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Five of the genes we focused on in our most recent publications are nowadays included among the nine main genes to study in cardiomyopathies:

FLNC

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FH0D3

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TRIM63

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Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy (Salazar-Mendiguchía et al., 2020). Heart (Impact factor 5.994).

ALPK3

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CSRP3

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Several of these studies have achieved an important international impact and have been included in international clinical practice guidelines. In 2016 we identified the most important association between a gene and dilated cardiomyopathy (DCM) described in recent years. Truncating FLNC mutations are associated with high-risk dilated and arrhythmogenic cardiomyopathies, Ortiz-Genga et al, 2016. Journal of the American College of Cardiology, Impact factor 24.094

Before our paper, the FLNC gene was only associated with the development of myofibrillar myopathy, a rare neurological condition. After describing the association with arrhythmogenic DCM by this multicentecenter study lead by Martín Ortiz from Health in Code for the first time, it is estimated that truncating vatriants in this gene explains around of 5% of DCM cases.

Walsh R, Offerhaus JA, Tadros R, Bezzina CR. Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies. Nat Rev Cardiol. 2021 Sep 15. DOI: 10.1038/S41569-021-00608-2. PMID: 34526680.

Regarding hypertrophic cardiomyopathy (HCM), the association of four of the last nine new secondary genes associated with the disease have been described first also by our group. The first one was FHOD3 in 2018, described by Juan Pablo Ochoa, our current director of cardiology. After the publication of the paper, FHOD3 could explain between 1-2% of HCM cases. In 2020, Joel Salazar identified biallelic TRIM63 variants as another cause of HCM, which explain up to 1% of HCM cases;; nowadays TRIM63 is consiered probaly the more common gene associated with HCM with a recessive inheritance. He also described the clinical picture of founder mutations in CSRP3 in this phenotype.

Finally, in 2021 Soledad García Hernandez and Luis de la Higuera, our data analyst, in collaboration with the UCL and Barts center published the paper in which truncations in ALPK3 in simple heterozygosis are association with the developmen of HCM (before this paper only biallelic variants were though to be disease-causing in a receesive manner). The inclusion of all of these genes in genetic panels represent a significant increase in the diagnosis yield, being this one of the contributions of our group.

All this experience is reflected in the inclusion of our group in statementes, position papers, and guidelines. For example, in 2022 two of the members of our group participated in the drafting and revision of the new international consensus of experts on the use of genetics in cardiovascular disease (Wilde et al. Expert Consensus Statement on the state of genetic testing for cardiac diseases. J Arrhythm. 2022 May 31;38(4):491-553. doi: 10.1002/joa3.12717. PMID: 35936045; PMCID: PMC9347209)