{"id":7025,"date":"2022-07-19T09:34:21","date_gmt":"2022-07-19T08:34:21","guid":{"rendered":"https:\/\/www.library.sath.nhs.uk\/research\/?p=7025"},"modified":"2022-07-19T09:34:21","modified_gmt":"2022-07-19T08:34:21","slug":"holt-oram-syndrome-an-incidental-diagnosis-2022","status":"publish","type":"post","link":"https:\/\/www.library.sath.nhs.uk\/research\/2022\/07\/19\/holt-oram-syndrome-an-incidental-diagnosis-2022\/","title":{"rendered":"Holt-Oram Syndrome: An Incidental Diagnosis (2022)"},"content":{"rendered":"<p><strong>Type of publication:<\/strong><br aria-hidden=\"true\" \/>Journal article<\/p>\n<p><strong>Author(s):<\/strong><br aria-hidden=\"true\" \/>*Gupta M; *Dosu A; *Makan J<\/p>\n<p><strong>Citation:<\/strong><br aria-hidden=\"true\" \/>Cureus, 2022 May 11; Vol. 14 (5), pp. e24899<\/p>\n<p><strong>Abstract:<\/strong><br aria-hidden=\"true\" \/>Holt-Oram syndrome is a rare autosomal dominant disorder which occurs because of mutations in the TBX5 genes. Most notable manifestations include musculoskeletal deformities, predominantly affecting the upper limbs, and congenital heart defects. Presentation could be multifaceted leading to delay in diagnosis. We describe an interesting incidental diagnosis of Holt-Oram syndrome in a young female adult who accompanied her son to the clinic. He had undergone closure of both atrial septal defect (ASD) and patent ductus arteriosus (PDA) in his infancy. She reported progressive exertional dyspnoea, reduced exercise tolerance, and palpitations; incidentally, she was noted to have right upper limb deformities. These findings prompted further evaluation and thereafter, resulted in a diagnosis of Holt-Oram syndrome.<\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC9185177\/\" target=\"_blank\" rel=\"noopener noreferrer\" data-auth=\"NotApplicable\" data-linkindex=\"0\">Link to full-text<\/a> [open access - no password required]<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Type of publication:Journal article Author(s):*Gupta M; *Dosu A; *Makan J Citation:Cureus, 2022 May 11; Vol. 14 (5), pp. e24899 Abstract:Holt-Oram syndrome is a rare autosomal dominant disorder which occurs because of mutations in the TBX5 genes. Most notable manifestations include<span class=\"ellipsis\">&hellip;<\/span><\/p>\n<div class=\"read-more\"><a href=\"https:\/\/www.library.sath.nhs.uk\/research\/2022\/07\/19\/holt-oram-syndrome-an-incidental-diagnosis-2022\/\">Read more <span class=\"screen-reader-text\">Holt-Oram Syndrome: An Incidental Diagnosis (2022)<\/span><span class=\"meta-nav\"> &#8250;<\/span><\/a><\/div>\n<p><!-- end of .read-more --><\/p>\n","protected":false},"author":12,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"content-type":"","footnotes":""},"categories":[1001,200],"tags":[1017,997,1002],"class_list":["post-7025","post","type-post","status-publish","format-standard","hentry","category-open-access","category-staff-publication","tag-1017","tag-cardiovascular-care","tag-gold-open-access"],"_links":{"self":[{"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/posts\/7025","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/users\/12"}],"replies":[{"embeddable":true,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/comments?post=7025"}],"version-history":[{"count":1,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/posts\/7025\/revisions"}],"predecessor-version":[{"id":7026,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/posts\/7025\/revisions\/7026"}],"wp:attachment":[{"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/media?parent=7025"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/categories?post=7025"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.library.sath.nhs.uk\/research\/wp-json\/wp\/v2\/tags?post=7025"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}