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Surgical treatment of Loeys-Dietz syndrome in a 3-year-old: case report and review of literature.

ABSTRACT: Aortic complications of Loeys-Dietz syndrome (LDS) rarely present in children. Here we describe a case of LDS type 2 in a 3-year-old child with severe aortic root dilation and severe aortic regurgitation. A Bentall procedure combined with a Cabrol-type coronary modification was used to treat this child. In order to minimize the need for reintervention as the child grows. We chose a composite valve-graft by a St Jude Regent 21# mechanical valve seated within a 24 mm Gore-Tex graft to finish the Bentall procedure. Echocardiographic studies demonstrated good valve and ventricular function at 1-year follow-up. This child is one of the youngest LDS patients to receive a Bentall procedure and the way using a composite valve-graft to finish the operation can provide a reference for the surgical strategies of such patients in the future. Children with LDS and severe aortic annulus dilatation combined with severe aortic valve regurgitation require early surgical intervention, and implantation of a mechanical valved-conduit can be utilized successfully. Life-long follow-up of the valved-conduit and arterial vessels of these patients is necessary. The experience gained from this case contributes to the management of the rare LDS patient who presents at an early age with aortic root and valve pathology. Close monitoring and early intervention are important.

SUBMITTER: Tian M

PROVIDER: S-EPMC7658765 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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Surgical treatment of Loeys-Dietz syndrome in a 3-year-old: case report and review of literature.

Tian Miao M Si Ming-Sing MS Zhang Yong Y Ding Yu Y Chen Jimei J

Translational pediatrics 20201001 5

Aortic complications of Loeys-Dietz syndrome (LDS) rarely present in children. Here we describe a case of LDS type 2 in a 3-year-old child with severe aortic root dilation and severe aortic regurgitation. A Bentall procedure combined with a Cabrol-type coronary modification was used to treat this child. In order to minimize the need for reintervention as the child grows. We chose a composite valve-graft by a St Jude Regent 21# mechanical valve seated within a 24 mm Gore-Tex graft to finish the B ...[more]

PMID: 33209733

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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.

Project description:Background and purposeLoeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Its neuroradiologic manifestations have not been well delineated. We sought to describe the neuroradiologic features of LDS and to assess the manifestations that would warrant follow-up imaging.Materials and methodsTwo neuroradiologists retrospectively reviewed CT angiography (CTA), MR imaging, and plain film studies related to the head and neck in 25 patients ranging from 1 to 55 years of age, all of whom had positive genetic testing and clinical characteristics of LDS. Arterial tortuosity was evaluated by subjective assessment of 2D and 3D volumetric CTA and MR angiography data. Craniosynostosis and spinal manifestations were assessed by using plain films and CT images. MR images mostly of the head were reviewed for associated findings such as hydrocephalus, Chiari malformation, etc. Clinical manifestations were collated from the electronic patient record.ResultsAll patients had extreme arterial tortuosity, which is characteristic of this syndrome. Thirteen patients had scoliosis, 12 had craniosynostosis, 8 had intracranial aneurysms, 6 had spinal instability, 3 had dissections of the carotid and vertebrobasilar arteries, 3 had hydrocephalus, 4 had dural ectasia, 2 had a Chiari malformation, and 1 had intracranial hemorrhage as a complication of vascular dissection.ConclusionsSignificant neuroradiologic manifestations are associated with LDS, predominantly arterial tortuosity. Most of the patients in this series were young and, therefore, may require serial CTA monitoring for development of intra- and extracranial dissections and aneurysms, on the basis of the fact that most of the patients with pseudoaneurysms and dissection were older at the time of imaging. Other findings of LDS such as craniosynostosis, Chiari malformation, and spinal instability may also need to be addressed.

Dataset Information

Surgical treatment of Loeys-Dietz syndrome in a 3-year-old: case report and review of literature.

Publications

Surgical treatment of Loeys-Dietz syndrome in a 3-year-old: case report and review of literature.

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