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Dilated Cardiomyopathy Overview

, MD and , MS, LGC.

Author Information

Initial Posting: ; Last Update: August 23, 2018.

Summary

The purpose of this overview is to increase clinician awareness of the genetic basis of dilated cardiomyopathy (DCM) and the benefits of early diagnosis and management to individuals with genetic DCM.

The following are the goals of this overview.

Goal 1.

Define DCM.

Goal 2.

Identify the categories of DCM.

Goal 3.

Provide the evaluation strategy of a proband with nonsyndromic DCM.

Goal 4.

Provide a basic view of genetic risk assessment of at-risk asymptomatic relatives of a proband with DCM to inform cardiac surveillance and allow early detection and treatment of DCM to improve long-term outcome.

1. Dilated Cardiomyopathy (DCM): Definition

The diagnosis of DCM is established when both of the following are present:

  • Left ventricular enlargement
    Enlargement is most commonly assessed in adults by either echocardiography or cardiac MRI. Because of rapid growth in children, expert cardiovascular assessment is recommended to assess left ventricular enlargement in the pediatric population.
  • Systolic dysfunction, a reduction in the myocardial force of contraction
    An ejection fraction of less than 50% is considered systolic dysfunction. The left ventricular ejection fraction is the most commonly used clinical measure of systolic function, and is usually estimated from a two-dimensional echocardiogram or from cardiac MRI. Another noninvasive approach is a cardiac nuclear study. Ejection fractions can also be estimated from a left ventricular angiogram.

Note: Arrhythmogenic right ventricular cardiomyopathy (ARVC) with predominant LV involvement may present as DCM [Sen-Chowdhry et al 2008].

DCM usually initially manifests in adults in the fourth to sixth decade, although it may present at any age (prenatally; in infancy, early or late childhood, adolescence; or in the elderly). Extensive additional clinical and genetic information on DCM is available [Burkett & Hershberger 2005, Sivasankaran et al 2005, Judge 2009, Dellefave & McNally 2010, Hershberger et al 2010a, Hershberger & Siegfried 2011].

Persons with DCM may be asymptomatic for a number of years. Manifestations usually occur late in the disease course with one or more of the following findings:

  • Heart failure. Symptoms include those of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion).
  • Arrhythmias and/or conduction system disease. These commonly accompany advanced cardiomyopathy and heart failure. Some genetic causes (e.g., pathogenic variants in DES, FLNC, LMNA, and SCN5A) may have prominent conduction system disease or arrhythmias out of proportion to the degree of left ventricular dysfunction.
  • Thromboembolic disease. Stroke or systemic embolus secondary to left ventricular mural thrombus may also occur.
  • Pregnancy. Peripartum or pregnancy-associated cardiomyopathy (PPCM/PACM) that occurs during or soon after pregnancy was once considered distinct from DCM, but is now recognized as a part of the clinical spectrum of DCM.

2. Dilated Cardiomyopathy (DCM): Categories

DCM can be categorized as acquired, syndromic, or nonsyndromic (Figure 1).

Figure 1.

Figure 1.

Categories of dilated cardiomyopathy

Acquired (Secondary) DCM

The most common cause of acquired DCM is ischemic injury, such as that caused by prior myocardial infarction from coronary artery disease

Other less common causes include valvular and congenital heart disease, toxins (most commonly, anthracyclines or other chemotherapeutic agents; various drugs with idiosyncratic reactions), thyroid disease, inflammatory or infectious conditions, severe long-standing hypertension, and radiation.

Note: Acquired DCM will not be discussed further in this overview.

Syndromic DCM

In GeneReviews, "syndromic" refers to a disorder characterized by a constellation of phenotypic features that either: (1) specifically suggests the diagnosis (which can be confirmed by molecular genetic testing) or (2) allows diagnosis of the disorder in the absence of confirmatory molecular genetic findings. A selected list of syndromic DCM is provided in Table 1 [Hershberger et al 2009a, Hershberger et al 2013].

Note: Syndromic DCM will not be discussed further in this overview.

Table 1.

