Department of Cardiology, Research Group for Genetic Cardiac Diseases and Sudden Cardiac Death, Oslo University Hospital, Rikshospitalet, PO Box 4950 Nydalen, 0424 Oslo, Norway.
Department of Cardiology, Institute for Clinical Medicine, University of Oslo, Oslo, Norway.
Eur Heart J Cardiovasc Imaging. 2022 Mar 22;23(4):543-550. doi: 10.1093/ehjci/jeab057.
We aimed to study the progression of cardiac dysfunction in patients with lamin A/C mutations and explore markers of adverse cardiac outcome.
We followed consecutive lamin A/C genotype-positive patients divided into tertiles according to age. Patients underwent repeated clinical examinations, electrocardiograms (ECGs), and echocardiograms. We followed left ventricular (LV) and right ventricular (RV) size and function, and the severity atrioventricular-valve regurgitations. Outcome was death, LVAD implant, or cardiac transplantation. We included 101 patients [age 44 (29-54) years, 39% probands, 50% female]. We analysed 576 echocardiograms and 258 ECGs during a follow-up of 4.9 (interquartile range 2.5-8.2) years. The PR-interval increased at young age from 204 ± 73 to 212 ± 69 ms (P < 0.001), LV ejection fraction (LVEF) declined from middle age from 50 ± 12% to 47 ± 13% (P < 0.001), while LV volumes remained unchanged. RV function and tricuspid regurgitation worsened from middle age with accelerating rates. Progression of RV dysfunction [odds ratio (OR) 1.3, 95% confidence interval (CI) (1.03-1.65), P = 0.03] and tricuspid regurgitation [OR 4.9, 95% CI (1.64-14.9), P = 0.004] were associated with outcome when adjusted for age, sex, comorbidities, LVEF, and New York Heart Association functional class.
In patients with lamin A/C genotype, electrical disease started at young age. From middle age, LV function deteriorated progressively, while LV size remained unchanged. Worsening of RV function and tricuspid regurgitation accelerated in older age and were associated with outcome. Our systematic map on cardiac deterioration may help optimal monitoring and prognostication in lamin A/C disease.
我们旨在研究 lamin A/C 突变患者心功能障碍的进展，并探讨不良心脏结局的标志物。
我们连续随访了 lamin A/C 基因型阳性患者，并根据年龄分为三组。患者接受了重复的临床检查、心电图（ECG）和超声心动图检查。我们随访了左心室（LV）和右心室（RV）的大小和功能，以及房室瓣反流的严重程度。结局为死亡、LVAD 植入或心脏移植。我们纳入了 101 例患者[年龄 44（29-54）岁，39%为先证者，50%为女性]。在 4.9（四分位间距 2.5-8.2）年的随访期间，我们分析了 576 次超声心动图和 258 次心电图。在年轻时，PR 间期从 204±73 毫秒增加到 212±69 毫秒（P<0.001），从中年开始，LV 射血分数（LVEF）从 50±12%下降到 47±13%（P<0.001），而 LV 容积保持不变。从中年开始，RV 功能和三尖瓣反流恶化，恶化速度加快。RV 功能障碍进展[比值比（OR）1.3，95%置信区间（CI）（1.03-1.65），P=0.03]和三尖瓣反流[OR 4.9，95%CI（1.64-14.9），P=0.004]与调整年龄、性别、合并症、LVEF 和纽约心脏协会功能分级后的结局相关。
在 lamin A/C 基因型患者中，电疾病始于年轻时。从中年开始，LV 功能逐渐恶化，而 LV 大小保持不变。老年时 RV 功能和三尖瓣反流恶化加速，并与结局相关。我们的心脏恶化系统图谱可能有助于 lamin A/C 疾病的最佳监测和预后。
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