Identification of Copy Number Variations in Isolated Tetralogy of Fallot.

Tetralogy of Fallot (ToF) is one of the most common and severe congenital heart defects (CHD). Recently, unbalanced structural genomic variants or copy number variations (CNVs) were proposed to be involved in the etiology of many complex diseases, including CHDs. The aim of this study was to investigate the frequency of CNVs in a region with a high density of CNVs, 22q11.2, and other regions with CHD-related genes in a sample of 52 Mexican mestizo patients with isolated ToF and negative fluorescence in situ hybridization staining for 22q11. CNVs were studied using two multiplex ligation-dependent probe amplification (MLPA) kits, SALSA P250-B1® (DiGeorge gene region) and SALSA MLPA P311-A1® CHD-related gene regions (GATA4, NKX2-5, TBX5, BMP4, and CRELD1). The MLPA assay detected a de novo CNV deletion of the probes located in exons 2 and 7 of the TBX1 gene in one of the 52 patients studied; this result was confirmed by real-time quantitative polymerase chain reaction. This deletion was not present in the patient's parents and 104 chromosomes from healthy control subjects. Our results clearly suggest a possible etiologic association between the TBX1 deletion and the ToF in our patient.

Chagas disease as a cause of symptomatic chronic myocardopathy in Mexican children.

We report the first case series of children in Mexico living with symptomatic Chagas disease causing chronic myocardopathy. The findings suggest that children with Chagas disease may develop symptomatic chronic myocardopathy earlier than previously recognized. Our findings emphasize the importance of longitudinal cardiologic follow-up of all children identified with acute Chagas disease.In a cohort of 826 children from the state of Queretaro in Mexico, 11 were identified with positive serology (ELISA and IFI) for Chagas and were tested for electrocardiogram alterations and symptoms and signs. Four children had ECG alterations with 3 of these reporting signs and symptoms associated with the chronic phase of Chagas disease (27%; 95% CI: 6%-61%). The most common chronic symptom was chest pain, with one child also reporting dyspnea and tachycardia.

Sindrome de ventrículo izquierdo hipoplásico: reporte de una enferma en edad adulta / Hypoplastic left ventricle syndrome: report of a case in an adult woman

Patients with hypoplastic left heart syndrome without surgery dye during the first year of life. In the literature there is only one report from our institution of a patient who survived to the second decade of life without surgery. The purpose of this work is to describe a case of a 24 years old female with hypoplastic left heart syndrome, who has survived until now in functional class I of New York Heart Association without surgery. In our patient, the survival is probably related with the presence of a ductus arteriosus, an interatrial septal defect and the secondary pulmonary arterial hypertension.

[Hypoplastic left ventricle syndrome. Report of a case in an adult woman]. / Sindrome de ventrículo izquierdo hipoplásico. Reporte de una enferma en edad adulta.

Patients with hypoplastic left heart syndrome without surgery dye during the first year of life. In the literature there is only one report from our institution of a patient who survived to the second decade of life without surgery. The purpose of this work is to describe a case of a 24 years old female with hypoplastic left heart syndrome, who has survived until now in functional class I of New York Heart Association without surgery. In our patient, the survival is probably related with the presence of a ductus arteriosus, an interatrial septal defect and the secondary pulmonary arterial hypertension.

[Clinical and echocardiographic characteristics of scimitar syndrome]. / Aspectos clínicos y ecocardiográficos del síndrome de la cimitarra.

Seven patients with scimitar syndrome underwent retrospective clinical and echocardiographic examination. The findings were: respiratory infection with dyspnea on moderate exercise in 90%, scimitar sign in four (57%), dextrocardia in five (71%), and interatrial septal defect in five (71%), one of whom had patent ductus arteriosus. Overall, two patients had patent ductus arteriosus: one also had aortic coarctation and the other, a bicuspid aortic valve. Dilation of the right cavities was found in five (71%) and blunt edge in five (71%). In two patients, anomalous drainage was into the right atrium; in another two, into the inferior vena cava; and in three, towards the junction of the right atrium and the inferior vena cava. In three patients, drainage was obstructed. Six patients with cardiac abnormalities proceeded to surgery. Scimitar syndrome is a rare entity. In the large majority of patients (86%), diagnosis and follow-up can be performed echocardiographically.

