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Cardiovascular involvement in osteogenesis imperfecta
Insights
Osteogenesis imperfecta (OI) patients show mild aortic root dilatation in about 12% of cases, a nonprogressive trait. Valvular dysfunction is rare, suggesting distinct cardiovascular involvement in OI.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Rare Diseases
Background:
- Osteogenesis imperfecta (OI) is associated with aortic root dilatation and valvular dysfunction.
- The full spectrum of cardiovascular involvement in OI remains unclear.
Purpose of the Study:
- To delineate the nature and extent of cardiovascular abnormalities in individuals with osteogenesis imperfecta.
- To investigate the prevalence and characteristics of aortic root dilatation and valvular dysfunction in OI.
Main Methods:
- A clinical and echocardiographic survey was conducted on 109 individuals with nonlethal OI syndromes from 66 families.
- A subset of 66 individuals, with one member per family, was analyzed for aortic root dimensions and valvular function.
Main Results:
- Clinically significant valvular dysfunction was rare (4/109 individuals).
- Aortic root dilatation was identified in 12.1% (8/66) of the subset, with mild and nonprogressive findings.
- Dilatation occurred across OI syndromes but segregated within families (p < .001).
- Mitral valve prolapse in individuals aged ≥15 years (6.9%) did not differ from the general population.
Conclusions:
- Aortic root dilatation is a distinct, nonprogressive phenotypic trait in approximately 12% of OI patients.
- Valvular dysfunction is infrequent in OI.
- Further research is needed to determine if mitral valve prolapse is part of the OI cardiovascular phenotype or an independent genetic trait.
Abstract:
While aortic root dilatation and valvular dysfunction have been well-documented in osteogenesis imperfecta (OI), the nature and extent of cardiovascular involvement in OI have not been clearly delineated. A clinical and echocardiographic survey involving 109 individuals with various nonlethal OI syndromes from 66 separate families was undertaken. Clinically discernible valvular dysfunction was encountered in only four of the 109 individuals (aortic regurgitation in two, aortic stenosis in one, and mitral valve prolapse in one), none of whom were related. Aortic root dilatation was recognized echocardiographically in eight (12.1%) of 66 individuals comprising a subset of the sample in which each family was represented by a single individual. The extent of the aortic root dilatation was mild (the largest dimension measuring 4.3 cm) and was unrelated to the age of the individual. Dilatation was seen in each of the different OI syndromes but was strikingly segregated within certain families (p less than .001). In the same subset of 66 individuals, mitral valve prolapse was encountered in two or 6.9% of the 29 individuals aged 15 years or greater in whom adequate studies were obtained. This observed frequency was not different from that seen in a normal adult population. Aortic root dilatation appears to represent a distinct phenotypic trait in patients with OI that is nonprogressive and occurs in about 12% of affected individuals. Whether mitral valve prolapse should be considered as a part of the cardiovascular phenotype in OI, or alternately segregates as an independent autosomal dominant trait has yet to be determined.