Clinical Progress in the Management of Tetralogy of Fallot in the Dominican Republic: A Case Series.

BACKGROUND: Definitive surgical interventions for Dominican children with congenital heart disease, like those of other low- and middle-income countries, have been historically limited. METHODS: We undertook review of a case series focusing on the surgical correction of complex forms of tetralogy of Fallot at a single center, CEDIMAT Centro Cardiovascular, in the Dominican Republic, over a 30-month period. RESULTS: According to our criteria, 43 cases were determined to be complex tetralogy of Fallot repairs from the two-year period. Besides tetralogy of Fallot, the cohort had an additional 55 anatomic anomalies that had to be addressed at the time of surgery. Median age at the time of surgery was notably 30 months, and an average of 42 months elapsed from the time of diagnosis to the time of surgery for this group. Only 33% of the cases reviewed had no hypercyanotic crises before repair. Median time to extubation for this group of patients was one day, with a three-day median length of stay in the intensive care setting. CONCLUSIONS: Our study importantly captures the present experience of a surgical congenital heart program that has recently transitioned from a traditional "mission model" to a now self-sustaining local practice. Both the number and the complexity of the lesions corrected in this caseload represent an advance from the level of care previously provided to children in the Dominican Republic.

Anestesia para cirugía convencional en paciente con tetralogía de Fallot. Presentación de un caso / Anesthesia for conventional surgery in a patient with Tetralogy of Fallot. Case presentation

La tetralogía de Fallot es la forma más frecuente de cardiopatía congénita cianótica que se presenta en los neonatos. Los cuatro componentes de la enfermedad son: la alineación anormal de la comunicación interventricular, la obstrucción infundibular del ventrículo derecho, el cabalgamiento aórtico de la comunicación interventricular y la hipertrofia del ventrículo derecho. En este trabajo se trata un caso que se presentó para una cirugía convencional frecuente, la Histerectomía Abdominal Total debido a un mioma uterino, en una paciente que padecía de tetralogía de Fallot, con 43 años de edad, situación poco frecuente en la práctica diaria. El objetivo de este trabajo es exponer la experiencia del caso, que necesitó un manejo cuidadoso y que no aparece en la literatura básica. Habitualmente se aplica anestesia para niños con esta malformación para mejorar la calidad de vida o corregirla definitivamente, y porque precisamente solo el 2 % de los pacientes con esta enfermedad, que no han sido tratados quirúrgicamente, pueden arribar a la cuarta década de vida (AU).

The tetralogy of Fallot is the most frequent form of cyanotic congenital heart diseases presented in newborns. The disease’s four components are: abnormal alignment of intraventricular communication, right ventricle infundibular obstruction, aortic straddling of intraventricular communication, and right ventricle hypertrophy. The case presented is a case of a frequent conventional surgery, the total abdominal hysterectomy due to a uterine myoma, in a patient, aged 43 years, suffering for tetralogy of Fallot, a little frequent situation in the daily practice. The objective is exposing the experience of the case, demanding a careful management, which was not found in the main literature sources. Anesthesia is usually used in children with this malformation to improve their life quality or it is definitively corrected; only 2 % of the patients suffering this disease that have not been surgically treated are still alive in the fourth decade of life (AU).

A single misstep in cardiac development explains the co-occurrence of tetralogy of fallot and complete atrioventricular septal defect in Down syndrome.

Tetralogy of Fallot and a complete atrioventricular septal defect are thought to arise by distinct mechanisms, yet their co-occurrence is a recognized association. Analysis of the prevalence of co-occurrence in Down syndrome suggests a common developmental basis. Trisomy 21 may perturb cardiac progenitor cells before they enter the heart tube.

Análisis de microdeleciones en 22q11 en pacientes colombianos con cardiopatía congénita no sindrómica / Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease

Los defectos cardiacos conforman las malformaciones congénitas más frecuentes, con una incidencia que se ha estimado entre 4 y 12 por 1000 en recién nacidos vivos. Estos tienen una etiología multifactorial en la que convergen la predisposición genética y los factores ambientales. A partir de 1990 se ha relacionado este tipo de patologías con microdelección 22q11. Se determinó la frecuencia de la microdeleción 22q11 en pacientes con cardiopatía congénita no sindrómica. Se analizaron 61 pacientes con cardiopatía congénita, a partir de ADN de sangre periférica y posterior amplificación, mediante PCR multiplex del gen TUPLE1 y del STR D10S2198, visualización electroforesis en geles de agarosa y análisis densitométrico para determinar dosis génica. Se encontraron 3 pacientes con microdeleción 22q11, para una frecuencia de 4,9%. Esta microdeleción se asoció en dos de los casos a Tetralogía de Fallot y en el otro a Defecto Septal Atrial (DSA). En conclusión, la frecuencia de microdeleción 22q11 en la población analizada es de 4,9%. Dentro de los casos de Tetralogía de Fallot, la microdeleción estaba presente en el 7,4% y en los DSA corresponde al 11,1%.

