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目的:评价基因检测在指导肥厚型心肌病(HCM)女性患者受孕方式选择及发现有患病风险的一级家属家族成员的意义与价值。方法:对1例39岁女性患者进行详细临床评估及遗传基因检测,并对其家族成员进行特定性突变基因检测,根据检测结果指导患者选择合适受孕方式,评估家族成员患病风险,并对其提供临床咨询。结果:超声心动图提示HCM,基因检测发现心肌肌钙蛋白I(TNNI3)基因c.700g>a杂合子突变,突变位点处在TNNI3基因保守区域。给予患者植入式体内自动除颤器置入作为一级预防,并建议其通过健康女性卵子捐献体外受精方式再次生育。4位家族成员进行特定突变检测,未发现相同突变,避免了不必要的临床评估及长期随访。结论:对于已知先证者致病基因突变,家族成员进行特定性突变基因检测,不但能够对受累个体提供重要临床咨询,并且能指导其家族成员及后代将来的管理与治疗。
OBJECTIVE: To evaluate the significance and value of genetic testing in first-degree family members of women who are candidates for the selection of the mode of pregnancy and at risk of developing the disease in women with hypertrophic cardiomyopathy (HCM). Methods: A 39-year-old female patient underwent detailed clinical evaluation and genetic testing, and the members of the family were tested for specific mutations. According to the test results, the patients were selected to choose appropriate pregnancy methods to assess the risk of family members. Provide clinical advice. Results: Echocardiography suggested HCM, gene mutation of c.700g> a of cardiac troponin I (TNNI3) gene was detected in the genetically conserved region of TNNI3. Patients were given implantable in vivo defibrillator placement as a primary prevention and suggested that they be fertilized again by means of IVF by healthy female eggs. Four of the family members were tested for specific mutations and no identical mutations were found, avoiding unnecessary clinical evaluation and long-term follow-up. CONCLUSIONS: In the case of known probands with pathogenic mutations, the detection of specific mutant genes by family members not only provides important clinical counseling to affected individuals, but also guides the management and treatment of their family members and future generations.