Dilated cardiomyopathy – Non-compaction cardiomyopathy [146 genes]

Dilated cardiomyopathy is the leading cause of heart failure and heart transplantation. Sometimes it is associated with an increased risk of ventricular arrhythmias and sudden cardiac death.
Dilated cardiomyopathy is defined as systolic dysfunction of the left ventricle (or biventricular) together with dilation that is not explained by abnormal loading conditions (valvulopathies, arterial hypertension, congenital heart disease) or an underlying coronary artery (PMID: 26792875). In addition, there are other conditions related to dilated cardiomyopathy, such as hypokinetic cardiomyopathy (dysfunction without ventricular dilation), myocardial non-compaction (PMID: 34838455) or arrhythmogenic cardiomyopathy with left involvement, which have been included under the term “left cardiomyopathy without dilation” in the new European guidelines. This broad definition and spectrum of diseases make left cardiomyopathy (dilated, hypokinetic, with or without enhancement, and with or without ventricular hypertrabeculation) a group of diseases with similar clinical manifestations but with very diverse causes in which genetics plays a key role, not only in the etiological definition of each case but also in a more exact knowledge of the prognosis that ultimately allows for more individualized management of patients with this disease.

Classically, a prevalence of the disease was described as 1/2,500 individuals, although it is currently accepted that it is a much more common disease, affecting around 1 in 250 (PMID: 23900355).

Genetic study in dilated cardiomyopathy (and left non-dilated cardiomyopathy) allows:
  1. A diagnostic confirmation, which is often an important support in the differential diagnosis.
  2. The most precise study of a patient’s relatives, so that carriers have access to an early/preclinical diagnosis and non-carriers can be safely discharged from cardiology consultations. It has been shown in this disease that this is a cost-effective strategy.
  3. An approach to the prognosis of each patient, depending on the type of genetic variant identified. Our scientific group has been a pioneer in this type of genotype-phenotype correlation analysis.

Once the diagnosis of dilated (or left non-dilated) cardiomyopathy has been established in a patient, the genetic study is indicated, as recommended by current clinical guidelines for the disease (Arbeloet al., 2023), those on the management of patients with heart failure and ventricular arrhythmias (PMID: 35083827, PMID: 36017572), as well as a recent international consensus on genetic study in heart disease (PMID: 35390533) .

The performance of the genetic testing in dilated cardiomyopathy (and the spectrum of disease, which includes the new name “non-dilated left cardiomyopathy”) is highly variable. When it comes to familial dilated cardiomyopathy, the performance of identifying a genetic variant that explains it is around 40% (PMID: 32880476, PMID: 35581137). The performance of the study is greater in patients with the onset of the disease at an early age, a family history of the disease, or signs that point to a genetic etiology, such as conduction disorders, low voltages, presence of skeletal myopathy, absence of blockade of left branch.

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Dilated cardiomyopathy - Non-compaction cardiomyopathy

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Techniques: Exome, NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-201906391

Dilated cardiomyopathy – Non-compaction cardiomyopathy: View panel

This panel includes the genes with the highest level of evidence of association with dilated cardiomyopathy and left non-dilated cardiomyopathy (hypokinetic, non-compaction), along with others that may give rise to these phenotypes in the context of other systemic pathologies and those considered candidates, in which there is only very limited clinical or functional evidence.

