the genetic abnormality in Ehlers-Danlos syndrome?

A

Defect in synthesis of type I or III collagen

29
Q

What CHDs are found in Ehlers-Danlos syndrome?

A

Aortic root dilatation

30
Q

What is the genetic abnormality in tuberous sclerosis?

A

TSC1 on chromosome 9 or TSC2 on chromosome 16, which code for tumour suppressor genes hamartin and tuberin respectively

31
Q

What is the inheritance pattern of tuberous sclerosis?

A

Autosomal dominant

32
Q

What cardiac disease is found in tuberous sclerosis?

A

Cardiac rhabdomyoma

33
Q

What prenatal environmental factors can lead to CHD?

A
  • Diabetes mellitus
  • Maternal phenylketonuria
  • SLE
  • Rubella
  • Alcohol
  • Aspirin
  • Lithium
  • Coxsackie B infection
  • Diphenylhydantoin
34
Q

What CHD might maternal diabetes mellitus lead to?

A
  • LVOT (left ventricular outflow tract) obstruction
  • Hypertrophic cardiomyopathy
  • TGA (transposition of great arteries)
  • VSD
35
Q

What CHD might maternal phenylketonuria lead to?

A
  • VSD
  • ASD
  • PDA
  • Coarctation of the aorta
36
Q

What CHD might maternal SLE lead to?

A
  • Heart block
  • Pericarditis
  • Endomyocardial fibrosis
37
Q

What CHD might prenatal rubella lead to?

A
  • PDA

- Branch pulmonary stenosis

38
Q

What CHD might prenatal exposure to alcohol lead to?

A
  • Pulmonary stenosis
  • VSD
  • ASD
  • Tetralogy of Fallot
39
Q

What CHD might prenatal exposure to aspirin lead to?

A
  • PPHN (persistent pulmonary hypertension of the newborn)
40
Q

What CHD might prenatal exposure to lithium lead to?

A
  • Ebstein abnormality
41
Q

What CHD might prenatal Coxsackie B infection lead to?

A
  • Myocarditis
42
Q

What CHD might prenatal exposure to diphenylhydantoin lead to?

A
  • Aortic stenosis

- Pulmonary stenosis

43
Q

What % of CHD with an identifiable cause is caused by environmental factors?

A

3-5%

44
Q

What % of CHD with an identifiable cause is caused by genetic-environmental interactions (multifactorial)?

A

85%

45
Q

What is the recurrence risk of cardiovascular anomalies?

A

Varies, from 1-4% and is higher with more common lesions e.g. VSD

46
Q

What happens to the recurrence risk of cardiovascular anomalies with two affected first-degree relatives?

A

The risk is tripled

TAS Cardiology (7 decks)

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