Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.
Markus KraneMartina DreßenGianluca SantamariaIlaria MyChristine M SchneiderTatjana DornSvenja LaueElisa MastantuonoRiccardo BeruttiHilansi RawatRalf GilsbachPedro SchneiderHarald LahmSascha SchwarzStefanie A DopplerSharon L PaigeNazan PulucaSophia DollIrina NebThomas BradeZhong ZhangClaudia Abou-AjramBernd H NorthoffLesca M HoldtStefanie SudhopMakoto SaharaAlexander GoedelAndreas DendorferFleur V Y TjongMaria E RijlaarsdamJulie CleuziouNora LangChristian KupattConnie R BezzinaRüdiger LangeNeil E BowlesMatthias MannBruce D GelbLia CrottiLutz HeinThomas MeitingerSean M WuDaniel SinneckerPeter J GruberKarl-Ludwig LaugwitzAlessandra MorettiPublished in: Circulation (2021)
Our results highlight that despite genetic heterogeneity in HLHS, many mutations converge on sequential cellular processes primarily driving cardiac myogenesis, suggesting novel therapeutic approaches.