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Arrhythmogenic Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia
17 genes

Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disease characterized by a progressive atrophy of the cardiac muscle, which is replaced by fibroadipose tissue, leading to clinical ventricular dysfunction and to the development of malignant cardiac arrhythmias. Although the disease has been traditionally known as right ventricular arrhythmogenic cardiomyopathy/dysplasia, there can be a concomitant or predominant compromise of the left ventricle. Clinical criteria have been defined for the disease, and the presence of a pathogenic mutation is one of them. Disease detection is important, since it is associated with a significant risk of sudden death, especially in young subjects. The prevalence of the disease is estimated in 1 in 5,000 individuals.

ArrhythmogenicCardiomyopathy Arrhythmogenic Cardiomyopathy
  • The genetic test is indicated upon suspicion of the disease.
  • It is part of the diagnostic criteria of the disease as well as an important tool for differential diagnosis.
  • A correct diagnosis of the disease allows for appropriate risk stratification. In addition, the identification of certain types of mutations in some genes provides prognostic information.
  • The test has a predictive value for the disease when a pathogenic mutation is found. It is very important for genetic counseling and useful for familial monitoring. It allows identifying the carriers at risk of developing the disease, who must follow appropriate clinical monitoring. It is worth noting that the disease has variable expressivity and penetration, with the presence of additional genetic and/or environmental factors being important in many cases.
The probability of detecting a mutation probably causing the disease in a patient under suspicion of arrhythmogenic cardiomyopathy is variable, depending on factors such as geographic location. Generally it is around 50%-60%. It is common to find more than one probably pathogenic mutation.

Arrhythmogenic Cardiomyopathy Panel

This panel is indicated as a first diagnostic approach upon clinical suspicion of arrhythmogenic cardiomyopathy (patients with possible or borderline diagnosis). It should also be requested in cases with an established diagnosis of the disease (in case diagnostic criteria are met) in order to facilitate the familial study.

All desmosomal genes are included in it, as well as other priority genes that have been clearly associated with the disease. Secondary and candidate genes gathered from a systematic literature review are also included.


Notes on Genes

Priority Genes: These genes include >70% of the mutations that have been previously associated with the development of hypertrophic cardiomyopathy and/or their testing is recommended by the guidelines. Secondary genes: Other genes related to the disease. *Candidate genes: With no evidence, but likely to be related to the phenotype.