Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.

BACKGROUND: Brugada syndrome (BrS) is a rare genetic cardiac arrhythmia that can lead to sudden cardiac death in patients with a structurally normal heart. Genetic variations in SCN5A can be identified in approximately 20-25% of BrS cases. The aim of our work was to determine the spectrum and prevalence of genetic variations in a Spanish cohort diagnosed with BrS. METHODOLOGY/PRINCIPAL FINDINGS: We directly sequenced fourteen genes reported to be associated with BrS in 55 unrelated patients clinically diagnosed. Our genetic screening allowed the identification of 61 genetic variants. Of them, 20 potentially pathogenic variations were found in 18 of the 55 patients (32.7% of the patients, 83.3% males). Nineteen of them were located in SCN5A, and had either been previously reported as pathogenic variations or had a potentially pathogenic effect. Regarding the sequencing of the minority genes, we discovered a potentially pathogenic variation in SCN2B that was described to alter sodium current, and one nonsense variant of unknown significance in RANGRF. In addition, we also identified 40 single nucleotide variations which were either synonymous variants (four of them had not been reported yet) or common genetic variants. We next performed MLPA analysis of SCN5A for the 37 patients without an identified genetic variation, and no major rearrangements were detected. Additionally, we show that being at the 30-50 years range or exhibiting symptoms are factors for an increased potentially pathogenic variation discovery yield. CONCLUSIONS: In summary, the present study is the first comprehensive genetic evaluation of 14 BrS-susceptibility genes and MLPA of SCN5A in a Spanish BrS cohort. The mean pathogenic variation discovery yield is higher than that described for other European BrS cohorts (32.7% vs 20-25%, respectively), and is even higher for patients in the 30-50 years age range.

Cardiovascular risk factors encountered during medical examination in athletic children.

Cardiovascular risk factors can predispose to cardiovascular disease in adults or lead to cardiovascular events while practicing sports. The objectives of this study were: 1) to estimate the distribution of individual cardiovascular risk factors; 2) to establish a relationship between cardiovascular risk factors in parents or grandparents and the children's clinical condition. This was a retrospective study to assess overweight, obesity and hypertension in 1021 child athletes. The family history of obesity, type 2 diabetes, ischemic heart disease, and stroke was studied. Out of the studied children, 22.1% (n= 226) were obese and 2.1% (n= 21) had hypertension. Obesity was the most common family risk factor (30%).

Factores de riesgo cardiovascular hallados en ocasión del examen médico en niños deportistas / Cardiovascular risk factors fnding during medical examination in athletic children

Los factores de riesgo cardiovascular pueden favorecer la presencia de enfermedades cardiovasculares en la adultez o contribuir a la aparición de eventos cardiovasculares durante la práctica deportiva. Los objetivos de este estudio fueron: 1) estimar la distribución de factores de riesgo cardiovascular personales; 2) vincular la presencia de factores de riesgo cardiovascular en los padres o abuelos a la condición clínica de los niños. Se realizó un estudio retrospectivo para evaluar el sobrepeso, la obesidad y la hipertensión en 1021 niños deportistas. Se estudiaron los antecedentes familiares de obesidad, diabetes tipo 2, cardiopatía isquémica y accidente cerebrovascular. El 22,1% (n= 226) de los niños eran obesos y 2,1% (n= 21) eran hipertensos. La obesidad fue el factor familiar más frecuente (30%).

Cardiovascular risk factors can predispose to cardiovascular disease in adults or lead to cardiovascular events while practicing sports. The objectives of this study were: 1) to estimate the distribution of individual cardiovascular risk factors; 2) to establish a relationship between cardiovascular risk factors in parents or grandparents and the children's clinical condition. This was a retrospective study to assess overweight, obesity and hypertension in 1021 child athletes. The family history of obesity, type 2 diabetes, ischemic heart disease, and stroke was studied. Out of the studied children, 22.1% (n= 226) were obese and 2.1% (n= 21) had hypertension. Obesity was the most common family risk factor (30%).