Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.
Am J Med Genet A
; 185(5): 1486-1493, 2021 05.
Article
in En
| MEDLINE
| ID: mdl-33683002
ABSTRACT
The RASopathies are a group of similar genetic syndromes with cardiovascular abnormalities, characteristic facial features, short stature, abnormalities of the skin and musculoskeletal system, and variable neurodevelopmental challenges. The most common cardiovascular abnormalities include pulmonary valvular stenosis and hypertrophic cardiomyopathy. Congenital polyvalvular disease (CPVD) refers to congenital dysplasia of two or more cardiac valves. We diagnosed a RASopathy in two individuals with CPVD and noted that CPVD in RASopathies has rarely been reported in the literature. Thus, we performed a retrospective chart review and literature review to investigate the association and characterize the phenotype of CPVD in the RASopathies. CPVD was present in 2.5% (n = 6/243) of individuals in our RASopathy cohort. Involvement of two cardiac valves, commonly the aortic and pulmonic valves, was seen in the majority of individuals (6/8; 75%) in our cohort, but only 27% (3/11) of reported CPVD and RASopathy cases in the literature. CPVD should be considered an associated cardiovascular phenotype of the RASopathies, which has implications for diagnosis and management.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pulmonary Valve Stenosis
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Cardiomyopathy, Hypertrophic
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Proto-Oncogene Proteins B-raf
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Protein Tyrosine Phosphatase, Non-Receptor Type 11
Limits:
Adolescent
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Child
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Child, preschool
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Female
/
Humans
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Infant
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Male
/
Newborn
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2021
Document type:
Article
Affiliation country: