Primary Arrhythmias: Difference between revisions

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Primary Arrhythmias (view source)

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{{DevelopmentPhase}}
''Auteur: Louise R.A. Olde Nordkamp''


=Introduction=
''Supervisor: Arthur A.M. Wilde''


=LQTS=
'''Primary cardiac arrhythmias''' are inherited cardiac syndromes associated with sudden cardiac death in patients with structurally normal hearts. They are caused by mutations in genes primarily encoding ion channels


===Pathophysiology===
==Key features==  
===Patient characteristics===
===History===
===Physical Examination===
===Investigations===
===Differential diagnosis===
===Treatment and Follow up===
===Prognosis===


=Brugada Syndrome=
*The genetic basis for most arrhythmia syndromes is heterogeneous, which means that a given disorder may be caused by mutations in different genes.


===Pathophysiology===
*Mutations in cardiac ion channels lead to abnormal ionic current characteristics via mechanisms such as defective channel gating or reduction in sarcolemmal channel expression. This leads to the ECG features and/or arrhythmias in the inherited arrhythmia syndromes.
===Patient characteristics===
===History===
===Physical Examination===
===Investigations===
===Differential diagnosis===
===Treatment and Follow up===
===Prognosis===


=CPVT=
*It is becoming increasingly clear that treatment should take the type of gene affected into consideration (gene specific therapy).


===Pathophysiology===
*The identification of a proband with a primary cardiac arrhythmia should trigger screening of family members to identify all affected relatives (presymptomatically). However, considerable heterogeneity may exist in disease manifestation (both in severity as well as differences in disease features) among family members carrying the same mutation. In this respect, a genetic test is vital in uncovering all carriers of the genetic defect within a family.
===Patient characteristics===
===History===
===Physical Examination===
===Investigations===
===Differential diagnosis===
===Treatment and Follow up===
===Prognosis===


=Short QT Syndrome=
[[File:Genetics_cardiac_arrhythmias.jpg|thumb|left|500px|Ion channels involved in primary arrhythmia syndromes<cite>Wilde</cite>]]


===Pathophysiology===
===Patient characteristics===
===History===
===Physical Examination===
===Investigations===
===Differential diagnosis===
===Treatment and Follow up===
===Prognosis===


=DPP6 Haplotype=
 
===Pathophysiology===
 
===Patient characteristics===
 
===History===
 
===Physical Examination===
 
===Investigations===
 
===Differential diagnosis===
 
===Treatment and Follow up===
 
===Prognosis===
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
==References==
<biblio>
#Wilde pmid=16162633
</bibliio>
Retrieved from "https://www.textbookofcardiology.org/wiki/Special:MobileDiff/107...2239"

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