{ "@context": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/context/doc", "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138", "id": "CG-AC:AC138", "type": "ClinicalActionabilityReport", "metadata": { "schemaLabel": "AC-Sepio.Beta-1 (Unofficial)", "contentVersionId": "30883", "producedAtUTC": "Thu, 10 Sep 2026 19:39:37 -0000", "note": "DISCLAIMER: The SEPIO-inspired schema presented here is an initial prototype for Clinical Actionability curation summaries and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema." }, "description": "JSON-LD representation of ClinGen Actionability Stage 2 report modeled with SEPIO. The hierarchically structured document will include:\n1. Contextual & topic information, such as the **conditions/diseases** and the **genes**.\n2. Categorized **evidence narratives**, with references.\n\t* This content corresponds to the texts within the *Actionability Summary Report*\n4. **Outcome & Intervention** pairs, with **consensus scoring** in 5 dimensions:\n\t1. Outcome Severity\n\t2. Outcome Likelihood\n\t3. Intervention Effectiveness\n\t4. Nature of the Intervention\n\t5. Total (Overall) Score\n\n*( Note: The summary report does not include the **Screening Survey** which led to preparation of the actionability report. )", "condition": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/co", "id": "CG-AC:AC138/co", "type": "GeneticCondition", "label": "Dilated cardiomyopathy" }, "outcome": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ou/Sudden%20cardiac%20death", "id": "CG-AC:AC138/ou/Sudden cardiac death", "type": "Outcome", "label": "Sudden cardiac death" }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ou/Heart%20failure", "id": "CG-AC:AC138/ou/Heart failure", "type": "Outcome", "label": "Heart failure" } ], "intervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/intv/Surveillance%20by%20specialists%20to%20guide%20consideration%20of%20implantable%20cardioverter%20defibrillator%20%28ICD%29", "id": "CG-AC:AC138/intv/Surveillance by specialists to guide consideration of implantable cardioverter defibrillator (ICD)", "type": "Intervention", "label": "Surveillance by specialists to guide consideration of implantable cardioverter defibrillator (ICD)" }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/intv/Surveillance%20by%20specialists%20to%20guide%20pharmacotherapy", "id": "CG-AC:AC138/intv/Surveillance by specialists to guide pharmacotherapy", "type": "Intervention", "label": "Surveillance by specialists to guide pharmacotherapy" }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/intv/Surveillance%20by%20specialists%20to%20guide%20pharmacotherapy", "id": "CG-AC:AC138/intv/Surveillance by specialists to guide pharmacotherapy", "type": "Intervention", "label": "Surveillance by specialists to guide pharmacotherapy" } ], "clinicalActionabilityProfile": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/cap", "id": "CG-AC:AC138/cap", "type": "Assertion", "assertionMethod": "The ClinGen AWG developed a standardized protocol to generate evidence-based profiles of clinical actionability of genes and associated disorders in the form of summary reports and semiquantitative metric (SQM) scores.", "releaseDate": "Wed, 17 Jun 2026 00:00:00 -0000", "releaseNum": "1.0.3", "media": "call" }, "evidenceStatements": { "evidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/en/ACMI2888", "id": "CG-AC:AC138/en/ACMI2888", "type": "EvidenceNarrative", "narrative": "X-linked", "evidenceDomainTag": "Threat Materialization Chances.Modes of Inheritance", "publication": [ "CG-AC:RF000632" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/en/ACMI2889", "id": "CG-AC:AC138/en/ACMI2889", "type": "EvidenceNarrative", "narrative": "Autosomal Dominant", "evidenceDomainTag": "Threat Materialization Chances.Modes of Inheritance", "publication": [ "CG-AC:RF000632" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/en/potgd", "id": "CG-AC:AC138/en/potgd", "type": "EvidenceNarrative", "narrative": "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. \\n\\nThe 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.", "evidenceDomainTag": "Nature of the Threat.Prevalence of the Genetic Disorder", "publication": [ "CG-AC:RF004011", "CG-AC:RF004012", "CG-AC:RF004013", "CG-AC:RF004014", "CG-AC:RF004015" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/en/nh", "id": "CG-AC:AC138/en/nh", "type": "EvidenceNarrative", "narrative": "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. \\n\\nDCM 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. \\n\\nThe 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.", "evidenceDomainTag": "Nature of the Threat.Natural History", "publication": [ "CG-AC:RF004011", "CG-AC:RF004013", "CG-AC:RF000632", "CG-AC:RF000251", "CG-AC:RF004018", "CG-AC:RF000637", "CG-AC:RF004019", "CG-AC:RF004020" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/en/cf", "id": "CG-AC:AC138/en/cf", "type": "EvidenceNarrative", "narrative": "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. Three genes in this report, FLNC, DES and BAG3, can also have skeletal myopathy features.", "evidenceDomainTag": "Nature of the Threat.Clinical Features", "publication": [ "CG-AC:RF004011", "CG-AC:RF004013", "CG-AC:RF004015", "CG-AC:RF000632", "CG-AC:RF004016", "CG-AC:RF000251" ] } ], "tieredEvidenceNarratives": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/CDEC3177", "id": "CG-AC:AC138/ten/CDEC3177", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "Not provided", "narrative": "Many similar diseases cause LV dilatation and systolic dysfunction. There can be genotypic and phenotypic overlap with other cardiomyopathies.", "evidenceDomainTag": "Condition Escape Detection.Chances to Escape Clinical Detection", "publication": [ "CG-AC:RF004013", "CG-AC:RF004016", "CG-AC:RF002786", "CG-AC:RF004028" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/CDEC3176", "id": "CG-AC:AC138/ten/CDEC3176", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "Not provided", "narrative": "ECG can be normal in a small proportion of individuals with DCM.", "evidenceDomainTag": "Condition Escape Detection.Chances to Escape Clinical Detection", "publication": [ "CG-AC:RF004011" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/CDEC3178", "id": "CG-AC:AC138/ten/CDEC3178", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "Not provided", "narrative": "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.", "evidenceDomainTag": "Condition Escape Detection.Chances to Escape Clinical Detection", "publication": [ "CG-AC:RF000632" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/NOI3079", "id": "CG-AC:AC138/ten/NOI3079", "type": "TieredEvidenceNarrative", "narrative": "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.", "evidenceDomainTag": "Acceptability of Intervention.Natures of Intervention", "publication": [ "CG-AC:RF004011", "CG-AC:RF004034", "CG-AC:RF004035" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/ACPE4758", "id": "CG-AC:AC138/ten/ACPE4758", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "The incidence of SCD in pediatric patients with DCM (genetic status unknown) is 1-5%.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF004028" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/ACPE4757", "id": "CG-AC:AC138/ten/ACPE4757", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "5", "narrative": "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: \\n•Atrial fibrillation: 33.6%\\n•Stroke: 3.2%\\n•Appropriate ICD therapy: 11.3%\\n•Aborted SCD: 3.5%\\n•Heart failure hospitalization: 37.6%\\n•Heart failure-related mortality: 4.6%\\n•Malignant ventricular arrhythmia-related mortality: 2.4%", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF004032" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/ACPE4759", "id": "CG-AC:AC138/ten/ACPE4759", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "5", "narrative": "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%.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF004012" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/ACPE4756", "id": "CG-AC:AC138/ten/ACPE4756", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "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).", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF000251" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/RR2811", "id": "CG-AC:AC138/ten/RR2811", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "Not provided", "narrative": "Information in relative risk was not available.", "evidenceDomainTag": "Threat Materialization Chances.Relative Risks" }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/EN3202", "id": "CG-AC:AC138/ten/EN3202", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "In some families, each relative with the same variant has a different disease state.", "evidenceDomainTag": "Threat Materialization Chances.Expressivity Notes", "publication": [ "CG-AC:RF004013" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/EN3204", "id": "CG-AC:AC138/ten/EN3204", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "DCM has variable expression throughout life.", "evidenceDomainTag": "Threat Materialization Chances.Expressivity Notes", "publication": [ "CG-AC:RF004011" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/EN3203", "id": "CG-AC:AC138/ten/EN3203", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "DCM has highly variable age of onset. DCM may present at any age from infancy to late adulthood.", "evidenceDomainTag": "Threat Materialization Chances.Expressivity Notes", "publication": [ "CG-AC:RF000632" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/PGM3109", "id": "CG-AC:AC138/ten/PGM3109", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "4", "narrative": "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).", "evidenceDomainTag": "Threat Materialization Chances.Prevalences of the Genetic Mutation", "publication": [ "CG-AC:RF000632", "CG-AC:RF000251", "CG-AC:RF000637" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/PGM3108", "id": "CG-AC:AC138/ten/PGM3108", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "5", "narrative": "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.", "evidenceDomainTag": "Threat Materialization Chances.Prevalences of the Genetic Mutation", "publication": [ "CG-AC:RF004030" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/ACPE4761", "id": "CG-AC:AC138/ten/ACPE4761", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "5", "narrative": "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: \\n•29% had normal Echo values\\n•8% had died\\n•24% had undergone heart transplant\\n•40% remained abnormal with respect to LV size or function", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF004033" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/ACPE4760", "id": "CG-AC:AC138/ten/ACPE4760", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "3", "narrative": "For high-risk genes, the annual rate of SCD is 5-10% (LMNA, FLNC-truncating variants) and 3-5% (PLN, DSP, RBM20).", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF004011" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/ten/ACPE4762", "id": "CG-AC:AC138/ten/ACPE4762", "type": "TieredEvidenceNarrative", "evidenceSourceTier": "1", "narrative": "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.", "evidenceDomainTag": "Threat Materialization Chances.Penetrances", "publication": [ "CG-AC:RF004031" ] } ], "tieredRecommendations": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7210", "id": "CG-AC:AC138/tr/ACPM7210", "type": "TieredRecommendation", "evidenceSourceTier": "1", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004027" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7212", "id": "CG-AC:AC138/tr/ACPM7212", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004013", "CG-AC:RF004014", "CG-AC:RF004015" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7214", "id": "CG-AC:AC138/tr/ACPM7214", "type": "TieredRecommendation", "evidenceSourceTier": "1", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004013", "CG-AC:RF004014", "CG-AC:RF004015" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7213", "id": "CG-AC:AC138/tr/ACPM7213", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "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).", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004011" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7211", "id": "CG-AC:AC138/tr/ACPM7211", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004011", "CG-AC:RF004016" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACSU4161", "id": "CG-AC:AC138/tr/ACSU4161", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF004021" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACSU4162", "id": "CG-AC:AC138/tr/ACSU4162", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Surveillances", "publication": [ "CG-AC:RF004011", "CG-AC:RF004016", "CG-AC:RF004021" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACCA3862", "id": "CG-AC:AC138/tr/ACCA3862", "type": "TieredRecommendation", "evidenceSourceTier": "Not provided", "recommendation": "Information on circumstances to avoid was not available.", "evidenceDomainTag": "Effectiveness of Intervention.Circumstances to Avoid" }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7193", "id": "CG-AC:AC138/tr/ACPM7193", "type": "TieredRecommendation", "evidenceSourceTier": "3", "recommendation": "There is no clear evidence that ICDs implanted for primary prevention in pediatric patients with nonischemic DCM improve survival.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004021", "CG-AC:RF004028" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7197", "id": "CG-AC:AC138/tr/ACPM7197", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "Primary prevention ICDs may be considered in pediatric patients with DCM and syncope or an LVEF ≤35%, despite optimal medical therapy", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004028" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7194", "id": "CG-AC:AC138/tr/ACPM7194", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "In children, an SGLT2 inhibitor may be considered, although their safety and effectiveness in children have not been systematically studied.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004021" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7196", "id": "CG-AC:AC138/tr/ACPM7196", "type": "TieredRecommendation", "evidenceSourceTier": "1", "recommendation": "Pharmacotherapy-SGLT2 inhibitor\nAn 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.