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

Diagno...

...thm to consider the presence of ACM...


...ure 2. Arrhythmogenic cardiomyopathyHaving troubl...


...Common pathway and genetic mutation...


...keletal protein complexes within the cardio...


...ified Task Force criteria for ARVC – diagnostic...


...ure 6. Representative 12-lead ECG obta...


...assification of likelihood of pathogenicity...


...le 2. Different methods for screening gen...


...mal set of genes to be prioritized in ACMHaving...


...o to Stu...

...ividuals and decedents with either a c...

...r genetic testing of the established A...


...ure 7. Cumulative prevalence of disease expres...


Treatment

...atment...

...ions of genetic testing ...

...nterpretation of a cardiac genetic tes...


...re 8. Genetic testing recommenda...


...ly history...

...nded that a genetic counselor or appropriately exp...


...e-related penetrance of disease in at-risk...

...ommended that first-degree relatives un...

...valuation should include 12-lead ECG,...


...cardiac investigations...

...testing (arrhythmia provocation) may be consider...


...cade genetic testing

...a variant classified as pathogenic, it may...


...ry of cascade family screening rec...


...stratification and ICD d...

...o implant an ICD in an individual with ACM shoul...

...individuals with ACM who have suffered...

...with ACM who have sustained VT not hem...

In individuals with ACM and syncope suspected t...

...with ARVC with hemodynamically tol...

...mplantation is reasonable for individuals with...

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

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

...ith ACM with LVEF 35% or lower and NYHA class I...

...viduals with ACM (other than ARVC) and hemodynam...

...ith phospholamban cardiomyopathy and LVE...

...dividuals with lamin A/C ACM and two or more of t...

...duals with FLNC ACM and an L...

...ividuals with lamin A/C ACM and an...

...jor criteria: aNSVT, inducibility to VT at EPS,...

...Implantable cardioverter defibrillator recommen...


Prevention

...evention...

...erapies for right ventricular failure

...with ACM and symptomatic right ventr...

...ptomatic individuals with ACM and right...


...tithrombotic therapy in...

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

...ombotic therapy may be reasonable in individ...


Arrhythmia man...

...herapy is recommended in individuals...

Beta-blocker therapy is reasonable in individu...

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

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

...lecainide in combination with beta-blockers and...


...ecommendations for ventricular dysfunct...


.... Medical therapy recommendations for arrhythmias...


...f catheter ablatio...

...n individuals with ACM and recurrent...

...individuals with ACM and recurrent symptoma...

...tomatic individuals with ACM and a high burde...

...viduals with ACM and recurrent symptomatic...


...igure 13. Catheter ablation recommendations for...


...n of Disease Progression


...ise and other ACM...

...icians should counsel adolescent and adult i...

...h ARVC should not participate in c...


...ercise recommendations for individuals with ARVC...


...igure 15. METS associated with common ty...


Other Disorders

...r Disorder...

Figure 16. Disease mechanisms for ACMCardiom...


Amyloidosis

...tomatic and asymptomatic individuals with car...

...uals with cardiac amyloidosis who have su...

...duals with cardiac amyloidosis, the u...

...with cardiac amyloidosis and symptom...

...iduals with AL-type cardiac amyloidos...

...ndividuals with cardiac amyloidosis and...

...oidosis arrhythmia treatment recommend...


Left ventricular noncompaction treatme...

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

...viduals with the clinical diagnosis of pathologic...

...ntation is recommended for individuals with LVNC...

...implantation is reasonable for individuals with L...

...agulation is recommended in individuals with L...

...gulation may be reasonable in indi...

In individuals with suspected LVNC, the diagnostic...

...n individuals with suspected LVNC and v...

...agnostic criteria for left ventricular noncompac...

...ure 18. Diagnosis and risk stratification of LVN...

...LVNC treatment recommendations...