Selected List of Syndromic Dilated Cardiomyopathy

Disorder 1Gene(s)MOIOther Clinical FeaturesComments
Barth syndromeTAZXL
  • Neutropenia
  • Muscle weakness
  • Growth delay
  • Infantile/early-childhood onset
Carvajal syndrome (OMIM 605676)DSPAR
  • Woolly hair
  • Palmoplantar keratoderma
Duchenne and Becker muscular dystrophyDMDXLIn males:
  • Muscle weakness
  • Increased serum CK levels
  • Loss of ambulation in childhood or later in life
Heterozygous females may present w/isolated DCM.
Emery-Dreifuss muscular dystrophyEMD
FHL1
LMNA
XL
AD
AR
  • Joint contractures
  • Increased serum creatine kinase (CK) levels
  • Childhood- or adult-onset muscle weakness
Conduction system disease &/or arrhythmias are common.
HFE-associated hereditary hemochromatosisHFEAR
  • Cirrhosis
  • Diabetes
  • Hypermelanotic pigmentation
  • Increased serum iron & ferritin levels
Nondilated &/or infiltrative cardiomyopathy is more frequent than DCM.
Laing distal myopathyMYH7AD
  • Facial weakness
  • Childhood-onset weakness of ankles, great toes, finger extensors, & neck flexors
Limb girdle muscular dystrophy 1B (OMIM 159001)LMNAADProximal lower-limb weaknessConduction system disease &/or arrhythmias are common.
Mitochondrial DCM (see Mitochondrial Disorders Overview)mtDNAMatComplex phenotypes including:

Mat = maternal inheritance

1.

Disorders are in alphabetic order

Nonsyndromic DCM

Individuals with DCM who do not have acquired (secondary) DCM or syndromic DCM (Table 1) have nonsyndromic dilated cardiomyopathy (defined for this GeneReview as DCM with no other systemic involvement). See Table 2 for a current list of known DCM genes.

Table 2.

Dilated Cardiomyopathy Genes

Gene 1% of DCM Caused by Pathogenic Variants in This Gene 2MOIDistinguishing Clinical FeaturesAllelic Disorders 3OMIM
ADXL
ACTC1<1%FHC102540
ACTN2<1%FHC102573
ANKRD12.2%609599
BAG32.5%Progressive myofibrillar myopathy603883
CSRP3<1%FHC600824
DES<1%
  • Arrhythmia
  • Neuromuscular involvement
125660
DMD?Neuromuscular involvementDystrophinopathies (Duchenne muscular dystrophy, Becker muscular dystrophy)300377
DSG2Possible right ventricular involvement125671
EYA4?Hearing lossDFNA10 nonsyndromic hearing loss & deafness (see Hereditary Hearing Loss and Deafness Overview)603550
LDB31%Myofibrillar myopathy605906
LMNA6%Arrhythmia & conduction system disease 150330
MYBPC32%-4%FHC600958
MYH63%-4%FHC160710
MYH74.2%
  • MYH7-related myosin storage myopathy
  • Left ventricular noncompaction
  • MYH7-related scapuloperoneal myopathy
160760
NEXN<1%FHC613121
PLN?Arrhythmia & conduction system disease172405
PSEN1<1%Early-onset Alzheimer disease104311
PSEN2<1%Early- and late-onset Alzheimer disease600759
RBM201.9%Arrhythmia & conduction system disease613171
SCN5A2%-4%Arrhythmia & conduction system disease 600163
SGCD<1%Delta sarcoglycanopathy (LGMD2F)601411
TAZ?Childhood presentation 300394
TCAP1% 604488
TMPO1.1%188380
TNNC1<1%-1.3%FHC191040
TNNI31.3% (AD)
<1% (AR)
  • FHC (AD)
  • Restrictive cardiomyopathy (AD)
191044
TNNT22.9%
  • Left ventricular noncompaction
  • TNNT2-related familial restrictive cardiomyopathy
191045
TPM1<1%-1.9%FHC191010
TTN 410%-20%
  • LGMD2J
  • Myopathy, early-onset, w/fatal cardiomyopathy
  • Myopathy, proximal, w/early respiratory muscle involvement
  • Tibial muscular dystrophy, tardive
188840
VCL1%193065

See Dilated Cardiomyopathy: OMIM Phenotypic Series to view genes associated with this phenotype in OMIM.

LGMD2J = limb-girdle muscular dystrophy type 2J

1.

Genes are in alphabetic order.

2.

The percentages provided (based on ≥2 reports screening large numbers of probands with HNDCM) should be interpreted as preliminary estimates.

3.

Allelic disorders = other phenotypes caused by pathogenic variants in the same gene

4.

