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
...gnosis...
...rithm to consider the presence of ACM...
...gure 2. Arrhythmogenic cardiomyopathyHaving trou...
...e 3. Common pathway and genetic mutations in a pat...
Figure 4. Cytoskeletal protein complexes w...
...Modified Task Force criteria for ARVC –...
...e 6. Representative 12-lead ECG obtained fro...
...fication of likelihood of pathogenicity of a vari...
...able 2. Different methods for screening...
...3. Minimal set of genes to be prioritized...
...o to Study
...uals and decedents with either a clinical...
...genetic testing of the established ACM-su...
...7. Cumulative prevalence of disease expressio...
Treatment
...reatment...
...ons of genetic testing...
...tation of a cardiac genetic test by a team of prov...
...8. Genetic testing recommendations...
...mily histo...
...is recommended that a genetic counselor...
...penetrance of disease in at-risk relatives...
...t is recommended that first-degree relat...
...lar evaluation should include 12-lead ECG,...
...cardiac investigations...
...tress testing (arrhythmia provocatio...
Cascade genetic testing
...families with a variant classified as...
...re 9. Summary of cascade family screening recom...
...ication and ICD decisions...
...implant an ICD in an individual wit...
...n individuals with ACM who have suffered...
...ividuals with ACM who have sustained VT not hemo...
...with ACM and syncope suspected to be...
...viduals with ARVC with hemodynamically...
...implantation is reasonable for individuals with A...
...CD implantation may be reasonable for in...
...individuals with ACM with LVEF 35% or lower and N...
...ls with ACM with LVEF 35% or lower a...
...ls with ACM (other than ARVC) and...
...individuals with phospholamban cardiomy...
...uals with lamin A/C ACM and two or more...
...individuals with FLNC ACM and...
...with lamin A/C ACM and an indication...
Major criteria: aNSVT, inducibility to VT at EPS,...
...mplantable cardioverter defibrillator recommen...
Prevention
...revention...
...edical therapies for right ventric...
...uals with ACM and symptomatic right ventricular...
...symptomatic individuals with ACM and right vent...
...hrombotic therapy in ACM
...individuals with ACM, in the presence of atr...
...mbotic therapy may be reasonable in individuals w...
...hmia management...
...therapy is recommended in individua...
...therapy is reasonable in individuals w...
...darone (IIb, B-NR)573...
...nd sotalol (IIb, C-LD)573
...e in combination with beta-blockers and in the...
...Recommendations for ventricular dysfunction and...
...e 12. Medical therapy recommendations for a...
...of catheter ablat...
...with ACM and recurrent sustained monomorphic VT...
...ls with ACM and recurrent symptomat...
...ndividuals with ACM and a high burden of ventricul...
...ith ACM and recurrent symptomatic sustain...
...3. Catheter ablation recommendations for individua...
...revention of Disease Progressio...
...e and other ACM
...linicians should counsel adolescent a...
...dividuals with ARVC should not part...
...re 14. Exercise recommendations for indivi...
...associated with common types of endurance e...
Other Disorders
...her Disorde...
...6. Disease mechanisms for ACMCardiomyocyt...
...loidosis...
...omatic and asymptomatic individuals with cardiac...
...ndividuals with cardiac amyloidosis who have s...
...individuals with cardiac amyloidosis, the use of...
...individuals with cardiac amyloidosis and sy...
...n individuals with AL-type cardiac amyloidosis...
...als with cardiac amyloidosis and symptomat...
...igure 17. Amyloidosis arrhythmia treatment rec...
...ntricular noncompaction treat...
...f the proband has a disease-causing gene variant...
...als with the clinical diagnosis of patholo...
...implantation is recommended for individuals with...
...tion is reasonable for individuals with LVNC and...
...coagulation is recommended in individuals with...
...tion may be reasonable in individuals with...
...duals with suspected LVNC, the diagnostic c...
...duals with suspected LVNC and ventricu...
...able 4. Diagnostic criteria for left ventricul...
...osis and risk stratification of LV...
...NC treatment recommendations...