{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:59:54Z","timestamp":1790816394036,"version":"4.1.0"},"reference-count":85,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ: Genomic and Precision Medicine"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Variants in the\n                      <jats:italic>DMD<\/jats:italic>\n                      gene, that encodes the cytoskeletal protein, dystrophin, cause a severe form of dilated cardiomyopathy (DCM) associated with high rates of heart failure, heart transplantation, and ventricular arrhythmias. Improved early detection of individuals at risk is needed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Genetic testing of 40 male probands with a potential X-linked genetic cause of primary DCM was undertaken using multi-gene panel sequencing, multiplex polymerase chain reaction, and array comparative genomic hybridization. Variant location was assessed with respect to dystrophin isoform patterns and exon usage. Telomere length was evaluated as a marker of myocardial dysfunction in left ventricular tissue and blood.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Four pathogenic\/likely pathogenic\n                      <jats:italic>DMD<\/jats:italic>\n                      variants were found in 5 probands (5\/40: 12.5%). Only one rare variant was identified by gene panel testing with 3 additional multi-exon deletion\/duplications found following targeted assays for structural variants. All of the pathogenic\/likely pathogenic\n                      <jats:italic>DMD<\/jats:italic>\n                      variants involved dystrophin exons that had percent spliced-in scores &gt;90, indicating high levels of constitutive expression in the human adult heart. Fifteen\n                      <jats:italic>DMD<\/jats:italic>\n                      variant-negative probands (15\/40: 37.5%) had variants in autosomal genes including\n                      <jats:italic>TTN<\/jats:italic>\n                      ,\n                      <jats:italic>BAG3<\/jats:italic>\n                      ,\n                      <jats:italic>LMNA<\/jats:italic>\n                      , and\n                      <jats:italic>RBM20<\/jats:italic>\n                      . Myocardial telomere length was reduced in patients with DCM irrespective of genotype. No differences in blood telomere length were observed between genotype-positive family members with\/without DCM and controls.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      Primary genetic testing using multi-gene panels has a low yield and specific assays for structural variants are required if\n                      <jats:italic>DMD<\/jats:italic>\n                      -associated cardiomyopathy is suspected. Distinguishing X-linked causes of DCM from autosomal genes that show sex differences in clinical presentation is crucial for informed family management.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/circgen.123.004221","type":"journal-article","created":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T05:00:17Z","timestamp":1693976417000},"page":"421-430","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":23,"title":["DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies"],"prefix":"10.1161","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8979-2096","authenticated-orcid":true,"given":"Renee","family":"Johnson","sequence":"first","affiliation":[{"name":"Victor Chang Cardiac Research Institute, Darlinghurst (R.J., R.O., C. Horvat, M.O., M.S., G.G., E.R., C.S.H., A.M.K., P.S.M., E.G., D.F.)."},{"name":"School of Clinical Medicine, Faculty of Medicine &amp; Health (R.J., E.R., C.S.H., A.M.K., P.S.M., E.G., D.F.), UNSW Sydney, Kensington, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robyn","family":"Otway","sequence":"additional","affiliation":[{"name":"Victor Chang Cardiac Research Institute, Darlinghurst (R.J., R.O., C. 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