Note: Although 10%-20% of DCM in three cohorts (with or without a family history of DCM) was attributed to TTN pathogenic truncating variants [Herman et al 2012], determining the role of pathogenic variants in TTN in DCM is difficult given that: (a) 3% of controls also have truncating variants; and (b) TTN pathogenic truncating variants have not segregated with DCM in all families with DCM [Norton et al 2013]. Truncating TTN variants found in individuals with DCM have been reported to cluster in the A-band region of titin, the protein encoded by TTN [Roberts et al 2015]. To date, TTN missense variants have not been associated with disease.

3. Establishing (When Possible) the Specific Genetic Cause of DCM

Molecular genetic testing should be offered to every individual of any age with nonischemic DCM [Hershberger et al 2009b] including those with peripartum or pregnancy-associated cardiomyopathy (PPCM/PACM) [Elkayam et al 2005, Morales et al 2010, van Spaendonck-Zwarts et al 2010, Morales & Hershberger 2015] (Figure 1). See Table 2 for a current list of known DCM-associated genes. The purpose of establishing a molecular diagnosis of DCM is to inform risk assessment of relatives of a proband (Section 4).

Variants that are pathogenic, likely pathogenic, or of unknown significance have been reported in more than 30 genes in 40%-50% of individuals who either have familial DCM (i.e., in ≥2 first-degree family members) [Hershberger & Siegfried 2011, Hershberger et al 2013] or represent simplex cases (i.e., in only 1 family member) [Hershberger et al 2008, Hershberger et al 2010b, Pugh et al 2014]. The detection rate of pathogenic and likely pathogenic variants is about 27% [Pugh et al 2014].

A cardiomyopathy multigene panel that includes the genes listed in Table 2 is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.

For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.

Health care providers ordering genetic testing should be familiar with the genetics of DCM [Burkett & Hershberger 2005, Judge 2009, Caleshu et al 2010, Hershberger et al 2010a, Hershberger & Siegfried 2011, Hershberger et al 2013]. Given the complexity of interpreting genetic test results and their implications for surveillance and management, health care providers should consider referral to a cardiovascular genetics center or a genetic counselor specializing in cardiac genetics (see NSGC - Find a Genetic Counselor or ABGC Find a Certified Genetic Counselor search tools) [Burkett & Hershberger 2005, Judge 2009, Caleshu et al 2010, Hershberger et al 2010a, Hershberger & Siegfried 2011, Hershberger et al 2013].

4. Genetic Risk Assessment and Cardiac Surveillance of At-Risk Relatives for Detection of Early Treatable Manifestations of DCM

Cardiovascular screening of asymptomatic first-degree family members of an individual with DCM can allow early detection of DCM, prompt initiation of treatment, and improvement in long-term outcome [Morales & Hershberger 2015]. Clarification of the genetic status of first-degree family members of an individual with DCM can inform indication and frequency of subsequent cardiovascular screening. A basic view of dilated cardiomyopathy (DCM) genetic risk assessment and cardiac surveillance for at-risk relatives is presented in this section; issues that may be specific to a given family or genetic cause of DCM are not comprehensively addressed.

Note: Given the complexity of the genetics and surveillance recommendations for DCM, health care providers should consider referring at-risk asymptomatic relatives to a cardiovascular genetics center or a genetic counselor specializing in cardiac genetics (see NSGC - Find a Genetic Counselor or ABGC Find a Certified Genetic Counselor search tools) [Burkett & Hershberger 2005, Judge 2009, Caleshu et al 2010, Hershberger et al 2010a, Hershberger & Siegfried 2011, Hershberger et al 2013].

Genetic Risk Assessment

Dilated cardiomyopathy (DCM) can be inherited in an autosomal dominant or X-linked manner. Most DCM is inherited in an autosomal dominant manner.

Risk to Family Members – Autosomal Dominant Inheritance

Parents of a proband

Sibs of a proband. The risk to the sibs of the proband depends on the clinical/genetic status of the proband's parents:

  • If a parent of the proband is affected and/or has a DCM-related pathogenic or likely pathogenic variant, the risk to the sibs of inheriting the variant is 50%. Because of variable expression and reduced penetrance, no predictions can be made regarding age of onset or severity of disease.
  • For families in which both parents of a proband have a DCM-related pathogenic or likely pathogenic variant, sibs have a 75% chance of inheriting one or two DCM-related variants and a 25% chance of inheriting neither variant.

Offspring of a proband. Each child of an individual with autosomal dominant DCM has a 50% chance of inheriting DCM.

Risk to Family Members – X-Linked Inheritance

Parents of a proband

Sibs of a proband. The risk to sibs of a male proband depends on the genetic status of the mother; the risk to sibs of a female proband depends on the genetic status of both parents.

