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GTR Home > Conditions/Phenotypes > Hypertrophic cardiomyopathy 1


Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). Such LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic disease capable of producing the observed magnitude of increased LV wall thickness, such as pressure overload (e.g., long-standing hypertension, aortic stenosis) or storage/infiltrative disorders (e.g., Fabry disease, amyloidosis). The clinical manifestations of HCM range from asymptomatic LVH to progressive heart failure to sudden cardiac death (SCD), and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood. [from NCBI]

Genes See tests for all associated and related genes

  • Also known as: LGMD1C, LQT9, MPDT, RMD2, VIP-21, VIP21, CAV3
    Summary: caveolin 3

  • Also known as: ASD3, CMD1EE, CMH14, MYHC, MYHCA, SSS3, alpha-MHC, MYH6
    Summary: myosin heavy chain 6

  • Also known as: CMD1S, CMH1, CMYP7A, CMYP7B, MPD1, MYHCB, SPMD, SPMM, MYH7
    Summary: myosin heavy chain 7

  • Also known as: KMLC, MLCK, MLCK2, skMLCK, MYLK2
    Summary: myosin light chain kinase 2

Clinical features


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