PDF(Pubmed)
Abstract：
UNASSIGNED: An interesting case that shows the importance of identifying a pathogenic TTN gene mutation through genetic assessment in unexplained cardiomyopathy, especially with family history. This case highlights the need for genetic counseling and testing for at-risk relatives, and advocates for personalized management considering both genetic and lifestyle factors.
UNASSIGNED: This case report examines a 33-year-old Hispanic male with bipolar disorder, schizophrenia, and a history of substance use, presenting with acute respiratory failure and cardiac arrest. The patient\'s nonischemic dilated cardiomyopathy (DCM) highlights the critical role of genetic factors, particularly titin gene (TTN) mutations, in cardiomyopathy pathogenesis. Through genetic analysis, we explore the intersection of lifestyle factors and genetic predisposition in DCM, underscoring the importance of comprehensive genetic testing for accurate diagnosis and targeted therapy. This case contributes to the evolving understanding of DCM etiology, emphasizing the necessity of considering both environmental and genetic factors in clinical assessment and management.
UNASSIGNED: This case report examines a 33-year-old Hispanic male with bipolar disorder, schizophrenia, and a history of substance use, presenting with acute respiratory failure and cardiac arrest. The patient\'s nonischemic dilated cardiomyopathy (DCM) highlights the critical role of genetic factors, particularly titin gene (TTN) mutations, in cardiomyopathy pathogenesis. Through genetic analysis, we explore the intersection of lifestyle factors and genetic predisposition in DCM, underscoring the importance of comprehensive genetic testing for accurate diagnosis and targeted therapy. This case contributes to the evolving understanding of DCM etiology, emphasizing the necessity of considering both environmental and genetic factors in clinical assessment and management.
摘要：
■一个有趣的案例，表明通过遗传评估在无法解释的心肌病中鉴定致病性TTN基因突变的重要性，尤其是有家族史的.这个案例凸显了对有风险亲属进行遗传咨询和检测的必要性,并提倡考虑遗传和生活方式因素的个性化管理。
本病例报告检查了一名33岁的西班牙裔男性双相情感障碍，精神分裂症,和物质使用的历史，出现急性呼吸衰竭和心脏骤停。患者的非缺血性扩张型心肌病（DCM）突出了遗传因素的关键作用，特别是肌动蛋白基因（TTN）突变，在心肌病发病机制中。通过基因分析,我们探索DCM中生活方式因素和遗传易感性的交叉，强调全面基因检测对准确诊断和靶向治疗的重要性。这个病例有助于对DCM病因的不断发展的理解，强调在临床评估和管理中同时考虑环境和遗传因素的必要性。
本病例报告检查了一名33岁的西班牙裔男性双相情感障碍，精神分裂症,和物质使用的历史，出现急性呼吸衰竭和心脏骤停。患者的非缺血性扩张型心肌病（DCM）突出了遗传因素的关键作用，特别是肌动蛋白基因（TTN）突变，在心肌病发病机制中。通过基因分析,我们探索DCM中生活方式因素和遗传易感性的交叉，强调全面基因检测对准确诊断和靶向治疗的重要性。这个病例有助于对DCM病因的不断发展的理解，强调在临床评估和管理中同时考虑环境和遗传因素的必要性。
