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- Title
Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy.
- Authors
Maron, Barry J.; Roberts, William C.; Arad, Michael; Haas, Tammy S.; Spirito, Paolo; Wright, Gregory B.; Almquist, Adrian K.; Baffa, Jeanne M.; Saul, J. Philip; Ho, Carolyn Y.; Seidman, Jonathan; Seidman, Christine E.
- Abstract
The article presents a study seeking to determine the clinical consequences and phenotypic expression of X-linked lysosome-associated membrane protein genes (LAMP2) and cardiomyopathy associated with diagnostic and management strategies. The design and setting of the clinical study involving 7 young patients with defined LAMP2 mutations is explained. The medical outcomes measured include progressive heart failure, cardiac death, and transplant. Research showed that LAMP2 cardiomyopathy is characterized by progressive deterioration leading rapidly to cardiac death in young patients, suggesting the importance of timely molecular diagnosis and early consideration of heart transplant.
- Subjects
CARDIOMYOPATHIES; LYSOSOMES; HEART failure patients; MEMBRANE proteins; PHENOTYPIC plasticity; HEART transplantation; GENE expression; CARDIAC arrest; DISEASES; DIAGNOSIS
- Publication
JAMA: Journal of the American Medical Association, 2009, Vol 301, Issue 12, p1253
- ISSN
0098-7484
- Publication type
Article
- DOI
10.1001/jama.2009.371