{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T11:11:21Z","timestamp":1788261081022,"version":"build-2803163510"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,12,14]],"date-time":"2018-12-14T00:00:00Z","timestamp":1544745600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To determine the prevalence of discordant cardiopulmonary function among patients with Duchenne muscular dystrophy (DMD) in our clinic.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retrospective chart review from 1999 to 2017. Inclusion criteria: DMD patients age\u2009\u2265\u200918 years, alive, with discordant cardiopulmonary function. No patients received glucocorticoid therapy. Discordant cardiopulmonary function was defined as either: good heart function (EF\u2009\u2265\u200940%) and bad lung function (FVC\u2009&lt;\u20091\u2009L) (Group A); or, bad heart function (EF\u2009&lt;\u200940%) and good lung function (FVC\u2009\u2265\u20091\u2009L) (Group B).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 74 eligible patients, 25 patients (34%) had discordant cardiopulmonary function (21 patients in Group A and 4 patients in Group B). Three dystrophin mutations were shared by &gt;2 patients (nine patients with deletion of exon 44; three patients with deletion of exon 51; three patients with duplication of exon 2). Among the 15 patients with a shared genotype, eight patients (53%) had discordant cardiopulmonary function (five patients in group A, three patients in group B). Twenty\u2010six patients had a deletion involving or distal to exon 45. Ten of these patients (38%) had discordant cardiopulmonary function (eight patients in Group A, two patients in Group B).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In our cohort of DMD patients, discordant cardiopulmonary function was common (present in one\u2010third of our patients), and the dystrophin genotype did not reliably predict a patient's cardiopulmonary phenotype. If confirmed by larger, multi\u2010center studies, our findings have significant implications for predicting patient prognosis, evaluating DMD therapies, and designing new DMD therapies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.24205","type":"journal-article","created":{"date-parts":[[2018,12,14]],"date-time":"2018-12-14T10:29:09Z","timestamp":1544783349000},"page":"186-193","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Cardiopulmonary phenotypic discordance is common in Duchenne muscular dystrophy"],"prefix":"10.1002","volume":"54","author":[{"given":"Justin B.","family":"Jin","sequence":"first","affiliation":[{"name":"Department of Pediatrics MetroHealth Medical Center Cleveland Ohio"},{"name":"Case Western Reserve University School of Medicine Cleveland Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C.","family":"Carter","sequence":"additional","affiliation":[{"name":"Case Western Reserve University School of Medicine Cleveland Ohio"},{"name":"Division of Pulmonary, Critical Care, and Sleep Medicine MetroHealth Medical Center Cleveland Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel W.","family":"Sheehan","sequence":"additional","affiliation":[{"name":"Oishei Children's Hospital University at Buffalo Buffalo New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6327-5616","authenticated-orcid":false,"given":"David J.","family":"Birnkrant","sequence":"additional","affiliation":[{"name":"Department of Pediatrics MetroHealth Medical Center Cleveland Ohio"},{"name":"Case Western Reserve University School of Medicine Cleveland 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