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...
...rithm to consider the presence of ACM...
...gure 2. Arrhythmogenic cardiomyopath...
...ommon pathway and genetic mutations i...
...keletal protein complexes within the cardiomyoc...
...Modified Task Force criteria for ARVC – diagnos...
...ure 6. Representative 12-lead ECG obt...
...assification of likelihood of pathogenicity of a v...
...le 2. Different methods for screening gene...
...imal set of genes to be prioritized in ACMHavi...
...o to Study...
...viduals and decedents with either a cl...
...ting of the established ACM-susceptibility ge...
...e 7. Cumulative prevalence of disease expressi...
Treatment
...eatment
...imitations of genetic test...
...terpretation of a cardiac genetic test by a t...
Figure 8. Genetic testing recommenda...
...ly history...
...t is recommended that a genetic couns...
...ge-related penetrance of disease in a...
It is recommended that first-degree relatives und...
...ular evaluation should include 12-lead EC...
...de cardiac investigations...
Exercise stress testing (arrhythmia provocation) m...
...de genetic testi...
...ies with a variant classified as pa...
...9. Summary of cascade family screening...
...fication and ICD decisions...
...implant an ICD in an individual with ACM shoul...
...ndividuals with ACM who have suffered a cardi...
...ith ACM who have sustained VT not hemod...
...viduals with ACM and syncope suspected to b...
...with ARVC with hemodynamically tolerat...
...antation is reasonable for individuals with...
...may be reasonable for individuals w...
...viduals with ACM with LVEF 35% or lower and NY...
...ith ACM with LVEF 35% or lower and NYHA class I sy...
...viduals with ACM (other than ARVC)...
...ividuals with phospholamban cardiomyopathy and LVE...
...n individuals with lamin A/C ACM and two...
...individuals with FLNC ACM and an LVEF...
...ith lamin A/C ACM and an indication for pacing, a...
...ria: aNSVT, inducibility to VT at EPS, L...
...ure 10. Implantable cardioverter de...
Prevention
...reventio...
...apies for right ventricular failure...
...s with ACM and symptomatic right ventricular...
...ic individuals with ACM and right ventricular...
...ombotic therapy in ACM...
...dividuals with ACM, in the presence of atrial fi...
...tithrombotic therapy may be reasonable in in...
...mia management...
...-blocker therapy is recommended in individuals w...
...cker therapy is reasonable in individuals with...
...miodarone (IIb, B-N...
...and sotalol (IIb, C-...
...ide in combination with beta-blockers an...
...mendations for ventricular dysfunction and antit...
...12. Medical therapy recommendations for arrhyt...
Role of catheter ablati...
...viduals with ACM and recurrent sustained mono...
...duals with ACM and recurrent symptom...
...symptomatic individuals with ACM and a...
Individuals with ACM and recurrent sym...
.... Catheter ablation recommendations for i...
...vention of Disease Progr...
...ercise and other ACM...
...d counsel adolescent and adult indiv...
...with ARVC should not participate in...
Figure 14. Exercise recommendations fo...
...TS associated with common types of endurance e...
Other Disorders
...r Disorders...
...16. Disease mechanisms for ACMCardiomyocyte show...
...myloidosis
...atic and asymptomatic individuals wi...
...individuals with cardiac amyloidosis w...
...uals with cardiac amyloidosis, the use of...
...viduals with cardiac amyloidosis and sy...
...duals with AL-type cardiac amyloid...
In individuals with cardiac amyloidosis and sympt...
...7. Amyloidosis arrhythmia treatment reco...
...ventricular noncompaction trea...
...the proband has a disease-causing gene v...
...als with the clinical diagnosis of pathologic...
...on is recommended for individuals...
...D implantation is reasonable for individuals...
...lation is recommended in individuals with L...
...oagulation may be reasonable in individuals wi...
...ls with suspected LVNC, the diagnostic crite...
...ith suspected LVNC and ventricular arrh...
...Diagnostic criteria for left ventricular noncomp...
Figure 18. Diagnosis and risk stratification of...
...19. LVNC treatment recommenda...