Majoradvanceshavebeenmadeoverthelastdecadeinourunderstandingofthemolecularbasisofseveralcardiacconditions.Hypertrophiccardiomyopathy(HCM)wasthefirstcardiacdisorderinwhichageneticbasiswasidentifiedandassuch,hasactedasaparadigmforthestudyofaninheritedcardiacdisorder.HCMcanresultinclinicalsymptomsrangingfromnosymptomstosevereheartfailureandprematuresuddendeath.HCMisthecommonestcauseofsuddendeathinthoseagedlessthan35years,includingcompetitiveathletes.Atleasttengeneshavenowbeenidentified,defectsinwhichcauseHCM.Allofthesegenesencodeproteinswhichcomprisethebasiccontractileunitoftheheart,i.e.thesarcomere.Whilemuchisnowknownaboutwhichgenescausediseaseandthevariousclinicalpresentations,verylittleisknownabouthowthesegenedefectscausedisease,andwhatfactorsmodifytheexpressionofthemutantgenes.StudiesinbothcellcultureandanimalmodelsofHCMarenowbeginningtoshedlightonthesignallingpathwaysinvolvedinHCM,andtheroleofbothenvironmentalandgeneticmodifyingfactors.Understandingthesemechanismswillultimatelyimproveourknowledgeofthebasicbiologyofheartmusclefunction,andwillthereforeprovidenewavenuesfortreatingcardiovasculardiseaseinman.
