Dilated cardiomyopathy

Actionability Adult Summary Report

Secondary Findings in Adult Subjects. Non-diagnostic, excludes newborn screening & prenatal testing/screening.

• Genes: DMD (HGNC:2928) LMNA (HGNC:6636) TNNT2 (HGNC:11949) TTN (HGNC:12403) MYH7 (HGNC:7577) FLNC (HGNC:3756) BAG3 (HGNC:939) DES (HGNC:2770) SCN5A (HGNC:10593) RBM20 (HGNC:27424) TNNC1 (HGNC:11943) PLN (HGNC:9080) DSP (HGNC:3052)
• Mode(s) of Inheritance: Autosomal Dominant, X-linked
• Literature Search: 08/21/2025
• Curation Status: Released (3.0.0)

Assertions and Scores

Actionability Assertions

Gene	Condition (MONDO ID)	OMIM ID	Final Assertion
DMD	dilated cardiomyopathy 3B (0010542)	302045	Strong Actionability
LMNA	dilated cardiomyopathy 1A (0007269)	115200	Strong Actionability
TNNT2	dilated cardiomyopathy 1D (0011095)	601494	Strong Actionability
TTN	dilated cardiomyopathy 1G (0011400)	604145	Strong Actionability
MYH7	dilated cardiomyopathy 1S (0013262)	613426	Strong Actionability
FLNC	hypertrophic cardiomyopathy 26 (0014883)	617047	Strong Actionability
BAG3	dilated cardiomyopathy 1HH (0013479)	613881	Strong Actionability
DES	dilated cardiomyopathy 1I (0011482)	604765	Strong Actionability
SCN5A	dilated cardiomyopathy 1E (0011003)	601154	Strong Actionability
RBM20	dilated cardiomyopathy 1DD (0013168)	613172	Strong Actionability
TNNC1	dilated cardiomyopathy 1Z (0012745)	611879	Strong Actionability
PLN	dilated cardiomyopathy 1P (0012362)	609909	Strong Actionability
DSP	cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis (0014355)	615821	Strong Actionability

Actionability Assertion Rationale

• All experts agreed with the assertion computed according to the rubric. As accurate penetrance data for each gene-disease pair are still emerging and may differ, the likelihood scores were extrapolated from the likelihood of disease in individuals with more common hereditary causes of DCM and management was extrapolated from standard practices for individuals with DCM. The experts considered scoring at least some of the genes as having a definitive assertion of actionability but felt there were insufficient data supporting each of the criteria necessary for a definitive assertion.

Actionability Scores

Outcome / Intervention Pair	Severity	Likelihood	Effectiveness	Nature of Intervention	Total Score
Sudden cardiac death / Surveillance by specialists to guide consideration of implantable cardioverter defibrillator (ICD)	3	2C	3B	2	10CB
Sudden cardiac death / Surveillance by specialists to guide pharmacotherapy	3	2C	2B	3	10CB
Heart failure / Surveillance by specialists to guide pharmacotherapy	2	3N	3B	3	11NB

Severity of Outcome

Prevalence of the Genetic Condition

Special note: There are several evidence-based management guidelines for DCM and heart failure. This report has been prepared with a focus on specific outcome-intervention pairs for DCM predetermined by the actionability working group to be most actionable. As such, this report focuses on sudden cardiac death and heart failure in individuals with DCM. Therefore, the guidelines included are those focused on these specific outcomes for DCM and are not replicated in their entirety here. Guidelines were only included if they were published within the last 5 years or if they were recommended by an expert. The prevalence of dilated cardiomyopathy (DCM) in adults is estimated at 0.036-0.45% (~1 in 250). Sex-specific prevalence is estimated at 1 in 340 females and 1 in 160 males. Childhood incidence is estimated at 0.003-0.006% and childhood prevalence is estimated at 0.026%. Approximately 20-40% of DCM is attributable to pathogenic rare variants. The prevalence of pathogenic variants is 10-20% in non-familial DCM.

