Introduction: The case that we are presenting is focu-sed on the diagnosis of a recently introduced form of the dilated cardiomyopathy (DCM), the familial form of hypokinetic non-dilated cardiomyopathy (HNDC). Objective: T he aim is to illustrate the importance of cardiovascular screening in family members of im-plantable cardioverter defibrillator (ICD) probands, even though a gene-based diagnosis is not yet part of the common diagnostic lexicon.
Methods: A 49-year-old male admitted with recent chest pain, negative T-waves in I, aVL, V2-V3 and ne-gative myocardial cytolysis marker.Ecocardiography showed a severe reduced ejection fraction (EF) of 20%, with normal LV dimensions. An emergency coronary angiography excluded hemodinamically relevant ste-nosis. The patient installed cardiorespiratory arrest due to sustained VT, and he was successfully resuscitated. The patient was diagnosed with HNCD and an ICD was put in place as secondary prevention. Because he has a brother with a pacemaker implant due to IIIrd de-gree AV-Block (normal EF/LV dimensions), we consi-dered a familial form of the disease. Both brothers had positive cardiac autoantibodies.The criteria for possible disease in relatives was fulfilled, so a genetic testing was performed.
Results: A Laminin A/C gene mutation was identified in both brothers, so the diagnosis of familial hypokine-tic non-dilated cardiomyopathy was established, even though one of the brothers presented a subclinical form at the moment of diagnosis. In relatives who are muta-tion carriers there is a preclinical phase without car-diac expression, that subsequently progresses towards mild cardiac abnormalities, such as isolated LV enlar-gement, arrhythmias or conduction defects that can be observed in the early phase of genetic diseases, such as LMNA disorders. As the relatives of patients with genetic DCM/HNDC can develop overt disease, they should be considered for clinical and genetic testing.
Conclusions: It is imperative to understand that ge-netic DCM/HNDC can occur in individuals who are completely asymptomatic. Pre-symptomatic diagnosis of familial dilated cardiomyopathy emphasizes the im-portance of preventive screening in first-degree relati-ves, allows for early intervention and may result in the prevention or delayed onset of heart failure or sudden cardiac death.