Restrictive Cardiomyopathy [23 genes]

Restrictive cardiomyopathy is a heart disease characterized by impaired ventricular filling in the absence of myocardial hypertrophy or significant impairment of systolic function. Patients usually present signs and symptoms of heart failure and increased mortality rate, requiring heart transplantation in many cases. Although many of the genes associated with this disease are associated with other types of cardiomyopathies (particularly hypertrophic and dilated), there are some predominantly related to this phenotype.

  • It is able to identify the causal mutation, confirming the diagnosis of the disease. Due to the clinical heterogeneity and overlapping of different phenotypes, it is very important for differential diagnosis.
  • In case a pathogenic mutation is detected, it can be used as a predictive test. It is useful in genetic counseling since it can detect carriers at risk that should be under adequate clinical monitoring.

The probability of identifying a likely causal mutation in a patient under suspicion of restrictive cardiomyopathy is approximately 50%. The diagnostic yield is higher in cases with a clear phenotype and family history of the disease.

Request study Informed consent
Steps to follow
Steps to follow

How to order

1. Download & fill out

Please cover as many fields as possible in both documents

2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

Please pack the sample in a way to prevent leakage

4. Send the sample & the request

Please schedule the delivery for Mon–Thur: 8am – 5pm

5. Result: the report

Via: Client Site HIC / Client Site Imegen / Certified email

Ask for information
Solicita información de

Restrictive Cardiomyopathy

  • *

Turnaround time (TAT): 4 weeks

Ref. S-201906393

Restrictive Cardiomyopathy: View panel

  • This panel is indicated as the first diagnostic approach to a patient with a clear phenotype of restrictive cardiomyopathy, as it has been designed specifically for this condition.
  • It includes priority genes, which are genes that have been clearly associated with the disease. Some of them are also associated with other cardiomyopathies.
  • Genes that have been sporadically associated with the disease are listed as secondary genes, and candidate genes gathered from a systematic literature review are also included.

  • ACTC1
  • DES
  • FHL1
  • FLNC
  • GLA
  • MYBPC3
  • MYH7
  • MYL2
  • TNNI3
  • TNNT2
  • TPM1
  • TTR
  • ACTN2
  • HFE
  • MYL3
  • MYPN
  • TNNC1
  • ALMS1*
  • BAG3*
  • CRYAB*
  • FHOD3*
  • LMNA*
  • TTN*

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 [204 genes]

Panel that include restrictive cardiomyopathy genes

Cardiomyopathies, Arrhythmias, and Sudden Death General Panel [251 genes]

Panel that include restrictive cardiomyopathy genes

Cardiovascular Diseases General Panel [405 genes]

Panel that include restrictive cardiomyopathy genes

References

  • 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.
  • Rapezzi C, Arbustini E, Caforio A, 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.

This site is registered on wpml.org as a development site.