  • If the mother of the proband has a DCM-related pathogenic variant, the chance of transmitting it in each pregnancy is 50%. Males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be heterozygotes and may or may not be affected.
  • If the father of the proband has a DCM-related pathogenic variant, he will transmit it to all of his daughters and none of his sons.

Offspring of a proband. Affected males transmit the DCM pathogenic variant to all of their daughters and none of their sons; women with a DCM-related pathogenic variant have a 50% chance of transmitting the pathogenic variant to each child.

Cardiac Surveillance

It is appropriate to clarify the clinical and genetic status of asymptomatic family members at risk for DCM prior to the onset of manifestations to identify those with asymptomatic DCM and permit initiation of medical therapy aimed at preventing/delaying the morbidity of late-stage symptomatic disease [Morales & Hershberger 2015].

The following recommendations for surveillance of asymptomatic at-risk family members reflect the practice guidelines of the Heart Failure Society of America [Hershberger et al 2018].

If the Proband Has a Known Pathogenic Variant in a DCM-Related Gene

See Figure 1, teal box (Pathogenic variant identified). Molecular genetic testing is recommended for parents, sibs, offspring, and other at-risk family members in order to clarify their genetic status.

Those identified as heterozygous (or, if a male at risk for X-linked DCM, hemizygous) for the familial DCM-related pathogenic variant have an increased lifetime risk for DCM and, when asymptomatic, should undergo cardiovascular clinical screening at intervals based on the individual's age [Hershberger et al 2018].

Note: Asymptomatic at-risk relatives who do not meet criteria for DCM (with other causes ruled out) may represent early DCM when echocardiogram results are ambiguous (e.g., left ventricular enlargement with normal systolic function, decreased ejection fraction but normal-sized left ventricle) and/or echocardiogram results are normal but ECG results are abnormal (e.g., significant conduction system disease and/or arrhythmias).

Those without the familial DCM-related pathogenic variant are no longer considered to be at increased risk and thus may be discharged from cardiac surveillance.

If the Specific Genetic Cause of DCM in the Proband Has Not Been Identified

See Figure 1, orange box (Pathogenic variant not identified). Perform cardiovascular screening on asymptomatic at-risk family members at intervals based on the individual's age [Hershberger et al 2018]

Note: Asymptomatic at-risk relatives who do not meet criteria for DCM (with other causes ruled out) may represent early DCM when echocardiogram results are ambiguous (e.g., left ventricular enlargement with normal systolic function, decreased ejection fraction but normal-sized left ventricle) and/or echocardiogram results are normal but ECG results are abnormal (e.g., significant conduction system disease and/or arrhythmias).

If a first-degree at-risk relative shows evidence of dilated cardiomyopathy, a diagnosis of familial DCM is made and the surveillance recommendations should extend to that person's first-degree relatives.

Future additional genetic testing for the proband (and other informative family members) may be considered when:

  • Multigene panels are expanded to include more genes and test sensitivity increases (e.g., resulting from better coverage of the genes included and improved detection of deletions/duplications); and
  • Genomic testing (exome sequencing and genome sequencing) becomes more suitable for clinical use.

Resources

GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

References

Published Guidelines / Consensus Statements

  • Committee on Bioethics, Committee on Genetics, and American College of Medical Genetics and Genomics Social, Ethical, Legal Issues Committee. Ethical and policy issues in genetic testing and screening of children. Available online. 2013. Accessed 8-16-18. [PubMed: 23428972]
  • National Society of Genetic Counselors. Position statement on genetic testing of minors for adult-onset disorders. Available online. 2017. Accessed 8-16-18.

Literature Cited

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Chapter Notes

Author History

Ray E Hershberger, MD (2007-present)
Jessica D Kushner, MS, CGC; Oregon Health & Science University (2007-2013)
Ana Morales, MS, CGC (2013-present)
Sharie Parks, PhD; Oregon Health & Science University (2007-2013)

Revision History

  • 23 August 2018 (bp) Comprehensive update posted live
  • 24 September 2015 (me) Comprehensive update posted live
  • 9 May 2013 (me) Comprehensive update posted live
  • 19 March 2009 (cd) Revision: sequence analysis and prenatal testing available clinically for TCAP, ABCC9, VCL, ACTN2, and CSRP3
  • 10 July 2008 (cd) Revision: clinical testing available for TTN mutations as a cause of dilated cardiomyopathy
  • 27 July 2007 (me) Review posted live
  • 6 December 2006 (jdk) Original submission
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