Background: non-syndromic dilated cardiomyopathy (DCM) is found to correlate with a genetic cause in 30-40 % of cases. The identification of a causative gene variant can guide treatment options and cascade testing of at-risk family members. Cardiomyopathy multigene panels are routinely used to identify the genetic cause, but often detect variants of uncertain significance (VUS).
View Article and Find Full Text PDFAims: Transthyretin cardiac amyloidosis (ATTR-CA) is a rare and progressive cardiomyopathy caused by amyloid fibril deposition in myocardial tissue. Diagnostic challenges have historically hampered timely detection. Recent advances in noninvasive diagnostic techniques have facilitated ATTR-CA diagnosis.
View Article and Find Full Text PDFCardiomyopathies are a heterogeneous group of cardiac diseases for which diagnosis and treatment are not always simple. The diagnosis of cardiomyopathy, in particular the etiology, comes from an integration between symptoms and results collected by several instrumental exams. The brain storming for the diagnosis includes also the identification of the "red flags", i.
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