Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital, Pisa, Italy.
Chemistry and Endocrinology Laboratory, University Hospital, Pisa, Italy.
J Endocrinol Invest. 2022 Aug;45(8):1569-1575. doi: 10.1007/s40618-022-01795-6. Epub 2022 Apr 6.
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.
SARS-CoV-2 感染可能导致不同程度的心脏损伤，而潜在的心血管疾病会增加这种并发症发生的频率和严重程度。脂肪代谢障碍综合征通常以严重的代谢紊乱为特征，这些紊乱是相关的心血管危险因素。除了导致脂肪代谢障碍外，核纤层蛋白 A/C（LMNA）基因突变还可导致广泛的组织特异性疾病，包括心脏受累。
我们在此检查了两名患者的病例，他们患有非典型早老症和部分脂肪代谢障碍，这是由于杂合错义 LMNA 基因突变 c.1045 C>T（p.R349W）引起的，最初表现为轻度 COVID-19，在感染 SARS-CoV-2 后数周内发展为严重心血管并发症。在感染 SARS-CoV-2 之前，我们的患者除了心血管危险因素外，还存在心血管疾病（一名患者有轻度二尖瓣反流，另一名患者有缺血性心脏病伴双束支阻滞），但 SARS-CoV-2 感染导致他们的病情迅速且显著恶化。
这些发现警告称，患有 LMNA p.R349W 突变和可能其他与心血管疾病相关的 LMNA 突变的患者应被视为极高风险的急性后心血管表现，并因此应在 SARS-CoV-2 感染后进行警惕性随访。这两名患者在他们能够接种特定疫苗之前感染了 COVID-19，这种不幸的情况应强调所有脂肪代谢障碍患者，特别是那些有潜在合并症的患者接种 SARS-CoV-2 感染疫苗的重要性。
