Whole exome sequencing in patients with Idiopathic Ventricular Fibrillation and familial Atrial Fibrillatio

Completed

Conditions: atrial fibrillation of unknown origin
life-threatening ventricular rythm disorder of unknown origin
10007510

Registration Number: NL-OMON42277

Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 70

Inclusion Criteria

Patients with iVF:
All documented patients with:
• A sudden cardiac arrest with initial rhythm of VF.
• Who were diagnosed with iVF after careful phenotyping and exclusion of all structural or primary electrical cardiac disease.
• In whom regular genetic testing has not detected a known gene mutation associated with the occurrence of VF. ;Patients with (familial) lone AF
• Patients with at least 1 episode of documented AF
• No present structural or systemic cause for AF, excluded by past medical history, anamnesis, physical examination, laboratory results, electrocardiogram, X-thorax and echocardiography
• <60 years of age at the time of the first presentation of AF
• Who have at least 1 first degree family member with *lone* atrial fibrillation.

Exclusion Criteria

• Patients not capable of giving inform consent
• <18 years
• Objection to the reporting of unsolicited findings in category A

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The detection of the underlying genetic cause of patients with IVF and fAF by:<br /><br><br /><br>1. The evaluation of the genetic burden of pathogenic mutations in a diagnostic<br /><br>panel of 212 cardiomyopathy genes.<br /><br>2. The detection of novel genes/genetic factors responsible for IVF and fAF.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>1. The correlation of the presence of gene defects and response to catheter<br /><br>ablation in AF patients.<br /><br>2. The understanding of the pathophysiological mechanism and disease pathways<br /><br>of iVF and familial lone AF with functional studies using the extensive UMCU<br /><br>network with collaboration of the departments of biostatistics, medical<br /><br>physiology, experimental cardiology and the Hubrecht institute. </p><br>