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Case Reports
. 2022 Aug;45(8):1569-1575.
doi: 10.1007/s40618-022-01795-6. Epub 2022 Apr 6.

Post-acute cardiac complications following SARS-CoV-2 infection in partial lipodystrophy due to LMNA gene p.R349W mutation

G Ceccarini  1 , D Gilio  2 , S Magno  2 , C Pelosini  3 , M Leverone  4 , C Miceli  5 , A Barison  6   7 , I Fabiani  6 , M Emdin  6   7 , F Santini  2
Affiliations
Case Reports

Post-acute cardiac complications following SARS-CoV-2 infection in partial lipodystrophy due to LMNA gene p.R349W mutation

G Ceccarini et al. J Endocrinol Invest. 2022 Aug.

Abstract

Purpose: SARS-CoV-2 infection may cause varying degrees of cardiac injury and the presence of underlying cardiovascular morbidities contributes to the frequency and severity of occurrence of this complication. Lipodystrophy syndromes are frequently characterized by severe metabolic derangements that represent relevant cardiovascular risk factors. Besides causing lipodystrophy, mutations in the lamin A/C (LMNA) gene can lead to a wide spectrum of tissue-specific disorders including cardiac involvement.

Methods and results: We herein examine the case of two patients affected by atypical progeroid syndrome and partial lipodystrophy due to a heterozygous missense LMNA mutation c.1045 C > T (p.R349W) who presented initially with mild COVID-19 and developed severe cardiovascular complications within few weeks of SARS-CoV-2 infection. Before being infected with SARS-CoV-2, our patients had cardiovascular morbidities (mild mitral regurgitation in one patient, ischemic heart disease with bifascicular block in the other patient) in adjunct to cardiovascular risk factors, but the SARS-CoV-2 infection contributed to quickly and significantly decompensate their balance.

Conclusion: These findings warn that patients affected by LMNA p.R349W mutation and likely other LMNA mutations associated with cardiovascular morbidity should be considered at extremely elevated risk of post-acute cardiological manifestations and should therefore undergo a vigilant follow-up after SARS-CoV-2 infection. Both patients developed COVID-19 before the specific vaccination was available to them and this unfortunate situation should remark the importance of vaccination coverage against SARS-CoV-2 infection for all patients affected by lipodystrophy, especially those with underlying comorbidities.

Keywords: Atypical progeroid syndrome; COVID-19; LMNA mutation; Lipodystrophy; Post-acute cardiac complications; SARS-CoV-2.

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Conflict of interest statement

G.C. has received fees for consulting and/or received travel funds from the following companies, which are involved with lipodystrophy: Aegerion/Amryt Pharmaceuticals. S.M. received travel funds from the following company, which is involved with lipodystrophy: Amryt Pharmaceuticals. C.P. received travel funds from the following company, which is involved with lipodystrophy: Amryt Pharmaceuticals. F.S. has worked as a consultant, participated in studies, and/or received travel funds from the following companies, which are involved with lipodystrophy and/or diabetes: AstraZeneca, Aegerion/Amryt, Novo Nordisk.

Figures

Fig. 1
Fig. 1
Timeline of key clinical events and drug treatments before and after SARS-CoV-2 infection in the two patients affected by atypical progeroid syndrome and partial lipodystrophy due to a heterozygous missense lamin A/C gene (LMNA) mutation c.1045 C > T (p.R349W)
See this image and copyright information in PMC

References

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