Arrhythmogenic Cardiomyopathy

Description

  • Arrhythmogenic cardiomyopathy (ACM) is a condition in the myocardium, the heart's muscular wall. A defect in proteins that connect heart muscle cells (myocytes) causes the cells to die. They are replaced by scar tissue and fatty cells. A subset of ACM that affects the right ventricle disproportionately is called arrhythmic right ventricular cardiomyopathy (ARVC) or arrhythmogenic right ventricular dysplasia (ARVD). Up to 60% of patients with ARVC will have a hereditary cause identified.

How often is a hereditary cause identified?

  • Patients a hereditary cause of ACM are often found to have genetic variants in the genes that encode for cardiac desmosomal proteins.

  • Up to 60% of patients with ARVC will have a hereditary cause identified, and overall genetic testing identifies an underlying etiology in 30-50%.

How does identifying a hereditary cause change a patient’s medical management?

  • Identifying a genetic etiology of ACM can help determine prognosis, as well as identify those in need of clinical monitoring or intervention to decrease the risk of morbidity or mortality.

How are these conditions inherited?

  • The genetic basis of ACM is complex and there are several different patterns of inheritance observed including autosomal dominant, autosomal recessive, compound heterozygous and digenic inheritance.

Where can I learn more about hereditary arrhythmogenic cardiomyopathy?

References

  • Teekakirikul P, Kelly MA, Rehm HL, Lakdawala NK, Funke BH. Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagn. 2013 Mar;15(2):158-70. doi: 10.1016/j.jmoldx.2012.09.002. Epub 2012 Dec 27. PMID: 23274168.

  • Gerull B, Brodehl A. Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy. Curr Heart Fail Rep. 2021 Dec;18(6):378-390. doi: 10.1007/s11897-021-00532-z. Epub 2021 Sep 3. PMID: 34478111; PMCID: PMC8616880.