Cardiac Miscellaneous Flashcards
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?
- FAST evaluation
- Common etiologies:
- hemorrhagic shock
- tension PTX
- cardiac tamponade
What is the sensitivity of genetic testing in familial dilated cardiomyopathy (FDC)?
If performed, who should it be performed in?
-
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
Describe Familial Dilated Cardiomyopathy
- clinical diagnosis
- idiopathic dilated cardiomyopaty occurs in ► 2 closely related family members
- 80-90% autosomal dominant and rarely –>
- autosomoal recessive
- X-linked
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
- 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
What is the sensitivity of genetic testing in LQTS?
75% sensitivity
- typically autosomal dominant + variable penetrance
- subdivided into 15 types based on causative gene
- can help with:
- diagnosis
- screening at-risk family members
What is the genetic or clinical screening recommendation for HCM?
all first-degree family members of patients with HCM in those with unrecognized disease
What determines the interval for clinical screening for HCM in patient’s with a 1st degree family member with HCM?
Genotype of the patient
What is the sensitivity of genetic testing for Marfan’s syndrome?
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
What is the recommendation for genetic testing?
- HCM diagnosed clinically
- genetic testing of index patient is negative
no identifiable pathogenic mutation in index patient –>
no indication for futher genetic testing of other family members –>
repeat Echo testing in 5 years
What is a dreaded side effect of Thalidomide or Lenalidomide for treatment of multiple myeloma?
VTE - increased risk
What is a major physiologic change that occurs in pregnancy?
50% increase in CO
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
LVEF will decrease
- pregnant women with structural heart disease may have a reduced cardiac reserve
What cardiac hemodynamic changes are seen in pregnancy?
- Increased:
- Cardiaco Output
- Stroke Volume
- LV mass
- E/E’ ratio
- Decreased:
- LVEF
- fractional shortening
What is the recommended monitorig in patients receiving androgen-deprivation therapy?
every 3-6 months
- first effects of androgen-depreciation therapy typically occur in this time frame
- BP, lipids and fasting glucose should be assessed
