Cardiac abnormalities detected by doppler imaging in patients with neurofibromatosis type 1
2001; Elsevier BV; Volume: 88; Issue: 10 Linguagem: Inglês
10.1016/s0002-9149(01)02062-8
ISSN1879-1913
AutoresMichele Adolfo Tedesco, Giovanni Di Salvo, Francesco Natale, Salvatore Caputo, Elvira Calabrese, Carolina Grassia, G Ratti, D Iarussi, A Iacono, Giuliana Lama,
Tópico(s)Cardiac tumors and thrombi
ResumoNeurofibromatosis includes at least 2 different autosomal dominant genetic disorders: neurofibromatosis (NF) type 1 and NF type 2. NF represents 95% of such cases with an incidence of 1 in 3,500 newborns and a prevalence of 1 in 4,500 newborns. 1 Riccardi V.M Von Recklinghausen neurofibromatosis. N Engl J Med. 1981; 27: 1617-1627 Crossref Scopus (999) Google Scholar , 2 Listermck R Charrow J Neurofibromatosis type 1 in childhood. J Pediatr. 1990; 16: 845-851 Abstract Full Text PDF Scopus (109) Google Scholar NF is characterized by its cutaneous manifestations, cafe au lait spots, lentigines, and neurofibromas with a variable clinical expression. Nearly 50% of patients have a negative family history. 3 Lama G Grassia C Avino G Esposito Salsano M Calabrese E Tarallo M.R Riccio V Cantone D Conforti R Costagliola C Melone M.R.A.B Scuotto A Neurofibromatosis type 1 in children: 10 years of experience. Riv Ital Pediatr. 1998; 24: 99-107 Google Scholar Vascular disease is an underestimated complication of NF that may involve large and smaller arteries. 4 Zachos M Parkin P.C Babyn P.S Chait P Neurofibromatosis type 1 vasculopathy associated with lower limb hypoplasia. Pediatrics. 1997; 100: 395-398 Crossref PubMed Scopus (20) Google Scholar , 5 Kurien A Jhon P.R Milford D.V Hypertension secondary to progressive vascular neurofibromatosis. Arch Dis Child. 1997; 76: 454-455 Crossref PubMed Scopus (49) Google Scholar Histologic examination reveals intimal proliferation, thinning of the media, fragmentation of elastic tissue, and dysplasia of the small vessels. 5 Kurien A Jhon P.R Milford D.V Hypertension secondary to progressive vascular neurofibromatosis. Arch Dis Child. 1997; 76: 454-455 Crossref PubMed Scopus (49) Google Scholar These may occur alone or coexist, and in some instances, the vascular disease may be widespread. 5 Kurien A Jhon P.R Milford D.V Hypertension secondary to progressive vascular neurofibromatosis. Arch Dis Child. 1997; 76: 454-455 Crossref PubMed Scopus (49) Google Scholar NF "knockout" mouse homozygous mutant embryos 6 Brannan C.l Perkins A.S Vogel K.S Ratner N Nordlund M.L Reid S.W Buchberg A.M Jenkins N.A Parada L.F Copeland N.G Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues. Genes Dev. 1994; 8: 1019-1029 Crossref PubMed Scopus (531) Google Scholar die with double-outlet right ventricle, a cardiovascular malformation attrìbuted to abnormal migration of ectomesenchymal cells 7 Clark E.B Epidemiology of congenital cardiovascular malformations. in: Emmanouilides G.C Allen H.D Riemenschneider T.A Gutgesell H.P Moss and Adams' Heart Disease in infants, Children, and Adolescents Including the Fetus and Young Adult. Williams & Wilkins, Baltimore1995: 60-70 Google Scholar derived from the cranial neural crest. 8 Kirby M.L Gale T.F Stewart D.E Neural crest cells contribute to aorticopulmonary septation. Science. 1983; 220: 1059-1061 Crossref PubMed Scopus (934) Google Scholar Furthermore, these embryos have enlarged and abnormal endocardial cushions 9 Lakkis M.M Epstein J.A Neurofibromin modulation of ras activity is required for normal endocardial-mesenchymal transformation in the developing heart. Development. 1998; 125: 4359-4367 PubMed Google Scholar that may obstruct forward blood flow in some cases. This anomaly suggests that neurofibromin, the NF protein product, is required for normal cardiac development. We were the first to demonstrate the presence of an abnormal vascular compliance in a large sample of patients with NF, unrelated to blood pressure. 10 Tedesco M.A Ratti G Di Salvo G Martiniello A.R Limongelli G Grieco M Calabrese E Grassia C Iacono A Lama G Noninvasive evaluation of arterial abnormalities in young patients with neurofibromatosis type 1. Angiology. 2000; 51: 733-741 Crossref PubMed Scopus (8) Google Scholar , 11 Tedesco M.A Di Salvo G Ratti G Natale F Calabrese E Grassia C Iacono A Lama G Arterial distensibility and ambulatory blood pressure monitoring in young patients with neurofibromatosis type 1. Am J Hypertens. 2001; 14: 550-557 Crossref Scopus (34) Google Scholar Unfortunately, despite the evidence of neurofibromin involvement in cardiac development, no information is thus far available about cardiac compliance of these patients. Pulsed Doppler tissue imaging (DTI) is a new technique that allows analysis of myocardial velocities and time intervals throughout the cardiac cycle. 12 Garcia Fernandez M.A Azevedo J Moreno M Bermejo J Perez-Castellano N Puerta P Desco N Antoranz C Serrano J.A Garcia E Delcan J Regional diastolic function in ischaemic heart disease using pulsed wave Doppler tissue imaging. Eur Heart J. 1999; 20: 496-507 Crossref PubMed Scopus (192) Google Scholar , 13 Uematsu M Miyatake K Tanaka N Matsuda H Sano A Yamazaki N Hirama M Yamagishi M Myocardial velocity gradient as a new indicator of regional left ventricular contraction detection by two-dimensional tissue Doppler imaging technique. J Am Coll Cardiol. 1995; 26: 217-223 Abstract Full Text PDF PubMed Scopus (308) Google Scholar It has been used in several studies, and it has been demonstrated that DTI provides additional information, detecting even minor diastolic changes in several diseases. 14 Farias C.A Rodriguez L Garcia M.J Sun J.P Klein A.L Thomas J.D Assessment of diastolic function by tissue Doppler echocardiography comparison with standard transmitral and pulmonary venous flow. J Am Soc Echocardiogr. 1999; 12: 609-617 Abstract Full Text Full Text PDF PubMed Scopus (189) Google Scholar Thus, the aim of our study was to analyze, for the first time, standard Doppler and DTI indexes of diastolic function in young patients with NF who were free of structural cardiovascular abnormalities.
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