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
...Diagnosis
...gure 1. Algorithm to consider the presence of...
...e 2. Arrhythmogenic cardiomyopathy...
...mon pathway and genetic mutations i...
...skeletal protein complexes within the card...
...ied Task Force criteria for ARVC – diagnostic...
...6. Representative 12-lead ECG obtaine...
...ssification of likelihood of patho...
...erent methods for screening genesa...
...al set of genes to be prioritized in ACM...
...Who to Study...
...and decedents with either a clinical or necro...
...testing of the established ACM-susceptib...
...ure 7. Cumulative prevalence of disease ex...
Treatment
...Treatment...
...Limitatio...
...erpretation of a cardiac genetic t...
...etic testing recommendations...
...Family his...
...ommended that a genetic counselor or...
...Age-relat...
...is recommended that first-degree relatives und...
...valuation should include 12-lead ECG, ambula...
...Cascade cardiac inves...
...tress testing (arrhythmia provocatio...
...Cascade...
...families with a variant classified as pa...
...re 9. Summary of cascade family scre...
...Risk strati...
...ion to implant an ICD in an individual w...
...duals with ACM who have suffered a...
...ith ACM who have sustained VT not hem...
...duals with ACM and syncope suspected to be due...
...with ARVC with hemodynamically toler...
...mplantation is reasonable for individuals with ARV...
...antation may be reasonable for individuals w...
...with ACM with LVEF 35% or lower and NYHA c...
In individuals with ACM with LVEF 35% or low...
...uals with ACM (other than ARVC) and hemo...
...n individuals with phospholamban cardiomyopathy a...
...ith lamin A/C ACM and two or more of the followin...
...uals with FLNC ACM and an LVE...
...ith lamin A/C ACM and an indication...
...: aNSVT, inducibility to VT at EPS, L...
...10. Implantable cardioverter defib...
Prevention
...P...
...Medical...
...with ACM and symptomatic right ventricular dysf...
...tomatic individuals with ACM and right ventricular...
...An...
...individuals with ACM, in the presence of atrial fi...
...c therapy may be reasonable in ind...
...Arrhythmia manageme...
...herapy is recommended in individuals wi...
...a-blocker therapy is reasonable in individu...
...one (IIb, B-NR)573...
...sotalol (IIb, C-LD)573...
Flecainide in combination with beta-blockers...
...e 11. Recommendations for ventricul...
...Medical therapy recommendations for arrhy...
...Role of catheter ablati...
...dividuals with ACM and recurrent sustained monomor...
...uals with ACM and recurrent symptoma...
In symptomatic individuals with ACM...
...dividuals with ACM and recurrent symptoma...
...gure 13. Catheter ablation recommend...
...Preventio...
...should counsel adolescent and adult i...
...th ARVC should not participate in...
...ise recommendations for individuals with ARVC...
...15. METS associated with common types of end...
Other Disorders
...Other Disorder...
...se mechanisms for ACM Cardiomyocyte sho...
...th symptomatic and asymptomatic individuals...
...n individuals with cardiac amyloidosis who have...
...individuals with cardiac amyloidosis, the use of...
...with cardiac amyloidosis and symptomatic atria...
...s with AL-type cardiac amyloidosis with non...
...individuals with cardiac amyloidosis and...
...gure 17. Amyloidosis arrhythmia treatment rec...
...Left v...
...d has a disease-causing gene variant,...
...uals with the clinical diagnosis of pathologic L...
...implantation is recommended for individuals...
...plantation is reasonable for individuals with...
...lation is recommended in individuals with LVN...
...gulation may be reasonable in individuals with...
...with suspected LVNC, the diagnostic crite...
...individuals with suspected LVNC and ventricular ar...
...ble 4. Diagnostic criteria for left ventricular...
...gure 18. Diagnosis and risk strati...
...9. LVNC treatment recommendations...