Association of cardiomyopathy with MYBPC3 D389V and MYBPC3Δ25bpIntronic deletion in South Asian descendants

SK Viswanathan, MJ Puckelwartz, A Mehta… - JAMA …, 2018 - jamanetwork.com
Importance The genetic variantMYBPC3Δ25bpoccurs in 4% of South Asian descendants,
with an estimated 100 million carriers worldwide. MYBPC3 Δ25bphas been linked to
cardiomyopathy and heart failure. However, the high prevalence ofMYBPC3Δ25bpsuggests
that other stressors act in concert withMYBPC3Δ25bp. Objective To determine whether there
are additional genetic factors that contribute to the cardiomyopathic expression
ofMYBPC3Δ25bp. Design, Setting, andParticipants South Asian individuals living in the …