Letter by Ma et al Regarding Article, “Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy”
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To the Editor:
Tucker et al1 reported a novel FLNC V2297M mutation in 4-generation restrictive cardiomyopathy (RCM) pedigree and validated its pathogenic effects with human embryonic stem cell-derived cardiomyocytes edited by Cas9. Notably, we have also identified the same FLNC mutation in a 3-generation RCM pedigree with Chinese ancestry.
The 26-year-old male proband showed dual atrial dilatation with a left atrial diameter of 43 mm at the age of 17 and has now developed a restrictive filling pattern without cardiac hypertrophy on echocardiography with Doppler imaging (left ventricular ejection fraction of 62%) and atrial flutter on the …