Key result
Polyvalvular heart disease syndrome is a rare autosomal dominant connective tissue disorder that presents with characteristic facies and distinct echocardiographic features.
This case report highlights the characteristic facies and echocardiographic features of polyvalvular heart disease syndrome, aiding in the recognition of this rare genetic disorder in adults.
Answers are grounded in this paper and cite their sources.
May facilitate earlier recognition via facies and echo features; leaves open need for genetic validation and larger cohorts.
An adult case of polyvalvular heart disease syndrome diagnosed in an adult is presented. The characteristic facies and echocardiographic features of this rare autosomal dominant connective tissue disorder are presented.
No takes yet. Share an insight, caveat, or question.
Kerut et al. (2018) studied this question. Polyvalvular heart disease syndrome is a rare autosomal dominant connective tissue disorder that presents with characteristic facies and distinct echocardiographic features.
Synapse has enriched 10 related papers. Consider them for comparative context: