Arrhythmogenic

Arrhythmogenic Cardiomyopathy

Right ventricular arrhythmogenic dysplasia

Arrhythmogenic cardiomyopathy panel [26 genes]: 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.

Informed consent
DESDSC2DSG2DSPFLNCJUPPKP2PLNTMEM43CDH2
CTNNA3LMNARYR2CASQ2*CTNNA1*CTNNB1*EMD*ILK*ISM2*PERP*
PKP4*PPP1R13L*RBM20*SCN5A*TGFB3*TTN*

Cardiomyopathies panel [204 genes]: it includes 204 genes covering the whole presentation spectrum of cardiomyopathies (hypertrophic, dilated, restrictive, and non-compaction), also including RASopathies, storage diseases, and congenital heart diseases.

It includes priority genes that have a clear association with the development of these diseases. It also includes secondary genes, which have sporadically been associated to them, as well as candidate genes gathered from a systematic review of the literature.

Study requisition form
Informed consent

Arrhythmias global panel [251 genes]: this panel is mainly aimed at the diagnosis of cases where it is not possible to establish a clearly defined phenotype, but where cardiac arrhythmias are the main manifestation.

It is mainly intended for subjects with personal or familial history of sudden death with unknown origin or subjects with ventricular fibrillation of unknown origin that meet the above-mentioned characteristics.

Study requisition form
Informed consent

Cardiovascular diseases global panel [405 genes]: this panel includes all genes associated or potentially associated with the development of inherited cardiovascular diseases as well as genes associated with increased global/general cardiovascular risk.

It covers a group of heterogeneous diseases, and genetic testing allows for the differential diagnosis between them. It is also useful when a multigenic etiology is suspected.

It should be considered when an exhaustive study of all genes related to cardiovascular pathologies is intended, especially in cases of sudden death where clinical or pathological information is incomplete or the diagnosis is unclear.

As for research, it is an attractive alternative to the exomes because it includes both genes with proven pathogenicity and candidate genes. The study ensures maximum yield with adequate coverages (which allows for assessing structural variants, such as large deletions and duplications).

Study requisition form
Informed consent

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.

Informed consent
DESDSC2DSG2DSP
FLNCJUPPKP2PLN
TMEM43CDH2CTNNA3LMNA
RYR2CASQ2*CTNNA1*CTNNB1*
EMD*ILK*ISM2*PERP*
PKP4*PPP1R13L*RBM20*SCN5A*
TGFB3*TTN*

It includes 204 genes covering the whole presentation spectrum of cardiomyopathies (hypertrophic, dilated, restrictive, and non-compaction), also including RASopathies, storage diseases, and congenital heart diseases.

It includes priority genes that have a clear association with the development of these diseases. It also includes secondary genes, which have sporadically been associated to them, as well as candidate genes gathered from a systematic review of the literature.

Study requisition form
Informed consent

This panel is mainly aimed at the diagnosis of cases where it is not possible to establish a clearly defined phenotype, but where cardiac arrhythmias are the main manifestation.

It is mainly intended for subjects with personal or familial history of sudden death with unknown origin or subjects with ventricular fibrillation of unknown origin that meet the above-mentioned characteristics.

Study requisition form
Informed consent

This panel includes all genes associated or potentially associated with the development of inherited cardiovascular diseases as well as genes associated with increased global/general cardiovascular risk.

It covers a group of heterogeneous diseases, and genetic testing allows for the differential diagnosis between them. It is also useful when a multigenic etiology is suspected.

It should be considered when an exhaustive study of all genes related to cardiovascular pathologies is intended, especially in cases of sudden death where clinical or pathological information is incomplete or the diagnosis is unclear.

As for research, it is an attractive alternative to the exomes because it includes both genes with proven pathogenicity and candidate genes. The study ensures maximum yield with adequate coverages (which allows for assessing structural variants, such as large deletions and duplications).

Study requisition form
Informed consent
Nota genes
NOTES ON GENES
-> Priority genes: Genes where there is sufficient evidence (clinical and functional) to consider them as associated with the disease; they are included in clinical practice guidelines. -> Secondary genes: Genes related to the disease but with a lower level of evidence
or constituting sporadic cases. -> * Candidate genes: Without sufficient evidence in humans but potentially associated with the disease.

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.
  • 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.

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.

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