title: Multiple myocardial crypts on modified long-axis view are a specific finding in pre-hypertrophic HCM mutation carriers.
abstract: OBJECTIVE
  Crypts can be found with cardiovascular magnetic resonance imaging (CMR) in hypertrophic cardiomyopathy (HCM) mutation carriers without hypertrophy (carriers) using a modified two-chamber view through the inferoseptum, but also in other patients and healthy individuals with standard long-axis views. Since it is currently unknown if carriers display a specific crypt morphology, we compared crypts in carriers with other cardiac pathologies (controls). Besides, we aimed to determine the optimal imaging plane for the detection of crypts by comparing modified two-chamber views with standard long-axis views. Finally, we evaluated the accuracy of crypts to identify carriers in HCM family screening.
  
  
  RESULTS
  Standard CMR long-axis views with additional modified two-chamber views were prospectively performed in carriers (n= 43), consecutive CMR control patients (n= 252), and mutation-negative family members (n= 15). Crypts were found in 70% (30/43) of carriers and in 12% (31/252) of controls (P< 0.001). Crypts in carriers showed deeper penetrance into the myocardium compared with controls (74 ± 21% vs. 59 ± 22%, P< 0.01). Detection of two or more crypts had a sensitivity of 51% and specificity of 94% for carriership. Modified two-chamber views doubled the sensitivity to detect crypts compared with standard long-axis views. In family screening, ≥2 crypts had a 100% positive predictive value to identify carriers.
  
  
  CONCLUSIONS
  Multiple crypts in the absence of left ventricular hypertrophy are highly specific for HCM mutation carriership and warrant clinical follow-up. A modified two-chamber view has a superior sensitivity compared with standard long-axis views for crypt detection. CMR may be of additional value to identify carriers in family screening.
authors.affiliation: Department of Cardiology, VU University Medical Center, De Boelelaan 1117, Amsterdam, The Netherlands. w.brouwer@vumc.nl
authors.forename: Wessel P
authors.initials: WP
authors.lastname: Brouwer
authors.forename: Tjeerd
authors.initials: T
authors.lastname: Germans
authors.forename: Maaike C
authors.initials: MC
authors.lastname: Head
authors.forename: Jolanda
authors.initials: J
authors.lastname: van der Velden
authors.forename: Martijn W
authors.initials: MW
authors.lastname: Heymans
authors.forename: Imke
authors.initials: I
authors.lastname: Christiaans
authors.forename: Arjan C
authors.initials: AC
authors.lastname: Houweling
authors.forename: Arthur A
authors.initials: AA
authors.lastname: Wilde
authors.forename: Albert C
authors.initials: AC
authors.lastname: van Rossum
mesh_terms: D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000473:pathology; D016009:Chi-Square Distribution; D016001:Confidence Intervals; D005260:Female; D006352:Heart Ventricles; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009206:Myocardium / Q000473:pathology*; D010375:Pedigree; D011237:Predictive Value of Tests; D012372:ROC Curve; D013223:Statistics as Topic; D018709:Statistics, Nonparametric; D013997:Time Factors