Cardiac Conduction

Cardiac conduction disease

Cardiac conduction disease panel [44 genes]: this panel is indicated as a first diagnostic approach to a patient with cardiac conduction disorders, especially when there is family history (usually frequent history of pacemaker implantation in several members of the family) and in younger patients where there is no heart disease to explain the disorder.

The panel includes priority genes clearly related to the disease, some of which are also associated with other cardiomyopathies and channelopathies. Other secondary genes that have been associated with the disease sporadically and candidate genes arising from a systematic review of the literature are included.

Informed consent
DESEMDHCN4LAMP2LMNANKX2-5PRKAG2SCN5ATBX5ACTC1
CACNA1DGAAGJA5GLAGNB2KCNJ2MYH6SCN1BSLC22A5TNNI3K
TRPM4TTRCALR*CAVIN4*DSC2*DSG2*DSP*GATA4*HFE*IRX3*
JUP*KCNE2*KCNH2*KCNK17*KCNQ1*LDB3*MYBPHL*MYH7*NPPA*PITX2*
PKP2*RYR2*SCN4B*SLMAP*

Arrhythmias general panel [251 genes]: este panel está principalmente orientado al diagnóstico de cuadros clínicos donde no es posible establecer un fenotipo claramente definido, pero cursan con arritmias cardíacas como principal manifestación.

Está destinado principalmente a individuos con antecedentes personales o familiares de muerte súbita, individuos con historia previa de síncope de origen indeterminado o individuos con fibrilación ventricular de origen indeterminado que cumplan las características mencionadas.

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 to a patient with cardiac conduction disorders, especially when there is family history (usually frequent history of pacemaker implantation in several members of the family) and in younger patients where there is no heart disease to explain the disorder.

The panel includes priority genes clearly related to the disease, some of which are also associated with other cardiomyopathies and channelopathies. Other secondary genes that have been associated with the disease sporadically and candidate genes arising from a systematic review of the literature are included.

Informed consent
DESEMDHCN4LAMP2
LMNANKX2-5PRKAG2SCN5A
TBX5ACTC1CACNA1DGAA
GJA5GLAGNB2KCNJ2
MYH6SCN1BSLC22A5TNNI3K
TRPM4TTRCALR*CAVIN4*
DSC2*DSG2*DSP*GATA4*
HFE*IRX3*JUP*KCNE2*
KCNH2*KCNK17*KCNQ1*LDB3*
MYBPHL*MYH7*NPPA*PITX2*
PKP2*RYR2*SCN4B*SLMAP*

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 study confirms the clinical suspicion, and is itself an important tool in the differential diagnosis of the disease.
  • The proper and correct diagnosis of the disease allows risk stratification. Some mutations in certain genes (for example LMNA) might provide prognosis information about the disease.
  • This test has a predictive value of the disease when a pathogenic mutation is detected:
    • It might be useful in genetic counseling.
    • It allows detecting carriers at risk that should be under adequate clinical monitoring.
  • The detection of non-carriers constitutes a cost-effective strategy, as they present a similar risk as the general population.
  • 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.
  • Rapezzi C, Arbustini E, Caforio A, 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 finding a pathogenic mutation when a patient presents cardiac conduction disorders has not been clearly established. However, the probability could be higher in cases where there is a family history of these disorders, and when it occurs in young subjects without a clear cause.

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