Monda, Emanuele;
Bakalakos, Athanasios;
Syrris, Petros;
Mohiddin, Saidi;
Ferdinandusse, Sacha;
Murphy, Elaine;
Elliott, Perry Mark;
(2023)
Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review.
European Journal of Medical Genetics
, Article 104885. 10.1016/j.ejmg.2023.104885.
(In press).
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Abstract
Background: Malonyl-CoA decarboxylase deficiency (MLYCDD) is an ultra-rare inherited metabolic disorder, characterized by multi-organ involvement manifesting during the first few months of life. Our aim was to describe the clinical, biochemical, and genetic characteristics of patients with later-onset malonyl-CoA decarboxylase deficiency.// Methods: Clinical and biochemical characteristics of two patients aged 48 and 29 years with a confirmed molecular diagnosis of MLYCDD were examined. A systematic review of published studies describing the characteristics of cardiovascular involvement of patients with MLYCDD was performed.// Results: Two patients diagnosed with MLYCDD during adulthood were identified. The first presented with hypertrophic cardiomyopathy and ventricular pre-excitation and the second with dilated cardiomyopathy (DCM) and mild-to-moderate left ventricular (LV) systolic dysfunction. No other clinical manifestation typical of MLYCDD was observed. Both patients showed slight increase in malonylcarnitine in their plasma acylcarnitine profile, and a reduction in malonyl-CoA decarboxylase activity. During follow-up, no deterioration of LV systolic function was observed.// The systematic review identified 33 individuals with a genetic diagnosis of MLYCDD (median age 6 months [IQR 1–12], 22 males [67%]). Cardiovascular involvement was observed in 64% of cases, with DCM the most common phenotype. A modified diet combined with levocarnitine supplementation resulted in the improvement of LV systolic function in most cases. After a median follow-up of 8 months, 3 patients died (two heart failure-related and one arrhythmic death).// Conclusions: For the first time this study describes a later-onset phenotype of MLYCDD patients, characterized by single-organ involvement, mildly reduced enzyme activity, and a benign clinical course.
| Type: | Article |
|---|---|
| Title: | Cardiovascular involvement in later-onset malonyl-CoA decarboxylase deficiency: Case studies and literature review |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.ejmg.2023.104885 |
| Publisher version: | https://doi.org/10.1016/j.ejmg.2023.104885 |
| Language: | English |
| Additional information: | This version is the author-accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Malonyl-CoA decarboxylase deficiency, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prognosis |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10181703 |
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