Aspectos clínicos y ecocardiográficos del síndrome de la cimitarra / Clinical and echocardiographic characteristics of scimitar syndrome

Se realizó un estudio retrospectivo de 7 pacientes adultos con síndrome de la cimitarra mediante examen clínico y ecocardiográfico. Los resultados fueron: infección respiratoria y disnea de medianos esfuerzos en el 90%, signo de la cimitarra en 4 (57%), dextrocardia en 5 (71%), comunicación interauricular en 5 (71%), uno de ellos con persistencia de conducto arterioso; 2 con persistencia de conducto arterioso, 1 de ellos con coartación de aorta y otro con aorta bivalva; dilatación de cavidades derechas en 5 (71%) y borde romo en 5 (71%). En 2 pacientes, el colector drenó la aurícula derecha, en 2 la vena cava inferior y en 3 la unión de la aurícula con la vena cava inferior; 3 tuvieron obstrucción del colector. Seis pacientes fueron intervenidos quirúrgicamente. El síndrome de la cimitarra es raro; su diagnóstico y su seguimiento se puede realizar mediante ecocardiografía en un alto porcentaje de casos (86%)

Seven patients with scimitar syndrome underwent retrospective clinical and echocardiographic examination. The findings were: respiratory infection with dyspnea on moderate exercise in 90%, scimitar sign in four (57%), dextrocardia in five (71%), and interatrial septal defect in five (71%), one of whom had patent ductus arteriosus. Overall, two patients had patent ductus arteriosus: one also had aortic coarctation and the other, a bicuspid aortic valve. Dilation of the right cavities was found in five (71%) and blunt edge in five (71%). In two patients, anomalous drainage was into the right atrium; in another two, into the inferior vena cava; and in three, towards the junction of the right atrium and the inferior vena cava. In three patients, drainage was obstructed. Six patients with cardiac abnormalities proceeded to surgery. Scimitar syndrome is a rare entity. In the large majority of patients (86%), diagnosis and follow-up can be performed echocardiographically

Dextroisomerismo atrial en adultos: Estudio clínico-ecocardiográfico / Right atrial isomerism in adults: Clinical and echocardiographic study

La esencia del dextroisomerismo en el corazón es la presencia bilateral de atrios con orejuelas de morfología derecha. Generalmente forma parte de un grupo de cardiopatías congénitas complejas. El objetivo de nuestro estudio es hacer una descripción de los hallazgos clínicos y ecocardiográficos en los pacientes con dextroisomerismo atrial que han sobrevivido a la vida adulta. Se estudiaron 11 pacientes adultos con cardiopatías congénitas complejas y dextroisomerismo. A todos los pacientes se les realizó historia clínica completa, ecocardiografía transtorácica y transesofágica. La clase funcional según New York Heart Association al inicio del estudio fue: I en un paciente, II en 5 y III en 5. Los estudios de laboratorio mostraron poliglobulia importante. En tres casos se encontraron cuerpos de Howell Jolly El electrocardiograma de superficie mostró marcapaso migratorio en el 54.5%. Seis (54.5%) pacientes estuvieron en dextrocardia y 5 (45.5%) en levocardia. Seis pacientes (54.5%) tuvieron defectos de la tabicación atrioventricular, 4 con doble entrada (36.4%) y uno con ausencia de conexión auriculoventricular derecha (9.1%). La conexión ventriculoarterial más frecuente fue la doble salida en 8 (72.76%). Seis casos tuvieron estenosis pulmonary uno atresia pulmonar. El retorno venoso pulmonar fue al lado izquierdo del atrio común en tres casos (27.2%), al lado derecho del atrio común en cuatro (36.4%), al techo del atrio común a través de un colector en 3 casos (27.4%) y vía vena vertical en uno (9.0%). Ninguno de ellos presentó obstrucción. Se encontró insuficiencia de la válvula atrioventricular en 7 casos (63.6%). Tres pacientes (27.3%) fueron llevados a cirugía para colocación de fístula. Su clase funcional mejoró. Se trata de una serie de casos en pacientes adultos con dextroisomerismo atrial y cardiopatías congénitas complejas que a pesar de ello llegaron a la vida adulta. La valoración clínica y ecocardiográfica nos permiten en la actualidad establecer el diagnóstico, tomar decisiones terapéuticas y hacer el seguimiento. Aún falta por determinar qué diferencias tendrán con el resto de la población cuando se presenten los padecimientos crónicos degenerativos.

