Cystic Hygroma: A Preliminary Genetic Study and a Short Review from the Literature

Giuseppe Noia, Paolo Enrico Maltese*, Giuseppe Zampino, Marco D'Errico, Vittoria Cammalleri, Paolo Convertini, Giuseppe Marceddu, Martina Mueller, Giulia Guerri, Matteo Bertelli

*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

2 Citazioni (Scopus)


BACKGROUND: The objective of this study is to examine the hypothesis that cystic hygroma (CH) with normal karyotype can manifest as a Mendelian inherited trait, and that a genetic similitude with hereditary lymphedema exists. To reach this goal, we investigated the prevalence of genetic variants in angiogenesis and lymphangiogenesis genes in a cohort of euploid fetuses with CH that almost resolved before delivery. A short review of cases from literature is also reported. METHODS AND RESULTS: Five fetuses were screened using a next-generation sequencing approach by targeting 33 genes known to be associated with vascular and lymphatic malformations. The genetic evaluation revealed two novel variants in KDR and KRIT1 genes. CONCLUSION: A review of the literature to date revealed that an association exists between CH and hereditary lymphedema and, similar to lymphedema, CH can be inherited in autosomal recessive and autosomal dominant manner, with the latter most likely associated with a better prognosis. About KDR and KRIT1 genes, no other similar associations are reported in the literature and caution is needed in their interpretation. In conclusion, we thought that a genetic test for the outcome of familial CH could be of enormous prognostic value.
Lingua originaleEnglish
pagine (da-a)30-39
Numero di pagine10
RivistaLymphatic Research and Biology
Stato di pubblicazionePubblicato - 2019


  • Female
  • Fetus
  • Gene Expression
  • Genetic Testing
  • Head and Neck Neoplasms
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Inheritance Patterns
  • KRIT1 Protein
  • Karyotyping
  • Lymphangiogenesis
  • Lymphangioma, Cystic
  • Lymphedema
  • Male
  • Models, Genetic
  • Mutation
  • Neovascularization, Pathologic
  • Prognosis
  • Ultrasonography
  • Vascular Endothelial Growth Factor Receptor-2
  • cystic hygroma
  • genetic testing
  • lymphedema
  • next-generation sequencing
  • vascular malformations


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