title: Noninvasive evaluation of arterial abnormalities in young patients with neurofibromatosis type 1.
abstract: Neurofibromatosis regroups at least two different autosomal dominant genetic disorders: neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). Vascular disease is an underestimated complication of NF1. Few studies are available on this, all based on case reports. Neurofibromin, NF1 protein product, has also been detected in aortic smooth muscle. The purpose of this study was to evaluate the physical properties of the vessels, by measuring the carotid-femoral pulse wave velocity (PWV). This parameter was assessed by the Complior, a new noninvasive, validated device, used to screen a large population. The authors studied 64 neurofibromatosis patients (34 boys and 30 girls) with a mean age of 12 years (range 5-25 years). To investigate the presence of vascular lesions, aortic stiffness was evaluated by carotid-femoral PWV by using an automatic processor (Complior). They compared data from the PWV with a control group (30 healthy children, 17 boys and 13 girls, mean age 11 years, range 5-23 years). The calculated mean PWV in the control group was 6.5 +/- 1.15 m/s. The mean PWV of the 64 young patients with NF1 was 6.3 +/- 1.02 m/s. There was no difference between the two groups (p=0.39). Nevertheless, analysis of the linear regression has shown a linear relationship between systolic blood pressure (SBP) and PWV in the control group, while in NF1 patients this relationship is not present. The authors suggest that the coexistence of different factors, such as intimal proliferation, thinning media, fragmentation of the elastic tissue, irregularity, stenosis and tortuosity of the vessels, dysplasia of the small vessels, that counterbalance PWV, normalize the mean value. They emphasize the importance of a careful vascular evaluation, using noninvasive method, such as Complior. This device is well accepted by NF1 patients.
authors.affiliation: Medical Surgical Institute of Cardiology, Second University of Naples, Italy.
authors.forename: M A
authors.initials: MA
authors.lastname: Tedesco
authors.forename: G
authors.initials: G
authors.lastname: Ratti
authors.forename: G
authors.initials: G
authors.lastname: Di Salvo
authors.forename: A R
authors.initials: AR
authors.lastname: Martiniello
authors.forename: G
authors.initials: G
authors.lastname: Limongelli
authors.forename: M
authors.initials: M
authors.lastname: Grieco
authors.forename: E
authors.initials: E
authors.lastname: Calabrese
authors.forename: C
authors.initials: C
authors.lastname: Grassia
authors.forename: A
authors.initials: A
authors.lastname: Iacono
authors.forename: G
authors.initials: G
authors.lastname: Lama
mesh_terms: D000293:Adolescent; D000328:Adult; D001783:Blood Flow Velocity / Q000235:genetics / Q000502:physiology; D001794:Blood Pressure / Q000235:genetics / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D004548:Elasticity; D005260:Female; D015972:Gene Expression Regulation, Neoplastic / Q000502:physiology; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009131:Muscle, Smooth, Vascular / Q000503:physiopathology; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D025542:Neurofibromin 1; D011673:Pulsatile Flow / Q000235:genetics / Q000502:physiology; D012016:Reference Values; D012815:Signal Processing, Computer-Assisted / Q000295:instrumentation; D017539:Tunica Intima / Q000503:physiopathology; D014652:Vascular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology
chemical_list: D009419:Nerve Tissue Proteins; D025542:Neurofibromin 1