ABSTRACT
The clinical, cardiac, and echocardiographic test results of 20 children with marfanoid features are reviewed. Fifteen were diagnosed as having Marfan syndrome, two had "possible" Marfan syndrome, and three had other diagnoses. On first evaluation, eight patients with Marfan syndrome (53%) had mitral regurgitation and none had aortic regurgitation. Echocardiography showed aortic root enlargement in 12 (80%) of 15 patients and mitral valve prolapse in 12 (80%) of 15. None had a normal echocardiogram. At follow-up examination, one patient had developed aortic root enlargement, and one patient, mitral valve prolapse. Thus, although aortic root enlargement is usually present in early childhood in patients with Marfan syndrome, it is not considered specific because in this study it also occurred in one child with Alport's syndrome and in one with marfanoid features. Four patients with aortic root enlargement were treated with propranolol and their echocardiograms showed no further increase in the aortic root diameter for several years. We recommend echocardiography in the diagnosis and routine management of children in whom Marfan syndrome is suspected.
Subject(s)
Marfan Syndrome , Aortic Diseases/complications , Aortic Valve Insufficiency/complications , Echocardiography , Female , Humans , Male , Marfan Syndrome/classification , Marfan Syndrome/diagnosis , Marfan Syndrome/genetics , Mitral Valve Insufficiency/complications , Mitral Valve Prolapse/complications , Retrospective StudiesABSTRACT
Here we report on a boy who died at 16 1/2 months with hemihypertrophy, eye abnormalities, macrodactyly, hamartomas, pigmented nevi, cerebral involvement, and other anomalies compatible with the Proteus syndrome. In addition, he also had abnormalities previously unreported in the Proteus syndrome including craniosynostosis and complex congenital heart defects. He seems to represent an extremely severe form of the Proteus syndrome and expands the already broad range of the phenotype.
Subject(s)
Abnormalities, Multiple/pathology , Autopsy , Craniofacial Dysostosis/complications , Craniofacial Dysostosis/pathology , Humans , Infant, Newborn , Male , Phenotype , SyndromeABSTRACT
We report on a patient with various connective tissue abnormalities suggesting a distinctive disorder combining some features of the Marfan syndrome with craniosynostosis and other anomalies. A comparison is made with the Marfan syndrome and other phenotypically similar conditions.
Subject(s)
Craniosynostoses/complications , Marfan Syndrome/complications , Adolescent , Aortic Rupture/complications , Humans , Male , Marfan Syndrome/pathologyABSTRACT
Echocardiographic estimates of left atrial pressure using the Q-MVC/AVC-E ratio were obtained from 21 patients in the early postoperative period and compared to simultaneously recorded mean left atrial pressure. A good correlation was obtained between mean left atrial pressure and the Q-MVC/AVC-E ratio (r = 0.81, p less than 0.001) with a regression equation of: left atrial pressure = 11.09 (Q-MVC/AVC-E) + 0.84. The present data compared to those of previous investigators reveal that, although there are quantitative differences between each of the studies, the correlation coefficient of each study is good. Echocardiography provides a useful noninvasive estimate the left atrial pressure; however, each laboratory must establish its own normals.
Subject(s)
Blood Pressure , Echocardiography , Heart Defects, Congenital/surgery , Myocardial Contraction , Child , Child, Preschool , Heart Atria , Humans , Infant , Postoperative Period , Pulmonary Circulation , Pulmonary Wedge Pressure , Regression Analysis , Vascular ResistanceABSTRACT
The postoperative anatomy of the Senning interatrial diversion was defined by two-dimensional contrast echocardiography in ten patients. A modified apical four-chamber view proved most valuable, allowing for simultaneous visualization of both the systemic venous atrium and the pulmonary venous atrium. The anatomy was confirmed with two-dimensional contrast echocardiography utilizing catheters placed in the systemic venous atrium and pulmonary venous atrium at the time of surgery. In addition, in several of the patients, we were able to detect atrial or ventricular level shunts which were not clinically apparent. One patient who was judged to have a significant shunt by two-dimensional contrast echocardiography had no anatomic site found at autopsy to explain the shunting. We conclude that two-dimensional contrast echocardiography can define the postoperative anatomy following Senning repair allowing for immediate and future evaluation. Shunting at the atrial and ventricular levels can also be detected, but the method is very sensitive and difficult to quantitate or correlate clinically.