Evaluation, Risk Stratification, and Management of Arrhythmogenic Cardiomyopathy

Publication Date: May 13, 2019

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

...iagnosi...

...igure 1. Algorithm to consider the pre...


...igure 2. Arrhythmogenic cardiomyopa...


...n pathway and genetic mutations in a patient wi...


.... Cytoskeletal protein complexes within the cardi...


...odified Task Force criteria for ARVC – diagnost...


...sentative 12-lead ECG obtained from...


...able 1. Classification of likelihood of path...


...Different methods for screening genesaH...


...imal set of genes to be prioritized i...


...to Study...

...dividuals and decedents with either a cli...

...esting of the established ACM-susceptibility genes...


...lative prevalence of disease expression in fam...


Treatment

Treatment

...ions of genetic testing ...

...nterpretation of a cardiac genetic test b...


...etic testing recommendations...


...ly history...

...ed that a genetic counselor or appropriatel...


...trance of disease in at-risk relativ...

...recommended that first-degree relatives undergo...

...ar evaluation should include 12-lead E...


Cascade cardiac investigations

...ess testing (arrhythmia provocation) may be consi...


...ade genetic testi...

In families with a variant classified as patho...


...y of cascade family screening reco...


...tification and ICD decisions

...n to implant an ICD in an individual wit...

...ividuals with ACM who have suffered...

...duals with ACM who have sustained VT...

...ndividuals with ACM and syncope suspected to be du...

...duals with ARVC with hemodynamically tolerated sus...

...lantation is reasonable for individuals wi...

...on may be reasonable for individuals with ARVC...

...with ACM with LVEF 35% or lower and NYHA...

...ndividuals with ACM with LVEF 35% or low...

...individuals with ACM (other than ARVC) and hemodyn...

...n individuals with phospholamban car...

...ividuals with lamin A/C ACM and two or m...

...ividuals with FLNC ACM and an LVEF...

...n individuals with lamin A/C ACM and an i...

...iteria: aNSVT, inducibility to VT at EPS,...

...antable cardioverter defibrillator re...


Prevention

...eventio...

...rapies for right ventricular failure...

...individuals with ACM and symptomatic...

...symptomatic individuals with ACM and right...


...ithrombotic therapy in...

...individuals with ACM, in the presence of a...

...thrombotic therapy may be reasonable...


...ythmia management...

...ker therapy is recommended in individuals wi...

...cker therapy is reasonable in indivi...

...arone (IIb, B-NR)573...

...sotalol (IIb, C-LD)573...

...de in combination with beta-blockers...


...11. Recommendations for ventricular dysfunction...


...ical therapy recommendations for a...


...le of catheter abla...

...s with ACM and recurrent sustained monomorph...

In individuals with ACM and recurrent symptomati...

In symptomatic individuals with ACM and a hi...

...iduals with ACM and recurrent symptom...


...Catheter ablation recommendations for individual...


...vention of Disease Progression...


...rcise and other AC...

...inicians should counsel adolescent and adult in...

...uals with ARVC should not participate in competit...


...14. Exercise recommendations for indiv...


...15. METS associated with common types of endu...


Other Disorders

...er Disorder...

...gure 16. Disease mechanisms for ACMCardiom...


...myloidosis...

...oth symptomatic and asymptomatic individuals...

...duals with cardiac amyloidosis who have su...

...dividuals with cardiac amyloidosis...

...ividuals with cardiac amyloidosis and symptomatic...

...als with AL-type cardiac amyloidosis with no...

...individuals with cardiac amyloidosis a...

...yloidosis arrhythmia treatment recommendati...


...cular noncompaction treatment...

...as a disease-causing gene variant,...

...ndividuals with the clinical diagnosi...

...antation is recommended for individuals with...

...ation is reasonable for individuals with...

...ation is recommended in individuals with LVNC wi...

...on may be reasonable in individuals...

...dividuals with suspected LVNC, the diagn...

...individuals with suspected LVNC a...

...4. Diagnostic criteria for left ventricul...

...re 18. Diagnosis and risk stratification of LVNC (...

...VNC treatment recommendation...