Post-acute cardiac complications following SARS-CoV-2 infection in partial lipodystrophy due to LMNA gene p.R349W mutation.
Atypical progeroid syndrome
COVID-19
LMNA mutation
Lipodystrophy
Post-acute cardiac complications
SARS-CoV-2
Journal
Journal of endocrinological investigation
ISSN: 1720-8386
Titre abrégé: J Endocrinol Invest
Pays: Italy
ID NLM: 7806594
Informations de publication
Date de publication:
Aug 2022
Aug 2022
Historique:
received:
12
03
2022
accepted:
23
03
2022
pubmed:
7
4
2022
medline:
14
7
2022
entrez:
6
4
2022
Statut:
ppublish
Résumé
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. 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. 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.
Identifiants
pubmed: 35384599
doi: 10.1007/s40618-022-01795-6
pii: 10.1007/s40618-022-01795-6
pmc: PMC8984660
doi:
Substances chimiques
LMNA protein, human
0
Lamin Type A
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1569-1575Subventions
Organisme : Ministero dell'Istruzione, dell'Università e della Ricerca
ID : 2020NCKXBR
Informations de copyright
© 2022. The Author(s).
Références
Barison A et al (2020) Cardiovascular disease and COVID-19: les liaisons dangereuses. Eur J Prev Cardiol 27(10):1017–1025. https://doi.org/10.1177/2047487320924501
doi: 10.1177/2047487320924501
pubmed: 32391719
pmcid: 7218353
Fried JA et al (2020) The variety of cardiovascular presentations of COVID-19. Circulation 141(23):1930–1936. https://doi.org/10.1161/CIRCULATIONAHA.120.047164
doi: 10.1161/CIRCULATIONAHA.120.047164
pubmed: 32243205
pmcid: 7314498
Hussain I et al (2020) Multisystem progeroid syndrome with lipodystrophy, cardiomyopathy, and nephropathy due to an LMNA p. R349W variant. J Endocr Soc 4(10):104. https://doi.org/10.1210/jendso/bvaa104
doi: 10.1210/jendso/bvaa104
Magno S et al (2020) Atypical Progeroid Syndrome and partial lipodystrophy due to LMNA gene p. R349W mutation. J Endocr Soc 4(10):bvaa108. https://doi.org/10.1210/jendso/bvaa108
doi: 10.1210/jendso/bvaa108
pubmed: 32913962
pmcid: 7474543
Ozata M, Ozdemir IC, Licinio J (1999) Human leptin deficiency caused by a missense mutation: multiple endocrine defects, decreased sympathetic tone, and immune system dysfunction indicate new targets for leptin action, greater central than peripheral resistance to the effects of leptin, and spontaneous correction of leptin-mediated defects. J Clini Endocrinol Metab. 84(10):3686–3695
doi: 10.1210/jcem.84.10.5999
Poma AM et al (2022) COVID-19 autopsy cases: detection of virus in endocrine tissues. J Endocrinol Invest 45(1):209–214. https://doi.org/10.1007/s40618-021-01628-y
doi: 10.1007/s40618-021-01628-y
pubmed: 34191258
Emami A et al (2020) Prevalence of underlying diseases in hospitalized patients with COVID-19: a systematic review and meta-analysis. Arch Acad Emerg Med 8(1):e35
pubmed: 32232218
pmcid: 7096724
Luo W et al (2020) Clinical pathology of critical patient with novel coronavirus pneumonia (COVID-19). https://www.preprints.org/manuscript/202002.0407/v3 . Accessed 5 Apr 2022
Feng Y et al (2020) COVID-19 with different severities: a multicenter study of clinical features. Am J Respir Crit Care Med 201(11):1380–1388. https://doi.org/10.1164/rccm.202002-0445OC
doi: 10.1164/rccm.202002-0445OC
pubmed: 32275452
pmcid: 7258639
Li B et al (2020) Prevalence and impact of cardiovascular metabolic diseases on COVID-19 in China. Clin Res Cardiol 109(5):531–538. https://doi.org/10.1007/s00392-020-01626-9
doi: 10.1007/s00392-020-01626-9
pubmed: 32161990
pmcid: 7087935
Ciardullo S et al (2021) Impact of diabetes on COVID-19-related in-hospital mortality: a retrospective study from Northern Italy. J Endocrinol Invest 44(4):843–850. https://doi.org/10.1007/s40618-020-01382-7
doi: 10.1007/s40618-020-01382-7
pubmed: 32776197
Zhou F et al (2020) Clinical course and risk factors for mortality of adult inpatients with COVID-19 in Wuhan, China: a retrospective cohort study. Lancet 395(10229):1054–1062. https://doi.org/10.1016/S0140-6736(20)30566-3
doi: 10.1016/S0140-6736(20)30566-3
pubmed: 32171076
pmcid: 7270627
Hussain I, Garg A (2016) Lipodystrophy syndromes. Endocrinol Metab Clin 45(4):783–797. https://doi.org/10.1016/j.ecl.2016.06.012
doi: 10.1016/j.ecl.2016.06.012
Araújo-Vilar D, Santini F (2019) Diagnosis and treatment of lipodystrophy: a step-by-step approach. J Endocrinol Invest 42(1):61–73. https://doi.org/10.1007/s40618-018-0887-z
doi: 10.1007/s40618-018-0887-z
pubmed: 29704234
Hussain I, Patni N, Garg A (2019) Lipodystrophies, dyslipidaemias and atherosclerotic cardiovascular disease. Pathology 51(2):202–212. https://doi.org/10.1016/j.pathol.2018.11.004
