Pp-343 Dilated Cardiomyopathy in a Patient With Neurofibromatosis Type 1

Doğan, Aşkın; Aksoy, Hülya; Okutucu, Sercan; Karakulak, U.N.; Evranos, Berna; Fatihoğlu, Ş.G.; Sabanov, C.; Aytemir, Kudret; Oto, A.

doi:10.1016/s0167-5273(12)70513-2

Cited by 2 publications

(3 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Lin et al (2000) in their series did not report any case of cardiomyopathy but showed in their review of literature that reports of cardiomyopathy in patients with NF1 are predominantly hypertrophic cardiomyopathy. Although rare, there have been reports of dilated cardiomyopathy associated with neurofibromatosis (Chhabra & Singh, 2019; Dogan et al, 2012).…”

Section: Discussionmentioning

confidence: 99%

Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1

Ekure,

Musa,

Ulonnam

et al. 2023

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Neurofibromatosis type 1 is an autosomal dominant multisystemic disease caused by mutation of the neurofibromin (NF1) gene located on chromosome 17q11. We report a case of Neurofibromatosis 1 with ambiguous genitalia, giant congenital melanocytic nevus, and associated subpulmonic outlet ventricular septal defect, hitherto unreported in sub‐Saharan Africa. In addition, a literature review of congenital heart diseases associated with Neurofibromatosis 1 is presented.

show abstract

Section: Discussionmentioning

confidence: 99%

Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1

Ekure,

Musa,

Ulonnam

et al. 2023

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Recently, a rare case of co-existing DCM and NF1 has been reported in a 44-year-old male [56]. Chest x-ray showed cardiomegaly and pulmonic congestion while laboratory results were unremarkable.…”

Section: Neurofibromatosis Typementioning

confidence: 96%

“…Nearly all clinical forms of RASopathy-associated CM present with hypertrophied ventricular myocardium. However, some case reports have suggested in some RASopathies, a variant of DCM may develop, although a rarity [56,101] Notably, the over-expression of the DCM-associated RAF1 mutations resulted in a consistent activation of AKT and its downstream target tuberin. Examination of the effects of DCM-associated RAF1 mutations in vivo, zebrafish models generated by injecting mRNAs into 1-cell embryos.…”

Section: Dilated Cardiomyopathy Variantmentioning

confidence: 99%

RASopathy-associated Cardiomyopathy

Albakri¹

2019

Int Med Care

View full text Add to dashboard Cite

RASopathies are a family of developmental disorders that share germline mutations in the components of the RAS-MAPK pathway leading to dysregulated signalling. A high prevalence of hypertrophic cardiomyopathy (HCM) in these patients suggested genetic involvement. Whether RASopathies are an aetiology of HCM or a comorbidity with ominous prognostic implications remained a debatable issue for sometimes in the past. However, recent evidence demonstrates RASopathies can result in a specific form of cardiomyopathy (CM), particularly in the paediatric population. Although this type of CM shares many pathologic cardiac manifestations with HCM, it is a more severe form with significantly higher mortality rates. Same to other genetic diseases, RASopathies have a very low prevalence, and hence, neglected in pathophysiological research. Consequently, pathogenic mechanisms of RASopathy-associated CM remains unclear and lacks aetiological treatment. Clinical overlap between RASopathy phenotypes, extensive cardiac variability within each phenotype and within families, and between unrelated individuals with the sane genetic mutation has complicated diagnosis and treatment. Thus, the understanding of RASopathy-associated CM and accurate diagnosis is essential to guide the choice of the most appropriate treatment. This paper reviews published evidence on RASopathy-associated CM with a focus on its phenotypic expression, pathogenesis, clinical evaluation and management.

show abstract

Pp-343 Dilated Cardiomyopathy in a Patient With Neurofibromatosis Type 1

Cited by 2 publications

References 0 publications

Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1

Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1

RASopathy-associated Cardiomyopathy

Contact Info

Product

Resources

About