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General Study Notes Flashcards

1
Q

Coarctation of the aorta in a female suggests which genetic condiiton?

coarctation = narrowing

A

Turner syndrome

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2
Q

What testing should be ordered for congenital heart disease?

A
  • CMA (eg: 22q11 del)
  • multigene congenital heart panel (eg: NKX2-5)
  • karyotype (eg: Turner)
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3
Q

What is cardiomyopathy?

A

heart muscle disease
* cardio = heart
* myo = muscle
* pathy = disease

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4
Q

Catecholaminergic polymorphic
ventricular tachycardia gene

arrhythmic disorder

A

RYR2

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5
Q

arrhythmogenic right ventricular cardiomyopathy (ARVC) genes

cardiomyopathy

A

PKP2, DSP, DSC2, TMEM43, DSG2

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6
Q

Familial hypercholesterolemia genes

A

LDLR, APOB, PCSK9

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7
Q

What are the no brainers for genetic testing in the cardiac setting?

A
  • early age
  • sudden death
  • all HCM patients need to be offered genetic testing
    *
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8
Q

What genetic testing option is best for cardiomyopathies?

A

multi-gene panel

indications: early age, sudden death, HCM (100%)

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9
Q

What genetic testing should be offered for vascular/aortopathies?

A

multi-gene panel
make sure to include Marfan, LDS

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10
Q

What genetic testing should be offered for dyslipidemia?

A

multi-gene panel
1. FH panel (4 genes) if profile fits
2. larger dyslipidemia panels (~28-30 genes)

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11
Q

What genetic testing should be offered for arrythmias?

A

multi-gene panel

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12
Q

Pulmonic stenosis is associated with

A

Noonan Syndrome

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13
Q

Loeys-Dietz syndrome and aortic dissection

A
  • occurs at smaller aortic diameter than in Marfan
  • repair recommended earlier
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14
Q

LDS vascular diseae (is/is not) limited to aortic root

A

LDS vascular diseae (is/is not) limited to aortic root

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15
Q

Most common genetic mutation for DCM

A

TTN

neuromuscular implications

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16
Q

HCM genes

A
  • MYH7 (dominant negative)
  • MYBPC3 (haploinsufficent)
17
Q

ARVC

A
  • DSC2
  • AD
  • AR: + keratoderma with wooly hair
18
Q

RCM

A

no increase in mass

19
Q

CHARGE gene

20
Q

CHARGE acronym

A
  • coloboma of the eye
  • heart defects
  • atreasis choanae (nasal passage blockage)
  • R restriction of growth
  • G genital anomalies
  • E ear anomales HL
21
Q

ARVC

A
  • changes myocytes to fatty fibrous tissues
  • lads to arrythmias
  • desmosomal genes (PKP2, DS…)
22
Q

Left Ventricular Non-compaction (LVNC)

23
Q

Peripartum cardiomyopathy gene

24
Q

ACTA2 and MYH11

A

Aortopathies due to smooth muscle cell dysfunction
Deleterious variants in genes involved in muscle function causes familial thoracic aortic aneurysm and dissection (FTAAD)

Med Gen Cardio (7 decks)

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