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Foram incluídos 13 pacientes não relacionados, nove (69%) do sexo masculino, com idade média na altura do diagnóstico de 33☑3 anos, oito (62%) com doença familiar. Métodos e resultados: Variantes genéticas foram pesquisadas em 15 genes pré-selecionados com base em variantes previamente identificadas em pacientes com miocardiopatia dilatada. Neste trabalho, pretendemos contribuir para o conhecimento das variantes genéticas presentes em pacientes adultos submetidos a transplante cardíaco, descrevendo os resultados obtidos utilizando técnicas de sequenciação de ADN de nova geração. Resumo: Introdução e objetivos: A miocardiopatia dilatada é uma doença miocárdica que pode evoluir para um estádio terminal, requerendo transplante cardíaco. LMNA is one of the most frequently mutated genes and should be included in all target gene assessments of end-stage DCM patients until more data are available.

Conclusion: Our results highlight the potential of NGS in the genetic characterization of DCM patients. Two patients were double and triple heterozygotes in the LBD3 and LMNA genes, respectively. The majority were classified as of uncertain significance.

These variants were new in most patients. Nine genetic variants were identified in six (46%) patients: five in LMNA, two in LBD3, one in TNNT2 and one in TCAP. Thirteen unrelated patients were included, nine (69%) male, mean age at diagnosis 33☑3 years, eight (62%) with familial DCM. Methods and Results: Genetic variants were screened in 15 genes, preselected based on variants previously identified in DCM patients.

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In this work we aim to contribute to knowledge of genetic variants in adult patients undergoing heart transplantation due to end-stage DCM, reporting the results obtained in our single-center tertiary hospital series using target next-generation sequencing (NGS). Introduction and Objectives: Dilated cardiomyopathy (DCM) is a myocardial disease that can progress to a terminal stage, requiring heart transplantation. Our results highlight the potential of NGS in the genetic characterization of DCM patients. Genetic variants were screened in 15 genes, preselected based on variants previously identified in DCM patients. The …ĭilated cardiomyopathy (DCM) is a myocardial disease that can progress to a terminal stage, requiring heart transplantation. The diagnosis of idiopathic DCM was confirmed by excluding all specific causes of left ventricular dysfunction. A DNA sample was obtained from 81% (n = 66) of these 81 patients, who fulfilled the commonly approved diagnostic criteria for DCM (left ventricular ejection fraction 27 mm/m2) at the time of diagnosis. Of all 158 surviving patients, 81 had an initial diagnosis of primary DCM. So far, several research groups have described about 40 DCM associated mutations in this gene.1–4 Heart disease caused by lamin A/C gene mutations is characterised by conduction system disorders with the need for permanent pacemaker implantation, atrial fibrillation, severe heart failure, and increased risk for sudden cardiac death.4 Patients with mutations in the lamin A/C gene often develop a progressive form of disease leading to heart transplantation or sudden cardiac death.4 Therefore, we decided to investigate a homogeneous group of consecutive Finnish heart transplant recipients with end stage DCM and to search for mutations in the lamin A/C gene.Īll surviving Finnish patients who received a heart transplant between 19 were enrolled in the study. Mutations in the lamin A/C gene seem to be important aetiological factors in familial DCM. Knowledge of the genetics of DCM has progressed considerably in recent years.1 At least one third of idiopathic DCM cases are familial. The aetiology and clinical presentation of DCM are heterogeneous. Dilated cardiomyopathy (DCM) is a primary myocardial disease characterised by impaired systolic function and dilatation of the left or both ventricles.

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