Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases

The aim of this study is the identification of familial congenital arrhythmogenic disorders and their clinical follow-up.

Study Overview

• Status: Unknown
• Conditions: Hypertrophic Cardiomyopathy; Long QT Syndrome; Arrhythmogenic Right Ventricular Dysplasia

Detailed Description

Molecular genetic screening in patients with:

• supraventricular
• ventricular arrhythmia
• syncopes of unknown origin and/or suspicion of an arrhythmogenic origin
• family members of patients with sudden cardiac death and aborted sudden cardiac death

Examination of patients includes routine testing like electrocardiogram (ECG), sequential ECGs, exercise testing, invasive electrophysiological stimulation, cardiac magnetic resonance imaging, intravenous drug challenge for identification/exclusion of eg Brugada syndrome. Examples are patients with Long QT Syndrome, Short QT Syndrome, Brugada Syndrome, familial atrial fibrillation, WPW-syndrome, arrhythmias due to familial hypertrophic cardiomyopathy or arrhythmogenic right ventricular dysplasia. Blood samples are taken for further molecular genetic screening.

• Study Type: Observational
• Enrollment (Anticipated): 300

Contacts and Locations

• Study Contact: Name: Christian Wolpert, MD; Phone Number: +49-621-383-2206; Email: christian.wolpert@med.ma.uni-heidelberg.de
• Study Contact Backup: Name: Rainer Schimpf, MD; Phone Number: +49-621-383-2206; Email: rainer.schimpf@med.ma.uni-heidelberg.de

Study Locations

• Germany
  • Mannheim, Germany, 68167
    • Recruiting
    • University Hospital Mannheim, I. Department of Medicine
    • Contact: Christian Wolpert, MD; Phone Number: +49-621-3832206; Email: christian.wolpert@med.ma.uni-heidelberg.de
    • Contact: Rainer Schimpf, MD; Phone Number: +49-621-3832206; Email: rainer.schimpf@med.ma.uni-heidelberg.de
    • Principal Investigator: Christian Wolpert, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Consecutive patient sampling with history of syncope, aborted SCD, familial sudden cardiac death, high suspicion of familial cardiac arrhythmias.

Description

Inclusion Criteria:

• Patients with a history of syncope, abnormal ECG and suspicion of an arrhythmogenic disease
• Patients with long QT syndrome
• Patients with short QT syndrome, shortened QT intervals, borderline shortened QT intervals
• Patients with Brugada syndrome
• Patients with hypertrophic cardiomyopathy
• Patients with arrhythmogenic right ventricular dysplasia

Exclusion Criteria:

• Inability to understand study protocol

Study Plan

How is the study designed?

Collaborators and Investigators

• Sponsor: Heidelberg University
• Investigators: Study Director: Martin Borggrefe, Prof., MD, I. Department of Medicine-Cardiology

Study record dates

Study Major Dates

• Study Start: October 1, 2003
• Study Completion (Anticipated): December 1, 2011

Study Registration Dates

• First Submitted: September 14, 2005
• First Submitted That Met QC Criteria: September 14, 2005
• First Posted (Estimate): September 22, 2005

Study Record Updates

• Last Update Posted (Estimate): January 13, 2010
• Last Update Submitted That Met QC Criteria: January 12, 2010
• Last Verified: October 1, 2003

More Information

Terms related to this study

• Keywords: Hypertrophic cardiomyopathy; Long QT Syndrome; Brugada Syndrome; arrhythmogenic right ventricular dysplasia; Short QT Syndrome
• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Disease; Congenital Abnormalities; Pathological Conditions, Anatomical; Arrhythmias, Cardiac; Aortic Valve Disease; Heart Valve Diseases; Cardiac Conduction System Disease; Heart Defects, Congenital; Cardiovascular Abnormalities; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Syndrome; Hypertrophy; Cardiomyopathies; Cardiomyopathy, Hypertrophic; Long QT Syndrome; Arrhythmogenic Right Ventricular Dysplasia
• Other Study ID Numbers: 0261.5