ABSTRACT
Background: Familial DCM (FDCM) is identified when two or more firstdegree relatives have idiopathic dilated cardiomyopathy (DCM) or unexplained death at a young age. This report aims to highlight the clinical manifestations of FDCM in a Nigerian family, emphasizing the importance of genetics while addressing the paucity of local data.
Case Presentation: This report describes a 22-year-old male with DCM whose elder sibling died from DCM, and a younger one had similar echocardiographic features as the index patient, highlighting the hereditary nature of the disease
within his family The patient, initially asymptomatic, reported easy fatigability, breathlessness, and cough, which worsened over three months. Clinical examinations revealed signs of advanced heart failure, including elevated jugular venous pressure and fine bibasal crepitations. Echocardiography confirmed DCM. Despite initial treatment, the patient developed an intracardiac clot and required an extensive medication regimen. Family history indicated an autosomal dominant inheritance pattern, with a younger sibling also showing features of DCM.
Conclusion: This case underscores the importance of genetic factors in the pathogenesis of FDCM and highlights the challenges of managing the disease, particularly in resource-limited settings. Early family screening, patient education, and adherence to treatment protocols are crucial for improving outcomes. There is a need for accessible genetic testing to facilitate early diagnosis and intervention in at-risk populations.
Keywords: Familial cardiomyopathy, Genetic predisposition, Heart failure, Genetics, Inherited heart disease