Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin t genes in hypertrophic cardiomyopathy
A comprehensive outpatient perspective
Michael J. Ackerman, MD, PhD*  ,*,
Sara L. VanDriest, BA,
Steve R. Ommen, MD, FACC*,
Melissa L. Will, BS*,
Rick A. Nishimura, MD, FACC*,
A. Jamil Tajik, MD, FACC* and
Bernard J. Gersh, MB, ChB, DPhil, FACC*
* Department of Internal Medicine/Division of Cardiovascular DiseasesRochester, Minnesota, USA
Pediatric and Adolescent Medicine/Division of Pediatric CardiologyRochester, Minnesota, USA
Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota, USA
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Figure 1 Morphology of hypertrophic cardiomyopathy (HCM). Anatomical phenotype of HCM seen in this cohort is depicted. A total of 155 of the patients (53%) had HCM characterized by asymmetric septal hypertrophy and left ventricular outflow tract obstruction (LVOTO). Apical = no gradient and hypertrophy predominantly in the distal one-third of the left ventricle (LV); HCM with LVOTO = resting gradient >50 mm Hg; Mid-cavitary obstruction = dynamic obstruction at the level of papillary muscle head or deeper within the LV cavity; Labile = resting gradient <50 mm Hg but provokable to >50 mm Hg with either Valsalva maneuver or amyl nitrite; Non-obstructive = no obstruction present at rest or with provocation.
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Figure 2 "Malignant" mutation detection by denaturing high-performance liquid chromatography. Depicted are the elution profiles for normal samples and the "malignant" mutations identified in exon 14 (A), exon 19 (B) of the cardiac beta-myosin heavy chain (MHY7) gene and exon 9 (C) of the troponin T (TNNT2) gene.
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