Congenital Heart

Congenital Heart

Congenital Heart diseases panel [114 genes]: The use of this panel should be considered:

  • In case of isolated congenital heart disease.
  • In case of syndromic congenital heart disease related to genes included in the panel.
  • In case other causes for congenital heart disease (e.g. presence of chromosomal abnormalities) have been ruled out through another method, such as SNP arrays.
Informed consent
ACTA2 ACTC1 ACVR1 ACVR2B ACVRL1 ANKRD1 B3GAT3 BMPR2 BRAF CBL
CFC1 CITED2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 CREBBP CRELD1 CHD7
DTNA EFEMP2 EHMT1 ELN ENG EP300 EVC EYA4 FBN1 FBN2
FLNA FOXC1 FOXF1 FOXH1 FOXP1 GAA GATA4 GATA5 GATA6 GDF1
GJA1 GJA5 HAND2 HRAS IRX4 ISL1 JAG1 KANSL1 KCNA5 KCNJ8
KCNK3 KMT2D KRAS LEFTY2 MAP2K1/MEK1 MAP2K2 MCTP2 MED12 MED13L MFAP5
MIB1 MYBPC3 MYH11 MYH6 MYH7 MYLK NEXN NF1 NKX2-5 NKX2-6
NODAL NOTCH1 NOTCH2 NOTCH3 PHP4 NRAS PDGFRA PITX2 PLOD1 PRKG1
PTPN11 RAF1 RASA1 RASA2 RIT1 SALL4 SHOC2 SKI SLC2A10 SMAD1
SMAD3 SMAD4 SMAD6 SMAD9 SOS1 SOS2 SPRED1 TAB2 TBX1 TBX20
TBX5 TDGF1 TFAP2B TGFB2 TGFB3 TGFBR1 TGFBR2 TNNI3 TNNI3K TOPBP1
UPF3B ZDHHC9 ZFPM2 ZIC3

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

The use of this panel should be considered:

  • In case of isolated congenital heart disease.
  • In case of syndromic congenital heart disease related to genes included in the panel.
  • In case other causes for congenital heart disease (e.g. presence of chromosomal abnormalities) have been ruled out through another method, such as SNP arrays.
Informed consent
ACTA2 ACTC1 ACVR1 ACVR2B
ACVRL1 ANKRD1 B3GAT3 BMPR2
BRAF CBL CFC1 CITED2
COL1A1 COL1A2 COL3A1 COL5A1
COL5A2 CREBBP CRELD1 CHD7
DTNA EFEMP2 EHMT1 ELN
ENG EP300 EVC EYA4
FBN1 FBN2 FLNA FOXC1
FOXF1 FOXH1 FOXP1 GAA
GATA4 GATA5 GATA6 GDF1
GJA1 GJA5 HAND2 HRAS
IRX4 ISL1 JAG1 KANSL1
KCNA5 KCNJ8 KCNK3 KMT2D
KRAS LEFTY2 MAP2K1/MEK1 MAP2K2
MCTP2 MED12 MED13L MFAP5
MIB1 MYBPC3 MYH11 MYH6
MYH7 MYLK NEXN NF1
NKX2-5 NKX2-6 NODAL NOTCH1
NOTCH2 NOTCH3 PHP4 NRAS
PDGFRA PITX2 PLOD1 PRKG1
PTPN11 RAF1 RASA1 RASA2
RIT1 SALL4 SHOC2 SKI
SLC2A10 SMAD1 SMAD3 SMAD4
SMAD6 SMAD9 SOS1 SOS2
SPRED1 TAB2 TBX1 TBX20
TBX5 TDGF1 TFAP2B TGFB2
TGFB3 TGFBR1 TGFBR2 TNNI3
TNNI3K TOPBP1 UPF3B ZDHHC9
ZFPM2 ZIC3

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.
  • Individuals suspected or clinically diagnosed with a syndromic or non-syndromic (i.e. isolated) congenital heart disease. Upon familial history of congenital heart disease with a risk of recurrence, it is always necessary to try to determine its molecular etiology.
  • Familial study: relatives of patients with a syndromic or non-syndromic congenital heart disease in which a causal mutation has been previously identified.

It is recommended to rule out chromosomal abnormalities (karyotype, CGH-array, SNP arrays) in order to improve the yield of the test, especially when other malformations are present.

The NGS panel allows identifying mutations in some of the genes previously associated with the development of syndromic or non-syndromic congenital heart diseases.

Case analysis using whole-exome sequencing can be considered in cases where there is suspicion of a genetic cause for a congenital heart disease without an identified molecular cause, but the individual yield over our NGS panels is low.

Diagnostic approach:

In the case of a congenital heart disease associated with other malformations, it is possible that the cause is a genetic syndrome. For this reason, karyotype study is indicated upon suspicion of chromosomal abnormalities.

SNP arrays analysis can detect copy number variations (CNVs) in the whole genetic material, allowing to confirm or rule out microdeletion or microduplication syndromes, such as deletion 22q11 (velocardiofacial syndrome), deletion 7q11 (Williams syndrome), etc.

NGS panel (massive sequencing) allows for the study of 114 genes related to congenital heart diseases, either for some monogenic syndromes such as Holt-Oram syndrome (TBX5), Alagille syndrome (JAG1 and NOTCH2), CHARGE syndrome (CDH7), Rubinstein-Taybi syndrome (CREBBP and EP300), RASopathies, Marfan syndrome (FBN1), among others; as well as mutations in genes related to non-syndromic or isolated congenital heart diseases.

Health in Code also offers the possibility to perform whole exome sequencing studies in cases where there is suspicion of a genetic cause for a congenital heart disease without an identified molecular cause, but its additional yield over our NGS panels is low.

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