{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T12:41:26Z","timestamp":1778503286397,"version":"3.51.4"},"reference-count":16,"publisher":"BMJ","issue":"10","license":[{"start":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T00:00:00Z","timestamp":1729641600000},"content-version":"unspecified","delay-in-days":22,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,9,17]]},"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:p>Mulibrey nanism (MN) is a extremely rare genetic condition first described in 1973, with around 150 cases reported worldwide. MN is characterised by growth delay and multiorgan manifestations, the most fatal being a combination restrictive-constrictive, perimyocardial heart disease that results in diastolic heart failure. We present a male toddler with MN who presented with recurrent episodes of hypoxia, feeding intolerance, and generalised swelling (anasarca) in the setting of subtle echocardiographic findings. A multidisciplinary and systematic diagnostic approach was used to determine the underlying aetiology. Invasive cardiac testing via right heart catheterisation revealed the final diagnosis of restrictive cardiomyopathy. Transplant decision-making was limited due to hepatic involvement. This case highlights the limitations of echocardiography in diagnosing restrictive cardiomyopathy, which has a preserved ejection fraction, as well the need for multidisciplinary involvement and a family-centred approach in treating patients with this rare condition.<\/jats:p>","DOI":"10.1136\/bcr-2024-261443","type":"journal-article","created":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T23:20:21Z","timestamp":1729725621000},"page":"e261443","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Subtle echocardiogram findings requiring further investigation: restrictive cardiomyopathy in a rare genetic condition"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7137-5860","authenticated-orcid":false,"given":"Judah Andrew","family":"Kreinbrook","sequence":"first","affiliation":[{"name":"School of Medicine, Duke University School of Medicine, Durham, North Carolina, 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