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
DES EMD HCN4 LAMP2 LMNA NKX2-5 PRKAG2 SCN5A TBX5 ACTC1
CACNA1D GAA GJA5 GLA GNB2 KCNJ2 MYH6 SCN1B SLC22A5 TNNI3K
TRPM4 TTR CALR* CAVIN4* DSC2* DSG2* DSP* GATA4* HFE* IRX3*
JUP* KCNE2* KCNH2* KCNK17* KCNQ1* LDB3* MYBPHL* MYH7* NPPA* PITX2*
PKP2* RYR2* SCN4B* SLMAP*

Arrhythmias and Sudden Death without Structural Cardiopathy General Panel [90 genes]: this panel is mainly oriented at diagnosing of phenotypes that present ventricular arrhythmias as a primary manifestation of the disease without apparent structural heart disease and not clearly defined phenotype.

It is intended for those individuals whose clinical or anatomopathological study does not show structural alterations, and would be the testing of choice in cases of sudden death with negative autopsy. It should be especially considered in patients with personal or family history of sudden death, subjects with a history of syncope of undetermined origin, or individuals with idiopathic ventricular fibrillation without structural heart disease.

Study requisition form
Informed consent

Cardiomyopathies, Arrhythmias, and Sudden Death General 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 general 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
DES EMD HCN4 LAMP2
LMNA NKX2-5 PRKAG2 SCN5A
TBX5 ACTC1 CACNA1D GAA
GJA5 GLA GNB2 KCNJ2
MYH6 SCN1B SLC22A5 TNNI3K
TRPM4 TTR CALR* 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 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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