title: Ventricular Hinge Point Fibrosis as a Pathological Marker of Hypertrophic Cardiomyopathy in the Absence of Significant Left Ventricular Hypertrophy?
abstract: A 54-year-old woman presented with presyncope and nonsustained ventricular tachycardia. Cardiac magnetic resonance imaging showed normal cardiac dimensions and left ventricular function. Late gadolinium enhancement was noted at the anterior and posterior right ventricular/left ventricular hinge points. Repeat cardiac magnetic resonance imaging at 1 year confirmed persistence of hinge point enhancement. Hypertrophic cardiomyopathy genotyping revealed the common C to T substitution at coding nucleotide 1504 of MYBPC3, c1504C>T. This variant has previously been reported as pathogenic in hypertrophic cardiomyopathy. Our case suggests that late gadolinium enhancement at the hinge points of nonhypertrophied hearts may account for clinically symptomatic ventricular arrhythmia.
authors.affiliation: Cardiology Department, Liverpool Heart and Chest Hospital, Liverpool, United Kingdom. Electronic address: dwyew@hotmail.com.
authors.forename: Wern Yew
authors.initials: WY
authors.lastname: Ding
authors.affiliation: Cardiology Department, Liverpool Heart and Chest Hospital, Liverpool, United Kingdom.
authors.forename: Robert M
authors.initials: RM
authors.lastname: Cooper
authors.affiliation: Cardiology Department, Liverpool Heart and Chest Hospital, Liverpool, United Kingdom.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Hasleton
authors.affiliation: Clinical Genetics Department, Liverpool Women's Hospital, Liverpool, United Kingdom.
authors.forename: Victoria
authors.initials: V
authors.lastname: McKay
authors.affiliation: Cardiology Department, Liverpool Heart and Chest Hospital, Liverpool, United Kingdom.
authors.forename: Simon
authors.initials: S
authors.lastname: Modi
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D002352:Carrier Proteins / Q000235:genetics; D042241:Early Diagnosis; D004562:Electrocardiography / Q000379:methods; D005260:Female; D005682:Gadolinium / Q000494:pharmacology; D006801:Humans; D007089:Image Enhancement / Q000379:methods; D019028:Magnetic Resonance Imaging, Cine / Q000379:methods; D008875:Middle Aged; D017180:Tachycardia, Ventricular / Q000175:diagnosis / Q000209:etiology; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D005682:Gadolinium; D000099163:Myosin Binding Protein C