Category Archives: Artículos

A study led by Health in Code cardiologists reveals the key role of intermediate-effect variants in hypertrophic cardiomyopathy

Genética Cardiovascular Health in Code

Published in the journal Circulation and led by Dr. Soledad García-Hernández as first author and Dr. Juan Pablo Ochoa as senior author and study coordinator, the work aims to address the enigma of cases where no clear causal variant is found.   September 2, 2025.   Hypertrophic cardiomyopathy (HCM) is one of the cardiac diseases […]

New article on a causative gene for dilated cardiomyopathy: truncating variants in TBX20 are associated with its development

A new collaborative study led by Health in Code’s Cardiology Team with the participation of more than 20 national and international centers has been published in the journal Circulation: Genomic and Precision Medicine. The results demonstrate the association of TBX20 with the development of dilated/noncompaction cardiomyopathy; therefore, this gene should be included in the list […]

Expanding Knowledge on the Genetics of Hypertrophic Cardiomyopathy: A New Prevalent Intermediate-Effect Variant in the FHOD3 Gene

• The intermediate-effect variant p.Arg637Gln in the FHOD3 gene has been identified to increase the risk of developing hypertrophic cardiomyopathy and is associated with an aggressive phenotype in homozygous carriers.   • This conclusion comes from a new study led by Dr. Juan Pablo Ochoa, Medical Director at Health in Code, with Dr. Jesús Piqueras […]

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