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Case report: Left ventricular noncompaction cardiomyopathy and RASopathies.
Sublett, Juli Ann; Prada, Carlos Enrique; Jefferies, John Lynn.
Afiliação
  • Sublett JA; The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, United States. Electronic address: juli.sublett@cchmc.org.
  • Prada CE; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, United States.
  • Jefferies JL; The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, United States.
Eur J Med Genet ; 60(12): 680-684, 2017 Dec.
Article em En | MEDLINE | ID: mdl-28911804
The following is a case report of 6 patients with Noonan syndrome (NS) and/or a related RASsopathy that also have evidence of left ventricular noncompaction cardiomyopathy (LVNC). Noonan syndrome,a type of RASopathy, is an autosomal dominant disorder that is typically associated with congenital heart defects and hypertrophic cardiomyopathy. There have been minimal reports of Noonan syndrome or other RASopathy and the association of LVNC. This report promulgates 6 nonrelated cases of Noonan syndrome or unspecified RASopathy and LVNC.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miocárdio Ventricular não Compactado Isolado / Síndrome de Noonan Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de publicação: Holanda

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miocárdio Ventricular não Compactado Isolado / Síndrome de Noonan Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de publicação: Holanda