Clinical Features (Signs / symptoms)

DCM is defined as left ventricular dilation and global or regional systolic dysfunction and represents a group of “primary” cardiomyopathies. Left ventricular global systolic dysfunction is defined by left ventricular ejection fraction (LVEF) < 50%. Right ventricular dilatation and dysfunction may be present but are not necessary for the diagnosis. There are no subjective symptoms characteristic of DCM, and some individuals are asymptomatic. Individuals with DCM often develop symptoms of heart failure. Symptoms of heart failure include fatigue, breathlessness, reduced exercise tolerance, ankle swelling, chest pain, palpitations and syncope. Other manifestations can include arrhythmias and/or conduction system disease, and thromboembolic disease including stroke. DCM may cause sudden death due to fatal arrhythmias or thromboembolism of the arteries.

Natural History (Important subgroups & survival / recovery)

DCM may be asymptomatic with only mild ventricular dilation and dysfunction for years. Presentation of clinical symptoms usually occurs late in the disease course. DCM usually initially manifests in adults in the fourth to sixth decade, although it may present at any age (infancy, early or late childhood, adolescence, elderly). Among individuals with DCM-related variants, males are more likely to develop DCM, with a male to female ratio of 2.22 to 1. DCM is a disease with a poor prognosis that presents with repetitive acute exacerbations due to heart failure. Heart failure can occur many years after the appearance of ECG or echocardiographic abnormalities. Usually, by the time of the diagnosis individuals have severe impairment of LVEF and are in New York Heart Association (NYHA) functional class III-IV. Patients with severe heart failure, severe reduction of the functional capacity and depressed LVEF have a low survival rate and may require heart transplant. Sudden cardiac death (SCD) can occur, and in some instances is the presenting manifestation. SCD may occur with minimal or no systolic dysfunction. SCD accounts for 30-40% of all-cause deaths in people with DCM, mainly because of ventricular arrhythmias. Individuals with pathogenic variants in PLN, DSP, LMNA, FLNC, and RBM20 have a substantially higher rate of major arrhythmic events than other causes of DCM regardless of LVEF. Males with DCM have a higher risk of all-cause mortality, SCD, and cardiovascular mortality than females. The natural history of pediatric DCM differs from that of adult DCM in that death or transplantation usually occurs within 2 years after presentation with DCM, suggesting that many children and adolescents have advanced disease at presentation.

Likelihood of Outcome

Mode of Inheritance

Autosomal Dominant

Pathogenic variants in BAG3, DES, DSP, FLNC, LMNA, MYH7, PLN, RBM20, SCN5A, TNNC1, TNNT2 and TTN are associated with autosomal dominant DCM.

X-linked

DMD-associated DCM is inherited in an X-linked manner.

Prevalence of Genetic Variants

1-2 in 500

A study of 200,643 individuals in the UK Biobank who underwent whole exome sequencing found a prevalence of 1:251 for pathogenic and likely pathogenic variants associated with DCM.

Tier 5

1-2 in 500

Pathogenic variants in the TTN gene are the most common cause of monogenic DCM (15-25%), followed by pathogenic variants in LMNA (6%) and MYH7 (4-5%). The percent of DCM caused by other genes included in this report are as follows: FLNC (2-4%), TNNT2 (3%), BAG3 (2–3%), RBM20 (2%), SCN5A (2%), DES (<1%), PLN (<1%), TNNC1 (<1%), DSP (unknown).

Tier 4

Penetrance (Includes any high-risk racial or ethnic subgroups)

>= 40 %

Overall, DCM has age-related penetrance of DCM: 10% by age <20 years, 34% by age 30, 60% by age 40, and 90% for more advanced ages (>40).

