Catecholaminergic

Catecholaminergic polymorphic ventricular tachycardia panel

Catecholaminergic Polymorphic Ventricular Tachycardia panel [10 genes]: this panel includes the two genes associated with the development of catecholaminergic polymorphic ventricular tachycardia and another group of genes associated with phenotypes that constitute differential diagnoses of this entity, since they present bidirectional or polymorphic ventricular arrhythmia.

Informed consent
CASQ2KCNJ2RYR2ANK2CALM1CALM2CALM3TECRLTRDNSCN5A*

Ventricular arrhythmia and sudden death without structural heart disease 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

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 includes the two genes associated with the development of catecholaminergic polymorphic ventricular tachycardia and another group of genes associated with phenotypes that constitute differential diagnoses of this entity, since they present bidirectional or polymorphic ventricular arrhythmia.

Informed consent
CASQ2KCNJ2RYR2ANK2
CALM1CALM2CALM3TECRL
TRDNSCN5A*

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

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.
  • Patients diagnosed with or under diagnostic suspicion of catecholaminergic polymorphic ventricular tachycardia: probands or relatives who, having a structurally normal heart and ECG, develop bidirectional ventricular tachycardia or polymorphic extrasystoles induced by catecholamines or exercise.
  • It might be considered for subjects with personal or familial history of sudden death or syncope of unknown origin.
  • Subjects with ventricular fibrillation of unknown origin.
  • Relatives of patients with genetic diagnosis of catecholaminergic polymorphic ventricular tachycardia.
  • HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Priori SG et al. Heart Rhythm. 2013 Dec;10(12):1932-63.
  • HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Ackerman MJ, Priori SG, et al. Europace. 2011 Aug;13(8):1077-109.

The test yield is high in patients with a clearly established clinical diagnosis is around 70%-80%. Clinical specificity is 95%. The predictive value of the test (probability of carriers developing the disease throughout their life) is 80%. Within this group, it is estimated that 30% of subjects may present sudden death in the absence of treatment.

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