Cardiac defects are the most frequent congenital malformations, with an incidence estimated between 4 and 12 per 1000 newborns. Their etiology is multifactorial and might be attributed to genetic predispositions and environmental factors. Since 1990 these types of pathologies have been associated with 22q11 microdeletion. In this study, the frequency of microdeletion 22q11 was determined in 61 patients with non-syndromic congenital heart disease. DNA was extracted from peripheral blood and TUPLE1 and STR D10S2198 genes were amplified by multiplex PCR and visualized in agarose gels. Gene content was quantified by densitometry. Three patients were found with microdeletion 22q11, representing a 4.9% frequency. This microdeletion was associated with two cases of Tetralogy of Fallot and a third case with atrial septal defect (ASD). In conclusion, the frequency for microdeletion 22q11 in the population analyzed was 4.9%. The cases that presented Teratology of Fallot had a frequency for this microdeletion of 7.4% and for ASD of 11.1%.

[Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease]. / Análisis de microdeleciones en 22q11 en pacientes Colombianos con cardiopatía congénita no sindrómica.

Cardiac defects are the most frequent congenital malformations, with an incidence estimated between 4 and 12 per 1000 newborns. Their etiology is multifactorial and might be attributed to genetic predispositions and environmental factors. Since 1990 these types of pathologies have been associated with 22q11 microdeletion. In this study, the frequency of microdeletion 22q11 was determined in 61 patients with non-syndromic congenital heart disease. DNA was extracted from peripheral blood and TUPLE1 and STR D10S2198 genes were amplified by multiplex PCR and visualized in agarose gels. Gene content was quantified by densitometry. Three patients were found with microdeletion 22q11, representing a 4.9% frequency. This microdeletion was associated with two cases of Tetralogy of Fallot and a third case with atrial septal defect (ASD). In conclusion, the frequency for microdeletion 22q11 in the population analyzed was 4.9%. The cases that presented Teratology of Fallot had a frequency for this microdeletion of 7.4% and for ASD of 11.1%.

Epidemiology of nonsyndromic conotruncal heart defects in Texas, 1999-2004.

INTRODUCTION: Congenital heart defects (CHDs) are the most common structural birth defects, yet their etiology is poorly understood. As there is heterogeneity within the group of CHDs, epidemiologic studies often focus on subgroups, of conditions, such as conotruncal heart defects (CTDs). However, even within these subgroups there may be etiologic heterogeneity. The aim of the present study was to identify and compare maternal and infant characteristics associated with three CTDs: truncus arteriosus (TA), dextro-transposition of the great arteries (d-TGA), and tetralogy of Fallot (TOF). METHODS: Data for cases with nonsyndromic TA (n = 78), d-TGA (n = 438), and TOF (n = 529) from the Texas Birth Defects Registry, 1999-2004, were used to estimate crude and adjusted prevalence ratios, separately for each condition, using Poisson regression. Polytomous logistic regression was used to determine whether the observed associations were similar across the two largest case groups (d-TGA and TOF). RESULTS: In Texas, 1999-2004, the prevalence of nonsyndromic TA, d-TGA, and TOF was 0.35, 1.98, and 2.40 per 10,000 live births, respectively. There was evidence of a significant linear increase in the risk of each condition with advancing maternal age (p < 0.01). Significant associations were observed for TA and maternal residence on the Texas-Mexico border; d-TGA and infant sex, maternal race/ethnicity, history of previous live birth, and birth year; and TOF and maternal race/ethnicity and education. Further, the associations with some, but not all, of the study variables were significantly different for d-TGA and TOF. CONCLUSION: These findings add to our limited understanding of the epidemiology of CTDs.

Frequency of 22q11.2 microdeletion in sporadic non-syndromic tetralogy of Fallot cases.

