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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Clinical profile of hypertrophic cardiomyopathy identified de novo in rural communities.

OBJECTIVES: The purpose of this study was to assess the extent to which hypertrophic cardiomyopathy (HCM) exists unsuspected and undetected in the general population. BACKGROUND: Hypertrophic cardiomyopathy is a disease with diverse natural history for which the potential to produce adverse consequences has been emphasized. However, the possibility of this disease remaining clinically dormant for many years has not been as widely appreciated. Certainly, the clinical recognition of previously undiagnosed patients with HCM may be advantageous by permitting risk stratification for sudden cardiac death or for timely pharmacologic therapy when symptoms intervene. METHODS: We prospectively conducted an echocardiographic survey in 64 primarily rural communities within Minnesota (populations < 10,000) over a 33-month period. RESULTS: A total of 15,137 echocardiograms were performed at the request of primary care physicians for the purpose of excluding cardiovascular abnormalities. Hypertrophic cardiomyopathy was identified in 44 patients during the survey (0.29%), and 29 of these patients (0.19% of the 15,137 echocardiograms) had not been previously identified as having cardiac disease or HCM. At diagnosis, ages were 16 to 87 years (mean 57); 14 patients were > or = 60 years of age, and only two were < 30 years. Twenty-four patients (83%) had either no or only mild or transient symptoms; 5 (17%) evidenced severe functional limitation; in eight patients the onset of symptoms had been deferred until > or = 70 years of age. Basal left ventricular outflow obstruction (gradients 20 to 82 mm Hg) was evident in 11 patients (38%). Relatively mild phenotypic expression of the disease was substantiated by localized patterns of left ventricular wall thickening occurring more commonly than diffusely distributed hypertrophy (48% vs. 7%, respectively), and electrocardiograms that were frequently normal (about 25%) and rarely showed evidence of left ventricular hypertrophy (10%). CONCLUSIONS: These prospectively assembled data show that HCM may remain clinically dormant and undetected within community-based rural populations for many years (often to advanced ages) with a not inconsequential prevalence similar to that of HCM in the general population.[1]


  1. Clinical profile of hypertrophic cardiomyopathy identified de novo in rural communities. Maron, B.J., Mathenge, R., Casey, S.A., Poliac, L.C., Longe, T.F. J. Am. Coll. Cardiol. (1999) [Pubmed]
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