Cardiac Miscellaneous Flashcards

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1
Q

What should be done first in the setting of acute hemodynamic compromise at presentation?

What etiologies should be considered before acute systolic dysfunction from blunt cardiac trauma?

A
  • FAST evaluation
  • Common etiologies:
    • hemorrhagic shock
    • tension PTX
    • cardiac tamponade
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2
Q

What is the sensitivity of genetic testing in familial dilated cardiomyopathy (FDC)?

If performed, who should it be performed in?

A
  • 30-40% sensitivity
    • ​heterogeneous genetic disease
    • variable presentations
    • reduced penetrance
    • different modes of inheritance
  • Most clearly affected person in the family
    • mutations of 33 known genes –> account for only 40-50% of cases
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3
Q

Describe Familial Dilated Cardiomyopathy

A
  • clinical diagnosis
  • idiopathic dilated cardiomyopaty occurs in ► 2 closely related family members
  • 80-90% autosomal dominant and rarely –>
    • autosomoal recessive
    • X-linked
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4
Q

What is the next step in management?

  • 22 year old with syncope
  • PMH and SH: none
  • Tox screen: negative
  • VS: stable
  • EKG: NSR and QTc 492ms
  • Echo: normal
A
  • BB’s (first line)
  • Genetic screening
    • important to identify a LQTS mutation to allow for risk stratification and therapeutic decisions and
    • evaluate family members to identify silent carriers
  • Lifestyle changes should also be implemented
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5
Q

What is the sensitivity of genetic testing in LQTS?

A

75% sensitivity

  • typically autosomal dominant + variable penetrance
  • subdivided into 15 types based on causative gene
  • can help with:
    • diagnosis
    • screening at-risk family members
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6
Q

What is the genetic or clinical screening recommendation for HCM?

A

all first-degree family members of patients with HCM in those with unrecognized disease

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7
Q

What determines the interval for clinical screening for HCM in patient’s with a 1st degree family member with HCM?

A

Genotype of the patient

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8
Q

What is the sensitivity of genetic testing for Marfan’s syndrome?

A

95% sensitivity

  • Autosomal dominant inheritance pattern
  • mutations in the FBN1 gene
  • not necessary for confirming diagnosis in index case
  • can be helpful for other family members who need to be screened
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9
Q

What is the recommendation for genetic testing?

  • HCM diagnosed clinically
  • genetic testing of index patient is negative
A

no identifiable pathogenic mutation in index patient –>

no indication for futher genetic testing of other family members –>

repeat Echo testing in 5 years

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10
Q

What is a dreaded side effect of Thalidomide or Lenalidomide for treatment of multiple myeloma?

A

VTE - increased risk

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11
Q

What is a major physiologic change that occurs in pregnancy?

A

50% increase in CO

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12
Q

What hemodynamic change will occur in the 3rd trimester?

  • 29 yer old with h/o tricuspid atresia and looking to become pregnant
  • PMH: Fontan procedure years ago
A

LVEF will decrease

  • pregnant women with structural heart disease may have a reduced cardiac reserve
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13
Q

What cardiac hemodynamic changes are seen in pregnancy?

A
  • Increased:
    • Cardiaco Output
    • Stroke Volume
    • LV mass
    • E/E’ ratio
  • Decreased:
    • LVEF
    • fractional shortening
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14
Q

What is the recommended monitorig in patients receiving androgen-deprivation therapy?

A

every 3-6 months

  • first effects of androgen-depreciation therapy typically occur in this time frame
  • BP, lipids and fasting glucose should be assessed
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