Inherited cardiac conditions

Question 1

edv

Answer 1

`f
sv

Question 2

what is HCM and how common

Answer 2

Hypertrophic cardiomyopathy (HCM) caused by sarcomeric protein gene mutations, affects around 1 IN 500 people

Question 3

what is dilated cardiomyopathy

Answer 3

thin walls, poorly contracts, representative of heart failure. this iften caused by cytoskeletal gene muations

Question 4

on an ultrasound hows DCM

Answer 4

the heart barley contract and without valve movement wouldnt really see mucb

Question 5

importance of epislon waves on an ecg

Answer 5

Epsilon waves are the most specific and characteristic finding in arrhythmogenic right ventricular dysplasia (ARVD).

Question 6

what is ARVD and

Answer 6

Arrhythmogenic cardiomyopathy (ARVC/ALVC) – desmosome gene mutations

Question 7

a desmosomes consists of?

Answer 7

desmoplakin dimer, plakophillin, desmogelin,

Question 8

what is NAXOS?#

Answer 8

Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos.

Question 9

what is a common cause of inherited arrhythmias

Answer 9

Inherited arrhythmia (channelopathy) caused by ion channel protein gene mutations

Question 10

types of arrhythmias

Answer 10

categorized by ecg results:
long qt syndrome
brugada syndrome
cpvt catechlaminergic polymorphic ventricular tachycardia
wolf parkinson white
progressive conduction disease
idiopathic ventricular fibrillation