Timothy syndrome (TS) is a rare multisystem disease has a characterized association of long QT syndrome (LQTS) type-8 with the congenital cardiac and extracardiac malformations (neurological and dysmorphic facial features, syndactyly). It is caused by heterozygous mutations in the CACNA 1C gene, which participates in decoding the calcium channels. In this study, we describe a case of TS, which has systemic phenotypic characteristics associated with a long QT interval on the electrocardiogram.. The LQTS predisposes to a characteristic life-threatening ventricular arrhythmia known as Torsades de pointes or "twisting of the points". In this scenario, the authors describes the main clinical characteristics in a case of TS focusing on improve the ability of early diagnosis and better management of LTQS type-8.

Background: Juvenile systemic lupus erythematosus (JSLE) is a chronic inflammatory disease that affects the heart in 50% of cases. The behavior of diastolic function in adolescents and the predictors of its occurrence by conventional echocardiography are poorly established.Objectives: This study aimed to evaluate diastolic function in adolescents with JSLE and to identify possible predictors of its occurrence by conventional echocardiography.Methods: Cross-sectional, observational, control group study in a tertiary hospital of 49 adolescents with JSLE and 49 controls, using the EACVI 2016 guideline classification. Statistical methods used were Fisher and Mann-Whitney tests. Multivariate logistic regression models were constructed. A significance level of 5% was adopted.Results: Among 98 patients, the JSLE group had higher indexed left atrial volume (p <0.001), lower lateral E' value (p<0.001) and lower E/A ratio value (p<0.001). The diagnosis of JSLE was associated with a higher chance of increased left atrial index volume (OR 3.3; p value 0.03). Conclusions:Based on the 2016 guideline, no diastolic dysfunction was found in JSLE. However, differences in the analyzed echocardiographic parameters were found in these adolescents.