Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital, P. O. Box 4956 Nydalen, N-0424 Oslo, Norway.
Eur J Prev Cardiol. 2022 Oct 18;29(13):1789-1799. doi: 10.1093/eurjpc/zwac102.
To describe results from genetic testing for cardiomyopathies in a national laboratory for genetic testing in Norway since 2003.
Retrospective data collection from the laboratory information management system at Unit for Cardiac and Cardiovascular Genetics, Oslo University hospital. Data from 4408 probands and 3008 relatives were available. Three probands had two variants, nine had incidental findings of variants not related to their cardiomyopathy diagnosis. Of the remaining 4396 probands, 65.1% were males, age at genetic testing was 50.9 (±18.1) years and 6.1% were under the age of 18. A likely pathogenic or pathogenic variant (216 different variants including 67 novel) was detected in 574 probands, corresponding to a hit-rate of genetic testing of 13.1% in total, 11.9% in hypertrophic, 14.1% in dilated, and 14.9% in arrhythmogenic right ventricular cardiomyopathy. Of the 3008 relatives, 47.6 % were males, age at genetic testing was 39.3 (±20.5) years, 17.9% were under the age of 18, and 43.2% were positive for the variant found in their family. Probands and relatives combined, 1/2809 persons in Norway were found to be heterozygous for a cardiomyopathy variant. Next Generation Sequencing provided more findings in dilated cardiomyopathy, especially in TTN accounting for 44.2% of all variants. Otherwise, the majority of variants were found in the classical sarcomeric and desmosomal genes.
Genetic testing provided a genetic basis of the cardiomyopathy in 13.1% of probands, and subsequent family testing identified almost three times as many variant-positive relatives which could be offered preventive follow-up.
描述自 2003 年以来挪威国家遗传检测实验室进行的心肌疾病基因检测结果。
从奥斯陆大学医院心脏和心血管遗传学系的实验室信息管理系统中进行回顾性数据收集。可获得 4408 名先证者和 3008 名亲属的数据。3 名先证者有两种变异，9 名先证者有与心肌病诊断无关的偶然发现的变异。在其余的 4396 名先证者中，65.1%为男性，基因检测时的年龄为 50.9（±18.1）岁，6.1%年龄小于 18 岁。在 574 名先证者中检测到可能致病或致病的变异（216 种不同的变异，包括 67 种新变异），总检出率为 13.1%，其中肥厚型心肌病为 11.9%，扩张型心肌病为 14.1%，心律失常性右室心肌病为 14.9%。在 3008 名亲属中，47.6%为男性，基因检测时的年龄为 39.3（±20.5）岁，17.9%年龄小于 18 岁，43.2%为家族中发现的变异阳性。先证者和亲属合并，挪威每 2809 人中就有 1 人携带心肌疾病变异的杂合子。下一代测序（Next Generation Sequencing）在扩张型心肌病中提供了更多发现，尤其是在 TTN 中，占所有变异的 44.2%。否则，大多数变异发生在经典的肌节和桥粒蛋白基因中。
基因检测为 13.1%的先证者提供了心肌病的遗传基础，随后的家族检测确定了近三倍数量的变异阳性亲属，这些亲属可以接受预防性随访。
