Cardiovascular Disorders Flashcards
What organ is primarily affected in familial hypercholesteremia?
Liver
While reserved for the most severe cases, a liver transplant is often curative as the enzymes are primarily active in the liver.
What are identifying/concerning features of familial hypercholesterolemia?
Xanthomas (cholesterol deposits in the skin)
Elevated cholesterol
Increased risk for MI
How is familial hypercholesterolemia inherited?
Most commonly AD (APOB, LDLR, PCSK9), but sometimes AR
What syndrome should you suspect if there is a Coved type ST segment on an EKG?
Brugada syndrome
Brugada syndrome presents with sudden death at what age?
mean of 40y
What syndrome would you suspect if someone presents with changes in the ST segment of nan EKG, ventricular fibrillation, and nocturnal gasping?
Brugada
What does CADASIL stand for?
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CADASIL is considered to be the leading hereditary cause of what?
Stroke
How is CADASIL inherited?
What gene?
AD, NOTCH3
What are distinguishing features that might make you suspicious of CADASIL?
Stroke Migranes with aura Leukoencephalopathy (changes in the white matter of the brain) Mood disturbances Onset 35-55y
Presentation of a prolonged QT interval and syncope points to what syndrome?
What is a common presentation of this syndrome in families?
Long QT syndrome
sudden death, particularly in adrenergic states
Presentation of an elongated QT interval as well as congenital deafness points to what syndrome? What is the inheritance pattern?
Jervell and Lange-Nielson syndrome
AR
What are the three most common genes associated with LQTS?
Inheritance?
AD
KCNH2
KCNQ1
SCN5A
What gene is associated with Jervell and Lange-Nielsen syndrome?
KCNQ1 or KCNE1
If a person presents with prolonged QT interval, ID, autism and structural changes to the heart, what syndrome would we suspect?
Timothy syndrome