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004015", "CG-AC:RF004024" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7198", "id": "CG-AC:AC138/tr/ACPM7198", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004020", "CG-AC:RF004021" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7199", "id": "CG-AC:AC138/tr/ACPM7199", "type": "TieredRecommendation", "evidenceSourceTier": "3", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004014" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7195", "id": "CG-AC:AC138/tr/ACPM7195", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004011", "CG-AC:RF004016" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7191", "id": "CG-AC:AC138/tr/ACPM7191", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "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).", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004011" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7192", "id": "CG-AC:AC138/tr/ACPM7192", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004011", "CG-AC:RF004013", "CG-AC:RF004014", "CG-AC:RF004015", "CG-AC:RF004021" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7190", "id": "CG-AC:AC138/tr/ACPM7190", "type": "TieredRecommendation", "evidenceSourceTier": "1", "recommendation": "Cine MRI is recommended to assess cardiac anatomy and function.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004013" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7203", "id": "CG-AC:AC138/tr/ACPM7203", "type": "TieredRecommendation", "evidenceSourceTier": "5", "recommendation": "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).", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004029" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7206", "id": "CG-AC:AC138/tr/ACPM7206", "type": "TieredRecommendation", "evidenceSourceTier": "1", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004026" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7207", "id": "CG-AC:AC138/tr/ACPM7207", "type": "TieredRecommendation", "evidenceSourceTier": "1", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004011", "CG-AC:RF004015" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7200", "id": "CG-AC:AC138/tr/ACPM7200", "type": "TieredRecommendation", "evidenceSourceTier": "1", "recommendation": "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).", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004025" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7208", "id": "CG-AC:AC138/tr/ACPM7208", "type": "TieredRecommendation", "evidenceSourceTier": "3", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004020" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7209", "id": "CG-AC:AC138/tr/ACPM7209", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "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].", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004015" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7201", "id": "CG-AC:AC138/tr/ACPM7201", "type": "TieredRecommendation", "evidenceSourceTier": "1", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004023" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7202", "id": "CG-AC:AC138/tr/ACPM7202", "type": "TieredRecommendation", "evidenceSourceTier": "1", "recommendation": "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).", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004022" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7205", "id": "CG-AC:AC138/tr/ACPM7205", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004011", "CG-AC:RF004013", "CG-AC:RF004016", "CG-AC:RF004021" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7204", "id": "CG-AC:AC138/tr/ACPM7204", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004011" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7189", "id": "CG-AC:AC138/tr/ACPM7189", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "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).", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004011", "CG-AC:RF004016", "CG-AC:RF002786" ] }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/tr/ACPM7188", "id": "CG-AC:AC138/tr/ACPM7188", "type": "TieredRecommendation", "evidenceSourceTier": "2", "recommendation": "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.", "evidenceDomainTag": "Effectiveness of Intervention.Patient Managements", "publication": [ "CG-AC:RF004020" ] } ] }, "evidenceCategory": { "outcomeEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei", "id": "CG-AC:AC138/oei", "type": "EvidenceItem", "natureOfTheThreat": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/nott", "id": "CG-AC:AC138/oei/nott", "type": "EvidenceLine", "prevalenceOfTheGeneticDisorder": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/pgd", "id": "CG-AC:AC138/oei/pgd", "type": "EvidenceItem", "keyText": "1-2 