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Systems 1 > Congenital/Genetic Heart Disease > Flashcards

Congenital/Genetic Heart Disease Flashcards

1
Q

What is the most common heart defect in Down’s syndrome patients?

A

AV septal defect (15%)

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2
Q

What is a cystic hygroma? What is it associated with?

A

Lymph filled tumour of neck

Associated with CHD

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3
Q

What are the genetic conditions associated with neck webbing?

A 
Noonan's 
Leopard
Cardi-facio cutaneous
Costello syndrome
Turner's Syndrome
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4
Q

What are Noonan-like syndromes associated with?

A

Pulmonary stenosis

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5
Q

What is the cause of Turner’s Syndrome?

A

45, X

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6
Q

What does CATCH22 stand for?

A 
Cardiac malformation
Abnormal facies
Thymic hypoplasia
Cleft pallate 
Hypoparathyroidism
22q11 deletion syndrome
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7
Q

What is Turner’s syndrome associated with?

A

Neck webbing
Short stature
Gonadal dysgenesis
Coarctation of the aorta

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8
Q

What additional heart condition is associated with Costello syndrome?

A

Cardiomyopathy

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9
Q

22q11 syndrome encompasses which conditions?

A

DIGeorge

Shprintzen

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10
Q

DiGeorge Syndrome is associated with what?

A

Tetralogy of fallot

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11
Q

Shprintzen Syndrome is associated with what?

A

Tetralogy of fallot

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12
Q

When do you test for 22q11 syndrome?

A

If they present 2 or more clinical features

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13
Q

22q11 deletion is commonly associated with what non-cardiac issues?

A

Psychiatric problems
Schizophrenia
Depression

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14
Q

Williams Syndrome is associated with what?

A

Supravalvular Aortic stenosis
Hypercalcaemia
Cocktail party manner

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15
Q

What causes Williams syndrome?

A

Deletion of elastin (chrom 7)

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16
Q

Most common teratogens

A

Fetal alcohol
Anti-epileptics
Rubella
Maternal DM

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17
Q

VSD is associated with which deficiency?

A

Folate

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18
Q

What is Marfan’s Syndrome

A

Autosomal dominant syndrome of the Fibrillin 1 gene (chrom 15q21)

19
Q

What is used to diagnose Marfan’s syndrome?

A

Ghent criteria (2010)

20
Q

What is the Ghent criteria?

A 
Aortic dilation/dissection
Ectopia lentis
Fibrillin 1
Family history
(Systemic score >7)
21
Q

What tests should always be done for suspected Marfan’s syndrome?

A

ALWAYS ECHO

22
Q

What tests should be used to confirm or rule out a marfans diagnosis?

A

Gene test for Fibrillin 1
MRI - pelvic spine (dural ectasia)
Pelvic X-ray

23
Q

What are the Marfan like syndromes?

A

Loeys Dietz
Marfan Syndrome type 2
Familial Thoracic AA
MASS phenotype

24
Q

What is the optimal management of Marfan’s?

A 
Lifestyle advice
Annual review:
Echo
Beta blockers
ARBs/ACEI
Surgery (aortic root)
25
Q

What surgeries are recommened for Marfans and when?

A

Aortic root surgery is Sinus diameter >5.5cm or 5% growth per year
4cm in pregnancy

26
Q

What does Long QT syndrome cause?

A

Syncope

Sudden death

27
Q

What can induce Long QT?

A

Emotion
Exercise
Drugs

28
Q

How does Jervell Lange-Neilsens differ from Romano-ward?

A

Same (Long QT) plus congenital deafness

29
Q

Why is genotyping useful in Long QT?

A

Prediction of arrhythmia
Prognosis
Lifestyle
Treatment

30
Q

Brugada syndrome appears as what?

A

RBBB

V1-3 ST elevation

31
Q

What is the prevalence of hypertrophic cardiomyopathy?

A

1/500

32
Q

Earlier diagnosis of Hypertrophic Cardiomyopathy increases what?

A

Likelihood of mortality

33
Q

Arrhythmogenic Right Ventricular Cardiomyopathy presents with what?

A

Effort induced polymorphic tachycardia (LBBB)

34
Q

Dilated cardiomyopathy presents with a history of what?

A

Pre/syncope
Arrhythmia
Arrhythmia on ECG
Family history of sudden cardiac death

35
Q

Fetal alcohol syndrome is sometimes associated with what cardiovascular problems?

A

Atrial/ventricular septal defect

36
Q

How does ARVC appear on the ECG?

A

LBBB pattern

T-wave inversion V2-3

37
Q

What should be considered in dilated cardiomyopathy if diabetes, deafness or skeletal disease occurs also?

A

Mitochondrial diorder

38
Q

Genetic testing in dilated cardiomyopathy?

A

LMNA
SCN5A
Dystrophin
Sarcomere

39
Q

What is cascade screening?

A

ECG for first degree relatives

40
Q

Trisomies/monosomies are examples of what?

A

Chromosomal disorders

41
Q

22q11 deletion, Williams are examples of what?

A

Microdeletions

42
Q

Noonans, Marfans are examples of what?

A

Single gene disorders

43
Q

Common Teratogens

A

Rubella
Alcohol
Anti-epileptics
Maternal DM

Systems 1 (25 decks)

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