Division of Cardiology and ICCU.
Department of Imaging, Azienda Ospedaliera G. Brotzu, Cagliari, Italy.
J Cardiovasc Med (Hagerstown). 2021 Jan;22(1):53-58. doi: 10.2459/JCM.0000000000001060.
We aim to describe one of the longest longitudinal follow-ups reported so far (>22 years), concerning a whole family affected by a missense lamin A/C mutation (Arg60Gly), which manifested as an overlapping phenotype with cardiac and extracardiac involvement over time.
Starting from the family history, two generations of that family were prospectively observed, from 1997 until 2020. At baseline, four individuals with dilated cardiomyopathy and cardiac conduction defects showed the same mutation. This was also found in three young individuals, phenotypically unaffected at baseline assessment.
The prolonged clinical and laboratory evaluation has shown the evolution of an overlapping phenotype in which cardiac alterations have been associated with lipodystrophy and neurological manifestations. In the first observed generation, the prognosis was negatively affected by the progression of heart failure and lipodystrophy, whereas in the second generation the first phenotypic manifestations became evident after the 2nd decade. Cardiac magnetic resonance played a relevant role in the early detection of cardiac alteration. Right bundle branch block was another sign of initial phenotypical expression.
In lamin A/C gene mutation carriers, a strict, multidisciplinary follow-up allows the opportunity to monitor the progress of the disease and to intervene precociously with the best available treatments.
我们旨在描述迄今为止报道的最长纵向随访之一（>22 年），该研究涉及一个受错义 lamin A/C 突变（Arg60Gly）影响的整个家族，该突变随时间表现为具有心脏和心脏外表现的重叠表型。
从家族史开始，对该家族的两代人进行前瞻性观察，从 1997 年到 2020 年。在基线时，四名患有扩张型心肌病和心脏传导缺陷的个体表现出相同的突变。在基线评估时表型不受影响的三名年轻个体中也发现了这种突变。
长期的临床和实验室评估显示出重叠表型的演变，其中心脏改变与脂肪营养不良和神经表现相关。在第一代观察到的患者中，心力衰竭和脂肪营养不良的进展对预后产生了负面影响，而在第二代中，第一个表型表现出现在第二个十年后。心脏磁共振在早期检测心脏改变方面发挥了重要作用。右束支传导阻滞是初始表型表达的另一个迹象。
在 lamin A/C 基因突变携带者中，严格的多学科随访为监测疾病进展和早期使用最佳治疗方法提供了机会。