  • ACTC1
  • BAG3
  • DES
  • DMD
  • DSP
  • EMD
  • FLNC
  • HCN4
  • LMNA
  • MYBPC3
  • MYH7
  • PKP2
  • PLN
  • RBM20
  • SCN5A
  • TNNC1
  • TNNI3
  • TNNT2
  • TPM1
  • TTN
  • ACTA1
  • ACTN2
  • ALMS1
  • ALPK3
  • ANO5
  • ASNA1
  • CRYAB
  • DNAJC19
  • DOLK
  • DSC2
  • DSG2
  • DYSF
  • EYA4
  • FHOD3
  • FKRP
  • FKTN
  • GAA
  • GATA4
  • GLB1
  • GYG1
  • HFE
  • JPH2
  • JUP
  • KLF5
  • LAMA2
  • LAMP2
  • MYBPHL
  • MYL2
  • MYOT
  • MYPN
  • MYZAP
  • NKX2-5
  • PCCA
  • PCCB
  • PLEKHM2
  • PPA2
  • PPCS
  • PRDM16
  • QRSL1
  • RPL3L
  • RYR2
  • SDHA
  • SGCD
  • SGCG
  • SLC22A5
  • SPEG
  • TAZ
  • TBX5
  • TBX20
  • TCAP
  • TMEM43
  • TMEM70
  • TNNI3K
  • TRIM63
  • TTR
  • ZBTB17
  • ABCC9*
  • AKT1*
  • ANKRD1*
  • CASZ1*
  • CAV3*
  • CAVIN4*
  • CDC25B*
  • CHRM2*
  • COL7A1*
  • CSRP3*
  • CTF1*
  • DNM1L*
  • DTNA*
  • FBXO32*
  • FHL1*
  • FHL2*
  • FOXD4*
  • GATA5*
  • GATA6*
  • GATAD1*
  • GLA*
  • GSK3B*
  • HAND1*
  • HAND2*
  • IDH2*
  • ILK*
  • ISL1*
  • KAT2B*
  • KLHL24*
  • JARID2*
  • LAMA4*
  • LEMD2*
  • LDB3*
  • LMOD2*
  • LRRC10*
  • MEF2C*
  • MIB1*
  • MYH6*
  • MYL3*
  • MYLK3*
  • NDUFB11*
  • NEBL*
  • NEXN*
  • NNT*
  • NONO*
  • NRAP*
  • NUBPL*
  • OBSCN*
  • PDLIM3*
  • PDLIM5*
  • PKD2*
  • PPP1R13L*
  • PRKAG2*
  • PSEN1*
  • PSEN2*
  • PTPN11*
  • RAF1*
  • RBM24*
  • SGCA*
  • SGCB*
  • SURF1*
  • SYNE1*
  • SYNE2*
  • TLL2*
  • TMOD1
  • TOR1AIP1*
  • TUFM*
  • TXNRD2*
  • VCL*
  • XK*

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Related panels
Cardiomyopathies general panel [227 genes]

Panel that include dilated cardiomyopathy genes

Cardiomyopathies, arrhythmias and sudden death general panel [288 genes]

Panel that include dilated cardiomyopathy genes

References

  1. Charron P, Arad M, Monserrat L, et al. Genetic counselling and testing in cardiomyopathies: A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2010;31(22):2715-2728.
  2. Rapezzi C, et al. Diagnostic work-up in cardiomyopathies: Bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2013;34(19):1448-1458.
  3. Hershberger RE, Hedges DJ, Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol. 2013 Sep;10(9):531-47. doi: 10.1038/nrcardio.2013.105. Epub 2013 Jul 30. PMID: 23900355.
  4. Pinto YM et al. Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases. Eur Heart J. 2016 Jun 14;37(23):1850-8. doi: 10.1093/eurheartj/ehv727. Epub 2016 Jan 19. PMID: 26792875.
  5. Verdonschot JAJ et al. Implications of Genetic Testing in Dilated Cardiomyopathy. Circ Genom Precis Med. 2020 Oct;13(5):476-487. doi: 10.1161/CIRCGEN.120.003031. Epub 2020 Sep 3. PMID: 32880476.
  6. Boen HM et al. Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy. J Heart Lung Transplant. 2022 Sep;41(9):1218-1227. doi: 10.1016/j.healun.2022.03.020. Epub 2022 Apr 9. PMID: 35581137.
  7. Ross SB, Barratt A, Semsarian C. Time to Reconsider the Diagnosis of “Left Ventricular Noncompaction” in Adults? Heart Lung Circ. 2022 Mar;31(3):301-303. doi: 10.1016/j.hlc.2021.10.016. Epub 2021 Nov 24. PMID: 34838455.
  8. McDonagh TA et al. ESC Scientific Document Group. 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure: Developed by the Task Force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC). With the special contribution of the Heart Failure Association (HFA) of the ESC. Eur J Heart Fail. 2022 Jan;24(1):4-131. doi: 10.1002/ejhf.2333. PMID: 35083827.
  9. Zeppenfeld K et al. ESC Scientific Document Group. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J. 2022 Oct 21;43(40):3997-4126. doi: 10.1093/eurheartj/ehac262. PMID: 36017572.
  10. Wilde AAM et al. Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases. Heart Rhythm. 2022 Jul;19(7):e1-e60. doi: 10.1016/j.hrthm.2022.03.1225. Epub 2022 Apr 4. PMID: 35390533.
  11. Arbelo E et al. ESC Scientific Document Group. 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J. 2023 Aug 25:ehad194.  Epub ahead of print. PMID: 37622657.