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首页> 外文期刊>Journal of cardiovascular medicine >A very long-term observation of a family with dilated cardiomyopathy and overlapping phenotype from lamin A/C mutation
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A very long-term observation of a family with dilated cardiomyopathy and overlapping phenotype from lamin A/C mutation

机译：具有扩张的心肌病和来自Lamin A / C突变的重叠表型的家庭的长期观察

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Aims 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. Methods 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. Results 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. Conclusion 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.
机译：目的我们旨在描述迄今为止报道的最长的纵向随访（>22年）之一，涉及一个受错义层粘连蛋白a/C突变（Arg60Gly）影响的整个家族，该突变表现为与心脏和心外受累的重叠表型。方法从家族史开始，从1997年到2020年，对该家族的两代进行前瞻性观察。在基线检查时，四名患有扩张型心肌病和心脏传导缺陷的患者显示出相同的突变。在三名年轻人中也发现了这一点，在基线评估时，表型未受影响。结果长期的临床和实验室评估显示了重叠表型的演变，其中心脏改变与脂肪营养不良和神经系统表现有关。在观察到的第一代人中，心力衰竭和脂肪营养不良的进展对预后产生负面影响，而在第二代人中，第一个表型表现在第二个十年后变得明显。心脏磁共振在早期检测心脏改变中发挥了相关作用。右束支传导阻滞是最初表型表达的另一个标志。结论对于层粘连蛋白A/C基因突变携带者，严格、多学科的随访有机会监测疾病的进展，并用最好的治疗进行提前干预。

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