0000000000147923
AUTHOR
Karine Nguyen
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…
Prognosis of adults with left ventricular non compaction: Results from a prospective multricentric french study
Background Left ventricular non compaction (LVNC) is a rare cause of cardiomyopathy related to abnormal in utero myocardial development, leading to prominent trabeculations. Its prognosis remains unclear with conflicting data and mortality ranging from 2 to 38%. Purpose The aim of this study was to define the prognosis of newly diagnosed LVNC as compared to recently diagnosed dilated cardiomyopathy (DCM). Methods A prospective multicentric study with a 2-year follow-up was designed. The primary endpoint combined cardiovascular death, heart transplantation and hospitalisation for cardiovascular events. Three groups of patients were defined: Group A: new cases of LVNC, Group B: new cases of D…