BACKGROUND: Tetralogy of Fallot (TOF) is a congenital conotruncal heart defect commonly found in DiGeorge (DGS) and velocardiofacial (VCFS) syndromes. The deletion of chromosome 22q11 has also been demonstrated in sporadic or familial cases of TOF. The aim of the present study was to investigate the frequency of del22q11 in patients with non-syndromic TOF seen at a tertiary Pediatric Cardiology care center. METHOD: One hundred and twenty three non-syndromic TOF patients were selected and evaluated by history, physical examination and review of medical records. Venous blood was drawn for genomic DNA extraction after informed consent 22q11 microdeletion diagnosis was conducted through a standardized SNP genotyping assay and consecutive homozygosity mapping. Phenotype-genotype correlations regarding cardiac anatomy were conducted. RESULTS: We evaluated 123 non-syndromic TOF patients for a 22q11 deletion. 105 (85.4%) patients presented pulmonary stenosis and 18 (14.6%) had pulmonary atresia. Eight patients (6.5%) were found to have a deletion. Of the deleted patients, three (37.5%) presented pulmonary atresia. We have verified a tendency towards a higher prevalence of pulmonary atresia when comparing TOF patients with and without 22q11 microdeletion. CONCLUSIONS: 22q11.2 deletion in non-syndromic TOF patients is present in approximately 6% of patients. We suggest a tendency towards a higher prevalence of pulmonary atresia in non-syndromic TOF patients with 22q11 microdeletion. Molecular genetic screening of non-syndromic TOF patient may be important for the correct care of these patients and a more specific genetic diagnostic and counseling.

Anomalous subaortic course of the left brachiocephalic (innominate) vein: echocardiographic diagnosis and report of an unusual association.

Subaortic left brachiocephalic, or innominate, vein is an uncommon finding in congenital heart disease, usually associated with obstruction of the right ventricular outflow tract. We describe our experience with 14 patients in whom the lesion was identified echocardiographically, 12 of them with right ventricular obstruction, one with totally anomalous pulmonary venous connection in the absence of obstruction to the right ventricular outflow tract, and the final one with a normal heart. A precise diagnosis of this venous anomaly is of great importance, since it needs to be differentiated from a central pulmonary artery, a pulmonary venous confluence, or an ascending vertical vein in totally anomalous pulmonary venous connection. In patients referred for surgery without catheterization, an incorrect echocardiographic diagnosis could lead to disastrous surgical results.

[The transatrial-transpulmonary correction of tetralogy of Fallot]. / Corrección transatrial-transpulmonar de la tetralogía de Fallot.

The technical problems and morbi-mortality related with operations in two stages repair of tetralogy of Fallot (T.F) had lead several groups to correct it in early stages. We present 19 infants with T.F operated between July of 1988 and August 1992, 11 males and 8 females whose ages ranged from eleven months to eleven years. Without previous surgery, the preoperative catheterization show 71.4 mm Hg of trans-infundibular gradient. The obstruction was relieved through right atriotomy in combination with one pulmonary arteriotomy from above. The ventricular septal defect was closed. One patient with severe pulmonary hypertension died. The rest show gradient less than 21 mm Hg, and NYHA I-II without medicine (23.1 months of follow up). The echocardiography shows that pulmonary regurgitation was present in 54.9% but only 3 cases was it graded as moderated and none was it severe. Transatrial transpulmonary repairs avoids the depression of ventricular performance caused by transannular corrections with ventriculotomy. Preserves muscular contractions and thus reduces the propensity to right ventricular failure. It can be performed to many patients included anomalous origin of the left anterior descending coronary artery.

Treinta y tres años de cirugía correctora en tetralogía de Fallot / Surgical results in patients with tetralogy of Fallot

En 1957 se inició en el Centro Cardiovascular del Hospital "Luis Calvo Mackenna" la corrección quirúrgica de la tetralogía de Fallot (excluidos los niños con atresia pulmonar y comunicación interventricular). Desde entonces hasta diciembre de 1989 se han intervenido 591 de estos pacientes. Se revisa la letalidad entre los 92 y 243 pacientes operados desde 1957 a 1967 y desde 1968 a 1979, respectivamente, así como en los 256 pacientes del período 1980 a 1989, en los que también se analizan las complicaciones postoperatorias y los resultados a corto y mediano plazo (seguimiento promedio 57,5 meses), según edad y técnica quirúrgica empleada. La letalidad general ha descendido de 32,6% en el primer período a 4,29% entre los años 1980 y 1989, en que no fallecieron pacientes corregidos primariamente antes del año de vida (17 casos). No hubo diferencias significativas de letalidad según técnicas empleadas (parche infundibular, parche transanular, vía transanular o valvulotomía exclusiva). La principal causa de muerte fue bajo débito cardíaco en el período postoperatorio (82%). En 98,8% de los pacientes del último período de estudio la capacidad funcional actual es I (NYHA). Sólo un paciente tiene evidencia de insuficiencia severa de válvula pulmonar. Existe una clara tendencia a hacer reparaciones más precoces y notoria disminución de la letalidad, requiriéndose mayores estudios prospectivos de largo plazo, para evaluar morbilidad futura de las distintas técnicas actualmente empleadas