Tier 3

5-39 %

To estimate penetrance for a secondary findings context, one study estimated the penetrance of pathogenic and likely pathogenic variants in DCM-associated genes in 293,226 participants from UK Biobank and gnomAD. In aggregate, the penetrance by late adulthood of rare, pathogenic variants was 35% and likely pathogenic variants was 10%.

Tier 5

1-4 %

A systematic review of sustained ventricular arrhythmias in DCM included 55 studies and 11,451 patients (76% male, mean age of 54 ± 7.9 years). The annual event rate of sustained ventricular arrhythmias was 4.5%. This risk is considerably higher in younger patients with hypertension, prior ventricular arrhythmia, decreased left ventricular ejection fraction, left ventricular dilatation, late gadolinium enhancement, and pathogenic variants in PLN, LMNA and FLNC.

Tier 1

5-39 %

For high-risk genes, the annual rate of SCD is 5-10% (LMNA, FLNC-truncating variants) and 3-5% (PLN, DSP, RBM20).

Tier 3

5-39 %

A study of 372 patients with DCM and pathogenic or likely pathogenic variants in DCM-related genes reported clinical data after a median follow-up of 4 years. Included patients were 67% male with a mean age at diagnosis of 50 years (range 39 to 58 years). The following clinical events were observed:

• Atrial fibrillation: 33.6%

• Stroke: 3.2%

• Appropriate ICD therapy: 11.3%

• Aborted SCD: 3.5%

• Heart failure hospitalization: 37.6%

• Heart failure-related mortality: 4.6%

• Malignant ventricular arrhythmia-related mortality: 2.4%

Tier 5

5-39 %

A pediatric cardiomyopathy registry included 754 children with DCM (idiopathic, myocarditis, neuromuscular and familial types) diagnosed between 2000-2009. The median age at diagnosis was 1.7 years (range 0.3 to 11.7 years) with 71% presenting with heart failure at diagnosis. After 3 years of follow-up:

• 29% had normal Echo values

• 8% had died

• 24% had undergone heart transplant

• 40% remained abnormal with respect to LV size or function

Tier 5

1-4 %

The incidence of SCD in pediatric patients with DCM (genetic status unknown) is 1-5%.

Tier 3

Relative Risk (Includes any high-risk racial or ethnic subgroups)

Unknown

Information in relative risk was not available.

Expressivity

DCM has highly variable age of onset. DCM may present at any age from infancy to late adulthood.

Tier 4

DCM has variable expression throughout life.

Tier 3

In some families, each relative with the same variant has a different disease state.

Tier 4

Intervention Effectiveness

Patient Management

It is recommended that all patients with cardiomyopathy have access to multidisciplinary teams with expertise in the diagnosis and management of cardiomyopathies. Children with a genetic cardiomyopathy generally need lifelong cardiac follow-up. Timely and adequate preparation for transition of care from pediatric to adult services, including joint consultations, is recommended in all adolescents with cardiomyopathy.

Tier 2

Current pediatric guidelines are based primarily on expert consensus and generally mirror the recommended medical therapies for adults but with less certainty and overall lower quality of evidence.

Tier 2

It is recommended that all patients with suspected or established cardiomyopathy undergo systematic evaluation using a multiparametric approach that includes clinical evaluation, pedigree analysis, electrocardiogram (ECG), Holter monitoring, laboratory tests, and multimodality imaging.

Tier 2

Comprehensive transthoracic echocardiography (TTE) is recommended for all DCM patients. Advanced ECHO techniques (tissue Doppler and speckle tracking deformation imaging) can allow the early detection of subclinical myocardial dysfunction in specific situations (e.g., genetic DCM carriers). A comprehensive ECHO evaluation of cardiac dimensions and LV and RV systolic (global and regional) and LV diastolic function is recommended in all individuals with cardiomyopathy at initial evaluation.

Tier 2

Cine MRI is recommended to assess cardiac anatomy and function.

