{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:45:34Z","timestamp":1787071534144,"version":"build-2736575974"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"9","license":[{"start":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T00:00:00Z","timestamp":1756684800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>\n                    A\n                    <jats:sc>BSTRACT<\/jats:sc>\n                  <\/jats:title>\n                  <jats:p>Marfan\u2019s syndrome is a rare connective tissue disorder which mainly affects cardiovascular, skeletal, and ocular systems. Common cardiovascular manifestation of Marfan\u2019s includes aortic root dilatation, aortic regurgitation, and mitral valve prolapse. However, presence of congenital heart defects like atrial septal defect (ASD) is very rare. Here, we report the case of a 22-year-old male with Marfan\u2019s syndrome who had an uncommon coexistence of ASD and severe aortic pathologies. The patient had clinical features like tall stature, long arm span, and musculoskeletal abnormalities such as pectus carinatum, pes cavus, and positive wrist and thumb sign, found characteristically in Marfan\u2019s syndrome. On cardiovascular examination, hyperdynamic apical impulse and murmurs indicating aortic regurgitation and mitral valve prolapse were revealed. Further on 2D echocardiography, severe aortic root dilatation (67 mm), moderate aortic regurgitation, left ventricular hypokinesia, and a small ASD with left to right shunt (a Qp\/Qs ratio of 1.8) were confirmed. This case spotlights the rare conjunction of ASD and severe aortic pathologies in MFS, highlighting the need of a thorough evaluation in management of a disease because early identification and interference are important in management of such a complex phenotype to prevent life-threatening complications and to further improve patient outcomes.<\/jats:p>","DOI":"10.4103\/jfmpc.jfmpc_329_25","type":"journal-article","created":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T21:01:00Z","timestamp":1759006860000},"page":"4073-4075","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Beyond the usual spectrum: Atrial septal defect in a Marfan syndrome patient with severe aortic pathologies"],"prefix":"10.4103","volume":"14","author":[{"given":"Prabhat Kumar","family":"Agrawal","sequence":"first","affiliation":[{"name":"Department of Medicine, Sarojini Naidu Medical College, Agra, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddhant","family":"Dev","sequence":"additional","affiliation":[{"name":"Department of Medicine, Sarojini Naidu Medical College, Agra, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandipta Kumar","family":"Panda","sequence":"additional","affiliation":[{"name":"Department of Medicine, Sarojini Naidu Medical College, Agra, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiv Sagar","family":"Yadav","sequence":"additional","affiliation":[{"name":"Department of Medicine, Sarojini Naidu Medical College, Agra, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aarushi","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Department of Medicine, Sarojini Naidu Medical College, Agra, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,9,29]]},"reference":[{"key":"R1-20251009","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1136\/jmg.2005.039669","article-title":"The molecular genetics of Marfan syndrome and related disorders","volume":"43","author":"Robinson","year":"2006","journal-title":"J Med Genet"},{"key":"R2-20251009","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1136\/jmg.2009.072785","article-title":"The revised ghent nosology for the Marfan syndrome","volume":"47","author":"Loeys","year":"2010","journal-title":"J Med Genet"},{"key":"R3-20251009","article-title":"FBN1-related Marfan syndrome","author":"Dietz","year":"2001","journal-title":"GeneReviews\u00ae"},{"issue":"(Suppl 1)","key":"R4-20251009","first-page":"S25","article-title":"Cardiovascular manifestations in Marfan syndrome","volume":"94","author":"Lazea","year":"2021","journal-title":"Med Pharm Rep"},{"key":"R5-20251009","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/s41572-021-00298-7","article-title":"Marfan syndrome","volume":"7","author":"Milewicz","year":"2021","journal-title":"Nat Rev Dis Primers"},{"key":"R6-20251009","doi-asserted-by":"crossref","first-page":"e150","DOI":"10.1161\/01.CIR.0000155243.70456.F4","article-title":"Treatment of aortic disease in patients with Marfan syndrome","volume":"111","author":"Milewicz","year":"2005","journal-title":"Circulation"},{"key":"R7-20251009","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1016\/j.amjcard.2010.05.038","article-title":"Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome","volume":"106","author":"Rybczynski","year":"2010","journal-title":"Am J Cardiol"},{"key":"R8-20251009","first-page":"e54141","article-title":"Frequency of cardiac valvulopathies in patients with Marfan syndrome:A systematic review and meta-analysis","volume":"16","author":"Sama","year":"2024","journal-title":"Cureus"},{"key":"R9-20251009","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1016\/j.amjcard.2004.11.042","article-title":"Evaluation of left ventricular dimensions and function in Marfan's syndrome without significant valvular regurgitation","volume":"95","author":"Meijboom","year":"2005","journal-title":"Am J Cardiol"}],"container-title":["Journal of Family Medicine and Primary Care"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/jfmpc.jfmpc_329_25","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:47:42Z","timestamp":1787068062000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/jfmpc.jfmpc_329_25"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":9,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.4103\/jfmpc.jfmpc_329_25","relation":{},"ISSN":["2249-4863","2278-7135"],"issn-type":[{"value":"2249-4863","type":"print"},{"value":"2278-7135","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9]]},"assertion":[{"value":"2025-02-26","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-12","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}