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Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene.

Abstract

We report a 13-year-old girl with Loeys-Dietz syndrome (LDS) caused by a known transforming growth factor beta receptor II (TGFBR2) gene mutation, who developed aortic root dilatation and saccular aneurysm of the internal carotid artery. LDS is a rare, autosomal dominant aortic aneurysm syndrome with multisystem involvement. The disease is typically characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula/cleft palate. The characteristic LDS symptoms observed in the reported case included craniofacial dysmorphism (hypertelorism, cleft palate, blue sclerae, malar hypoplasia, retrognathia), skeletal deformities (scoliosis, talipes equinovarus, pectus deformity, arachnodactyly), congenital heart defects (patent ductus arteriosus, PDA), and arterial tortuosity and aneurysms. Molecular genetic testing revealed a heterozygous mutation (c.1610 G>C, p.R528C) in the serine-threonine kinase domain of the TGFBR2 gene. Magnetic resonance (MR) angiography showed aortic dilatation, tortuosity of bilateral supraaortic arteries, and saccular aneurysm on the right cervical internal carotid artery. LDS resembles Marfan-related disorders (Marfan, Shprintzen-Goldberg and vascular Ehlers-Danlos syndrome), but arterial tortuosity and aneurysms are characteristic for LDS, so a timely diagnosis of LDS is important for early diagnosis and intervention of aneurysms to prevent vascular events. Here, we describe a LDS patient who presented with arterial tortuosity and saccular aneurysm.

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  • Publisher Full Text

    • Authors

    Kiliç E, Alanay Y, Utine E, Ozgen-Mocan B, Robinson PN, Boduroğlu K

    Institution

    Division of Clinical Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

    Source

    The Turkish journal of pediatrics 54:2 pg 198-202

    MeSH

    Adolescent
    Aneurysm
    Aorta
    Carotid Artery, Internal
    Consanguinity
    Dilatation, Pathologic
    Female
    Humans
    Loeys-Dietz Syndrome
    Mutation
    Protein-Serine-Threonine Kinases
    Receptors, Transforming Growth Factor beta
    Torsion Abnormality
    Turkey
    Vascular Diseases

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    22734312