Mitral Valve Abnormalities Identified by Cardiovascular Magnetic Resonance Represent a Primary Phenotypic Expression of Hypertrophic Cardiomyopathy

Background-Whether morphological abnormalities of the mitral valve represent part of the hypertrophic cardiomyopathy (HCM) disease process is unresolved. Therefore, we applied cardiovascular magnetic resonance to characterize mitral valve morphology in a large HCM cohort. Methods and Results-Cine cardiac magnetic resonance images were obtained in 172 HCM patients (age, 42 +/- 18 years; 62% men) and 172 control subjects. In addition, 15 HCM gene-positive/phenotype-negative relatives were studied. Anterior mitral leaflet (AML) and posterior mitral leaflet lengths were greater in HCM patients than in control subjects (26 +/- 5 versus 19 +/- 5 mm, P < 0.001; and 14 +/- 4 versus 10 +/- 3 mm, P < 0.001, respectively), including 59 patients (34%) in whom AML length alone, posterior mitral leaflet length alone, or both were particularly substantial (>2 SDs above controls). Leaflet length was increased compared with controls in virtually all HCM age groups, including young patients 15 to 20 years of age (AML, 26 +/- 5 versus 21 +/- 4 mm; P = 0.0002) and those >= 60 years of age (AML, 26 +/- 4 versus 19 +/- 2 mm; P < 0.001). No relation was evident between mitral leaflet length and LV thickness or mass index (P = 0.09 and P = 0.16, respectively). A ratio of AML length to LV outflow tract diameter of >2.0 was associated with subaortic obstruction (P = 0.001). In addition, AML length in 15 genotype-positive relatives without LV hypertrophy exceeded that of matched control subjects (21 +/- 3 versus 18 +/- 3 mm; P < 0.01). Conclusions-In HCM, mitral valve leaflets are elongated independently of other disease variables, likely constituting a primary phenotypic expression of this heterogeneous disease, and are an important morphological abnormality responsible for LV outflow obstruction in combination with small outflow tract dimension. These findings suggest a novel role for cardiac magnetic resonance in the assessment of HCM. (Circulation. 2011;124:40-47.)