p.41 抽出テキスト
September 25, 2018 Circulation. 2018;138:e272–e391. DOI: 10.1161/CIR.0000000000000549 e312 CLINICAL STATEMENTS AND GUIDELINES I B-NR 5. In patients with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy, avoiding intensive exercise is recommended.S7.3-11,S7.3-12,S7.3-16–S7.3-21 IIa B-NR 6. In patients with clinically diagnosed or suspected arrhythmogenic right ventricular cardiomyopathy, genetic counseling and genetic testing can be useful for diagnosis and for gene-specific targeted family screening.S7.3-1,S7.3-4,S7.3-22–S7.3-26 IIa B-NR 7. In patients with arrhythmogenic right ventricular cardiomyopathy and syncope presumed due to VA, an ICD can be useful if meaningful survival greater than 1 year is expected.S7.3-10,S7.3-11,S7.3-13 IIa B-NR 8. In patients with clinical evidence of arrhythmogenic right ventricular cardiomyopathy but not VA, a beta blocker can be useful.S7.3-14,S7.3-15 IIa B-NR 9. In patients with arrhythmogenic right ventricular cardiomyopathy and recurrent symptomatic sustained VT in whom a beta blocker is ineffective or not tolerated, catheter ablation with availability of a combined endocardial/epicardial approach can be beneficial.S7.3-27–S7.3-33 IIa B-NR 10. In patients with suspected arrhythmogenic right ventricular cardiomyopathy, a signal averaged ECG can be useful for diagnosis and risk stratification.S7.3-14,S7.3-34,S7.3-35 IIb B-NR 11. In asymptomatic patients with clinical evidence of arrhythmogenic right ventricular cardiomyopathy, an electrophysiological study may be considered for risk stratification.S7.3-9,S7.3-36 Synopsis Arrhythmogenic right ventricular cardiomyopathy is an inherited cardiomyopathy that predominantly affects the right ventricle but can affect the left ventricle causing areas of myocardial replacement with fibrosis and adipose tissue that frequently causes VA and SCD. Recommendation-Specific Supportive Text 1. Selected first-degree relatives refers to relatives who are willing to undergo further testing and who could benefit from further screening and testing (and not the terminally ill patients or those who do not want to be screened and tested). Arrhythmogenic right ventricular cardiomyopathy is often due to a mutation involving a desmosomal protein, and it usually has autosomal dominant inheritance with variable penetrance. SCD can be the initial manifestation of arrhythmogenic right ventricular cardiomyopathy. Clinical screening with ECG, cardiac imaging, and ambulatory rhythm monitoring and/or exercise testing may identify family members at risk for arrhythmogenic right ventricular cardiomyopathy. Arrhythmogenic right ventricular cardiomyopathy is detected clinically in approximately 35% to 40% of first-degree relatives,S7.3-3,S7.3-4 most commonly in siblings or symptomatic firstdegree relatives.S7.3-4 When a proband is identified with a disease-causing mutation, targeted genotype screening can identify mutation positive relatives,S7.3-1 with approximately 35% of mutation positive individuals ultimately developing progressive disease expression.S7.3-1,S7.3-4 In studies of arrhythmogenic right ventricular cardiomyopathy mutation-positive individuals who do not initially manifest the disease, 8% to 16% have a major arrhythmic event over the next 7 to 39 years.S7.3-1,S7.3-4,S7.3-26 Early identification of affected or potentially affected family members can allow lifestyle modifications in sports participation and serial monitoring for development of electrocardiographic abnormalities, symptoms, ventricular dysfunction, or arrhythmia. As genetic testing for arrhythmogenic right ventricular cardiomyopathy has subtle complexities, the decision to proceed with family screening is facilitated by informed genetic counseling to discuss the cost of testing, the potential lack of a single gene as the determinant for disease expression, psychological implications of uncertain disease progression, and implications for lifestyle modification, screening, and potential treatment. 2. Cardiac MRI provides high-quality assessment of ventricular function, size, regional wall motion abnormalities, and extent of scar and fibrosis (late gadolinium enhancement) that are seen in 30% to 95% of patients with the clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy.S7.3-5,S7.3-6,S7.3-37,S7.3-38 Cardiac MRI detects biventricular involvement in 34% to 56% of patients, with isolated LV involvement noted in 4% to 9% of patients.S7.3-37–S7.3-40 Cardiac MRI should include assessment of late gadolinium enhancement with quantification of fibrosis. Application of the 2010 Task Force Criteria to cardiac MRI criteria for diagnosis of arrhythmogenic right ventricular cardiomyopathy has improved the specificity of this test.S7.3- 5,S7.3-8 Electrocardiographic and Holter findings precede detectable cardiac MRI abnormalities in arrhythmogenic right ventricular cardiomyopathy mutation-positive individuals, with only 4% of patients with normal electrocardiographic and Holter results having cardiac MRI abnormalities, Recommendations for Arrhythmogenic Right Ventricular Cardiomyopathy (Continued) COR LOE Recommendations Downloaded from http://ahajournals.org by on October 7, 2026