Cardio

Question 1

What is Romano-Ward disease?
Name of Syndrome: 
Pathophys: 
Inheritence: 
Associations:

Answer 1

A Congenital Long QT Syndrome.
Pathophys: Ion channel defects -> Increase risk of Sudden Cardiac Death due to torsades de pointes.

Inheritance: Autosomal Dominant

Associations: None - pure cardio phenotype

Question 2

What is Jervell and Lange-Nielsen Syndrome? 
Name of Syndrome: 
Pathophys: 
Inheritence: 
Associations:

Answer 2

A Congenital Long QT Syndrome.
Pathophys: Ion channel defects -> Increase risk of Sudden Cardiac Death due to torsades de pointes.

Inheritance: AR

Associations: SENSORINEURAL deafness