in 500", "sourceOfPopulation": "General population", "evidenceNarrative": { "@id": "CG-AC:AC138/en/potgd" } }, "clinicalFeatures": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/cf", "id": "CG-AC:AC138/oei/cf", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC138/en/cf" } }, "naturalHistory": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/nh", "id": "CG-AC:AC138/oei/nh", "type": "EvidenceItem", "evidenceNarrative": { "@id": "CG-AC:AC138/en/nh" } } }, "threatMaterializationChances": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/tmc", "id": "CG-AC:AC138/oei/tmc", "type": "EvidenceLine", "modeOfInheritance": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/moi", "id": "CG-AC:AC138/oei/moi", "type": "EvidenceItem", "keyText": "X-linked", "evidenceNarrative": { "@id": "CG-AC:AC138/en/ACMI2888" } }, "prevalenceOfTheGeneticMutation": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/pgm", "id": "CG-AC:AC138/oei/pgm", "type": "EvidenceItem", "keyText": "1-2 in 500", "sourceOfPopulation": "General population", "tieredEvidenceNarrative": { "@id": "CG-AC:AC138/ten/PGM3109" } }, "penetrance": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/pe/ACPE4756", "id": "CG-AC:AC138/oei/pe/ACPE4756", "type": "EvidenceItem", "keyText": ">= 40 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC138/ten/ACPE4756" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/pe/ACPE4759", "id": "CG-AC:AC138/oei/pe/ACPE4759", "type": "EvidenceItem", "keyText": "5-39 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC138/ten/ACPE4759" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/pe/ACPE4762", "id": "CG-AC:AC138/oei/pe/ACPE4762", "type": "EvidenceItem", "keyText": "1-4 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC138/ten/ACPE4762" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/pe/ACPE4760", "id": "CG-AC:AC138/oei/pe/ACPE4760", "type": "EvidenceItem", "keyText": "5-39 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC138/ten/ACPE4760" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/pe/ACPE4757", "id": "CG-AC:AC138/oei/pe/ACPE4757", "type": "EvidenceItem", "keyText": "5-39 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC138/ten/ACPE4757" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/pe/ACPE4761", "id": "CG-AC:AC138/oei/pe/ACPE4761", "type": "EvidenceItem", "keyText": "5-39 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC138/ten/ACPE4761" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/pe/ACPE4758", "id": "CG-AC:AC138/oei/pe/ACPE4758", "type": "EvidenceItem", "keyText": "1-4 %", "tieredEvidenceNarrative": { "@id": "CG-AC:AC138/ten/ACPE4758" } } ], "relativeRisk": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/rr/RR2811", "id": "CG-AC:AC138/oei/rr/RR2811", "type": "EvidenceItem", "keyText": "Unknown", "tieredEvidenceNarrative": { "@id": "CG-AC:AC138/ten/RR2811" } } ], "expressivity": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/ex/EN3203", "id": "CG-AC:AC138/oei/ex/EN3203", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC138/ten/EN3203" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/ex/EN3204", "id": "CG-AC:AC138/oei/ex/EN3204", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC138/ten/EN3204" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/oei/ex/EN3202", "id": "CG-AC:AC138/oei/ex/EN3202", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC138/ten/EN3202" } } ] } }, "interventionEvidenceItem": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/iei", "id": "CG-AC:AC138/iei", "type": "EvidenceItem", "acceptabilityOfIntervention": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/iei/aoi", "id": "CG-AC:AC138/iei/aoi", "type": "EvidenceLine", "natureOfIntervention": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/iei/noi/NOI3079", "id": "CG-AC:AC138/iei/noi/NOI3079", "type": "EvidenceItem", "tieredEvidenceNarrative": { "@id": "CG-AC:AC138/ten/NOI3079" } } ] }, "effectivenessOfIntervention": { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/iei/eoi", "id": "CG-AC:AC138/iei/eoi", "type": "EvidenceLine", "patientManagement": [ { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/iei/pm/ACPM7204", "id": "CG-AC:AC138/iei/pm/ACPM7204", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC138/tr/ACPM7204" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/iei/pm/ACPM7188", "id": "CG-AC:AC138/iei/pm/ACPM7188", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC138/tr/ACPM7188" } }, { "@id": "https://actionability.clinicalgenome.org/ac/Pediatric/api/sepio/doc/AC138/iei/pm/ACPM7211", "id": "CG-AC:AC138/iei/pm/ACPM7211", "type": "EvidenceItem", "tieredRecommendation": { "@id": "CG-AC:AC138/tr/ACPM7211" } }, { "@id": 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