Abstract
Marfan syndrome (MS) is a connective tissue disease involving the cardiovascular, ocular, and the musculoskeletal systems. MS has variable phenotypic expression and is most often diagnosed in adult life. Infantile-onset MS is rare and is associated with severe cardiovascular manifestations; there is an extremely high mortality during the first 2 years of life. We present a case of a child with severe infantile MS who, during the course of infancy and early childhood, developed aortic root dilatation and polyvalvar insufficiency requiring subsequent successful replacement of the aortic root and of all cardiac valves. To our knowledge, this is the first reported case of quadrivalvar replacement in the pediatric age group.
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Booms P, Cisler J, Mathews KR, et al. (1999) Novel exon skipping mutation in the fibrillin I gene: two “hotspots” for the neonatal Marfans syndrome. Clin Genet 55:110–117
Caldarone CA, Raghuveer G, Hills CB, et al. (2001) Long-term survival after mitral valve replacement in children aged <5 years: A multi-institutional study. Circulation 104(Suppl I):I143–I147
Cataneo SM, Bethea BT, Alejo DE, et al. (2004) Surgery for aortic root aneurysms in children: a 21-year experience in 50 patients. Ann Thorac Surg 77:168–176
Dunn JM (1981) Porcine valve durability in children. Ann Thorac Surg 32:357–368
Geva T, Sanders SP, Diogenes MS, Rockenmacher S, van Praagh R (1990) Two-dimensional and Doppler echocardiographic and pathologic characteristics of the infantile Marfan syndrome. Am J Cardiol 65:1230–1237
Gott VL, Cameron D, Alejo DE, et al. (1999) Replacement of the aortic root in patients with Marfan’s syndrome. N Engl J Med 340:1307–1313
Gray JR, Bridges AB, Faed MJW, et al. (1994) Ascertainment and severity of Marfan syndrome in a Scottish population. J Med Genet 31:51–54
Heide HT, Schrander-Stumpel C, Pals G, Delhaas T (2005) Neonatal Marfan syndrome: clinical report and review of the literature. Clin Dysmorph 14:81–84
Kamikubo Y, Murashita T, Yasuda K, Matano J, Sakai K (2000) Mitral valve replacement and subsequent composite graft replacement of the aortic root for infantile Marfan syndrome. Jpn J Thorac Surg 48:366–369
Kodolitsch Y, Raghunath M, Nienaber CA (1988) Das Marfan Syndrom: Prävalenz und natürlicher Verlauf der kardiovaskulären Manifestation. Z Kardiol 87:150–160
Kraseman T, Kotthoff S, Kehl HG, et al. (2005) Cardiac transplantation in neonatal Marfan syndrome—a life-saving approach. Thorac Cardiovasc Surg 53(Suppl 2):146–148
Pasque M, Williams WG, Coles JG, et al. (1987) Tricuspid valve replacement in children. Ann Thorac Surg 44:164–168
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Strigl, S., Quagebeur, J. & Gersony, W. Quadrivalvar Replacement in Infantile Marfan Syndrome. Pediatr Cardiol 28, 403–405 (2007). https://doi.org/10.1007/s00246-006-0066-4
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DOI: https://doi.org/10.1007/s00246-006-0066-4