ACM Arrhythmogenic cardiomyopathy
Conditions
Interventions
Harvesting one skin punch biopsy (diameter 6mm) from the inner side of the
upper arm under local anesthesia. Blood samples will be collected from
patients. If a heart transplant has been performed a
Sponsors
Universitair Medisch Centrum Groningen
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: • A minimum age of 18. • Clinically diagnosed with ACM. • Genetically confirmed mutation in one of the ACM associated genes. • Of adequate communication. • Informed consent is obtained.
Exclusion criteria
Exclusion criteria: • Other aetiology of heart failure other than ACM. • A primary non-pathogenic mutation in one of the ACM associated genes • A secondary mutation in another ACM associated gene. • Extensive skin disorder precluding a biopsy from unaffected skin area. • Known allergy for local anasthetics. • Informed consent can, for whatever reason, not be obtained.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Compare the typical ACM phenotype in patient derived iPSC-cardiac tissues to the phenotype of genetically altered standard human embryonic stem cell line (commercially available) H9-derived cardiac tissues, under several environmental situations. The constant factor between the two parameters is an identical mutation in an ACM associated gene. The variable factor compromises an entirely different genomic machinery. The control group will consist of genetically unaltered H9-derived cardiac tissues and genetically repaired patient-derived iPSC-cardiac tissues. After exposure to environmental factors, tissues will be examined for typical ACM associated characteristics. Immunohistochemistry will be performed to map the integrity of the desmosome as well as other potential proteins. | — |
Countries
Netherlands
Outcome results
None listed