Hypertrophic Cardiomyopathy

16 genes / 90 genes

Hypertrophic cardiomyopathy (HCM) is a genetic disease characterized by cardiac muscle wall thickening in the absence of other cardiac or systemic disease capable of causing the observed magnitude of hypertrophy. Early diagnosis is important since the disease is associated with a significant risk of sudden death and cardiovascular complications. The incidence of the disease is approximately 1 in 500 individuals. The genetic study is indicated in clinical practice guidelines upon suspicion of the disease.

  • It allows confirming the clinical suspicion and is also an important tool for differential diagnosis of the disease.
  • An adequate and correct diagnosis of the disease allows for risk stratification. The identification of the responsible mutation also provides prognostic information about the disease, with our group in the lead of this genetic field.
  • The test has a predictive value for the disease when a pathogenic mutation is found. It then becomes the basis for genetic counseling, constituting a cost-effective strategy for family monitoring: carriers should undergo appropriate monitoring and risk stratification of the disease; non-carriers present the same risk as the general population.

The probability of detecting a mutation probably causing the disease in a patient under suspicion of familial hypertrophic cardiomyopathy with our basic 16-gene panel is close to 60%, which can be increased by using our extended 90-gene panel. Diagnostic yield depends on multiple variables such as number of relatives affected, clinical suspicion, age, race, institution of origin, etc.

Hypertrophic Cardiomyopathy Panel

16 genes
Our basic HCM panel is indicated as a first diagnostic approach upon clinical suspicion of HCM. It includes the main 9 sarcomeric genes associated with the disease, and it also contains 7 disease-associated genes whose clinical presentation can be indistinguishable from classic HCM (phenocopies).

MYH7, MYBPC3, TNNT2, TNNI3, TPM1, TNNC1, MYL2, MYL3, ACTC1, PRKAG2, LAMP2, PTPN11, GLA, DES, TTR, FLNC

Hypertrophic Cardiomyopathy Extended Panel

90 genes
It includes both the primary sarcomeric genes and all phenocopies of the disease, as well as secondary and candidate genes gathered from a systematic literature review. It is indicated when:

  • The basic panel study is negative and there is a clear HCM phenotype, since it improves diagnostic yield.
  • Severe phenotypes or phenotypes associated with syndromes and other rare genetic diseases are detected.
  • An exhaustive genetic study of this pathology is intended, since this is the most complete panel for HCM on the market.

MYH7, MYBPC3, TNNT2, TNNI3, TPM1, TNNC1, MYL2, MYL3, ACTC1, PRKAG2, LAMP2, PTPN11, GLA, DES, TTR, FLNC, AARS2, ACAD9, ACADVL, ACTA1, ACTN2, AGK, AGL, AGPAT2, ANK2, ANKRD1, ATPAF2, BRAF, BSCL2, CALR3, CAV3, COQ2, COX15, COX6B1, CRYAB, CSRP3, DLD, FAH, FHL1, FHL2, FHOD3, GAA, GFM1, GLB1, GNPTAB, GUSB, HRAS, JPH2, KRAS, LDB3, LIAS, MAP2K1, MAP2K2, MLYCD, MRPL3, MRPS22, MTO1, MYH6, MYOZ2, MYPN, NEXN, NRAS, PDHA1, PHKA1, PLN, PMM2, RAF1, SHOC2, SLC22A5, SLC25A4, SOS1, SURF1, TAZ, TCAP, TMEM70, TRIM63, TSFM, TTN, VCL, BAG3*, CASQ2*, CTF1*, KCNJ8*, KLF10*, LMNA*, MURC*, MYLK2*, OBSL1*, PDLIM3*, RYR2*

Notes on Genes:

Priority Genes: These genes include >70% of the mutations that have been previously associated with the development of hypertrophic cardiomyopathy and/or their testing is recommended by the guidelines. Secondary genes: Other genes related to the disease. *Candidate genes: With no evidence, but likely to be related to the phenotype.