Familial cardiomyopathies accounted for 54% of heart transplants in the Canary Islands, with 19% linked to emerin gene mutations and a 72% overall genetic yield.
Familial cardiomyopathies, particularly those driven by a founder emerin gene mutation, are the leading cause of heart transplantation in the Canary Islands, highlighting the critical role of genetic testing in reclassifying idiopathic cases.
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Abstract Introduction Familial cardiomyopathies are a common cause of heart transplantation. Moreover, advances in genetics have allowed us to identify certain cases that were previously considered idiopathic or attributed to other causes. Our objective was to analyze the characteristics of transplanted patients and the incidence of familial heart diseases in our cohort. Material and Methods A retrospective data analysis was conducted, reviewing the characteristics of 100 transplanted patients in our community from December 2019 to February 2025. The analysis included the phenotypic stratification of cardiomyopathies and the differentiation of the various genes involved in patients with clinically relevant positive genetic studies. Results 54% of the patients who underwent heart transplantation in our population had familial cardiomyopathies. Among them, the most frequent cause was dilated cardiomyopathy (74%), followed by hypertrophic and restrictive cardiomyopathy (11% in both cases). The overall genetic yield in these patients was 72%, reaching 100% in hypertrophic cardiomyopathy. Notably, 19% of these patients carried a pathogenic mutation in the emerin gene, which is a founder mutation in Tenerife. Additionally, 8 patients previously diagnosed with idiopathic cardiomyopathy or other causes were found to carry causal mutations. Conclusions In our cohort, familial cardiomyopathies are the most frequent etiology for heart transplantation, with dilated cardiomyopathy due to emerin gene mutation accounting for one-fifth of heart transplants in the Canary Islands. The genetic yield is higher than in published series on cardiomyopathies, likely due to more severe phenotypes. Given the current advances in genetics, we consider it essential to reconsider the diagnosis of cardiomyopathies that were previously misclassified as idiopathic or attributed to other causes (such as cardiotoxicity, alcohol-related, etc.)
Saavedra et al. (Sat,) reported a other. Familial cardiomyopathies accounted for 54% of heart transplants in the Canary Islands, with 19% linked to emerin gene mutations and a 72% overall genetic yield.
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