Key result
A dominantly inherited disorder involving mitral valve prolapse, short stature, characteristic facial features, and sudden death was identified in eight individuals across four generations of a family.
Population
8 individuals across 4 generations of a family affected by a dominantly inherited disorder involving mitral…
Design
Case_series
Authors
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Raises awareness of a potential new dominantly inherited syndrome with mitral valve prolapse and sudden death; hypothesis-generating pending gene discovery and validation.
Case Report (n=8)
Describes a novel dominantly inherited syndrome combining mitral valve prolapse with specific dysmorphic features and a high risk of sudden cardiac death.
James et al. (2003) conducted a case report in Familial mitral valve prolapse (n=8). Dominantly inherited disorder involving MVP was evaluated. A dominantly inherited disorder involving mitral valve prolapse, short stature, characteristic facial features, and sudden death was identified in eight individuals across four generations of a family.
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