Key result
A novel hereditary heart-hand syndrome was identified in 10 affected family members, featuring adult-onset progressive cardiac conduction disease, dilated cardiomyopathy, and unique brachydactyly.
Population
A family with 10 affected members in four generations suffering from adult-onset progressive sinoatrial and…
Design
Case_series
Authors
Loading...
Alerts clinicians to screen for conduction disease and cardiomyopathy in brachydactyly families; leaves open replication and gene identification.
Case Report (n=10)
This study identifies a potentially novel hereditary heart-hand syndrome characterized by adult-onset conduction disease, dilated cardiomyopathy, and brachydactyly.
Šinkovec et al. (2005) conducted a case report in Familial progressive sinoatrial and atrioventricular conduction disease, dilated cardiomyopathy, and brachydactyly (n=10). Novel hereditary heart-hand syndrome phenotype was evaluated on Phenotypic and genetic characterization. A novel hereditary heart-hand syndrome was identified in 10 affected family members, featuring adult-onset progressive cardiac conduction disease, dilated cardiomyopathy, and unique brachydactyly.
Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context: