Mayo AVC Registry and Biobank

 Arrhythmogenic Right Ventricular Cardiomyopathy / Posted 3 weeks ago

Arrhythmogenic ventricular cardiomyopathy (AVC) is a genetic condition which affects the heart and can lead to heart failure and rhythm problems, of which, sudden cardiac arrest or death is the most tragic and dangerous. Diagnosis and screening of blood-relatives is very difficult as the disease process can be subtle, but sufficient enough, so that the first event is sudden death.

The Mayo Clinic AVC Registry is a collaboration between Mayo Clinic, Rochester, USA and Papworth Hospital, Cambridge University Hospitals, Cambridge, UK. The investigators aim to enroll patients with a history of AVC or sudden cardiac death which may be due to AVC, from the US and UK. Family members who are blood-relatives will also be invited, including those who do not have the condition. Data collected include symptoms, ECG, echocardiographic, MRI, Holter, loop recorder, biopsies, exercise stress testing, blood, buccal and saliva samples.

Objectives of the study:

  1. Discover new genes or altered genes (variants) which cause AVC
  2. Identify biomarkers which predict (2a) disease onset, (2b) disease progression, (2c) and the likelihood of arrhythmia (ventricular, supra-ventricular and atrial fibrillation)
  3. Correlate genotype with phenotype in confirmed cases of AVC followed longitudinally using clinical, electrocardiographic and imaging data.
  4. Characterize desmosomal changes in buccal mucosal cells with genotype and validate with gold-standard endomyocardial biopsies
  • Inclusion Criteria : Ages Eligible for Study: Child, Adult, Older Adult Sexes Eligible for Study: All Accepts Healthy Volunteers: Yes
    • Patients with a clinical diagnosis of Arrhythmogenic Ventricular Cardiomyopathy (AVC) or suspected AVC by 2010 Task Force Criteria
    • Patient with arrhythmogenic cardiomyopathy
    • Patients with left dominant arrhythmogenic left ventricular cardiomyopathy
    • Patients with familial dilated cardiomyopathy with a propensity for arrhythmia and/or evidence of cutaneous involvement, that is suggestive of AVC phenotype
    • Patients with phenocopies which may represent early AVC (myocarditis, sarcoidosis, inflammatory cardiomyopathies, outflow tract tachycardias and Brugada pattern)
    • Family members of probands with AVC
    • Patients who have a known pathogenic variant for AVC but do not currently meet 2010 Task Force Criteria (ie genotype positive, phenotype negative)
    • Capacity to provide written consent for genetic and biobank aspects
  • Exclusion Criteria :
    • Hypertrophic cardiomyopathy
    • Ischemic cardiomyopathy
    • Biopsy proved cardiac amyloidosis
    • Inability or unwillingness to provide a written consent form
  • Study end date : 31/12/2031
  • Wales-Based Study Contact : Please speak to your clinician
  • Principal Investigator : Andrew A Grace, PhD FRCP FHRS

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