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Phenotypes
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Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study
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  • Published on: 26 June 2023
    Reponse
    • Anne Marie Jelsig, MD, Ph.D Dpt, of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark

    To Angela E. Lin, medical geneticist, Mass General for Children (Massachusetts General Hospital. Thank you for your interest in our publication.
    We agree, as we mention as part of our conclusion, that surveillance regarding aorthopathy in JP-HHT is important. Danish patients with JP-HHT are systematically recommended cardiovascular assessment, including echocardiogram, in addition to HHT-and GI-surveillance.

    Conflict of Interest:
    None declared.
  • Published on: 26 June 2023
    Expanding the phenotype of SMAD4-HHT: Connective tissue abnormalities and severe cardiovascular disease
    • Angela E. Lin, medical geneticist Mass General for Children (Massachusetts General Hospital)

    We applaud the Danish registry's wonderful contribution to the field of SMAD4-HHT research. We would like to alert readers to our recent review of 19 individuals (one new) about the connective tissue features, and severe aortic and valvar disease (Gheewalla et al., 2022). In addition, we called attention to the opposing phenotypes of SMAD4-HHT and SMAD4-Myhre syndrome as a result of loss-of-function and gain-of-function pathogenic variants, respectively. The nearly simultaneous publication of our paper would have prevented inclusion in this current article.
    REFERENCE: Gheewalla, G. M., Luther, J., Das, S., Kreher, J. B., Scimone, E. R., Wong, A. W., Lindsay, M. E., & Lin, A. E. (2022). An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. American journal of medical genetics. Part A, 10.1002/ajmg.a.62915. Advance online publication. https://doi.org/10.1002/ajmg.a.62915

    Conflict of Interest:
    None declared.