Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy (HCM) is a genetic disease causing unexplained thickening and increased stiffness of the heart reducing the left ventricle’s ability to fill and consequently pump blood efficiently. In some cases, the electrical conducting system of the heart is also affected, causing abnormal heart rates and/or rhythms to develop.
HCM has a mild to severe clinical outcome. It has particular impact in young people or athletes practising intensive physical exercise. This may contribute to the development of the pathology and trigger sudden cardiac death [1,2,4].
1 in every 500 people has predisposition to HCM
HCM is the most common cardiovascular genetic disease and may result in sudden cardiac death
There is 50% chance of passing it to children (or inheriting it from parents)
HCM Genetic Testing
The use of genetic testing for HCM can be considered to:
- support medical geneticists and cardiologists in diagnosis
- differentiate HCM from the non-pathological “athlete’s heart” when there are still doubts on the final diagnosis
- estimate family risk for the family relatives who inherited the genetic mutation(s)
The most prevalent mutated genes are:
- MYH7 – myosin heavy-chain;
- MYPBC3 – myosin binding protein C;
- TNNT2 – troponin T;
- TNNI3 – troponin I;
- TPM1 – tropomyosin;
- MYL2 – regulatory myosin light chain;
- MYL3 – essential myosin light chain;
- ACTC1 – cardiac actin.
HCM Genetic Panels
SportGene – Study of Molecular Pathogenic Markers
SportGene genetic panel developed by HeartGenetics includes the evaluation of high-risk genetic variants associated with HCM development. Despite genotype-phenotype correlations, HCM is still under intensive research. The selection of genes and mutations was based on literature descriptions of HCM severe phenotype, early onset and family history of sudden death.
18 Genes (218 Genetic variants)
ACTC1(3), ACTC2(1), BRAF(1), CRYAB(1), CSRP3(2), FHL1(2), FLNC(4), LAMP2(1), LDB3(1), MYBPC3(93), MYH7(57), MYL2(1), MYL3(7), TCAP(2), TNNC1(2), TNNI3(15), TNNT2(20), TPM1(5)
HCMScreening – Genetic Study of HCM
HCMScreening includes all genetic variants evaluated in SportGene and adds 745 new genetic variants for a complete evaluation of the HCM genetic cause. HCMScreening gene panel includes 57 genes recognized by the scientific community as associated with HCM.
57 Genes (963 Genetic variants)
ACTA1(1), ACTC1(14), ACTN2(4), ANKRD1(3), BRAF(1), CALM3(1), CALR3(2), CASQ2(1), CAV3(1) , COA5(1), COX15(2), CRYAB(1), CSRP3(11), DES(1), FLNC(4), FHL1(4), FHOD3(1), FXN(1), GLA(1), JPH2(4), KLF10(6), LAMP2(1), LDB3(1), MAP2K1(1), MAP2K2(1), MRPL3(1), MTO1(2), MYBPC3(373), MYH6(3), MYH7(308), MYL2(16), MYL3(12), MYLK2(2), MYO6(1), MYOM1(1), MYOZ2(2), MYPN(8), NDUFAF1(2), NDUFV2(1), NEXN(2), OBSCN(1), PDLIM3(1), PLN(7), PRKAG2(7), RAF1(1), SLC25A3(1), SLC25A4(2), SOS1(2), SRI(1), TCAP(6), TNNC1(7), TNNI3(44), TNNT2(54), TPM1(16), TRIM63(3), TTN(6), VCL(1)
International Medical Guidelines
According to the European Society of Cardiology:
Report Example
Download SportGene report example in EN-GB
Download HCMscreening report example in EN-GB, ES and PT-PT
Turnaround time: 30 days
Scientific Studies
[1] Heart Fail Clin. 2010 Apr;6(2):141-59
[2] Cardiovascular Medicine. 2008;5(3):158-168
[3] J Am Coll Cardiol. 2011;58(25):e212-e260
[4] Circulation 2011;123:544-550
[5] J Am Coll Cardiol. 2009;54:201–211.
[6] Eur Heart J. 2010; 31:926–935.
[7] Circ Cardiovasc Genet. 2009; 2:182-190.
[8] Neth Heart J 2007; 15:184-9
[9] Prog Pediatr Cardiol. 2011;31(2):93–98.
[10] Eur J Prev Cardiol. 2013;20(5):889-903
[11] ESC – Eurospace. 2011;13:1077-1109
[12] Eur J Hum Genet. 2014;22(2):160-70
[13] Eur Heart J. 2014 Oct 14;35(39):2733-79
[14] Eur J Hum Genet. 2014. 22(2):160-70.
