External validation of the ACC/AHA ASCVD risk score in a Colombian population cohort.

No cardiovascular risk score has included Latin American patients in its development. The ACC/AHA ASCVD risk score has not been validated in Latin America; consequently, its predictive capacity in the population of the region is unknown. The aim of this study is to evaluate the discrimination capacity and calibration of the ACC/AHA ASCVD score to predict the 10-year risk of a cardiovascular event in a primary prevention cohort followed in a Colombian hospital. A retrospective cohort study was conducted in primary prevention patients belonging to an intermediate/high-risk and low-risk cohort without established atherosclerotic disease. Cardiovascular risk was calculated at inclusion. The calibration was analyzed by comparing observed and expected events in the different risk categories. A discrimination analysis was made using the area under the ROC curve and C statistic. A total of 918 patients were included-202 from the intermediate/high-risk and 716 from the low-risk cohort. The median cardiovascular risk was 3.6% (IQR 1.7-8.5%). At the 10-year follow-up, 40 events (4,4%) occurred. The area under the ROC curve was 0.782 (95% CI 0.71-0.85). The Hosmer-Lemeshow test did not show differences between expected and observed events. The ACC/AHA ASCVD score is calibrated and has good discrimination capacity in predicting 10-year risk of cardiovascular events in a Colombian population.

A case report of a novel mutation in lamin A/C gene related with risk of sudden death.

Background: Lamin A/C-associated heart disease is a group of clinical entities characterized by a mutation in the LMNA gene. Multiple cardiac phenotypes have been described, including a higher risk of sudden death. Case summary: A 23-year-old asymptomatic patient with an extensive history of heart disease in the family consulted the clinic. He had a genetic test performed when he was born revealing a new frameshift mutation in the LMNA gene. Numerous cardiac function tests were ordered, which initially were normal. After a year of follow-up, Holter monitoring was positive for episodes of nonsustained ventricular tachycardia (NSVT). Because of the risk factors and higher likelihood of sudden death, a decision was made to offer an implantable cardiac defibrillator (ICD), which was performed without complications. The patient continues the follow-up with cardiology and electrophysiology consisting of yearly cardiac imaging and device recordings. Discussion: Lamins are nuclear proteins involved in various cellular processes in myocardial cells. Therefore, mutations are associated with wide phenotypic alterations. The mutation described here was not previously reported in the literature. In the face of an undescribed mutation, the decision to use an ICD for primary prevention of sudden death is challenging. Because of the episodes of NSVT and a higher likelihood of risk of sudden death due to male sex and first-degree atrioventricular block, the decision to use an ICD was made for this patient, with no complications.