Evaluation, Risk Stratification, and Management of Arrhythmogenic Cardiomyopathy
Key Points
Key Points
- Arrhythmogenic cardiomyopathy (ACM) is defined as an arrhythmogenic heart muscle disorder not explained by ischemic, hypertensive, or valvular heart disease.
- ACM incorporates a broad spectrum of genetic, systemic, infectious, and inflammatory disorders. This designation includes, but is not limited to, arrhythmogenic right ventricular cardiomyopathy (ARVC), arrhythmogenic left ventricular cardiomyopathy (ALVC), cardiac amyloidosis, sarcoidosis, Chagas disease and left ventricular noncompaction.
- The etiology may be part of a systemic disorder (e.g. sarcoidosis, amyloidosis), an apparently isolated cardiac abnormality (e.g., myocarditis), an infection (e.g., Chagas disease) or may be genetic (e.g., desmosomal ARVC or ALVC, lamin A/C, filamin C, phospholamban) with particular phenotypic (cardiac, cutaneous, immunologic) features (Figure 1 and Figure 2).
- A distinguishing feature of ACM is the clinical presentation with documented and/or symptomatic arrhythmia (e.g., atrial fibrillation, conduction disease, ARVC and/or ALVC (Figure 1).
- Clinical evaluation for diagnosis and management of ACM should assess genetic and nongenetic causes with assessment of electrocardiographic and structural abnormalities and arrhythmic risk.
Diagnosis
...agnosis...
...ithm to consider the presence of ACM...
...2. Arrhythmogenic cardiomyopathyHavin...
...n pathway and genetic mutations in...
...toskeletal protein complexes within the c...
...Modified Task Force criteria for ARVC –...
...Representative 12-lead ECG obtained fr...
...ification of likelihood of pathogen...
...fferent methods for screening genesaHaving trouble...
...able 3. Minimal set of genes to be...
...ho to St...
...dividuals and decedents with either a...
For genetic testing of the establish...
...gure 7. Cumulative prevalence of disease expre...
Treatment
Treatmen...
...tations of genetic testing ...
...tation of a cardiac genetic test by a...
...etic testing recommendations...
...mily histo...
...mmended that a genetic counselor or appropriately...
...penetrance of disease in at-risk relatives...
...mmended that first-degree relative...
...evaluation should include 12-lead ECG, a...
...ardiac investigation...
...ise stress testing (arrhythmia provocation) m...
...cade genetic testing...
...milies with a variant classified as pathogenic, it...
...9. Summary of cascade family screening recomme...
...stratification and ICD de...
...ion to implant an ICD in an individual with...
...dividuals with ACM who have suffer...
...ndividuals with ACM who have susta...
...duals with ACM and syncope suspect...
...ndividuals with ARVC with hemodynamically to...
...plantation is reasonable for individuals with AR...
...n may be reasonable for individuals with...
...viduals with ACM with LVEF 35% or lowe...
...viduals with ACM with LVEF 35% or lower...
...ith ACM (other than ARVC) and hemodynam...
...uals with phospholamban cardiomyopathy and LV...
...with lamin A/C ACM and two or more of...
...ls with FLNC ACM and an LVEF...
...uals with lamin A/C ACM and an indication...
...riteria: aNSVT, inducibility to VT at EPS,...
...re 10. Implantable cardioverter defibrilla...
Prevention
...vention...
...erapies for right ventricular failure...
...uals with ACM and symptomatic right ve...
In symptomatic individuals with ACM a...
...thrombotic therapy in ACM...
For individuals with ACM, in the presence of atri...
...otic therapy may be reasonable in indivi...
...rhythmia management...
...ta-blocker therapy is recommended in individu...
...therapy is reasonable in individuals wi...
...one (IIb, B-NR)573...
and sotalol (IIb, C-LD)573
...ombination with beta-blockers and in the ab...
...11. Recommendations for ventricular dy...
...ure 12. Medical therapy recommendations for arrhyt...
...f catheter ablation...
...n individuals with ACM and recurrent...
...individuals with ACM and recurrent symptoma...
...c individuals with ACM and a high bur...
...als with ACM and recurrent symptomati...
...13. Catheter ablation recommendations for indiv...
...on of Disease Progression
...ercise and other...
...linicians should counsel adolescent and adult i...
...duals with ARVC should not participate in compet...
...e 14. Exercise recommendations for indivi...
.... METS associated with common types of end...
Other Disorders
...er Disorders
...e 16. Disease mechanisms for ACMCardiomyocyt...
...loidosis...
...atic and asymptomatic individuals with c...
...dividuals with cardiac amyloidosis who have su...
...iduals with cardiac amyloidosis, the use of di...
...ividuals with cardiac amyloidosis and s...
...individuals with AL-type cardiac amyloidosis with...
...n individuals with cardiac amyloidosis and sympt...
Figure 17. Amyloidosis arrhythmia treatment reco...
...ular noncompaction treatment...
...e proband has a disease-causing gene vari...
...ndividuals with the clinical diagnosis...
...ion is recommended for individuals with L...
...lantation is reasonable for individua...
...lation is recommended in individuals...
...nticoagulation may be reasonable in individuals...
...ith suspected LVNC, the diagnostic cr...
...viduals with suspected LVNC and ven...
...stic criteria for left ventricular non...
...igure 18. Diagnosis and risk stratifi...
...19. LVNC treatment recommendations...