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Atrial Fibrillation
Atrial Fibrillation panel [46 genes]: the panel includes genes with clinical and functional evidence of association with familial atrial fibrillation. Many of the included genes are associated with defined electrophysiological phenotypes or even structural heart diseases in which the development of atrial fibrillation may be the first or the main manifestation of the disease.
| ACTC1 | EMD | GATA4 | GJA5 | GNB2 | HCN4 | IRX3 | KCNA5 | KCND3 | KCNE1 |
| KCNE2 | KCNE3 | KCNE5 | KCNJ2 | KCNQ1 | LMNA | NKX2-5 | NKX2-6 | NPPA | PITX2 |
| RYR2 | SCN1B | SCN2B | SCN4B | SCN5A | TBX5 | TTR | ABCC9* | CACNB2* | GATA5* |
| GATA6* | GJA1* | GREM2* | JPH2* | KCND2* | KCNH2* | KCNJ5* | KCNJ8* | KCNK3* | MYBPHL* |
| SCN3B* | TNNI3* | TNNI3K* | TNNT2* | TPM1* | ZFHX3* |
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.
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.
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).
The panel includes genes with clinical and functional evidence of association with familial atrial fibrillation. Many of the included genes are associated with defined electrophysiological phenotypes or even structural heart diseases in which the development of atrial fibrillation may be the first or the main manifestation of the disease.
| ACTC1 | EMD | GATA4 | GJA5 |
| GNB2 | HCN4 | IRX3 | KCNA5 |
| KCND3 | KCNE1 | KCNE2 | KCNE3 |
| KCNE5 | KCNJ2 | KCNQ1 | LMNA |
| NKX2-5 | NKX2-6 | NPPA | PITX2 |
| RYR2 | SCN1B | SCN2B | SCN4B |
| SCN5A | TBX5 | TTR | ABCC9* |
| CACNB2* | GATA5* | GATA6* | GJA1* |
| GREM2* | JPH2* | KCND2* | KCNH2* |
| KCNJ5* | KCNJ8* | KCNK3* | MYBPHL* |
| SCN3B* | TNNI3* | TNNI3K* | TNNT2* |
| TPM1* | ZFHX3* |
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.
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.
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).
- Patients with a family history of atrial fibrillation in the absence of predisposing factors such as hypertension, ischemic cardiomyopathy, structural or organic heart diseases.
- 2014 AHA/ACC/HRS guideline for the management of patients with atrial fibrillation: executive summary: a report of the American College of Cardiology/American Heart Association Task Force on practice guidelines and the Heart Rhythm Society. January CT, et al. Circulation. 2014 Dec 2;130(23):2071-104.
The probability of finding a pathogenic mutation when a patient presents atrial fibrillation has not been clearly established. The yield could be higher in cases where there is a family history of this disorder, and when it occurs in young subjects without a clear cause.
