ABSTRACT
This report describes two new cases of BWS. This diagnosis of BWS may be missed because of variable or incomplete clinical expression. Recognition of such patients is important, however, because they have the potential for development of neoplasias. There also appears to be an increased risk of malignancies associated with hemihypertrophy and BWS.
Subject(s)
Beckwith-Wiedemann Syndrome/diagnosis , Beckwith-Wiedemann Syndrome/diagnostic imaging , Echocardiography , Female , Humans , InfantABSTRACT
We report a case of cardiofacial syndrome that seems to be genetically transmitted as an autosomal dominant trait. It is characterized by hypoplasia of depressor anguli oris muscle and perimembranous ventricular septal defect. We emphasize the importance of performing diagnostic tests in these patients (cardiac assessment, spinal x-ray, renal echo) in order to rule out associated malformations.
Subject(s)
Crying , Facial Asymmetry/diagnosis , Facial Expression , Facial Muscles/abnormalities , Facial Asymmetry/genetics , Female , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/genetics , Humans , Infant , SyndromeABSTRACT
Subpulmonic stenosis in complete d-transposition of the great arteries (d-TGA) is a frequently associated malformation, the precise diagnosis of which is essential for optimal medical and surgical treatment. Sixteen patients with d-TGA and subpulmonic stenosis have been studied by M-mode and two-dimensional (2DE) echocardiography and cardiac catheterization. Dynamic obstruction was found in six patients and fixed stenosis in 10. Systolic anterior motion of the mitral valve without fixed obstruction of the left ventricular outflow tract (LVOT) was present in patients with dynamic stenosis. Measurements of left ventricular end-diastolic posterior wall thickness to minor semiaxis ratio correlated well (p less than 0.001) with the pressure gradient across the LVOT. Various types of anatomic fixed obstruction are described. M-mode echocardiography provides assessment of dynamic obstruction but does not allow quantitative evaluation of the length of the narrowed segment. The latter can be achieved by 2DE, which offers improved definition of different anatomic types.
Subject(s)
Cardiomyopathy, Hypertrophic/pathology , Echocardiography , Heart Ventricles/pathology , Pulmonary Subvalvular Stenosis/pathology , Transposition of Great Vessels/pathology , Adolescent , Adult , Blood Pressure , Cardiac Catheterization , Child , Child, Preschool , Constriction, Pathologic , Female , Heart Ventricles/physiopathology , Humans , Infant , Male , Pulmonary Subvalvular Stenosis/physiopathology , Pulmonary Wedge Pressure , Transposition of Great Vessels/physiopathologyABSTRACT
Twenty-five patients with tricuspid atresia, ranging in age between 3 months and 23 years, were studied by M-mode and two-dimensional (2D) echocardiography. In all of them diagnosis was confirmed by cardiac catheterization and angiocardiography and in most of them at surgery or autopsy. Some anatomical specimens of tricuspid atresia were analyzed in order to be correlated with corresponding two-dimensional pictures. Contrast 2D echocardiography was performed in 12 of 25 patients. M-mode scanning right atrium-left ventricle showed a rudimentary echo coming from the atretic valve but didn't show its relations with the membranous portion of ventricular septum. 2D echocardiography in (two chambers) or (four chambers) view was particularly useful to distinguish tricuspid atresia from other hypoplastic right heart syndromes with functioning tricuspid valve. Peripheral contrast injection enhances diagnostic capability of 2D echocardiography, especially for the assessment of right ventricular dimensions, differentiation between atretic and imperforate valve and evaluation of ventricular septal defect.
Subject(s)
Echocardiography , Tricuspid Valve/abnormalities , Adolescent , Adult , Autopsy , Cardiac Catheterization , Child , Humans , InfantABSTRACT
Twenty-five patients with tricuspid atresia, ranging in age between 2 months and 23 years, previously morphologically studied, were assessed by M-mode echocardiography with regard to left ventricular function. Fifteen of them underwent palliative cardiac surgery (systemic-pulmonary anastomosis). Thirty normal subjects, same age and sex, were selected as controls. Patients with tricuspid atresia had a significant increase of left ventricular dimensions and mass and significant decrease of shortening fraction and ejection fraction. The left ventricular pre-ejection/ejection ratio (LPEP/LVET) was significantly higher in patients with tricuspid atresia compared to normals. In patients without surgical shunt there was no significant correlation between Qp/Qs determined by oximetry and the end-diastolic dimension and left ventricular function parameters. In patients with surgical shunt a significant correlation was found between ejection fraction, shortening fraction, systolic time intervals and Qp/Qs. Qp/Qs significantly correlated with end-diastolic dimension. Shortening fraction and ejection fraction were higher in patients with satisfactory systemic saturation, while left ventricular mass was increased in patients with longstanding surgical shunt. These data suggest that patients with tricuspid atresia, with or without surgical shunt, may present with a decreased left ventricular function, early detectable by echocardiography.