Tier 1

Contrast-enhanced cardiac magnetic resonance imaging (CMR) is recommended in individuals with cardiomyopathy at initial evaluation. CMR is reasonable in children if TTE imaging windows are limited.

Tier 2

More detailed evaluation of conduction defects or arrhythmia, which may be an early presentation of certain DCM subtypes, should be considered in the context of certain gene variants (e.g., LMNA, DES).

Tier 2

Routine laboratory tests are recommended in all individuals with suspected or confirmed cardiomyopathy. Recommended laboratory tests include calcium, CK, ferritin, full blood count, liver function, NT-proBNP, phosphate, proteinuria, renal function, serum iron, thyroid function, troponin and Vitamin D (children).

Tier 2

First-line heart failure therapy may be considered in individuals with early forms of DCM to prevent progression of LV dilatation and dysfunction [e.g., angiotensin-converting enzyme inhibitor (ACE-I), angiotensin receptor blocker (ARBs), beta-blockers, and mineralocorticoid receptor antagonist (MRAs)]. The effect of heart failure drugs to prevent progression into overt disease in genetic carriers of DCM causing variants is currently unsettled. There is no evidence to support the use of current pharmacological agents for the prevention of disease development in non-affected carriers.

Tier 2

An ACE-I (angiotensin-converting enzyme inhibitor), beta-blocker, and MRA (mineralocorticoid receptor antagonist) are recommended for patients with reduced ejection fraction to reduce the risk of heart failure hospitalization and death.

Tier 1

Diuretics are recommended in patients with congestion and preserved or mildly reduced ejection fraction to alleviate symptoms and signs. An ACE-I (angiotensin-converting enzyme inhibitor), ARB (angiotensin-receptor blocker), beta-blocker, MRA (mineralocorticoid receptor antagonist), ARNi (angiotensin receptor-neprilysin inhibitors) and sacubitril/valsartan may be considered for patients with mildly reduced ejection fraction to reduce the risk of heart failure hospitalization and death.

Tier 2

A meta-analysis of randomized controlled trials of carvedilol (third generation of vasodilators and non-selective beta-blocker) treatment for DCM included 1146 patients from 21 studies. The mean age of participants ranged from 4.6 to 70.8 years, and sample sizes ranged from 6 to 78. Results suggested that compared with controls, carvedilol therapy significantly improved cardiac function including decreased heart rate (p<0.001), increased LVEF (p<0.001) and decreased systolic blood pressure (p<0.001).

Tier 1

An individual patient data meta-analysis of 11 beta-blockers trials included 14,262 patients total, with 575 patients having mildly reduced ejection fraction (40-49%) and 244 with preserved ejection fraction (≥ 50%). Beta-blockers were associated with reductions in all-cause and cardiovascular mortality compared to placebo, except in the small group with preserved ejection fraction. Beta-blockers reduced both sudden death and deaths ascribed to heart failure. For those with mildly reduced ejection fraction cardiovascular death occurred in 13/292 (4.5%) with beta-blockers and 26/283 (9.2%) with placebo; adjusted HR 0.48.

Tier 1

A randomized controlled trial of an ACE-I (enalapril) enrolled 4,228 individuals with left ventricular systolic dysfunction who were not receiving treatment for heart failure at the time of randomization. After a median duration of follow-up of 11.2 years, fewer people died in the enalapril group (1,074/2,111, 50.9%) than the control group (1,195/2,117, 56.4%; p<0.001). Life expectancy was extended by 9.2 months with enalapril.

Tier 3

A meta-analysis of diuretic efficacy included 928 patients with heart failure from 18 trials. Mortality data were available in three of the placebo-controlled trials (n=221). The mortality rate was lower for patients treated with diuretics (3/111, 2.7%) than for controls (12/110, 10.9%) [OR 0.25; p=0.03].

