Variable clinical course of identical twin neonates with Alström syndrome presenting coincidentally with dilated cardiomyopathy.

Autor: Hollander SA; Department of Pediatrics (Cardiology), Stanford University Medical Center, Stanford, California., Alsaleh N; Department of Pediatrics (Medical Genetics), Stanford University Medical Center, Stanford, California., Ruzhnikov M; Department of Pediatrics (Medical Genetics), Stanford University Medical Center, Stanford, California., Jensen K; Solid Organ Transplant Services, Lucile Packard Children's Hospital, Stanford, California., Rosenthal DN; Department of Pediatrics (Cardiology), Stanford University Medical Center, Stanford, California., Stevenson DA; Department of Pediatrics (Medical Genetics), Stanford University Medical Center, Stanford, California., Manning M; Department of Pediatrics (Medical Genetics), Stanford University Medical Center, Stanford, California.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Jun; Vol. 173 (6), pp. 1687-1689. Date of Electronic Publication: 2017 Apr 13.
DOI: 10.1002/ajmg.a.38200
Abstrakt: 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 function and worsening CHF symptoms requiring multiple hospitalizations and augmentation of heart failure therapy. Concordant findings of nystagmus, vision loss, and developmental delay were noted in both twins. Additional discordant findings included obesity and signs of insulin resistance in one twin. Genetic testing on one sibling confirmed AS. These twins underscore the importance of considering AS in any child presenting with DCM, particularly in infancy, and highlights that, even in monozygotic twins, the clinical course of AS is variable with regard to both the cardiac and non-cardiac manifestations of the disease.
(© 2017 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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