A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement

被引：8

作者：

Lan, Nick Si Rui ^{[1
]}

Fietz, Michael ^{[2
]}

Pachter, Nicholas ^{[3
]}

Paul, Vincent ^{[4
]}

Playford, David ^{[5
]}

机构：

[1] Univ Western Australia, 35 Stirling Highway, Crowley, WA 6009, Australia

[2] Queen Elizabeth II Med Ctr, PathWest Lab Med, Hosp Ave, Nedlands, WA 6009, Australia

[3] King Edward Mem Hosp Women, 374 Bagot Rd, Subiaco, WA 6008, Australia

[4] Fiona Stanley Hosp, 11 Robin Warren Dr, Murdoch, WA 6150, Australia

[5] Univ Notre Dame, 32 Mouat St, Fremantle, WA 6160, Australia

来源：

CARDIOVASCULAR PATHOLOGY | 2018年 / 35卷

关键词：

Cardiomyopathies; Heart valve diseases; Ehlers-Danlos syndrome; Type IV; Collagen disorder; Isolated left ventricular noncumpaction; Echocardiography; Transesophageal echocardiography; COL3A1 gene mutation; ADULT PATIENTS;

D O I：

10.1016/j.carpath.2018.04.006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Ehlers-Danlos Syndrome comprises a heterogeneous group of heritable connective tissue disorders resulting from various gene mutations. We present an unusual case of vascular Ehlers-Danlos Syndrome with distinctive physical characteristics and a carcliomyopathy with features suggesting isolated left ventricular non-compaction. The cardiac features represent the first report of a carcliomyopathy associated with a mutation in the COL3A1 gene. This case also illustrates the multi-system nature of Ehlers-Danlos Syndrome and the complexity of managing patients with the vascular subtype. (C) 2018 Elsevier Inc. All rights reserved.

引用

页码：48 / 51

页数：4

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