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Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.
Totten, Vicken; Teixido-Tura, Gisela; Lopez-Grondona, Fermina; Fernandez-Alvarez, Paula; Lasa-Aranzasti, Amaia; Muñoz-Cabello, Patricia; Kosaki, Rika; Tizzano, Eduardo F; Dewals, Wendy; Borràs, Emma; Cañas, Elena Gonzalez; Almoguera, Berta; Loeys, Bart; Valenzuena, Irene.
Afiliación
  • Totten V; Kaweah Health System, Visalia, California, USA.
  • Teixido-Tura G; Kayenta Health Center of the Indian Health Service, Kayenta, Arizona, USA.
  • Lopez-Grondona F; Department of Cardiology, Hospital Universitari Vall d'Hebron, CIBER-CV, Vall d'Hebron institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Fernandez-Alvarez P; Department of Genetics and Genomics, Hospital Universitario Fundacion Jimenez Diaz (IIS-FJD), Madrid, Spain.
  • Lasa-Aranzasti A; European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD Rare Disease Working Group, Barcelona, Spain.
  • Muñoz-Cabello P; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital. Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.
  • Kosaki R; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Barcelona, Spain.
  • Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital. Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.
  • Dewals W; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Barcelona, Spain.
  • Borràs E; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital. Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.
  • Cañas EG; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Barcelona, Spain.
  • Almoguera B; Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
  • Loeys B; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital. Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain.
  • Valenzuena I; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Barcelona, Spain.
J Med Genet ; 61(9): 870-877, 2024 Aug 29.
Article en En | MEDLINE | ID: mdl-38960581
ABSTRACT

BACKGROUND:

Tatton-Brown-Rahman syndrome (TBRS) is a rare disorder, caused by DNMT3A heterozygous pathogenic variants, and first described in 2014. TBRS is characterised by overgrowth, intellectual disability, facial dysmorphism, hypotonia and musculoskeletal features, as well as neurological and psychiatric features. Cardiac manifestations have also been reported, mainly congenital malformations such as atrial septal defect, ventricular septal defect and cardiac valvular disease. Aortic dilatation has rarely been described.

METHODS:

Here we have undertaken a detailed clinical and molecular description of eight previously unreported individuals, who had TBRS and arterial dilatation and/or dissection, mainly thoracic aortic aneurysm (TAA). We have also reviewed the seven previously published cases of TAA in individuals with TBRS to try to better delineate the vascular phenotype and to determine specific follow-up for this condition.

RESULTS:

We include eight new patients with TBRS who presented with arterial aneurysms mainly involving aorta. Three of these patients presented with dissection that required critical surgery.

CONCLUSIONS:

Arterial aneurysms and dissections are a potentially lethal, age-dependent manifestation. The prevalence of aortic disease in individuals with TBRS is far in excess of that expected in the general population. This cohort, together with individuals previously published, illustrates the importance to consider dilatation/dissection, mainly in aorta but also in other arteries. Arterial vascular weakness may therefore also be a cardinal feature of TBRS and vascular surveillance is recommended.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Disección Aórtica Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Disección Aórtica Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido