Subtle echocardiogram findings requiring further investigation: restrictive cardiomyopathy in a rare genetic condition.

Autor:	Kreinbrook JA; School of Medicine, Duke University School of Medicine, Durham, North Carolina, USA judah.kreinbrook@duke.edu., Izzo L; School of Medicine, Duke University School of Medicine, Durham, North Carolina, USA., Atkins C; School of Medicine, Duke University School of Medicine, Durham, North Carolina, USA., Das S; School of Medicine, Duke University School of Medicine, Durham, North Carolina, USA.
Jazyk:	angličtina
Zdroj:	BMJ case reports [BMJ Case Rep] 2024 Oct 23; Vol. 17 (10). Date of Electronic Publication: 2024 Oct 23.
DOI:	10.1136/bcr-2024-261443
Abstrakt:	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. Competing Interests: Competing interests: None declared. (© BMJ Publishing Group Limited 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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