Key result
Hypertrophic cardiomyopathy is a genetically heterogeneous disease primarily caused by mutations in sarcomere proteins, leading to calcium dysregulation, left ventricular outflow tract obstruction, and diastolic dysfunction.
This review provides a comprehensive overview of the genetic basis and pathophysiological mechanisms, such as calcium dysregulation and left ventricular outflow tract obstruction, underlying hypertrophic cardiomyopathy.
No takes yet. Share an insight, caveat, or question.
May guide HCM research priorities; leaves open genotype-specific therapies pending prospective validation.
Vatutin et al. (2014) conducted a review in Hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy is a genetically heterogeneous disease primarily caused by mutations in sarcomere proteins, leading to calcium dysregulation, left ventricular outflow tract obstruction, and diastolic dysfunction.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: