Arrhythmogenic Cardiomyopathy [26 genes]

Displasia arritmogénica de VD

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 its presence is associated with a significant risk of sudden death, especially in young subjects.

The prevalence of the disease was estimated to be 1 in 5,000 individuals.

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 in carriers.
  • 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 likely causal mutation of the disease in a patient under suspicion of arrhythmogenic cardiomyopathy is variable, depending on factors such as geographic location. It is generally around 50%-60%. It is common to find more than one probably pathogenic mutation.

Request study Informed consent
Steps to follow
Steps to follow

How to order

1. Download & fill out

Please cover as many fields as possible in both documents

2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

Please pack the sample in a way to prevent leakage

4. Send the sample & the request

Please schedule the delivery for Mon–Thur: 8am – 5pm

5. Result: the report

Via: Client Site HIC / Client Site Imegen / Certified email

Ask for information
Solicita información de

Arrhythmogenic Cardiomyopathy

  • *

Turnaround time (TAT): 4 weeks

Ref. S-201906392

Arrhythmogenic Cardiomyopathy: View panel

  • This panel is indicated as the 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.
  • It includes all desmosomal genes, 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.

  • DES
  • DSC2
  • DSG2
  • DSP
  • FLNC
  • JUP
  • PKP2
  • PLN
  • TMEM43
  • CDH2
  • CTNNA3
  • LMNA
  • RYR2
  • CASQ2*
  • CTNNA1*
  • CTNNB1*
  • EMD*
  • ILK*
  • ISM2*
  • PERP*
  • PKP4*
  • PPP1R13L*
  • RBM20*
  • SCN5A*
  • TGFB3*
  • TTN*

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Related panels
Cardiomyopathies General Panel [204 genes]

Panel that include arrhythmogenic cardiomyopathy genes

Cardiomyopathies, Arrhythmias, and Sudden Death General Panel [251 genes]

Panel that include arrhythmogenic cardiomyopathy genes

Cardiovascular Diseases General Panel [405 genes]

Panel that include arrhythmogenic cardiomyopathy genes

References

  • Charron P, Arad M, Monserrat L, et al. Genetic counselling and testing in cardiomyopathies: A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2010;31(22):2715-2728.
  • Marcus FI, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/Dysplasia: Proposed modification of the task force criteria. Circulation. 2010;121(13):1533-1541.
  • Rapezzi C, et al. Diagnostic work-up in cardiomyopathies: Bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2013;34(19):1448-1458.

This site is registered on wpml.org as a development site.