Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations

Iacopo Olivotto, Francesca Girolami, Roberto Sciagr, Michael J. Ackerman, Barbara Sotgia, J. Martijn Bos, Stefano Nistri, Aurelio Sgalambro, Camilla Grifoni, Francesca Torricelli, Paolo G. Camici, Franco Cecchi

Research output: Contribution to journalArticlepeer-review


Objectives: The purpose of this study was to assess myocardial blood flow (MBF) using positron emission tomography in patients with hypertrophic cardiomyopathy (HCM) according to genetic status. Background: Coronary microvascular dysfunction is an important feature of HCM, associated with ventricular remodeling and heart failure. We recently demonstrated the increased prevalence of systolic dysfunction in patients with HCM with sarcomere myofilament gene mutations and postulated an association between genetic status and coronary microvascular dysfunction. Methods: Maximum MBF (intravenous dipyridamole, 0.56 mg/kg; Dip-MBF) was measured using 13N-labeled ammonia in 61 patients with HCM (age 38 ± 14 years), genotyped by automatic DNA sequencing of 8 myofilament-encoding genes (myosin-binding protein C, beta-myosin heavy chain, regulatory and essential light chains, troponin T, troponin I, troponin C, alpha-tropomyosin, and alpha-actin). In 35 patients, cardiac magnetic resonance imaging was performed. Results: Fifty-three mutations were identified in 42 of the 61 patients (genotype positive; 69%). Despite similar clinical profiles, genotype-positive patients with HCM showed substantially lower Dip-MBF compared with that of genotype-negative patients (1.7 ± 0.6 ml/min/g vs. 2.4 ± 1.2 ml/min/g; p <0.02). A Dip-MBF

Original languageEnglish
Pages (from-to)839-848
Number of pages10
JournalJournal of the American College of Cardiology
Issue number8
Publication statusPublished - Aug 16 2011


  • genetic testing
  • hypertrophic cardiomyopathy
  • microvascular dysfunction
  • positron emission tomography

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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