Background Amyloid light-chain (AL) amyloidosis is a life-threatening plasma cell disorder in which prognosis is largely determined by cardiac involvement. Early diagnosis remains uncommon. Case Summary A 65-year-old asymptomatic man was referred for familial hypertrophic cardiomyopathy screening. Echocardiography show...
Giuseppe Barberis Barcia, Inés Toranzo-Nieto, V. González-Calle et al.· JACC Case Reports· 0 citations
BACKGROUND
Disruption of MYBPC3 precursor mRNA splicing is a frequent genetic cause of hypertrophic cardiomyopathy (HCM). Most often, it reflects changes at canonical sites or the creation of novel splice sites. Prediction tools usually prioritize splice variants with lower efficiency when they are distant from canonic...
M. Gallego-Delgado, S. L. Lorenzo Hernández, Soledad García Hernández et al.· Circulation· 0 citations
These findings support MVA multiparametric prediction over the traditional left ventricular ejection fraction ≤35% threshold and allow clinically meaningful arrhythmic risk classification in patients with nonischemic dilated cardiomyopathy.
Noemí Ramos-López, N. Mora-Ayestarán, Juan Pablo Ochoa et al.· Circulation· 0 citations
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