BlueCross BlueShield of Tennessee Medical Policy Manual

Genetic Testing for Dilated Cardiomyopathy


Dilated cardiomyopathy (DCM) is a disorder of cardiac muscle that leads to progressive left ventricular enlargement and dilation in conjunction with significant systolic dysfunction. The clinical manifestations of DCM are heart failure, and/or cardiac arrhythmias. There are a variety of causes of DCM, which include genetic and nongenetic conditions. The diagnosis of DCM requires the presence of left ventricular enlargement and evidence of systolic dysfunction.

When an individual presents with DCM, a work-up is performed to identify underlying causes, especially those that are treatable. In many cases, a definite underlying cause is not identified. Approximately 35-40% of DCM cases are determined to be idiopathic after a negative workup for secondary causes. This has traditionally been termed idiopathic dilated cardiomyopathy. Clustering of idiopathic DCM within families has been reported, leading to the conclusion that at least some cases of DCM have a genetic basis. Familial DCM is diagnosed when two closely related family members have DCM in the absence of underlying causes. Penetrance of familial DCM is variable and age-dependent. Treatment of DCM is similar to other causes of heart failure. This includes medications to reduce fluid overload and relieve strain on the heart, and lifestyle modifications such as salt restriction. If a clinically significant arrhythmia is present, it may also require treatment.

Genetic forms of DCM are heterogeneous in the types of genetic variant, clinical expression, and hereditability. Genetic variations on more than 40 different genes have been associated with DCM. Because of the large number of potential variations associated with DCM and the infrequent nature of most variants, panel testing is frequently proposed.

Examples of commercially available genetic panels for DCM include:


Panel Name

Number of Genes Tested

Ambry Genetics

DCM panel



DCM/Left Ventricular Non-Compaction Panel

Cardiomyopathies Del/Dup Panel

Cardiomyopathy Panel




DCM panel
Conduction disease-DCM Panel


Partners Healthcare

DCM panel/Arrhythmogenic Cardiomyopathy Panel





The clinical utility of genetic testing for dilated cardiomyopathy is uncertain. For an individual who is diagnosed with idiopathic DCM, the presence of a genetic variant will not change treatment or prognosis. For an individual at risk due to genetic DCM in the family, it is uncertain how knowledge of a mutation will improve outcomes for an asymptomatic individual. Early treatment based on a genetic diagnosis is unproven.


American College of Cardiology Foundation/American Heart Association. (2013). 2013 ACCF/AHA Guideline for the Management of Heart Failure. Retrieved September 28, 2015 from:

BlueCross BlueShield Association. Medical Policy Reference Manual. (2:2018). Genetic testing for dilated cardiomyopathy. (2.04.114). Retrieved June 25, 2018 from BlueWeb. (55 articles and/or guidelines reviewed)

Broch, K., Andreassen, A., Hopp, E., Leren, T., Scott, H., Müller, F., et al. (2015). Results of comprehensive diagnostic work-up in ‘idiopathic’ dilated cardiomyopathy. Open Heart, 2015, 2:e000271. Doi:10.1136/openhrt-2015-000271. (Level 4 evidence)

Gómez, J., Lorca, R., Reguero, J., Morís, C., Martín, M., Tranche, S., et. al. (2017, April) Screening of the filamin C gene in a large cohort of hypertrophic cardiomyopathy patients. Circulation: Cardiovascular Genetics. (2) Abstract retrieved June 23, 2017 from PubMed database.

Hirtle-Lewis, M., Desbiens, K., Ruel, I., Rudzicz, N., Genest, J., Engert, J. C., et al. (2013). The genetics of dilated cardiomyopathy: A prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLN. Clinical Cardiology, 36 (10), 628-633. (Level 4 evidence)

Ingles, J., Burns, C., Bagnall, R., Lam, L., Yeates, L., Sarina, T., et. al., (2017, April) Nonfamilial hypertrophic cardiomyopathy: prevalence, natural history, and clinical implications. Circulation: Cardiovascular Genetics. (2) Abstract retrieved June 23, 2017 from PubMed database.

Lakdawala, N. K., Funke, B. H., Baxter ,S., Cirino, A. L., Roberts, A. E., Judge, D. P. et al. (2012). Genetic testing for dilated cardiomyopathy in clinical practice. Journal of Cardiac Failure, 18 (4), 296-303. (Level 4 evidence)

Mogensen, J., Hey, T., & Lambrecht, S. (2015). A systematic review of phenotypic features associated with cardiac troponin I mutations in hereditary cardiomyopathies. The Canadian Journal of Cardiology, 31 (11), 1377-1385. Abstract retrieved August 15, 2016 from PubMed database.

Winifred S. Hayes, Inc. Hayes GTE Overview. (2013, August). Familial dilated cardiomyopathy (FDC) for dilated cardiomyopathy (various manufacturers). Retrieved February 6, 2014 from

Winifred S. Hayes, Inc. Hayes GTE Report. (2011, April; last update search March 31, 2014). Genetic testing for dilated cardiomyopathy (DCM). Retrieved September 25, 2015 from (206 articles and/or guidelines reviewed)




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