Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation
Section snippets
Study population
This study was approved by the ethics committee of the participant centers and complied with the Declaration of Helsinki.
A total of 52 non-related patients with HTx due to familial DCM at 3 Spanish heart transplant centers (Hospital Universitario Puerta de Hierro, Hospital Universitario 12 de Octubre and Hospital Universitario Virgen de la Arrixaca) were included in the study.
DCM was defined as familial if 1 or more relative(s) (in addition to the proband) had DCM during life or at post-mortem
Results
The study cohort comprised 52 patients (mean age at first evaluation 39.9 ± 14.3 years, range 11 to 64 years; 92% males). Clinical and familial characteristics are presented in Table S2 in Supplementary material 1 (available online at www.jhltonline.org). Fifty-one patients (98%) had known family history of DCM and 20 (38%) had family history of SCD (7 of those in a relative <35 years of age). Pedigrees of the 52 families are provided (see Supplementary material 2 available online at //www.jhltonline.org
Discussion
In this study we have examined, for the first time, the genetic basis of familial DCM in individuals with HTx. This work is also the first to address the yield of modern NGS technology plus detailed familial studies in this setting. Our findings show that the genetic spectrum of familial DCM patients undergoing HTx is heterogeneous and that several genes are involved in the pathogenesis of the disease. We also found that current NGS genetic studies, when combined with detailed familial
Disclosure statement
I.G.-D. is an employee of Health In Code; L.M. is shareholder of Health In Code; and S.C., L.P.-B., E.L.-P. and P.G.-P. share a patent on diagnostic testing. The other authors have no conflicts of interest to disclose. The authors gratefully acknowledge SecuGen for help with the haplotype analysis and Kenneth McCreath for English editing. This study was supported by the Instituto de Salud Carlos III (Grants PI11/0699, RD012/0042/0015, RD012/0042/0049, RD012/0042/0066 and RD12/0042/0069) and the
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