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Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome.
Mahamid, Jamal; Lorber, Avraham; Horovitz, Yoseph; Shalev, Stavit A; Collin, Gayle B; Naggert, Jürgen K; Marshall, Jan D; Spiegel, Ronen.
Afiliação
  • Mahamid J; Kupat Holim Meuhedet, Um El Fahem, Israel.
Pediatr Cardiol ; 34(2): 455-8, 2013 Feb.
Article em En | MEDLINE | ID: mdl-22447358
Alström syndrome (ALMS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report two brothers, 3 and 4 years of age and diagnosed with ALMS, who initially presented in infancy with severe dilated cardiomyopathy during febrile respiratory infection. The disease course in the two siblings was marked by significant intrafamilial variability. Although cardiomyopathy in the older sibling has mainly resolved thus allowing for the discontinuation of medical therapy, heart function in the younger sibling continues to deteriorate despite maximal drug support with furosemide, carvedilol, captopril, and aldospirone. Genetic analysis revealed homozygous mutations, c.8008C>T (R2670X), in ALMS1 resulting in premature protein truncation. This report further emphasizes the exceptional intrafamilial variability of ALMS, mainly during the natural course of cardiac disease.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA / Cardiomiopatia Dilatada / Proteínas / Códon sem Sentido / Irmãos / Síndrome de Alstrom Tipo de estudo: Etiology_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Pediatr Cardiol Ano de publicação: 2013 Tipo de documento: Article País de afiliação: Israel

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA / Cardiomiopatia Dilatada / Proteínas / Códon sem Sentido / Irmãos / Síndrome de Alstrom Tipo de estudo: Etiology_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Pediatr Cardiol Ano de publicação: 2013 Tipo de documento: Article País de afiliação: Israel