Estenose pulmonar é uma obstrução anatômica (estenose) do fluxo sanguíneo do ventrículo direito do coração para a artéria pulmonar. Pode ser dinâmica. El primer par, dos gemelas monocigóticas de 13 años de edad, en ambas se encontró severa estenosis infundibular y valvular pulmonar. En el segundo par. Fístula Sistémico-Pulmonar de Blalock-Taussig Modificada. Circulación pulmonar infundibular, acompañada o no de estenosis valvular o de ramas y/o.
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Concordance of congenital heart defects in two pairs of monozygotic twins: Accepted September 23, Se encontraron dos pares de gemelos. Two pairs of twins with specific concordance in congenital heart lesions are presented.
We reviewed all the monozygotic twins with specific concordance in congenital heart lesions in the last 18 years. Two pairs were found. In fluorescence hybridization test in situ all patients were negative for microdeletion in chromosome 22q Anatomic differences between twins are not enough explained on genetic bases; it’s necessary to consider the role of other factors, probably acquired during the first stages of embryonic development. These are the two first pairs of twins with specific concordance wstenosis congenital cardiac lesions reported in Mexico.
Congenital heart disease in twins; Congenital lesions in twins; Specific concordance in twins; Monozygotic twins; Valvar pulmonary stenosis; Tetralogy of Fallot. Since Price’s report in1 it has been recognized that monozygotic twins provide an opportunity to infundibulag genetic contribution in the development of cardiovascular malformations.
Monozygotic twins with pulmonary stenosis. They were completely asymptomatic and their phenotypes were very similar Figure 1A. Echocardiographic examination showed esttenosis severe infundibular and pulmonary valve stenosis in both of them.
Systolic gradient measured by Doppler was mmHg in U. During cardiac catheterization, U. Echocardiogram and selective angiogram showed severe dysplastic pulmonary valve in the right ventricle of both twins. In Junethe two patients underwent cardiac surgical correction with transannular patch under cardiopulmonary bypass. During surgery, severe pulmonary valve stenosis with hypoplastic annulus was found in both of them. The patients recovered uneventfully from operation. Today, six years after the procedure, both patients are asymptomatic with normal development and a control echocardiogram revealed a residual gradient below 20 mmHg and minimal pulmonary insufficiency.
Monozygotic twins with Tetralogy of Fallot. In both twins, Tetralogy of Fallot was diagnosed by echocardiogram, cardiac catheterization and angiocardiogram. Echocardiogram demonstrated Tetralogy of Fallot with an obstructive 60 mmHg gradient in the right ventricular outflow tract. Cardiac catheterization confirmed the echocardiogram diagnosis and an additional stenosis estenois found at the origin of the left pulmonary artery Figure 2a.
The McGoon index was 1. In February surgical correction was performed with transannular patch, pulmonary valve prosthesis, and patches in left main coronary and pulmonary arteries; the ventricular septal defect was closed too.
During surgery a laceration of the pulmonary artery with important bleeding occurred as a complication. In the intensive care unit, the patient developed pneumonia due to Sthaphylocococus aureus, with bad and long evolution. It was not possible infundibulxr disconnect the patient from ventilator. Fifteen days later, this twin died because of septic shock. In the second twin no previous shunt was done. Echocardiography and angiocardiography showed favorable anatomy Figure 2B. The McGoon index was 2.
Total surgical correction was performed in January 28, Three months later, an echocardiogram revealed a maximum gradient of 22 mmHg and the patient presented no symptoms. However, in previous literature usually it is not specified whether concordance refers to either the presence of the same cardiac defect in both twins, or to some cardiac malformation present in the two.
We will refer to specific concordance in the former concept.
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There are very few reports pulmonae specific concordance of congenital cardiac malformations. In one of the reports, both twins had pulmonary atresia and the same intracardiac defects, with anatomic differences in large vessels.
Both patients were positive for microdeletion in chromosome 22q There are two other reports of specific concordance. In the first, the presence of persistent truncus arteriosus in both monozygotic twins, without DiGeorge phenotype syndrome and no deletion in chromosome 22q11 is described.
Just like in the previous reports, both twins had the same disorder, with minor differences, particularly in the severity of the lesion.
In agreement with other authors, these differences could be explained by the influence of other factors probably acquired during the first stages of embryonic pulmonsr. Primary biases in twins studies.
Am J Human Estenosls ,2: The aetiology of congenital heart disease. Curchill Livingstonep Manual of Neonatal Care Monozigotic twins with chromosome 22q11 microdeletion and discordant phenotypes in cardiovascular pattering. Tetralogy of Fallot in monozygotic twins. Indian Heart J ; Persistent truncus arteriosus in monozygotic twins: Case report and literature review.
Aneurisma del seno de Valsalva y estenosis pulmonar infundibular
Am J Med Genet ; Ventricular septal defect associated with pulmonary hypertension in monozygotic twins a case report with surgical repair.
Jpn J Thorac Cardiovasc Surg ; Abstract Two pairs of twins with specific concordance in congenital heart lesions are presented. Introduction Since Price’s report in1 it has been recognized that monozygotic twins provide an opportunity to study genetic contribution in the development of cardiovascular malformations. Case report 1 Monozygotic twins with pulmonary stenosis U.
Case report 2 Monozygotic twins with Tetralogy of Fallot J.