Belcher Adam M, Annie Frank H, Rinehart Sarah, Elashery Ahmad, Amer Muhammad
CAMC Institute for Academic Medicine, Charleston Area Medical Center, 3044 Chesterfield Ave, Charleston, WV 25304, USA.
CAMC Department of Cardiology, Charleston Area Medical Center, 3200 MacCorkle Ave SE, Charleston, WV 25304, USA.
Eur Heart J Case Rep. 2024 Aug 14;8(9):ytae423. doi: 10.1093/ehjcr/ytae423. eCollection 2024 Sep.
Familial dilated cardiomyopathy prognosis and disease progression vary greatly depending upon the type of genetic mutation. Family history and genetic testing are paramount in developing the best treatment plan for a patient. However, with rare or novel mutations, the significance may be unknown. Regarding this, the following case report highlights the importance of vigilance and suspicion when treating a patient with a variant of unknown significance. Additionally, it shows the importance of thoroughly investigating the family history of cardiovascular disease.
A 25-year-old Caucasian male was found to have a right bundle branch block and dilated cardiomyopathy upon presentation to the emergency department. Later testing showed that the dilated cardiomyopathy was due to an incredibly rare lamin A/C (LMNA) gene mutation, R349L. Despite treatment with a maximum-tolerable medication regimen and an automatic implantable cardioverter-defibrillator, the patient continued to decline and required a heart transplant.
This case provides more information on the severity of this specific mutation that has only been documented once before. Of note, the time from the initial emergency department visit to the heart transplant was approximately 2 years. Given the patient's young age and rapid disease progression, in addition to a strong family history of sudden cardiac death, the significance of this mutation should not be understated. The additional knowledge gained from this case report can be used to aid in timely interventions and prognosis evaluation.
家族性扩张型心肌病的预后和疾病进展因基因突变类型的不同而有很大差异。家族史和基因检测对于为患者制定最佳治疗方案至关重要。然而，对于罕见或新出现的突变，其意义可能尚不明确。关于这一点，以下病例报告强调了在治疗意义不明的变异患者时保持警惕和怀疑的重要性。此外，它还展示了全面调查心血管疾病家族史的重要性。
一名25岁的白人男性在急诊就诊时被发现有右束支传导阻滞和扩张型心肌病。后来的检测显示，扩张型心肌病是由一种极其罕见的核纤层蛋白A/C（LMNA）基因突变R349L所致。尽管采用了最大耐受药物治疗方案并植入了自动植入式心脏复律除颤器，但患者病情仍持续恶化，需要进行心脏移植。
本病例提供了关于这种仅在之前有过一次记录的特定突变严重程度的更多信息。值得注意的是，从最初急诊就诊到进行心脏移植的时间约为2年。鉴于患者年轻且疾病进展迅速，再加上有强烈的心脏性猝死家族史，这种突变的意义不容小觑。从本病例报告中获得的更多知识可用于辅助及时干预和预后评估。
