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Gonadal dysgenesis and hypoplastic left heart syndrome
June, 1970 The Journal o[ P E D I A T R I C S
979
Letters to the Editor Gonadal dysgenesis and bypoplastic left bean syndrome To the Editor: In a recent review of the world literature on the cardiovascular malformations in Turner's syndrome, Vernant and associates 1 listed the following congenital anomalies: coarctation of the aorta with and without ventricular septal defect, aortic stenosis, aortic stenosis with dextrocardia, aortic atresia, aortic insufficiency, aberrant subclavian artery, atrial septal defect, patent ductus arteriosus, transposition of the great vessels, dextrorotation, and dextroeardia. The authors added to the list the association of lesions not previously reported in Turner's syndrome: aortic stenosis with peripheral pulmonic stenosis, and atrial septal defect with anomalous pulmonary venous drainage. We recently had the opportunity to study a 2-day-old Negro girl with still another association of lesions: gonadal dysgenesis and hypoplastic left heart syndrome. This baby girl was hospitalized at the University Hospital of Lovanium because of congestive heart failure. Physical examination revealed a slightly cyanotic, grayish-looking, acutely sick infant with respiratory distress, tachycardia, and significant hepatomegaly. A heart murmur was not heard. There was bilateral webbing of the neck; edema of the extremities was not present. A roentgenogram of the chest revealed an egg-shaped heart, greatly enlarged, with increased pulmonary vascular markings. An electrocardiogram was essentially normal, with right axis deviation, about 105 degrees, and voltages showing right ventricular dominance, normal for age. The child was digitalized and given diuretics; she died some hours later. A postmortem examination revealed the following abnormal features: (1) Bilateral webbing of the neck. (2) Replacement of ovaries by fibrous streaks, vaguely resembling ovarian stroma, without follicles or ova. (3) Extensive bilateral bronchopneumonia with pulmonary aspiration of amniotic fluid debris. (4) Hypoplastic left heart with mitral and aortic atresia. The left atrium was small and communicated through a small atrial septal defect with an enlarged right atrium. The right ventricle was
markedly hypertrophied. The left ventricle was not identified. The pulmonary trunk was large and continued into the descending aorta through a large patent ductus arteriosus. The ascending aorta was hypoplastic, terminating blindly at the level of the aortic valve. Two small coronary ostitia were present. The association of hypoplastic left heart syndrome, with both mitral and aortic atresia in a patient with gonadal dysgenesis, seems not to have been reported before.
John P. Lintermans, M.D. Cliniques Universitaires Universit~ Lovanium B.P. 123 Kinshasa XI, Republic o[ Congo REFERENCE
1. Vernant, P., Corone, P., de Grouchy, J., de Gennes, J. L., and Emerit, I.: Le coeur dans le syndrome de Turner-Ullrich, Arch. Mal. Coeur 59: 850, 1966.
Renal disease To the Editor: I would like to comment about the book review of Renal disease in childhood--John A. James by Alan B. Gruskin, M.D., in the September JO~R/'CAL (75: 520, 1969). We have been interested for years in the indications for urological evaluation in children, a subject of considerable concern because of the difficulty and the importance of making an early diagnosis of an abnormality of the excretory tract. In the section "Symptoms and signs of renal disease," Dr. James speaks in some detail about abdominal pain and comes to the conclusion "if abdominal pain is transient and centrally located, and the urine analysis is normal, we usually do not recommend further study of the urinary tract." I am afraid that if this dictum is followed some children will walk aronnd with developmental anomalies of the urinary tract that have not been detected. There is no definite pattern for abdominal pain associated with these abnormalities. The pain may be localized anywhere in the abdomen but it has been most in-
Vol. 76, No. 6, pp. 979-983
979
Letters to the Editor Gonadal dysgenesis and bypoplastic left bean syndrome To the Editor: In a recent review of the world literature on the cardiovascular malformations in Turner's syndrome, Vernant and associates 1 listed the following congenital anomalies: coarctation of the aorta with and without ventricular septal defect, aortic stenosis, aortic stenosis with dextrocardia, aortic atresia, aortic insufficiency, aberrant subclavian artery, atrial septal defect, patent ductus arteriosus, transposition of the great vessels, dextrorotation, and dextroeardia. The authors added to the list the association of lesions not previously reported in Turner's syndrome: aortic stenosis with peripheral pulmonic stenosis, and atrial septal defect with anomalous pulmonary venous drainage. We recently had the opportunity to study a 2-day-old Negro girl with still another association of lesions: gonadal dysgenesis and hypoplastic left heart syndrome. This baby girl was hospitalized at the University Hospital of Lovanium because of congestive heart failure. Physical examination revealed a slightly cyanotic, grayish-looking, acutely sick infant with respiratory distress, tachycardia, and significant hepatomegaly. A heart murmur was not heard. There was bilateral webbing of the neck; edema of the extremities was not present. A roentgenogram of the chest revealed an egg-shaped heart, greatly enlarged, with increased pulmonary vascular markings. An electrocardiogram was essentially normal, with right axis deviation, about 105 degrees, and voltages showing right ventricular dominance, normal for age. The child was digitalized and given diuretics; she died some hours later. A postmortem examination revealed the following abnormal features: (1) Bilateral webbing of the neck. (2) Replacement of ovaries by fibrous streaks, vaguely resembling ovarian stroma, without follicles or ova. (3) Extensive bilateral bronchopneumonia with pulmonary aspiration of amniotic fluid debris. (4) Hypoplastic left heart with mitral and aortic atresia. The left atrium was small and communicated through a small atrial septal defect with an enlarged right atrium. The right ventricle was
markedly hypertrophied. The left ventricle was not identified. The pulmonary trunk was large and continued into the descending aorta through a large patent ductus arteriosus. The ascending aorta was hypoplastic, terminating blindly at the level of the aortic valve. Two small coronary ostitia were present. The association of hypoplastic left heart syndrome, with both mitral and aortic atresia in a patient with gonadal dysgenesis, seems not to have been reported before.
John P. Lintermans, M.D. Cliniques Universitaires Universit~ Lovanium B.P. 123 Kinshasa XI, Republic o[ Congo REFERENCE
1. Vernant, P., Corone, P., de Grouchy, J., de Gennes, J. L., and Emerit, I.: Le coeur dans le syndrome de Turner-Ullrich, Arch. Mal. Coeur 59: 850, 1966.
Renal disease To the Editor: I would like to comment about the book review of Renal disease in childhood--John A. James by Alan B. Gruskin, M.D., in the September JO~R/'CAL (75: 520, 1969). We have been interested for years in the indications for urological evaluation in children, a subject of considerable concern because of the difficulty and the importance of making an early diagnosis of an abnormality of the excretory tract. In the section "Symptoms and signs of renal disease," Dr. James speaks in some detail about abdominal pain and comes to the conclusion "if abdominal pain is transient and centrally located, and the urine analysis is normal, we usually do not recommend further study of the urinary tract." I am afraid that if this dictum is followed some children will walk aronnd with developmental anomalies of the urinary tract that have not been detected. There is no definite pattern for abdominal pain associated with these abnormalities. The pain may be localized anywhere in the abdomen but it has been most in-
Vol. 76, No. 6, pp. 979-983