SCIENTIFIC BACKGROUND

AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AKAP9, ALMS1, ALPK3, ANKRD1, BAG3, CASQ2, CAV3, COA5, COA6, COX15, CPT2, CRYAB, CSRP3, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, FHL1, FKTN, FLNC, GAA, GATAD1, GBE1, GLA, GTPBP3, HADHA, HADHB, HCN4, HRAS, ILK, JPH2, JUP, KARS1, LAMA4, LAMP2, LDB3, LMNA, MIB1, MRPL3, MRPL44, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NDUFB11, NDUFV2, NEBL, NEXN, PDLIM3, PKP2, PLN, PPA2, PRDM16, PRKAG2, RAF1, RBM20, RYR2, SCN5A, SCO2, SGCD, SLC22A5, SLC25A20, SLC25A3, SLC25A4, TAFAZZIN, TCAP, TGFB3, TK2, TMEM43, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TSFM, TTN, TTR, VCL

Category:

Scientific Background

Cardiomyopathies are structural and functional diseases of the heart muscle, called myocardium, resulting in difficulty of the heart to properly pump blood to the body. They can affect all age groups and can sometimes lead to sudden cardiac death. There are different types of cardiomyopathies, broadly divided into genetic, hereditary, and non-genetic. The most common hereditary cardiomyopathy is Hypertrophic Cardiomyopathy (HCM) with a prevalence of 1 to 500 worldwide. A lot of patients with hereditary cardiomyopathy often are asymptomatic which makes it difficult for doctors to identify and diagnose them early, increasing the risk of more serious heart conditions such as arrhythmias and heart failure.

 

Who is this test for?

Cardiomyopathy genetic testing is a valuable tool for the management of hereditary cardiomyopathies in families with known medical history. Identifying a disease-causing genetic mutation in asymptomatic family members can help doctors monitor them at key time intervals and suggest prophylactic measures. Genetic testing can also play a vital role in the prognosis of the patient by identifying the gene responsible for the disease and helping the doctor choose the most optimal disease management to minimize any potential complications that might arise prior to any cardiovascular episode.

 

References

  • Miles, C., Fanton, Z., Tome, M., & Behr, E. R. (2019). Inherited cardiomyopathies. BMJ, l1570. https://doi.org/10.1136/bmj.l1570
  • Vogiatzi G, Lazaros G, Oikonomou E, Lazarou E, Vavuranakis E, Tousoulis D. Role of genetic testing in cardiomyopathies: Α primer for cardiologists. World J Cardiol. 2022 Jan 26;14(1):29-39. doi: 10.4330/wjc.v14.i1.29. PMID: 35126870; PMCID: PMC8788175.
  • Musunuru, K., Hershberger, R. E., Day, S. M., Klinedinst, N. J., Landstrom, A. P., Parikh, V. N., Prakash, S., Semsarian, C., & Sturm, A. C. (2020). Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association. Circulation: Genomic and Precision Medicine, 13(4). https://doi.org/10.1161/hcg.0000000000000067

 

How many genes are tested in this panel?

98 genes

 

What diseases are associated with the genes tested in this panel?

  • Hypertrophic Cardiomyopathy (HCM)
  • Arrhytmogenic Cardiopathy (ACM)/ Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
  • Dilated Cardiomyopathy
  • Cardiomyopathy with onset in neonatal period infancy or childhood
  • Restrictive Cardiomyopathy

GENES

AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AKAP9, ALMS1, ALPK3, ANKRD1, BAG3, CASQ2, CAV3, COA5, COA6, COX15, CPT2, CRYAB, CSRP3, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, FHL1, FKTN, FLNC, GAA, GATAD1, GBE1, GLA, GTPBP3, HADHA, HADHB, HCN4, HRAS, ILK, JPH2, JUP, KARS1, LAMA4, LAMP2, LDB3, LMNA, MIB1, MRPL3, MRPL44, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NDUFB11, NDUFV2, NEBL, NEXN, PDLIM3, PKP2, PLN, PPA2, PRDM16, PRKAG2, RAF1, RBM20, RYR2, SCN5A, SCO2, SGCD, SLC22A5, SLC25A20, SLC25A3, SLC25A4, TAFAZZIN, TCAP, TGFB3, TK2, TMEM43, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TSFM, TTN, TTR, VCL
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