RISK OF CARDIOMYOPATHIES

Why get tested?

Scientific studies show that about 50% of cardiac arrests occur in individuals without a known heart disease; however, numerous studies have highlighted a genetic predisposition to the development of cardiomyopathies, in particular, it has been shown that individuals with a family history of sudden cardiac death (SCD) have a 50% increased risk of developing SCD.
Cardiomyopathies represent a set of pathologies caused by structural and functional abnormalities of the heart muscle, which have consequences on the functioning of the myocardium. The test is indicated in individuals with a family history of SCD or heart disease. The test is also recommended in young subjects (under 40 years of age) with idiopathic cardiac symptoms, with a suspected clinical picture due to QT or cardiac rhythm abnormalities. The possibility of identifying subjects with increased risk of cardiomyopathies allows to implement any therapeutic interventions and plan specific prevention and follow-up programs. The test allows to confirm a suspicion of cardiomyopathy and to identify the possible presence of family mutations.

What the test detects

The tests allow to identify, in the investigated genes, small sequence variations such as: single nucleotide changes, insertions and deletions of a few base pairs. Sequence variations in the identified genes can predispose to a limited functional capacity of the heart which manifests itself with different symptoms and complications, including serious ones, such as: atrial fibrillation, heart failure, stroke, malignant ventricular arrhythmias and sudden death.

How testing works

The genetic test consists in performing a blood sample, in the extraction of genomic DNA and in the analysis of the entire coding sequence and related exon / intron junctions of different genes, in relation to the specific clinical phenotype. The analysis is conducted with NGS technology.

Which pathologies are detected

It is a set of heart muscle disorders in which the ventricles dilate but are unable to pump a sufficient amount for the body’s needs, causing heart failure.
Tested genes: ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSG2, DTNA, EYA4, GATAD1, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PKP2, PLN, PRDM16, PSEN1, PSEN2, RAF1, RBM20, SCN5A, SDHA, SGCD, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TTN and VCL.

It is a heterogeneous group of diseases all caused by an altered function of the mitochondria. Mitochondrial diseases have multi-organ involvement and may involve the heart often associated with late-onset dilated or hypertrophic heart disease, which typically progresses to heart failure.
Tested genes: ADCK3, AGK, COA3, COA5, COQ7, COX14, COX20, DNAJC19, ELAC2, FXN, GTPBP3, MCEE, MMAA, MMAB, MMACHC, MMADHC, MRPL3, MRPL44, MUT, NDUFAF5, PCCA, PCCB, SDHD and SLC19A2.

It is a rare disease, which already develops in the formation of embryos due to genetic factors, in which myocardial trabeculas are formed with recesses between them and different muscle density. The disease can cause dyspnea, heart failure, chest pain, and atrial fibrillation.
Tested genes: MYH6, MYH7, MYPN

It is a disease of the ventricular myocardium characterized by the presence of areas of fibrosis to replace the myocardial tissue in some areas of the wall of the right and / or left ventricle and by their dilation. ACM is among the most frequent causes of sudden death among young athletes.
Tested genes: CTNNA3, DSC2, DSG2, DSP, GATAD1, JUP, PKP2, PSEN1, PSEN2, RYR2, TCAP, TGFB3, TGFBR1, TGFBR2, TGFBR3, TMEM43

It is a condition in which the heart muscle thickens, becoming hypertrophic, in the absence of dilation of the ventricles. The possible manifestations are: arrhythmias, symptoms of obstruction of the outflow of blood from the left ventricle, heart failure and myocardial ischaemia. In hypertrophic cardiomyopathies the left ventricle becomes less elastic and therefore has a reduced capacity to receive the blood coming from the lungs; the result is a reduction in the amount of blood pumped by the heart.
Tested genes: ACTC1, ACTN2, CALR3, CAV3, CSRP3, DTNA, FLNC, GLA, ILK, JPH2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, PLN, RBM20, TCAP, TNNI3, TNNT2, TPM1 and TTN

Tests available

  • Dilated Cardiomyopathy
  • Mitochondrial cardiomyopathy
  • Arrhythmogenic Cardiomyopathy and Uncompressed Cardiomyopathy
  • Hypertrophic Cardiomyopathy

Reporting time

Results in 45 working days.

Sensitivity and specificity

Sensitivity, specificity analytical accuracy > 99%.

Fill out the form for further information

    * You are a