{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T06:46:45Z","timestamp":1764226005967,"version":"3.41.2"},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2025,2,26]],"date-time":"2025-02-26T00:00:00Z","timestamp":1740528000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Phenotyping and genotyping of cardiomyopathies are becoming increasingly important. We describe a rare form of syndromic dilated cardiomyopathy, years after the initial diagnosis of intellectual disability and hypergonadotropic hypogonadism, known as Najjar\u2013Malouf syndrome or cardiogenital syndrome.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A 45-year-old woman was referred for inpatient treatment because of progressive dyspnoea, chest tightness, and ankle oedema. She had a diagnosis of undefined psychomotor development delay and hypergonadotropic hypogonadism, for which she has been receiving hormone substitution treatment since she was 19 years old. The physical examination revealed signs of congestion as well as a right convex thoracic scoliosis and hyperkyphosis. Cardiac biomarkers were elevated, and echocardiography showed severe dilated cardiomyopathy with impaired systolic function, severe pulmonary hypertension, and secondary mitral regurgitation. Cardiac magnetic resonance imaging showed a severely dilated left ventricle with severely reduced left ventricular ejection fraction (20%), thinned myocardium, and late-gadolinium enhancement predominantly in the septum. Genetic screening for dilatative cardiomyopathy-associated genes revealed no mutations, in particular, no mutation of the lamin A\/C (LMNA) gene. The patient progressed to heart failure with severely reduced ejection fraction 26 years after diagnosis of psychomotor development delay and hypergonadotropic hypogonadism.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>The triad of intellectual disability, hypergonadotropic hypogonadism, and cardiomyopathy enabled the diagnosis of Najjar\u2013Malouf syndrome, also known as cardiogenital syndrome. This case underscores the diagnostic and therapeutic challenges of Najjar\u2013Malouf syndrome, emphasizing the significance of thorough evaluation and genetic testing, particularly considering the association with LMNA mutations. Further research is needed to improve understanding and management strategies for this rare syndrome.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytaf110","type":"journal-article","created":{"date-parts":[[2025,3,4]],"date-time":"2025-03-04T20:51:17Z","timestamp":1741121477000},"source":"Crossref","is-referenced-by-count":1,"title":["A case report of non-lamin A\/C dilated cardiomyopathy presenting in a patient with Najjar\u2013Malouf syndrome"],"prefix":"10.1093","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3842-180X","authenticated-orcid":false,"given":"Gian","family":"Flury","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Ospidal, Center da Sand\u00e0 Engiadina bassa , Via da\u2019l Ospidal, Scuol CH-7550 ,","place":["Switzerland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-7306-731X","authenticated-orcid":false,"given":"Flurina","family":"Arquint","sequence":"additional","affiliation":[{"name":"Clinic of Cardiology, Department of Internal Medicine, Kantonsspital Graub\u00fcnden , Loestrasse 170, Chur CH-7000 ,","place":["Switzerland"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,2,26]]},"reference":[{"key":"2025041510360705300_ytaf110-B1","first-page":"115","article-title":"Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome","volume":"1","year":"2009","journal-title":"Orphanet J Rare Dis"},{"key":"2025041510360705300_ytaf110-B2","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/S0022-3476(73)80495-0","article-title":"Genital anomaly, mental retardation, and cardiomyopathy: a new syndrome?","volume":"83","author":"Najjar","year":"1973","journal-title":"J Pediatr"},{"key":"2025041510360705300_ytaf110-B3","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1111\/j.1399-0004.1984.tb01073.x","article-title":"Genital anomaly and cardiomyopathy: a new syndrome","volume":"26","author":"Najjar","year":"1984","journal-title":"Clin Genet"},{"key":"2025041510360705300_ytaf110-B4","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1002\/ajmg.1320200309","article-title":"Hypergonadotropic hypogonadism with congestive cardiomyopathy: an autosomal-recessive disorder?","volume":"20","author":"Malouf","year":"1985","journal-title":"Am J Med Genet"},{"key":"2025041510360705300_ytaf110-B5","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1002\/ajmg.1320440320","article-title":"Case of ovarian dysgenesis and dilated cardiomyopathy supports existence of Malouf syndrome","volume":"44","author":"Narahara","year":"1992","journal-title":"Am J Med Genet"},{"key":"2025041510360705300_ytaf110-B6","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1002\/ajmg.a.32627","article-title":"Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation","volume":"149A","author":"McPherson","year":"2009","journal-title":"Am J Med Genet"},{"key":"2025041510360705300_ytaf110-B7","first-page":"144","article-title":"Case report of Malouf syndrome not associated with LMNA gene mutation","volume":"4","author":"Vaikhanskaya","year":"2016","journal-title":"MOJ Clin Med Case Rep"},{"key":"2025041510360705300_ytaf110-B8","doi-asserted-by":"crossref","first-page":"761","DOI":"10.3389\/fphys.2020.00761","article-title":"The broad spectrum of LMNA cardiac diseases: from molecular mechanisms to clinical phenotype","volume":"11","author":"Crasto","year":"2020","journal-title":"Front Physiol"},{"key":"2025041510360705300_ytaf110-B9","doi-asserted-by":"crossref","first-page":"3503","DOI":"10.1093\/eurheartj\/ehad194","article-title":"2023 ESC Guidelines for the management of cardiomyopathies","volume":"44","author":"Arbelo","year":"2023","journal-title":"Eur Heart J"}],"container-title":["European Heart Journal - 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