Rare genetic cardiovascular diseases: descriptive epidemiological data in a Mexican third-level cardiology hospital outpatient clinic
Ibarra-Ibarra, Blanca Rebeca
ABSTRACT
Introduction: rare cardiovascular diseases are conditions with low prevalence in the general population that affect the cardiovascular system. Most have a genetic etiology with a heritable potential denominated as Rare Genetic Cardiovascular Diseases (RGCVD). Currently, there are scarce epidemiological studies on RGCVD, and the overall prevalence is unknown.
Objective: descriptive epidemiological analysis of RGCVD, emphasizing the overall prevalence estimation in a cardiovascular hospital. In addition, the cardiovascular phenotype distribution and other related demographic characteristics were analyzed.
Material and methods: the study consists of a retrospective descriptive epidemiological analysis from January to December 2019 in the outpatient clinic of a cardiovascular third-level hospital in Mexico City. RGCVD patients were identified with an exhaustive review of all clinical records. The overall prevalence of RGCVD was estimated. In addition, the number of diseases, cardiovascular phenotype distribution, and other demographic data of these diseases were analyzed.
Results: RGCVD comprised 794 of 31,487 patients in the outpatient clinic, corresponding to 104 diseases. The overall prevalence of RGCVD was 2.5% (95%CI, 2.3-2.7) patients. The prevalence of monogenic and chromosomal disorders was 2.1 and 0.4%, respectively. Congenital heart diseases were the most frequent cardiovascular phenotype (42.4%), and the less frequent were cardiac tumor disorders (0.9%).
Conclusions: the study identified that almost one in 40 patients in the outpatient clinic of a cardiology hospital had an RGCVD. The study also provides useful epidemiological information for further research and planning cardiovascular health services.
