Sudden Death Genomics - Michael J. Ackerman

Functional subgroups of genetic HCM and the yield of genetic testing for the two most common septal morphologies with their respective subgroup. Shown are the most important functional subgroups of genetically mediated HCM and the yield of mutations over various cohorts. Blue arrows indicate the functional relationship between the different elements. The black arrows show the yield of genetic testing for the subgroups of myofilament HCM and Z-disc HCM and their morphologic subgroups. LAMP2, lysosome-associated membrane protein 2; PLN, phospholamban; PRKAG2, AMP-activated protein kinase; SR, sarcoplasmic reticulum;RyR2, cardiac ryanodine receptor.