Non-ischemic Cardiomyopathy

Description

• Non-ischemic cardiomyopathies are a group of cardiovascular disorders classified based on ventricular morphology and include various types including dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), left ventricular noncompaction (LVNC), and restrictive cardiomyopathy (RCM).

How often is a hereditary cause identified?

• There are many known genetic etiologies of non-ischemic cardiomyopathies, and the overall diagnostic yield of genetic testing in an individual with cardiomyopathy is 30-50%. 

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

• Knowing the underlying genetic etiology for cardiomyopathy can help guide medical management for patients. For example, for some genetic causes, defibrillator placement is more likely to be recommended. 

How are these conditions inherited?

• Familial non-ischemic cardiomyopathy conditions are inherited in different patterns depending on the gene involved. There are genes involved that are known to have autosomal dominant, autosomal recessive and X-linked modes of inheritance. 

Where can I learn more about familial non-ischemic cardiomyopathy?

• Penn Medicine – Familial Cardiomyopathy Program

References

• Dellefave-Castillo LM, Cirino AL, Callis TE, Esplin ED, Garcia J, Hatchell KE, Johnson B, Morales A, Regalado E, Rojahn S, Vatta M, Nussbaum RL, McNally EM. Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing. JAMA Cardiol. 2022 Sep 1;7(9):966-974. doi: 10.1001/jamacardio.2022.2455. PMID: 35947370; PMCID: PMC9366660.