Sülü Ayşe, Başpınar Osman, Şahin Derya Aydın
Division of Pediatric Cardiology, Department of Pediatrics, Gaziantep University Faculty of Medicine, Gaziantep, Turkey.
Department of Pediatric Cardiology, Süleymaniye Maternity Training and Research Hospital, İstanbul, Turkey.
Turk Pediatri Ars. 2019 Jul 11;54(2):119-124. doi: 10.5152/TurkPediatriArs.2018.4658. eCollection 2019.
Cutis laxa tip1b is a rare autosomal recessive disorder caused by FBLN 4 mutation and primarily characterized by vascular anomalies. Herein, we present five patients who are the members of the same family. The primary cardiac findings of these patients were giant aortic aneurysms. One 2.5-year-old patient with a massive aneurysm of the ascending aorta died as a result of compression to the heart chambers, trachea, and bronchi. The bentall procedure was performed in three of our patients who are under follow-up. One patient is still under clinical follow-up without surgery. After the diagnosis of the first patient, a genetic study was performed in which FBLN 4 mutations were investigated. Four new patients were detected during genetic screening of the family. Other 29 family members were screened bur were negative in physical examinations and echocardiography. Pedigree is important for early diagnosis of genetic diseases in asymptomatic individuals.
皮肤松弛症tip1b是一种由FBLN 4突变引起的罕见常染色体隐性疾病，主要特征为血管异常。在此，我们介绍来自同一家庭的五名患者。这些患者的主要心脏表现为巨大主动脉瘤。一名2.5岁患有升主动脉巨大动脉瘤的患者因心脏腔室、气管和支气管受压而死亡。我们三名接受随访的患者接受了Bentall手术。一名患者仍在临床随访中，未进行手术。在首例患者确诊后，进行了一项基因研究，对FBLN 4突变进行了调查。在该家族的基因筛查中又发现了四名新患者。对其他29名家庭成员进行了筛查，但体格检查和超声心动图检查均为阴性。家系图谱对于无症状个体遗传性疾病的早期诊断很重要。
