Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

Angela E. Lin, Patricia H. Birch, Bruce R. Korf, Romano Tenconi, Michihito Niimura, Minna Poyhonen, Kim Armfield Uhas, Mauro Sigorini, Raffaele Virdis, Corrado Romano, Eugenio Bonioli, Pierre Wolkenstein, Eniko K. Pivnick, Marcella Lawrence, J. M. Friedman

Research output: Contribution to journalArticlepeer-review


Although it is well recognized that a peripheral vasculopathy may occur in patients with neurofibromatosis 1 (NF1), it is unclear whether cardiovascular abnormalities are more common. We reviewed the frequency of cardiovascular abnormalities, in particular, cardiovascular malformations (CVMs), among 2322 patients with definite NF1 in the National Neurofibromatosis Foundation International Database from 1991-98. Cardiovascular malformations were reported in 54/2322 (2.3%) of the NF1 patients, only 4 of whom had Watson syndrome or NF1-Noonan syndrome. There was a predominance of Class II 'flow' defects [Clark, 1995: Moss and Adams' Heart Disease in Infants, Children, and Adolescents Including the Fetus and Young Adult. p 60-70] (43/54, 80%) among the NF1 patients with CVMs. Pulmonic stenosis, that was present in 25 NF1 patients, and aortic coarctation, that occurred in 5, constitute much larger proportions of all CVMs than expected. Of interest was the paucity of Class I conotruncal defects (2 patients with tetralogy of Fallot), and the absence of atrioventricular canal, anomalous pulmonary venous return, complex single ventricle and laterality defects. Besides the 54 patients with CVMs, there were 27 patients with other cardiac abnormalities (16 with murmur, 5 with mitral valve prolapse, 1 with intracardiac tumor, and 5 with electrocardiogram abnormalities). No patient in this study had hypertrophic cardiomyopathy. There were 16 patients who had a peripheral vascular abnormality without an intracardiac CVM, plus an additional 4 patients among those with a CVM who also had a peripheral vascular abnormality. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)108-117
Number of pages10
JournalAmerican Journal of Medical Genetics
Issue number2
Publication statusPublished - Nov 13 2000


  • Cardiovascular malformation
  • Congenital heart defect
  • Database
  • Hypertrophic cardiomyopathy
  • Neurofibromatosis type 1
  • NF1
  • NF1-Noonan syndrome
  • Peripheral arterial stenosis
  • Pulmonic stenosis
  • Watson syndrome

ASJC Scopus subject areas

  • Genetics(clinical)


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