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Medical Genetics I > Cardio Genetic Testing > Flashcards

Cardio Genetic Testing Flashcards

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1
Q

What testing would I use in each of the following scenarios?

  • structural heart disease w/ extracardiac manifestations
  • structural heart disease w/ no extracardiac manifestations
  • cardiac disease of the myocardium
  • cardiac disease with EGC abnormalities/arrhythmia
A
  • chromosomal (syndromes)
  • chromosomal and sequencing (structural)
  • cardiomyopathy sequencing
  • channelopathy sequencing
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2
Q

What are some of the things we look for on the family hx in cardio?

A
  • CHD, heart surgeries or need for heart surgeries, pacemakers or ICD
  • syncope (particularly w/ exertion), seizures, sudden death, SIDS, stillbirths, miscarriages
  • unexplained drownings and/or car accidents
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3
Q

What is involved in the cardiac work-up for the physical exam (before the echo is ordered)?

A
  • 4 ex-BP
  • pre-/post-ductal sats
  • 12 or 15-lead ECG
  • chest x-ray
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4
Q

What cardiac features are associated w/ Turner syndrome?

A
  • left-sided obstructive lesions: aortic stenosis/BAV, coarctation, HLHS
  • partially anomalous pulmonary veins
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5
Q

What percent of neonates w/ HLHS have a syndrome? What percent have a CMA finding of unknown significance?

A

10%, 25%

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6
Q

Put the following in order from least to greatest of the survival rate based on the result of a CMA ordered for HLHS: VUS, Normal, Abnormal

A

Abnormal, Normal, VUS

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7
Q

What is the risk of CHD in all live births?

A

1% (most common birth defect in live births)

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8
Q

What is the recurrence risk with a sibling or parent w/ CHD? Left sided obstructive lesions? 2nd degree relative? 3rd degree relative?

A

2-5%, 8-19%, 1-2%, 1%

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9
Q

What is the most common congenital heart defect?

A

BAV

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10
Q

What are individuals who have BAV at risk for over time?

A

progressive aortic valve disease and aortic root aneurysm

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11
Q

What is recommended for the relatives of an individual with BAV?

A

evaluation of all 1st degree relatives

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12
Q

Mutations in what gene cause aortic valve disease?

A

NOTCH1

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13
Q

What is the diagnostic yield of exome for infants w/ non-syndromic CHD?

A
  • 2% w/ identifiable LP mutation
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14
Q

Mutations in what gene account for ~11% of Shone complex cases?

A

MYH6

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15
Q

Mutations in what gene account for ~2% of ToF cases?

A

FLT4

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16
Q

What is the diagnostic yield for non-syndromic CHD when analyzing the non-coding regions of the genome for de novo variants?

A

8%

17
Q

What are 4 considerations of neonatal DCM?

A
  • rare
  • could be due to syndrome w/ mild extracardiac manifestations
  • can be genetic/heritable
  • can be idiopathic
18
Q

What is the diagnostic yield for genetic testing in pediatric cardiomyopathy?

A
  • ARVC: ~80%
  • HCM: ~70%
  • RCM: ~60%
  • DCM: ~30%
  • LVNC: ~10%
19
Q

What are some diseases/genes associated w/ syndromic cardiomyopathy?
(2 glycogen storage, 1 lysosomal storage, 2 mito, 2 neuromuscular)

A 
Glycogen storage
- HCM w/ WPW (PRKAG2)
- Pompe (GAA)
Lysosomal storage
- Fabry (GLA)
Mito
- Friedreich Ataxia (FXN)
- KSS (mtDNA deletions)
Neuromuscular
- Emery-Dreifuss (LMNA)
- Duchenne/Becker (DMD)
20
Q

What 5 genes are responsible for a lot of non-syndromic cardiomyopathy?

A
  • TTN (20-30%)
  • LMNA (5%)
  • MYH7 (5%)
  • TNNT2 (3%)
  • SCN5A (3%)
21
Q

What is congenital long QT syndrome?

A

delayed repolarization

22
Q

What are 3 of the genes that are associated with long QT and what do they have in common?

A

KCNQ1, KCNH2, SCN5A –> all ion channels

23
Q

What is torsades de pointes?

A

predisposition to lethal ventricular arrhythmias

24
Q

What are the 5 cardiac channelopathies?

A

Long QT, Brugada, Short QT, CPVT, Idiopathic VF

25
Q

True or False: you need to have a strong index of suspicion prior to ordering testing for channelopathies

A

True

26
Q

What is the diagnostic yield of gene panel testing for long QT?

A

up to 75%

Note: diagnostic yield depends on the channelopathy

Medical Genetics I (18 decks)

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