The most important feature of right atrial isomerism in the heart is the presence of both atria with morphologically right atrial appendages. The main aim of this study was to do a description of clinical and echocardiographic findings in adult patients with right atrial isomerism. A total of eleven consecutive patients were identified with a diagnosis of right atrial isomerism and complex congenital heart disease. A complete clinical history and transthoracic and/or transesophageal echocardiography were performed in all patients. Also a cardiac catheterization was realized in seven patients. The functional class according the New York Heart Association was I in one patient, II in 5 and III in 5. The laboratory studies showed severe polyglobulia. In 3 cases Howell-Jolly bodies were present. The electrocardiogram showed migratory pacemaker in the 54.5% of cases. The cardiac position was dextrocardia in six patients (54.5%) and levocardia in five (45.5%). Six patients (54.5%) had complete atrioventricular septal defects, 4 (36.4%) double inlet and one absence of a right atrioventricular connection (9.1%). The most frequent ventriculoarterial connection was double-inlet in 8 (72.76%) patients. In 4 cases hypopla-sia of the pulmonary artery was found. Six patients had severe pulmonary stenosis and one pulmonary atresia. The pulmonary venous drainage was into the left-sided atrium in 3 cases (27.2%), into the right-sided atrium in 4 (36.4%), into the midline of the atrium through a collector in 3 cases (27.4%) and by vertical vein in one (9.0%). Insufficiency of the atrioventricular valve was found in 7 cases (63.6%). Three patients (27.3%) went to surgery for implantation of a fistula. It is a series of adult patients with right atrial isomerism and complex congenital heart disease that survived to adult live. The clinical and echocardiographic assessment actually allows establishing the correct diagnosis, to take therapeutic decisions and to do the follow-up in all patients. Till now we could not yet determine the differences of these patients in relation to the general population when they develop chronic degenerative disease.

[Anatomo-echocardiographic correlation of scimitar syndrome in adults]. / Correlación anatomo-ecocardiográfica del síndrome de cimitarra en el adulto y comentario embriológico.

It is a retrospective study of 7 patients with clinical and echocardiographic assessment, the last was correlated with morphologic features of one equivalent anatomic specimen. The results are: respiratory infections and dyspnea in 90% of cases, scimitar sign in four (57%), interatrial septal defect in five (71%), one of them with patent ductus arteriosus, two (28.6%) only with patent ductus arteriosus. Dextrocardia was found in 5 (71%), dilation of the right cavities in 5 (71%) and blunt edge in 6 (85.7%). In two the colector drained into the right atrium, in one to the junction of the right atrium and inferior vena cava and in the other three into the inferior vena cava through the colector. Six patients with cardiac abnormalities went to surgery. The correlation shows agreement between the echocardiographic image and the anatomic specimen. Scimitar syndrome is a rare entity, which diagnosis and follow up can be performed by echocardiography in a great percentage (86%). The embryologic basis of this syndrome is enhanced.

Correlación anatomo-ecocardiográfica del síndrome de cimitarra en el adulto y comentario embriológico / Anatomo-echocardiographic correlation of Scimitar Syndrome in adults

Estudio retrospectivo de 7 pacientes adultos con síndrome de cimitarra mediante examen clínico y ecocardiográfico, este último se correlacionó con un espécimen anatómico equivalente. Los resultados fueron: Infección respiratoria y disnea de medianos esfuerzos en el 90%, signo de Cimitarra en 4 (57%), comunicación interatrial en 5 (71 %), uno de ellos con persistencia de conducto arterioso; dos (28.6%) sólo con persistencia de conducto arterioso, dextrocardia en 5 (71%), dilatación de cavidades derechas en 5 (71%) y borde romo en 6 (85.7%). En 2 el colector drenó a la porción baja de la aurícula derecha, en tres a la unión del atrio derecho con la vena cava inferior y en 2 a la vena cava inferior a través de un colector. Seis fueron a cirugía. La correlación mostró concordancia entre la imagen ecocardiográfica y el espécimen anatómico. El síndrome de la Cimitarra es raro, su diagnóstico y seguimiento se puede realizar mediante ecocardiografía en un alto porcentaje (86%). Se resalta la base embriológica de este síndrome.

It is a retrospective study of 7 patients with clinical and echocardiographic assessment, the last was correlated with morphologic features of one equivalent anatomic specimen. The results are: respiratory infections and dyspnea in 90% of cases, scimitar sign in four (57%), interatrial septal defect in five (71%), one of them with patent ductus arteriosus, two (28.6%) only with patent ductus arteriosus. Dextrocardia was found in 5 (71 %), dilation of the right cavities in 5 (71%) and blunt edge in 6 (85.7%). In two the colector drained into the right atrium, in one to the junction of the right atrium and inferiorvena cava and in the other three into the inferior vena cava through the colector. Six patients with cardiac abnormalities went to surgery. The correlation shows agreement between the echocardiographic image and the anatomic specimen. Scimitar syndrome is a rare entity, which diagnosis and follow up can be performed by echocardiography in a great percentage (86%). The embryologic basis of this syndrome is enhanced. (Arch Cardiol Mex 2005; 75: 165-169).

[Right atrial isomerism in adults. Clinical and echocardiographic study]. / Dextroisomerismo atrial en adultos. Estudio clínico-ecocardiográfico.

