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Concordance of congenital heart defects in two pairs of monozygotic twins: pulmonary stenosis and tetralogy of Fallot. Corresponding author: Carlos Alva. Phone: E mail: echoca yahoo. Received: December 12, 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 in congenital cardiac lesions reported in Mexico. Key words: 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 in , 1 it has been recognized that monozygotic twins provide an opportunity to study 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 a 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 June , the 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. In addition, U. 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 was 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 to 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, He recovered uneventfully.

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. There are very few reports on 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 development. Price B. Primary biases in twins studies. Burn J. The aetiology of congenital heart disease. Curchill Livingstone , p Stark AR Twins. Manual of Neonatal Care Hall JG. Developmental biology IV.

Monozigotic twins with chromosome 22q11 microdeletion and discordant phenotypes in cardiovascular pattering. Tetralogy of Fallot in monozygotic twins.

Persistent truncus arteriosus in monozygotic twins: Case report and literature review. Ventricular septal defect associated with pulmonary hypertension in monozygotic twins a case report with surgical repair. Servicios Personalizados Revista. Similares en SciELO. Abstract Two pairs of twins with specific concordance in congenital heart lesions are presented. Introduction Since Price's report in , 1 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. References 1.



See pulmonary valve stenosis for a general discussion about this valvulopathy. Can be morphologically categorized depending on the relationship to the pulmonary valve 3 :. Supravalvular stenoses have been traditionally classified into four types. Findings on chest radiographs are not specific. Can have a normal heart size or may show evidence of right ventricular hypertrophy. May also show evidence of a dilated pulmonary trunk or a main pulmonary artery.



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