Publications by authors named "Begona Segura-Stanford"
Background: Opitz GBBB syndrome (GBBB) is an X-linked disease characterized by midline defects, including congenital heart defects. We present our diagnostic approach to the identification of GBBB in a consanguineous family in which two males siblings were concordant for a total anomalous connection of pulmonary veins and minor facial dysmorphias.
Methods: Targeted exome sequencing analysis of a 380-gene panel associated with cardiovascular disease was performed on the propositus.
Article Synopsis
- The incidence of total anomalous pulmonary venous connection (TAPVC) varies significantly between Caucasian (2.5/100,000) and Hispanic populations (19.8/100,000) and the study aims to identify maternal factors influencing TAPVC development.
- In the study, 55 mother-child pairs with TAPVC were compared to 152 healthy pairs, revealing that mothers of TAPVC children had more pregnancies and higher pre-pregnancy BMI, indicating a risk factor.
- The conclusion emphasizes that maternal obesity is linked to a higher risk of TAPVC in children within the Mexican population, highlighting the importance of maternal health before pregnancy.
[Prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children: a sample obtained from The Federico Gomez Children's Hospital of Mexico].
Arch Cardiol Mex
August 2019
Objective: To determine the prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children, and to identify the main early signs and symptoms that can enable the health personnel to suspect these diseases and to refer the patients to a tertiary hospital in a timely manner.
Methods: Incidence, prevalence, and period prevalence, as well as early symptoms, clinical data, and follow-up were recorded on all children found with diseases that predispose to sudden cardiac death in The Children's Hospital of Mexico.
Results: The study included 59 patients, with a mean age of 8 ± 5 years old, with 40 cardiomyopathies, and 19 with inherited arrhythmogenic diseases.
Pentalogy of Cantrell is a rare disease. Approximately 185 cases have been reported around the world. The authors performed a retrospective study that reviewed the clinical files and pathological samples of 22 cases of pentalogy of Cantrell treated at the Hospital Infantil de México Federico Gómez.
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- The study aimed to evaluate left ventricular function in patients who underwent successful repair of aortic coarctation and to identify factors that might lead to later functional issues.
- Echocardiographic data from 40 patients (mean age 6.9 years at repair) showed improvements in ejection fraction and shortening fraction in the majority, but 47.5% still had abnormal myocardial performance indices post-repair.
- Higher abnormalities in myocardial performance were found in patients with prior arterial hypertension, older age at repair, and more severe left ventricular issues prior to the procedure.
Article Synopsis
- The study aimed to analyze pulmonary venous flow in children with dilated cardiomyopathy and its relationship with mitral Doppler flow and functional class.
- Results showed that all 14 patients had abnormal pulmonary venous flow, and 9 of them had abnormal diastolic function when assessed through mitral Doppler flow.
- The findings suggest that pulmonary venous flow is a better indicator of diastolic function and correlates more closely with the functional class compared to mitral Doppler flow.