0000000000147919
AUTHOR
Valeria Donghi
Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction
International audience; Background: Few data exist concerning genotype-phenotype relationships in left ventricular noncompaction (LVNC).Methods and results: From a multicenter French Registry, we report the genetic and clinical spectrum of 95 patients with LVNC, and their genotype-phenotype relationship. Among the 95 LVNC, 45 had at least 1 mutation, including 14 cases of mutation in ion channel genes. In a complementary analysis including 16 additional patients with ion channel gene mutations, for a total of 30 patients with ion channel gene mutation, we found that those patients had higher median LV ejection fraction (60% vs 40%; P < .001) and more biventricular noncompaction (53.1% vs 18…
Multimodality imaging approach to paradoxical embolism: a cauliflower mass on the Eustachian valve
The Eustachian valve was first described by Bartolomeo Eustachio (Italian anatomist) at 1552. It is an embryological remnant of the inferior vena cava valve that prenatally directs the oxygenated blood from inferior vena cava across the patent foramen ovale (PFO) into systemic circulation. Generally, following birth, after the closure of the foramen ovale it gradually regresses and not have a specific function, but it may persist in some patients as a floating membrane in the right atrium (RA), a nonpathological functionless structure.1 The prevalence of Eustachian valve in the normal population is unknown. Generally, it is an incidental finding without any significant pathophysiological co…