Tier 2

In children with reduced ejection fraction, diuretic therapy is used for symptomatic management of fluid retention despite lack of trials showing survival advantage or reduced hospitalizations. While there have been no RCTs of ACEi, ARBs or aldosterone antagonists in pediatric HF patients, the recommendation for their use is based on extrapolation for adult studies. In children with left ventricular systolic dysfunction, ACEi should be routinely used unless there is a specific contraindication. ARBs are a reasonable alternative for those who are intolerant of ACEi. Treatment with aldosterone antagonists is reasonable. ARNI in the place of an ACEi or ARB is reasonable. Use of beta-blockers is reasonable.

Tier 2

ACE-I and beta-blockers for heart failure with DCM in children has not been shown to improve transplantation-free survival. Furthermore, symptom and outcomes did not improve in a randomized trial of 161 children with heart failure who received a beta-blocker (carvedilol) in addition to ACE-I.

Tier 3

Pharmacotherapy-SGLT2 inhibitor

An SGLT2 inhibitor (dapagliflozin or empagliflozin) is recommended in patients with heart failure with preserved ejection fraction (LVEF ≥50%), mildly reduced ejection fraction (LVEF 41-49%) or reduced ejection fraction (LVEF ≤40%) to reduce the risk of heart failure hospitalization or cardiovascular death.

Tier 1

In children, an SGLT2 inhibitor may be considered, although their safety and effectiveness in children have not been systematically studied.

Tier 2

A meta-analysis included 12,251 patients with heart failure and preserved or mildly reduced ejection fraction from two randomized controlled trials. SGLT2 inhibitors reduced the risk of cardiovascular death (6.8% in the treatment groups, 7.7% in control groups; p=0.052) and heart failure hospitalization (9.6% in the treatment groups, 12.6% in control groups; p<0.0001).

Tier 1

An implantable cardioverter defibrillator (ICD) should be considered to reduce the risk of sudden death and all-cause mortality in patients with DCM, symptomatic heart failure, and LVEF ≤ 35% despite > 3 months of optimal medical therapy.

Tier 1

The patient’s genotype should be considered in the estimation of SCD risk in DCM. An ICD should be considered in patients with DCM and a genotype associated with high SCD risk and LVEF > 35% in the presence of additional risk factors. Individuals with DCM and pathogenic variants in high-risk genes (LMNA, DSP, RBM20, PLN, SCN5A, DES, and FLNC-truncating variants) should be considered as having a high-risk genetic background for SCD and primary prevention implantable cardioverter defibrillator (ICD) implantation should be considered with LVEF thresholds higher than 35%. For some high-risk genotypes, gene-specific risk-prediction scores have been developed that consider genotype characteristics and additional phenotypic features. Where such scores are available, they should be used to guide primary prevention ICD implantation. Shared decision-making based on real-world data, individual preferences, beliefs, circumstances and values should inform ICD implantation. ICDs are effective at treating potentially lethal ventricular arrhythmias and preventing sudden cardiac death (SCD).

Tier 2

A meta-analysis of randomized controlled trials examined the effect of primary prevention ICD therapy on mortality or SCD in adults with non-ischemic cardiomyopathy and heart failure. Six trials that enrolled 1715 patients were included. Five trials included symptomatic patients with LVEF ≤ 35%; one restricted patients to those listed for heart transplantation. Mean age ranged from 52 to 64 years; 67%-94% were males. The pooled estimates showed a significant 65% relative risk reduction of SCD and a 23% relative risk reduction in cardiovascular mortality.

Tier 1

Another meta-analysis of randomized controlled trials examined the effect of primary prevention ICD therapy on mortality and SCD in patients with DCM (genetic status unknown). Five trials including 2992 patients were included in the pooled analysis. Mean age was 61 years, 74% male. Compared to contemporary medical treatment there was a significant reduction in mortality (OR 0.77) and SCD (OR 0.43) with ICD device therapy.

Tier 1

Primary prevention ICDs may be considered in pediatric patients with DCM and syncope or an LVEF ≤35%, despite optimal medical therapy

Tier 2

There is no clear evidence that ICDs implanted for primary prevention in pediatric patients with nonischemic DCM improve survival.

