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Maternal Loeys-Dietz syndrome (transforming growth factor ligand 2) in a twin pregnancy: Case report and discussion.

ABSTRACT: Loeys-Dietz syndrome is a rare autosomal dominant connective tissue disorder. Pregnant women with Loeys-Dietz syndrome are at increased risk of serious vascular and visceral complications, including aortic dissection and uterine rupture. Multidisciplinary tertiary management aims to mitigate such complications by preconception counselling and vascular assessment, medical therapy, regular echocardiography in pregnancy and joint decision-making re-mode and timing of delivery. We report an in vitro fertilisation twin pregnancy in a woman with Loeys-Dietz syndrome first seen at our institution at 26?weeks' gestation. After monitoring via serial echocardiograms, caesarean delivery occurred at 30?+?1?weeks' gestation to allow planned delivery with suspected fetal growth restriction before uterine distension was considered an indication. The patient was discharged on Day 9 with a planned early aortic root replacement due to an increase in diameter from 39 to 43?mm, followed by the discharge of twin boys at term equivalent.

SUBMITTER: Bashari H

PROVIDER: S-EPMC6542112 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Maternal Loeys-Dietz syndrome (transforming growth factor ligand 2) in a twin pregnancy: Case report and discussion.

Bashari Homira H Brooks Alexandra A O'Brien Orla O Brennecke Shaun S Zentner Dominica D

SAGE open medical case reports 20190529

Loeys-Dietz syndrome is a rare autosomal dominant connective tissue disorder. Pregnant women with Loeys-Dietz syndrome are at increased risk of serious vascular and visceral complications, including aortic dissection and uterine rupture. Multidisciplinary tertiary management aims to mitigate such complications by preconception counselling and vascular assessment, medical therapy, regular echocardiography in pregnancy and joint decision-making re-mode and timing of delivery. We report an in vitro ...[more]

PMID: 31191903

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Project description:BackgroundLarsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocations, and craniofacial abnormalities. The autosomal dominant type is caused by mutations in the gene that encodes the connective tissue protein, filamin B (FLNB). Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by arterial aneurysms, dissections and tortuosity, and skeletal, including craniofacial, manifestations. Mutations in five genes involved in the transforming growth factor beta (TGF-β) signaling pathway cause five types of LDS. Stickler syndrome is a genetically heterogeneous arthro-ophthalmopathy caused by defects in collagen, exhibiting a wide specter of manifestations in connective tissue. A rare case is reported that was diagnosed with all these three hereditary connective tissue disorders.Case presentationA 19 year-old, Norwegian male with a clinical diagnosis of Larsen syndrome and with healthy, non-consanguineous parents attended a reference center for rare connective tissue disorders. Findings at birth were hypotonia, joint hypermobility, hyperextended knees, adductovarus of the feet, cervical kyphosis, craniofacial abnormalities, and an umbilical hernia. From toddlerhood, he required a hearing aid due to combined conductive and sensorineural hearing loss. Eye examination revealed hyperopia, astigmatism, and exotropia. At 10 years of age, he underwent emergency surgery for rupture of an ascending aortic aneurysm. At 19 years of age, a diagnostic re-evaluation was prompted by the findings of more distal aortic dilation, tortuosity of precerebral arteries, and skeletal findings. High throughput sequencing of 34 genes for hereditary connective tissue disorders did not identify any mutation in FLNB, but did identify a de novo missense mutation in TGFBR2 and a nonsense mutation in COL2A1 that was also present in his unaffected father. The diagnosis was revised to LDS Type 2. The patient also fulfills the proposed criteria for Stickler syndrome with bifid uvula, hearing loss, and a known mutation in COL2A1.ConclusionLDS should be considered in patients with a clinical diagnosis of Larsen syndrome, in particular in the presence of arterial aneurysms or tortuosity. Due to genetic heterogeneity and extensive overlap of clinical manifestations, genetic high throughput sequencing analysis is particularly useful for the differential diagnosis of hereditary connective tissue disorders.

Dataset Information

Maternal Loeys-Dietz syndrome (transforming growth factor ligand 2) in a twin pregnancy: Case report and discussion.

Publications

Maternal Loeys-Dietz syndrome (transforming growth factor ligand 2) in a twin pregnancy: Case report and discussion.

Similar Datasets

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