The most important feature of right atrial isomerism in the heart is the presence of both atria with morphologically right atrial appendages. The main aim of this study was to do a description of clinical and echocardiographic findings in adult patients with right atrial isomerism. A total of eleven consecutive patients were identified with a diagnosis of right atrial isomerism and complex congenital heart disease. A complete clinical history and transthoracic and/or transesophageal echocardiography were performed in all patients. Also a cardiac catheterization was realized in seven patients. The functional class according the New York Heart Association was I in one patient, II in 5 and III in 5. The laboratory studies showed severe polyglobulia. In 3 cases Howell-Jolly bodies were present. The electrocardiogram showed migratory pacemaker in the 54.5% of cases. The cardiac position was dextrocardia in six patients (54.5%) and levocardia in five (45.5%). Six patients (54.5%) had complete atrioventricular septal defects, 4 (36.4%) double inlet and one absence of a right atrioventricular connection (9.1%). The most frequent ventriculoarterial connection was double-inlet in 8 (72.76%) patients. In 4 cases hypoplasia of the pulmonary artery was found. Six patients had severe pulmonary stenosis and one pulmonary atresia. The pulmonary venous drainage was into the left-sided atrium in 3 cases (27.2%), into the right-sided atrium in 4 (36.4%), into the midline of the atrium through a collector in 3 cases (27.4%) and by vertical vein in one (9.0%). Insufficiency of the atrioventricular valve was found in 7 cases (63.6%). Three patients (27.3%) went to surgery for implantation of a fistula. It is a series of adult patients with right atrial isomerism and complex congenital heart disease that survived to adult live. The clinical and echocardiographic assessment actually allows establishing the correct diagnosis, to take therapeutic decisions and to do the follow-up in all patients. Till now we could not yet determine the differences of these patients in relation to the general population when they develop chronic degenerative disease.

Anatomic three-dimensional echocardiographic correlation of bicuspid aortic valve.

This study was undertaken to verify the echocardiographic characteristics of bicuspid aortic valve (AV) using 3-dimensional transesophageal echocardiography by comparing the findings with anatomic examination of autopsy specimens from carriers of this condition. Three-dimensional reconstructions of transesophageal echocardiograms were performed on 14 patients with bicuspid AV, and 20 autopsy specimens of bicuspid AVs were analyzed. Echocardiographic images and autopsy material were correlated. Two variants of bicuspid aorta were identified. In group I the AV had 2 leaflets. This group included 9 (9/14) 3-dimensional echocardiographic studies and 13 (13/20) necropsies. In group II 3 sigmoid leaflets had originally developed and 2 underwent dysplastic fusion, resulting in functionally bicuspid valves. Five (5/14) echocardiographic studies and 7 (7/20) anatomic specimens fell into this category. There was a clear correspondence between anatomic and echocardiographic findings, which leads to the conclusion that 3-dimensional echocardiography is a technique that reliably defines the morphological details of bicuspid AV with the precision of anatomopathologic examination.

Endocarditis por coxiella burnetii. Informe del primer caso diagnosticado en México / Coxiella buernetti endocarditis

Se presenta el primer caso de endocarditis por fiebre Q (EFQ) diagnosticado en México. Se trata de una niña de 10 años con estenosis subaórtica fibrosa y conducto arterioso permeable. En diciembre de 1996 inició con fiebre y hepato-esplenomegalia. Presentó isquemia cerebral transitoria. Hubo anemia, leucopenia, hipergamaglobulinemia, crioglobulinas, factor reumatoide, anticuerpos contra citoplasma de neutrófilos y antinucleares (antirribonucleoproteínas). Un ecocardiograma mostró vegetaciones en la válvula aórtica. Los hemocultivos fueron negativos. La serología para Coxiella burnetti fue positiva. Se inició tratamiento con doxiciclina y se realizó cierre del conducto arterioso, resección del rodete fibroso y extirpación de dos vegetaciones de la válvula aórtica. Continuará con el tratamiento antibiótico y se hará medición periódica de los niveles de anticuerpos específicos para valorar la respuesta. La endocarditis es la forma crónica más frecuente de la fiebre Q, se presenta cuando existen cardiopatías predisponentes o inmunodeficiencia. Aún no se han establecido medidas terapéuticas efectivas en todos los casos. Se sugieren esquemas de antibióticos por tiempo prolongado e inclusive la sustitución valvular. Se concluye que la EFQ es una enfermedad que pasa frecuentemente desapercibida y su diagnóstico debe plantearse, entre otros, en casos de endocarditis con hemocultivos negativos cuando exista la sospecha clínica