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Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature
Cardiology in the Young ( IF 0.9 ) Pub Date : 2021-08-13 , DOI: 10.1017/s1047951121003097
Yasemin Nuran Donmez 1 , Dilek Giray 1 , Serdar Epcacan 1 , Emine Goktas 2 , Ebru Aypar 3
Affiliation  

Seckel syndrome is a very rare autosomal recessive disorder also known as bird headed dwarfism”. It is characterised by proportional short stature, low birth weight, dysmorphic facial appearance, and mental retardation. In addition to its dysmorphic features, skeletal, endocrine, gastrointestinal, haematologic, genitourinary, and nervous system has been involved. Cardiovascular features very rarely associate with Seckel syndrome. We report two patients with Seckel syndrome, one with dilated cardiomyopathy and the other with multiple ventricular septal defects. Dilated cardiomyopathy and isolated ventricular septal defect have not been previously reported in Seckel syndrome. Cardiovascular evaluation should be performed in all patients with Seckel syndrome. Early diagnosis of congenital and acquired heart diseases will reduce morbidity and mortality in these patients.

中文翻译:

Seckel综合征心血管异常:2例患者报告及文献复习

Seckel 综合征是一种非常罕见的常染色体隐性遗传病,也称为鸟头侏儒症”。它的特点是身材比例矮小、出生体重低、面部外观畸形和智力低下。除了其畸形特征外,还涉及骨骼、内分泌、胃肠道、血液系统、泌尿生殖系统和神经系统。心血管特征很少与 Seckel 综合征相关。我们报告了两名 Seckel 综合征患者,一名患有扩张型心肌病,另一名患有多发性室间隔缺损。扩张型心肌病和孤立性室间隔缺损之前在 Seckel 综合征中未见报道。所有 Seckel 综合征患者均应进行心血管评估。
更新日期:2021-08-13
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