A de novo pathogenic BMP2 variant-related phenotype with the novel finding of bicuspid aortic valve.
Am J Med Genet A
; 185(2): 575-578, 2021 02.
Article
em En
| MEDLINE
| ID: mdl-33247540
ABSTRACT
A rare autosomal dominant syndrome with craniofacial dysmorphisms, skeletal abnormalities, short stature, and congenital heart defects has recently been described, associated with monoallelic truncating and frameshift bone morphogenetic protein 2 (BMP2) variants and deletions. We describe a patient harboring a novel de novo BMP2 nonsense variant, who exhibited craniofacial and skeletal features previously described for this trait and the novel findings of bicuspid aortic valve (BAV) and aortic root and ascending aortic aneurysm. This first instance of aortic valve involvement provides another potential cause of BAV and confirms the role of BMP2 in left ventricular outflow development.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Aneurisma Aórtico
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Anormalidades Craniofaciais
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Proteína Morfogenética Óssea 2
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Doença da Válvula Aórtica Bicúspide
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
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Adult
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article