Article
Variable clinical course of identical twin neonates with Alström syndrome presenting coincidentally with dilated cardiomyopathy.
American journal of medical genetics. Part A - 1 Jun 2017
Hollander Seth A, Alsaleh Norah, Ruzhnikov Maura, Jensen Kristen, Rosenthal David N, Stevenson David A, Manning Melanie
Abstract excerpt
Alström Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report monozygotic twin infants who presented concurrently with symptoms of congestive heart failure (CHF) due to dilated cardiomyopathy (DCM). Following their initial presentation, one twin improved both echocardiographically and functionally while the other twin showed a progressive decline in ventricular...
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