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Compound genetic mutations leading to complex phenotype in the setting of cardiomyopathies represent an important challenge in clinical practice, and genetic tests allow risk stratification and personalized clinical management of patients. We report a case of a 50\u2010year\u2010old woman with congestive heart failure characterized by dilated cardiomyopathy, diffuse coronary disease, complete atrioventricular block, and missense mutations in cardiac myosin\u2010binding protein C (<jats:italic>MYBPC3<\/jats:italic>) and myopalladin (<jats:italic>MYPN<\/jats:italic>). We discuss the plausible role of genetic profile in phenotype determination.<\/jats:p>","DOI":"10.1111\/anec.12687","type":"journal-article","created":{"date-parts":[[2019,9,16]],"date-time":"2019-09-16T10:10:12Z","timestamp":1568628612000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Double missense mutations in cardiac myosin\u2010binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy"],"prefix":"10.1111","volume":"25","author":[{"given":"Sandra","family":"Mastroianno","sequence":"first","affiliation":[{"name":"Cardiovascular Department Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pietro","family":"Palumbo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Castellana","sequence":"additional","affiliation":[{"name":"Bioinformatic Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo\u2013Istituto Mendel Roma Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Pia","family":"Leone","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raimondo","family":"Massaro","sequence":"additional","affiliation":[{"name":"Cardiovascular Department Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Domenico Rosario","family":"Potenza","sequence":"additional","affiliation":[{"name":"Cardiovascular Department Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tommaso","family":"Mazza","sequence":"additional","affiliation":[{"name":"Bioinformatic Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo\u2013Istituto Mendel Roma Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aldo","family":"Russo","sequence":"additional","affiliation":[{"name":"Cardiovascular Department Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Castori","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Carella","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1758-7138","authenticated-orcid":false,"given":"Giuseppe","family":"Di Stolfo","sequence":"additional","affiliation":[{"name":"Cardiovascular Department Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,9,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.09.008"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00380-016-0920-0"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvm015"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr540"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr122"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033886"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0012823"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(02)02957-1"},{"issue":"46","key":"e_1_2_9_10_1","first-page":"1062","article-title":"ClinVar: Improving access to variant interpretations and supporting evidence","volume":"2018","author":"Landrum M. 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