Permanyer Eduard, Laurie Steven, Blasco-Lucas Arnau, Maldonado Giuliana, Amador-Catalan Amaya, Ferrer-Curriu Gemma, Fuste Berta, Perez Maria L, Gonzalez-Alujas Teresa, Beltran Sergi, Comas-Riu Jaume, Bardají Alfredo, Evangelista Artur, Galiñanes Manuel
Cardiac Surgery Department, QuironsaludTeknon Heart Institute, Barcelona, Spain; Reparative Therapy of the Heart, Valld'Hebron Research Institute (VHIR), Cardiac Surgery Department, University Hospital Valld'Hebron. Barcelona, Spain; Universitat PompeuFabra (UPF), Barcelona, Spain.
CNAG-CRG, Centre for Genomic Regulation, The Barcelona Institute of Science and Technology, Spain.
Eur J Med Genet. 2020 Apr;63(4):103854. doi: 10.1016/j.ejmg.2020.103854. Epub 2020 Jan 23.
Polyvalvularmyxomatous degeneration is a rare clinical condition. A 51-year-old male patient presented at our centre with all four heart valves with myxomatous degeneration and severe mitral and aortic regurgitation due to leaflet prolapse. The patient referred five further family members with valvular heart disease at different stages of presentation. The aim of this study was to investigate the genetic basis of this familial polyvalvularmyxomatous degeneration which was associated with mild dysmorphic facial anomalies and short stature.
A detailed family history was recorded. Nine members of the family, affected or not by valvular heart disease, were studied clinically, echocardiographically and by detailed genetic analyses.
Six of the nine family members had echocardiographic features of different degrees of degenerative heart valve disease. In addition, the affected subjects shared similar mild dysmorphic facial anomalies and short stature. Exome sequencing identified a rare heterozygous single nucleotide deletion in the TAB2 gene in all affected family members, which was absent in the unaffected members.
A variant in the TAB2 gene is proposed as the cause of syndromic congenital heart disease, displaying congenital myxomatous degenerative heart valve disease, mild dysmorphic fascial anomalies and short stature in this family.
多瓣膜黏液瘤样变性是一种罕见的临床病症。一名51岁男性患者前来我院就诊，其四个心脏瓣膜均有黏液瘤样变性，因瓣叶脱垂导致严重的二尖瓣和主动脉瓣反流。该患者还提及另外五名患有不同阶段瓣膜性心脏病的家庭成员。本研究旨在探究这种伴有轻度面部畸形异常和身材矮小的家族性多瓣膜黏液瘤样变性的遗传基础。
记录详细的家族病史。对该家族中九名成员（无论是否患有瓣膜性心脏病）进行临床、超声心动图及详细的基因分析研究。
九名家族成员中有六名具有不同程度退行性心脏瓣膜病的超声心动图特征。此外，患病个体还具有相似的轻度面部畸形异常和身材矮小。外显子组测序在所有患病家族成员中发现了TAB2基因中一个罕见的杂合单核苷酸缺失，而未患病成员中不存在该缺失。
在这个家族中，TAB2基因的一个变异被认为是导致综合征性先天性心脏病的原因，表现为先天性黏液瘤样退行性心脏瓣膜病、轻度面部畸形异常和身材矮小。