Tier 3

One study evaluated the role of ICDs in preventing SCD in pediatric patients listed for heart transplantation. A total of 5072 mostly white (55%) male (55%) patients (mean age 6.2 +/- 6.5 years) were identified, of whom 1656 (33%) had DCM (genetic status unknown). At the time they were listed for heart transplantation, 426 (8.3%) had an ICD. While waiting for transplantation, 2.3% of patients with an ICD and 3.1% of patients without an ICD died of SCD. ICD was not associated with reduced SCD (P= .12), all-cause mortality, or delisting (P=.57).

Tier 5

Surveillance

In general, patients with cardiomyopathy require lifelong follow-up to detect changes in symptoms, risk of adverse events, ventricular function, and cardiac rhythm. The frequency of monitoring is determined by the severity of disease, age, and symptoms. A clinical examination, including ECG and transthoracic echocardiography, should be performed every 1-2 years, or sooner should patients complain of new symptoms. Clinical evaluation with ECG and multimodal imaging is recommended whenever there is a substantial or unexpected change in symptoms.

Tier 2

BNP/NT-proBNP is recommended in the integrated evaluation and monitoring of individuals with heart failure to further define disease severity, disease progression, and response to therapy.

Tier 2

Circumstances to Avoid

Information on circumstances to avoid was not available.

Nature of Intervention

Nature of Intervention

Identified interventions include non-invasive surveillance, pharmacotherapy, and possible ICD implantation, which could be associated with moderate risk. ICDs are associated with complications, particularly in young patients, who will require several replacements during their lifetimes. A review of adverse events following ICD implantation reported a 2.8-3.6% risk for adverse events and 1.2-1.4% risk of serious adverse events during hospitalization for ICD implantation. The most frequent serious adverse events were pneumothorax (0.4-0.5%) and cardiac arrest (0.3%). Long-term adverse events included device-related complications (0.1-6.4%), lead-related complications (0.2-3.7%), and thrombosis (0.2-2.9%). Inappropriate shocks were experienced by 3-21% of individuals. Up to 30% of individuals with ICD placement will develop anxiety and/or symptoms of post-traumatic stress and need additional support. A review of adverse drug effects in individuals with heart failure reported bradycardia risk of 1-52%, dizziness risk of 15-43%, and hypotension risk of 1.4-63% caused by beta-blocker usage. Hypokalemia risk of 0.6-30.2% was reported with MRA, ARNi, and ARB use. Cough risk of 37-50% caused by ACEi or ARB usage. Renal impairment risk of 0.6-7.6% was reported resulting from ARNi and ARB treatment.

Context: Adult Pediatric

Chance to Escape Clinical Detection

DCM is typically an adult-onset disorder, with many asymptomatic years. DCM may be detected in an asymptomatic individual during a medical evaluation for another reason, but patients often present with heart failure.

Context: Adult Pediatric

ECG can be normal in a small proportion of individuals with DCM.

Context: Adult Pediatric

Many similar diseases cause LV dilatation and systolic dysfunction. There can be genotypic and phenotypic overlap with other cardiomyopathies.

Context: Adult Pediatric

Gene Condition Association

Gene			Condition Associations
			OMIM Identifier	Primary MONDO Identifier	Additional MONDO Identifiers
			DMD			302045	0010542	0700335
LMNA			115200	0007269	0700335
TNNT2			601494	0011095	0700335
TTN			604145	0011400	0700335
MYH7			613426	0013262	0700335
FLNC			617047	0014883
BAG3			613881	0013479	0700335
DES			604765	0011482	0700335
SCN5A			601154	0011003	0700335
RBM20			613172	0013168	0700335
TNNC1			611879	0012745	0700335
PLN			609909	0012362	0700335
DSP			615821	0014355

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