doi: 10.1016/j.pathol.2018.11.004
pubmed: 30595509
Oral EA et al (2006) Leptin replacement therapy modulates circulating lymphocyte subsets and cytokine responsiveness in severe lipodystrophy. J Clin Endocrinol Metab 91(2):621–628. https://doi.org/10.1210/jc.2005-1220
doi: 10.1210/jc.2005-1220
pubmed: 16317060
Berger S et al (2017) Lipodystrophy and obesity are associated with decreased number of T cells with regulatory function and pro-inflammatory macrophage phenotype. Int J Obes 41(11):1676–1684. https://doi.org/10.1038/ijo.2017.163
doi: 10.1038/ijo.2017.163
Ceccarini G et al (2009) PET imaging of leptin biodistribution and metabolism in rodents and primates. Cell Metab 10(2):148–159. https://doi.org/10.1016/j.cmet.2009.07.001
doi: 10.1016/j.cmet.2009.07.001
pubmed: 19656493
pmcid: 2867490
Madeira MP et al (2021) SARS-COV-2 infection outcomes in patients with congenital generalized lipodystrophy. Diabetol Metab Syndr 13(1):1–9. https://doi.org/10.1186/s13098-021-00680-1
doi: 10.1186/s13098-021-00680-1
Chen T et al (2020) Clinical characteristics of 113 deceased patients with coronavirus disease 2019: retrospective study. bmj. https://doi.org/10.1136/bmj.m1091
doi: 10.1136/bmj.m1091
pubmed: 33323388
pmcid: 8009089
Xiong T-Y et al (2020) Coronaviruses and the cardiovascular system: acute and long-term implications. Eur Heart J. https://doi.org/10.1093/eurheartj/ehaa231
doi: 10.1093/eurheartj/ehaa231
pubmed: 32186331
Piticchio T et al (2021) Relationship between betacoronaviruses and the endocrine system: a new key to understand the COVID-19 pandemic—a comprehensive review. J Endocrinol Invest 44(8):1553–1570. https://doi.org/10.1007/s40618-020-01486-0
doi: 10.1007/s40618-020-01486-0
pubmed: 33583003
pmcid: 7882054
Pal R, Banerjee M (2020) COVID-19 and the endocrine system: exploring the unexplored. J Endocrinol Invest 43(7):1027–1031. https://doi.org/10.1007/s40618-020-01276-8
doi: 10.1007/s40618-020-01276-8
pubmed: 32361826
pmcid: 7195612
Akhmerov A, Marbán E (2020) COVID-19 and the heart. Circ Res 126(10):1443–1455. https://doi.org/10.1161/CIRCRESAHA.120.317055
doi: 10.1161/CIRCRESAHA.120.317055
pubmed: 32252591
Al-Aly Z, Xie Y, Bowe B (2021) High-dimensional characterization of post-acute sequelae of COVID-19. Nature 594(7862):259–264. https://doi.org/10.1038/s41586-021-03553-9
doi: 10.1038/s41586-021-03553-9
pubmed: 33887749
Xie Y, Xu E, Bowe B, Al-Aly Z (2022) Long-term cardiovascular outcomes of COVID-19. Nat Med. https://doi.org/10.1038/s41591-022-01689-3
doi: 10.1038/s41591-022-01689-3
pubmed: 35614233
pmcid: 8938267
Zhou M et al (2021) Cardiovascular sequalae in uncomplicated COVID-19 survivors. Plos One 16(2):e0246732. https://doi.org/10.1371/journal.pone.0246732
doi: 10.1371/journal.pone.0246732
pubmed: 33571321
pmcid: 7877588
Tam C-CF et al (2020) Impact of coronavirus disease 2019 (COVID-19) outbreak on ST-segment–elevation myocardial infarction care in Hong Kong, China. Circulation 13(4):e006631. https://doi.org/10.1161/CIRCOUTCOMES.120.006631
doi: 10.1161/CIRCOUTCOMES.120.006631
pubmed: 32182131
British Society for Immunology (2020) Long-term immunological health consequences of COVID-19. https://www.immunology.org/sites/default/files/BSI_Briefing_Note_August_2020_FINAL.pdf . Accessed 5 Apr 2022
Gatto MC et al (2021) Bradyarrhythmias in patients with SARS-CoV-2 infection: a narrative review and a clinical report. Pacing Clin Electrophysiol 44(9):1607–1615. https://doi.org/10.1111/pace.14308
doi: 10.1111/pace.14308
pubmed: 34219243
pmcid: 8447352
Dani M et al (2021) Autonomic dysfunction in ‘long COVID’: rationale, physiology and management strategies. Clin Med 21(1):e63. https://doi.org/10.7861/clinmed.2020-0896
doi: 10.7861/clinmed.2020-0896
Goldstein DS (2020) The extended autonomic system, dyshomeostasis, and COVID-19. Clin Auton Res. https://doi.org/10.1007/s10286-020-00714-0
doi: 10.1007/s10286-020-00714-0
pubmed: 32700055
pmcid: 7374073
Mory PB et al (2012) Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. Eur J Endocrinol 167(3):423. https://doi.org/10.1530/EJE-12-0268
doi: 10.1530/EJE-12-0268
pubmed: 22700598
Hussain I et al (2018) A novel generalized lipodystrophy-associated progeroid syndrome due to recurrent heterozygous LMNA p. T10I mutation. J Clin Endocrinol Metab 103(3):1005–1014. https://doi.org/10.1210/jc.2017-02078
doi: 10.1210/jc.2017-02078
pubmed: 29267953
von Schnurbein J et al (2020) European lipodystrophy registry: background and structure. Orphanet J Rare Dis 15(1):1–11. https://doi.org/10.1186/s13023-020-1295-y
doi: 10.1186/s13023-020-1295-y