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科威特一家族中诊断为扩张型心肌病的心脏性猝死:病例报告

Sudden cardiac death diagnosed with dilated cardiomyopathy in a Kuwaiti family: a case report.

作者信息

Bulbanat Bassam, Antony Dinu, Behbehani Kazem, Alsmadi Osama, Thomas Daisy, Kamkar Maisa Mahmoud

机构信息

Genetics and Genomics Unit/Dasman Genome Center, Biomedical Research Department, Dasman Diabetes Institute, Kuwait City, Kuwait.

出版信息

BMC Res Notes. 2014 Dec 16;7:914. doi: 10.1186/1756-0500-7-914.

Abstract

BACKGROUND

Dilated cardiomyopathy is myocardial disease characterized by dilatation and impaired contraction of the left ventricle or both left and right ventricle. The majority of these cases are secondary to coronary artery disease, hypertension and valvular cardiomyopathy. Patients diagnosed with dilated cardiomyopathy are further clinically evaluated for evidence of familial history of the disease. Those families have shown to have genetic predisposition to dilated cardiomyopathy; thus, currently there is no available single genetic test that allows comprehensive testing of all causative genes. We report a Kuwaiti case of dilated cardiomyopathy that was diagnosed at young age. The patient clinical presentation pointed out to the fact that this was a familial disease. This case is the first reported in Kuwait clinically presented with familial dilated cardiomyopathy implying a genetic susceptibility factor to be further investigated within the at-risk family members.

CASE PRESENTATION

23-year-old Arab ethnicity Kuwaiti male with strong family history of dilated cardiomyopathy was admitted witnessed with sudden cardiac death. The patient presented with sudden arrhythmic death and survived with permanent anoxic brain injury. Transthoracic echocardiography revealed dilated cardiomyopathy with severe global left ventricular systolic dysfunction. After thorough investigation, the patient shown to have strong family history of dilated cardiomyopathy.

CONCLUSION

Familial dilated cardiomyopathy is poorly documented in Kuwait. We present this case with future plan to study the genetic map of his family.

摘要

背景

扩张型心肌病是一种心肌疾病,其特征为左心室或左右心室扩张且收缩功能受损。这些病例大多数继发于冠状动脉疾病、高血压和瓣膜性心肌病。对诊断为扩张型心肌病的患者会进一步进行临床评估,以寻找该疾病家族史的证据。那些家族已显示出对扩张型心肌病有遗传易感性;因此,目前尚无一种单一的基因检测能够全面检测所有致病基因。我们报告一例科威特扩张型心肌病病例,该病例在年轻时被诊断。患者的临床表现表明这是一种家族性疾病。该病例是科威特首例临床诊断为家族性扩张型心肌病的病例,这意味着需要在有风险的家庭成员中进一步研究遗传易感因素。

病例介绍

一名23岁的科威特阿拉伯男性,有扩张型心肌病的家族病史,因心搏骤停入院。患者表现为心律失常性猝死,幸存下来但伴有永久性缺氧性脑损伤。经胸超声心动图显示扩张型心肌病伴严重的左心室整体收缩功能障碍。经过全面调查,该患者显示出有扩张型心肌病的家族病史。

结论

科威特关于家族性扩张型心肌病的记录很少。我们报告此病例,并计划在未来研究其家族的基因图谱。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb05/4301946/198dab99ca70/13104_2014_3412_Fig2_HTML.jpg

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