This article is available online at http://www.jlr.org frequency of 1.3% in the cohort. Therefore, even though LDLR mutations are the major cause of ADH with a large mutation spectrum, APOE variants were found to be significantly associated with the disease. Furthermore, using structural analysis and modeling, the identifi ed APOE sequence changes were predicted to impact protein function. Abstract Autosomal dominant hypercholesterolemia (ADH) is a human disorder characterized phenotypically by isolated high-cholesterol levels. Mutations in the low density lipoprotein receptor ( LDLR ), APOB , and proprotein convertase subtilisin/kexin type 9 ( PCSK9 ) genes are well known to be associated with the disease. To characterize the genetic background associated with ADH in France, the three ADHassociated genes were sequenced in a cohort of 120 children and 109 adult patients. Fifty-one percent of the cohort had a possible deleterious variant in LDLR , 3.1% in APOB , and 1.7% in PCSK9 . We identifi ed 18 new variants in LDLR and 2 in PCSK9 . Three LDLR variants, including two newly identifi ed, were studied by minigene reporter assay confi rming the predicted effects on splicing. Additionally, as recently an in-frame deletion in the APOE gene was found to be linked to ADH, the sequencing of this latter gene was performed in patients without a deleterious variant in the three former genes. An APOE variant was identifi ed in three patients with isolated severe hypercholesterolemia giving a

In successfully reperfused STEMI patients, ivabradine may improve LV remodelling when added to current guideline-based therapy.

Owing to geometric changes, presumed contractility pattern shift and retrosternal position, conventional echocardiographic variables are not relevant for RV function assessment. Assessment of asynchrony and tricuspid regurgitation is easily feasible in routine practice and highly reproducible. Echocardiography does not permit complete assessment of the systemic RV after atrial redirection but is fully complementary with MRI and should not be abandoned. Future improvements in transducers and dedicated software should permit major improvements in the near future.

Prasugrel is a widely used antiplatelet agent in the setting of percutaneous coronary intervention. In case of resistance to this third-generation thienopyridine, choices of alternative drugs remain limited. Here, we describe a case of a 49-year-old man with stent thrombosis occurring 5 days after drug-eluting stent implantation despite a well-conducted antiplatelet therapy with aspirin and prasugrel. Evaluation of platelet functions by different tests revealed prasugrel resistance. Genotyping for various CYP single-nucleotide polymorphisms showed that the patient carried mutant alleles encoding enzymes CYP2B6 and CYP2C9 involved in prasugrel metabolic pathway. Strikingly, an adequate platelet response was rapidly obtained after switching from prasugrel to ticagrelor.

Long-term pacing of the nonsystemic ventricle in patients with atrial switch for TGA was associated with significantly impaired functional status, exercise capacity, and systemic ventricular function.

This report describes the case of a 6-month-old girl with a large cardiac fibroma in the right ventricle. Ventricular tachycardia associated with the fibroma was successfully treated with amiodarone. At the age of 3 years, surgical resection was indicated because of right ventricular outflow tract obstruction caused by progression of the tumor. The fibroma was successfully resected, and further follow-up evaluation was uneventful.

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