Ventricular arrhythmia and sudden death without structural heart disease global panel

Ventricular arrhythmia and sudden death without structural heart disease global panel
[90 genes]

It includes priority genes with a clear association with these diseases, secondary genes where the evidence is lower, and candidate genes gathered from a systematic literature review

Study requisition form
Informed consent
CACNA1CCALM1CALM2CALM3CASQ2DESDSC2DSG2DSPEMD
FLNCJUPKCNE1KCNE2KCNH2KCNJ2KCNQ1LMNAMYH7NKX2-5
PKP2PLNPRKAG2RYR2SCN5ATNNC1TNNI3TNNT2ACTC1AKAP9
ANK2CACNA1DCACNA2D1CACNB2CAV3FHL2GAAGJA5GLAGNB2
GPD1LHCN4IRX3KCNA5KCND3KCNE3KCNE5KCNJ5KCNJ8LAMP2
MYH6PITX2SCN1BSCN2BSCN4BSLC22A5SNTA1TBX5TECRLTMEM43
TNNI3KTRDNTRPM4TTRABCC9*ANK3*CAVIN1*CAVIN4*CDH2*FGF12*
GATA5*GJA1*GREM2*KCND2*KCNK17*KCNK3*LDB3*MYBPHL*NKX2-6*NOS1AP*
NPPA*PPA2*RANGRF*SCN10A*SCN3B*SLMAP*SYNE2*TMEM175*TPM1*ZFHX3*
Ventricular arrhythmia and sudden death without structural heart disease global panel [90 genes]

It includes priority genes with a clear association with these diseases, secondary genes where the evidence is lower, and candidate genes gathered from a systematic literature review.

Study requisition form
Informed consent
CACNA1CCALM1CALM2CALM3
CASQ2DESDSC2DSG2
DSPEMDFLNCJUP
KCNE1KCNE2KCNH2KCNJ2
KCNQ1LMNAMYH7NKX2-5
PKP2PLNPRKAG2RYR2
SCN5ATNNC1TNNI3TNNT2
ACTC1AKAP9ANK2CACNA1D
CACNA2D1CACNB2CAV3FHL2
GAAGJA5GLAGNB2
GPD1LHCN4IRX3KCNA5
KCND3KCNE3KCNE5KCNJ5
KCNJ8LAMP2MYH6PITX2
SCN1BSCN2BSCN4BSLC22A5
SNTA1TBX5TECRLTMEM43
TNNI3KTRDNTRPM4TTR
ABCC9*ANK3*CAVIN1*CAVIN4*
CDH2*FGF12*GATA5*GJA1*
GREM2*KCND2*KCNK17*KCNK3*
LDB3*MYBPHL*NKX2-6*NOS1AP*
NPPA*PPA2*RANGRF*SCN10A*
SCN3B*SLMAP*SYNE2*TMEM175*
TPM1*ZFHX3*
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.

It includes diseases that can cause ventricular arrhythmias and sudden death as their first clinical manifestation. Therefore, channelopathies and some genes associated with cardiomyopathies but capable of producing ventricular arrhythmias without any apparent cardiac involvement are included.

  • 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.

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