Key result
A 2-year-old male child presented with failure to thrive and was diagnosed with Barlow's syndrome, bileaflet mitral valve prolapse, mitral annulus disjunction, and annuloaortic ectasia.
Why the study?
Genetically determined connective tissue deficiency predisposes to mitral valve prolapse, mitral annulus disjunction, and dehiscence of aortomitral annular fibrosa, with more severe phenotypes causing annuloaortic ectasia.
Case Report (n=1)
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This case highlights a rare and severe phenotype of connective tissue deficiency presenting with multiple complex structural heart defects in a toddler.
Genetically determined deficiency of connective tissue predisposes to the prolapsed mitral valve and an abnormal fibrous annulus including mitral annulus disjunction and dehiscence of aortomitral annular fibrosa. In a more severe phenotype, there may be abnormal aortic tissue, leading to annuloaortic ectasia. This report describes a 2-year-old male child who presented with failure to thrive and was found to have Barlow's syndrome with bileaflet mitral valve prolapse and mitral annulus disjunction, annuloaortic ectasia, and a pseudoaneurysm of interannular fibrosa. The case is reported for its interesting unifying linkage among various defects.
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Shukla et al. (2023) conducted a case report in Barlow's syndrome with multiple cardiac defects (n=1). A 2-year-old male child presented with failure to thrive and was diagnosed with Barlow's syndrome, bileaflet mitral valve prolapse, mitral annulus disjunction, and annuloaortic ectasia.
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