{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T08:08:36Z","timestamp":1753862916229,"version":"3.41.2"},"reference-count":9,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,9,29]],"date-time":"2024-09-29T00:00:00Z","timestamp":1727568000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:sec><jats:title>Key Clinical Message<\/jats:title><jats:p>This case report highlights dilated cardiomyopathy as a cardiovascular complication in autoimmune polyendocrine syndrome type 1 (APS\u20101), emphasizing the need for early recognition and a multidisciplinary approach. Comprehensive care and regular follow\u2010up are crucial in managing these atypical presentations to optimize patient outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Abstract<\/jats:title><jats:p>APS\u20101, also known as Whitaker syndrome, is characterized by a triad of mucocutaneous candidiasis, adrenal insufficiency, and hypoparathyroidism. This rare autosomal recessive disorder results from mutations in the autoimmune regulator (AIRE) gene. Cardiovascular and pulmonary manifestations in APS\u20101 are infrequently reported in the literature. We present a case of a 28\u2010year\u2010old male who presented with shortness of breath and pedal edema. Physical examination revealed alopecia, absence of eyebrows, hyperpigmentation on joints, oral candidiasis, and nail dystrophy. Echocardiography demonstrated dilated cardiomyopathy (DCM) and pericardial effusion. Chest x\u2010ray showed left\u2010sided pleural effusion. Laboratory investigations revealed hypocalcemia, hyperphosphatemia, low parathyroid hormone (PTH), low cortisol, and high adrenocorticotropic hormone (ACTH) levels. The combination of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency confirmed the diagnosis of APS\u20101. To the best of our knowledge, this is the first Pakistani and second worldwide reported case of APS\u20101 presenting with such a combination of manifestations. Early recognition and multidisciplinary management are crucial for improving outcomes in these patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ccr3.9467","type":"journal-article","created":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T03:58:31Z","timestamp":1727668711000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Whitaker syndrome: A case report of autoimmune polyendocrine syndrome type 1 with dilated cardiomyopathy"],"prefix":"10.1002","volume":"12","author":[{"given":"Ali","family":"Gohar","sequence":"first","affiliation":[{"name":"Lahore General Hospital  Lahore Punjab Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bilal","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Lahore General Hospital  Lahore Punjab Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahroz","family":"Azhar","sequence":"additional","affiliation":[{"name":"Pakistan kidney and Liver Institute and RC  Lahore Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aqsa","family":"Iqbal","sequence":"additional","affiliation":[{"name":"Lahore General Hospital  Lahore Punjab Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Usman","sequence":"additional","affiliation":[{"name":"Pakistan kidney and Liver Institute and RC  Lahore Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-5248-0749","authenticated-orcid":false,"given":"Muhammad Husnain","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Tentishev Satkynbai Memorial Asian Medical Institute  Kant Kyrgyzstan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-8599-6861","authenticated-orcid":false,"given":"Masab","family":"Ali","sequence":"additional","affiliation":[{"name":"Punjab Medical College  Faisalabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Daim","family":"Jawaid","sequence":"additional","affiliation":[{"name":"Rashid Latif medical college  Lahore Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,9,29]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1713301"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2611"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12026-021-09180-w"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000526221"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.02570"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.28741"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2012-0201"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2796.2009.02090.x"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-1821"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.9467","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,24]],"date-time":"2024-10-24T05:11:57Z","timestamp":1729746717000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.9467"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,29]]},"references-count":9,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,10]]}},"alternative-id":["10.1002\/ccr3.9467"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.9467","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"type":"print","value":"2050-0904"},{"type":"electronic","value":"2050-0904"}],"subject":[],"published":{"date-parts":[[2024,9,29]]},"assertion":[{"value":"2024-08-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-29","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e9467"}}