Fatih ŞAP, Hayrullah ALP, Tamer BAYSAL, Sevim KARAASLAN, Zehra KARATAŞ, Hakan ALTIN

Ellis-van Creveld Sendromu (Kondroektodermal Displazi) Bir Olgunun Sunumu: Tek Atrium ve Persistan Sol Süperior Vena Kava Birlikteliği

Ellis-van Creveld (EvC) sendromu, otosomal resesif olarak kalıtılan nadir bir kondral ve ektodermal hastalıktır. Kondro ve ektodermal displazi, polidaktili ve konjenital kalp defektleri bu sendromun karakteristik bulgularıdır. Tek atrium ve endokardiyal yastık defektlerinin bu sendromda en sık rastlanan konjenital kalp defektleri olduğu bildirilmektedir. EvC sendromunun nadir görülmesi nedeni ile ekokardiyografik ve anjiyokardiyografik incelemede, tek atrium ve persistan sol süperior vena kava gibi doğumsal kalp anomalilerinin yanı sıra EvC sendromunun diğer klasik bulguları saptanan dört yaşındaki kız hasta sunulmuştur.

Anahtar Kelimeler:

Ellis-van Creveld sendromu, Kalp atriumu, Konjenital kalp defekti, Süperior vena kava

Ellis-van Creveld Syndrome (Chondroectodermal Dysplasia) A Case Report: Association of Common Atrium and Persistent Left Superior Vena Cava

The Ellis-van Creveld (EvC) syndrome (EvC) is a rare chondral and ectodermal dysplasia inherited autosomal recessively. The EvC syndrome is characterized by chondrodysplasia and ectodermal dysplasia, polydactyly, and congenital cardiac defects. It is reported that common atrium and endocardial cushion defects are the most common congenital cardiac defects in patients with the EvC syndrome. Here, a four-year-old girl with the diagnostic features of EvC syndrome and a common atrium with persistent left superior vena cava demonstrated by echocardiographic and angiocardiographic investigations is described because of the rarity of this syndrome

Keywords:

Ellis-van Creveld syndrome, Heart atrium, Congenital heart defect, Superior vena cava,

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