Non-compaction

Non-compaction Cardiomyopathy

Non-compaction cardiomyopathy panel [48 genes]: this panel is indicated as a first diagnostic approach in patients with a clear phenotype of non-compaction cardiomyopathy. It is a panel designed specifically for this pathology.

It includes priority genes, which are genes that have been clearly associated with the disease. Some of them are also associated with other cardiomyopathies. Genes that have been sporadically associated with the disease are listed as secondary genes, and candidate genes gathered from a systematic literature review are also included.

Informed consent
ACTC1 HCN4 MYBPC3 MYH7 NKX2-5 TAZ TBX20 TTN ACTN2 DMD
DNAJC19 DTNA FHL1 FHOD3 LDB3 LMNA MYL2 PLN PRDM16 RYR2
TNNI3 TNNT2 TPM1 AKT1* ANKRD1* BAG3* CASQ2* CDH2* CSRP3* DSP*
FLNC* JARID2* KCNH2* KCNQ1* KRAS* LAMP2* MIB1* MLYCD* MYH6* MYL3*
NNT* NONO* NOTCH1* PTPN11* RBM20* SPEG* TNNC1* TRPM4* WT1*

Cardiomyopathies general panel [204 genes]: it includes 204 genes covering the whole presentation spectrum of cardiomyopathies (hypertrophic, dilated, restrictive, and non-compaction), also including RASopathies, storage diseases, and congenital heart diseases.

It includes priority genes that have a clear association with the development of these diseases. It also includes secondary genes, which have sporadically been associated to them, as well as candidate genes gathered from a systematic review of the literature.

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 in patients with a clear phenotype of non-compaction cardiomyopathy. It is a panel designed specifically for this pathology.

It includes priority genes, which are genes that have been clearly associated with the disease. Some of them are also associated with other cardiomyopathies. Genes that have been sporadically associated with the disease are listed as secondary genes, and candidate genes gathered from a systematic literature review are also included.

Informed consent
ACTC1 HCN4 MYBPC3 MYH7
NKX2-5 TAZ TBX20 TTN
ACTN2 DMD DNAJC19 DTNA
FHL1 FHOD3 LDB3 LMNA
MYL2 PLN PRDM16 RYR2
TNNI3 TNNT2 TPM1 AKT1*
ANKRD1* BAG3* CASQ2* CDH2*
CSRP3* DSP* FLNC* JARID2*
KCNH2* KCNQ1* KRAS* LAMP2*
MIB1* MLYCD* MYH6* MYL3*
NNT* NONO* NOTCH1* PTPN11*
RBM20* SPEG* TNNC1* TRPM4*
WT1*

It includes 204 genes covering the whole presentation spectrum of cardiomyopathies (hypertrophic, dilated, restrictive, and non-compaction), also including RASopathies, storage diseases, and congenital heart diseases.

It includes priority genes that have a clear association with the development of these diseases. It also includes secondary genes, which have sporadically been associated to them, as well as candidate genes gathered from a systematic review of the literature.

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 progression of the disease may present deteriorating cardiac function with the development of cardiac insufficiency, as well as malignant arrhythmias, and thus early diagnosis is important. Genetic testing is useful since:

  • It is able to identify the causative mutation, confirming the diagnosis of the disease. Due to the clinical heterogeneity with much overlap between different phenotypes, it is very important for differential diagnosis.
  • When a pathogenic mutation is detected, it can be used as a predictive test. It is useful in genetic counseling, since it can detect carriers at risk who should undergo adequate clinical monitoring.
  • Rapezzi C, 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.
  • 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.

The probability of identifying a likely causative mutation in a patient under suspicion of non-compaction cardiomyopathy varies due to the clinical heterogeneity of the disease. The diagnostic yield is higher in cases with a clear phenotype and family history of the disease. It is generally around 50%.

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