title: Fast diastolic swinging motion of the mitral valve as a clinical marker of familial hypertrophic cardiomyopathy in genetically affected young children without left ventricular hypertrophy: a new role for noninvasive imaging?
abstract: Structural mitral valve (MV) abnormalities are common in patients with hypertrophic cardiomyopathy (HCM). This is the first report demonstrating MV abnormalities in very young children as the sole overt clinical feature of a known HCM-causing sarcomere protein gene mutation. Due to MV leaflet elongation, we also noticed a typical fast diastolic swinging motion of the MV in our patients. This novel echocardiographic feature may be used as a clinical marker of HCM disease in the absence of left ventricular hypertrophy.
authors.affiliation: Department of Pediatric Cardiology, Heart Center Cologne, University Hospital of Cologne, Cologne, Germany. floris.udink-ten-cate@uk-koeln.de
authors.forename: Floris E A
authors.initials: FE
authors.lastname: Udink ten Cate
authors.forename: Shino
authors.initials: S
authors.lastname: Junghaenel
authors.forename: Konrad
authors.initials: K
authors.lastname: Brockmeier
authors.forename: Narayanswami
authors.initials: N
authors.lastname: Sreeram
mesh_terms: D024741:Cardiomyopathy, Hypertrophic, Familial / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004452:Echocardiography / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D008943:Mitral Valve / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D018994:Myosin Light Chains / Q000235:genetics*
chemical_list: C466107:MRLC2 protein, human; D018994:Myosin Light Chains
keywords: accessory papillary muscle; echocardiography; hypertrophic cardiomyopathy; leaflet elongation; mitral valve; preclinical