Case report: Left ventricular noncompaction cardiomyopathy and RASopathies

Juli Ann Sublett, Carlos Enrique Prada, John Jefferies

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)680-684
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume60
Issue number12
DOIs
StatePublished - Dec 1 2017
Externally publishedYes

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Noonan Syndrome
Cardiomyopathies
Congenital Heart Defects
Hypertrophic Cardiomyopathy

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Case report : Left ventricular noncompaction cardiomyopathy and RASopathies. / Sublett, Juli Ann; Prada, Carlos Enrique; Jefferies, John.

In: European Journal of Medical Genetics, Vol. 60, No. 12, 01.12.2017, p. 680-684.

Research output: Contribution to journalArticle

Sublett, Juli Ann ; Prada, Carlos Enrique ; Jefferies, John. / Case report : Left ventricular noncompaction cardiomyopathy and RASopathies. In: European Journal of Medical Genetics. 2017 ; Vol. 60, No. 12. pp. 680-684.
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