{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T01:02:30Z","timestamp":1783386150016,"version":"3.54.6"},"reference-count":29,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2018,2,20]]},"abstract":"<jats:sec xml:lang=\"en\">\n            <jats:title>Background<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              Mutations of \u03b1\u2010actin gene (\n              <jats:styled-content style=\"fixed-case\">ACTC<\/jats:styled-content>\n              1) have been phenotypically related to various cardiac anomalies, including hypertrophic cardiomyopathy and dilated cardiomyopathy and left ventricular (LV) myocardial noncompaction. A novel\n              <jats:styled-content style=\"fixed-case\">ACTC<\/jats:styled-content>\n              mutation is reported as cosegregating for familial hypertrophic cardiomyopathy and LV myocardial noncompaction with transmural crypts.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Methods and Results<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              In an Italian family of 7 subjects, 4 aged 10 (\n              <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content>\n              \u20101), 14 (\n              <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content>\n              \u20102), 43 (I\u20104) and 46 years (I\u20105), presenting abnormal\n              <jats:styled-content style=\"fixed-case\">ECG<\/jats:styled-content>\n              changes, dyspnea and palpitation (\n              <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content>\n              \u20102, I\u20104, and I\u20105), and recurrent cerebral ischemic attack (I\u20105), underwent 2\u2010dimensional echo, cardiac magnetic resonance, Holter monitoring, and next\u2010generation sequencing gene analysis. Patients\n              <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content>\n              \u20102 and I\u20105 with ventricular tachycardia underwent a cardiac invasive study, including coronary with LV angiography and endomyocardial biopsy. In all the affected members,\n              <jats:styled-content style=\"fixed-case\">ECG<\/jats:styled-content>\n              showed right bundle branch block and left anterior hemiblock with age\u2010related prolongation of\n              <jats:styled-content style=\"fixed-case\">QRS<\/jats:styled-content>\n              duration. Two\u2010dimensional echo and cardiac magnetic resonance documented LV myocardial noncompaction in all and in I\u20104, I\u20105, and\n              <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content>\n              \u20102 a progressive\n              <jats:styled-content style=\"fixed-case\">LV<\/jats:styled-content>\n              hypertrophy up to 22\u2010mm maximal wall thickness. Coronary arteries were normal.\n              <jats:styled-content style=\"fixed-case\">LV<\/jats:styled-content>\n              angiography showed transmural crypts progressing to spongeous myocardial transformation with\n              <jats:styled-content style=\"fixed-case\">LV<\/jats:styled-content>\n              dilatation and dysfunction in the oldest subject. At histology and electron microscopy detachment of myocardiocytes were associated with cell and myofibrillar disarray and degradation of intercalated discs causing disanchorage of myofilaments to cell membrane. Next\u2010generation sequencing showed in affected members an unreported p.(Ala21Val) mutation of\n              <jats:styled-content style=\"fixed-case\">ACTC<\/jats:styled-content>\n              .\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              Novel p.(Ala21Val) mutation of\n              <jats:styled-content style=\"fixed-case\">ACTC<\/jats:styled-content>\n              1 causes myofibrillar and intercalated disc alteration leading to familial hypertrophic cardiomyopathy and LV myocardial noncompaction with transmural crypts.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/jaha.117.008068","type":"journal-article","created":{"date-parts":[[2018,2,12]],"date-time":"2018-02-12T16:19:31Z","timestamp":1518452371000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":24,"title":["Novel \u03b1\u2010Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical\u2010Pathologic Correlation"],"prefix":"10.1161","volume":"7","author":[{"given":"Andrea","family":"Frustaci","sequence":"first","affiliation":[{"name":"Department of Cardiovascular, Respiratory, Nephrologic, Anesthesiologic and GeriatricSciences, Sapienza University, Rome, Italy"},{"name":"Cellular and Molecular Lab, IRCCS L. Spallanzani, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"De Luca","sequence":"additional","affiliation":[{"name":"Molecular Genetics Unit, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Guida","sequence":"additional","affiliation":[{"name":"Molecular Genetics Unit, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tommaso","family":"Biagini","sequence":"additional","affiliation":[{"name":"Bioinformatics Unit, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tommaso","family":"Mazza","sequence":"additional","affiliation":[{"name":"Bioinformatics Unit, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Gaudio","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular, Respiratory, Nephrologic, Anesthesiologic and GeriatricSciences, Sapienza University, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Letizia","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Center for Secondary Hypertension, Sapienza University, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo Antonio","family":"Russo","sequence":"additional","affiliation":[{"name":"IRCCS San Raffaele Pisana, and MEBIC Consortium, San Raffaele Rome Open University, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Galea","sequence":"additional","affiliation":[{"name":"Department of Radiological, Oncological and Pathological Sciences, La Sapienza University, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Chimenti","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular, Respiratory, Nephrologic, Anesthesiologic and GeriatricSciences, Sapienza University, Rome, Italy"},{"name":"Cellular and Molecular Lab, IRCCS L. 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