Cardiomyopathies

Cardiomyopathies are a heterogeneous group of serious cardiovascular diseases with a strong genetic basis, associated with an increased risk of heart failure and sudden cardiac death.

GENOSOPHY®’s Cardiomyopathy Genetic Test includes 217 genes, offering comprehensive genetic evaluation useful for:

Patients with a clinical diagnosis of cardiomyopathy of unknown cause
Individuals with a family history of cardiomyopathy or sudden cardiac death
Patients with unclear or overlapping cardiac symptoms
Patients at high risk for serious complications, such as ventricular arrhythmias

This genetic test complies with guidelines from all major international cardiology organizations, including the American College of Cardiology (ACC), American Heart Association (AHA), European Society of Cardiology (ESC), Heart Failure Society of America (HFSA), and Heart Rhythm Society (HRS). These guidelines recommend genetic testing to support diagnosis, prognosis, and personalized management of patients with cardiomyopathies.

Conditions Covered by GENOSOPHY®’s Cardiomyopathy Genetic Test

The test includes genes related to the following forms of cardiomyopathies:

Hypertrophic Cardiomyopathy (HCM)

The most common genetic heart condition, characterized by thickening of the heart muscle
Associated with arrhythmias and an increased risk of sudden cardiac death

Dilated Cardiomyopathy (DCM)

Progressive enlargement and weakening of the myocardium
Linked to heart failure and ventricular arrhythmias

Arrhythmogenic Cardiomyopathy (ARVC)

Progressive replacement of myocardium with fibrofatty tissue
Increased risk of ventricular arrhythmias and sudden death

Left Ventricular Noncompaction Cardiomyopathy (LVNC)

A developmental disorder involving poor compaction of myocardial fibers
Associated with heart failure and arrhythmias

Clinical Benefits

Diagnosis

Genetic characterization of underlying causes
Improves differential diagnosis and avoids unnecessary invasive procedures
More accurate phenotypic classification in complex or atypical cases

Prognosis

Risk evaluation for sudden cardiac death
Prediction of disease course and severity

Management

Guidance for medical and nutritional interventions, ICD, or pacemaker implantation
Monitoring strategy and preventive interventions for relatives

Testing Procedure

The process is simple and includes:

Collection of a blood or saliva sample
Analysis of 217 cardiomyopathy-related genes using next-generation sequencing (NGS)
Results available in 5–6 weeks

Consultation and detailed explanation of genetic results is available through medical faculty from the National and Kapodistrian University of Athens (NKUA) as an additional service.

Genes Included in the Genetic Test

AARS2, ABCC6*, ABCC9, ACAD9, ACADVL, ACTA1, ACTA2, ACTC1, AKAP9, ANK2, APOA1, ATPAF2, BAG3, BRAF*, CACNA1C*, CACNA1D, CACNB2, CALM1*, CALM2, CALM3, CALR3, CAPN3, CASQ2, CASZ1, CAV3, CBL, CDH2, CHKB, CHRM2, COX15, CPT2, CRYAB, CSRP3, CTNNA3, DBH, DES, DMD, DNAJC19, DOLK, DPM3, DSC2, DSG2, DSP, DTNA, DYSF, EEF1A2, ELAC2, EMD, ENPP1, EPG5, ETFA, ETFB, ETFDH, FAH, FBXL4, FBXO32, FHL1*, FHOD3, FKRP, FKTN, FLNC*, FOXD4*, FOXRED1, FXN*, GAA, GATA4*, GATA6, GATAD1, GATC*, GBE1, GFM1, GLA, GLB1, GMPPB, GNB5, GSK3B, GTPBP3, GUSB*, HADHA, HAND1, HAND2, HCN4, HFE, HRAS, HCN4, IDUA, ILK, ISPD, JPH2, JUP, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, KLHL24, KRAS*, LAMA2, LAMP2, LDB3, LMNA, LMOD2, LRRC10, LZTR1, MAP2K1, MAP2K2, MAP3K8, MIPEP*, MLYCD, MRPL3*, MRPL44, MRPS22, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, NDUFAF2, NDUFB11, NEXN, NF1*, NKX2-5, NONO, NOS1AP, NRAP, NRAS, NUP155, PCCA, PCCB*, PKP2*, PLEC, PLEKHM2, PLN, PNPLA2, PPA2, PPCS, PRKAG2, RBM20, RRAS, RYR2, SALL4, SCN10A, SCN1B, SCN3B, SCN5A, SCNN1B, SCNN1G, SCO1, SCO2, SDHA*, SELENON*, SGCA, SGCB, SGCD, SGCG, SHOC2, SLC12A3, SLC22A5, SLC25A20, SLC25A4, SMCHD1, SOS1, SOS2, TAB2, TANGO2, TAZ, TBX20*, TBX5, TCAP, TECRL, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRIM32, TRPM4, TSFM*, TTN*, TTR, VCL, VCP, VPS13A, XK

Note:
In addition to full exon sequencing of the above genes, the test also analyzes dozens of variants in non-coding regions, such as promoters and introns. Detection sensitivity for single nucleotide variants (SNVs), indels, and CNVs exceeds 99%. Sensitivity may be slightly reduced in genes marked with an asterisk (*).