title: Deep basal inferoseptal crypts occur more commonly in patients with hypertrophic cardiomyopathy due to disease-causing myofilament mutations.
abstract: OBJECTIVE
  To determine the relationship between deep basal inferoseptal crypts and disease-causing gene mutations in hypertrophic cardiomyopathy (HCM).
  
  
  METHODS
  Institutional research and ethics board approval was obtained for this retrospective study, and the requirement to obtain informed consent was waived. Two readers, who were blinded to genetic status, independently assessed cardiac magnetic resonance (MR) images obtained in 300 consecutive unrelated genetically tested patients with HCM. Readers documented the morphologic phenotype, the presence of deep basal inferoseptal crypts, and the imaging plane in which crypts were first convincingly visualized. The Student t test, the Fisher exact test, and multivariate logistic regression were used for comparisons and to evaluate the relationship between these crypts and the detection of disease-causing mutations.
  
  
  RESULTS
  The frequency of deep basal inferoseptal crypts was significantly higher in patients with disease-causing mutations than in those without disease-causing mutations (36% and 4%, respectively; P < .001). The presence of crypts was a stronger predictor of disease-causing mutations than was reverse septal curvature (P = .025). Patients with these crypts had a higher likelihood of having disease-causing mutations than non-disease-causing mutations (P < .001). Thirty-one of the 34 patients with both deep basal inferoseptal crypts and reverse septal curvature (91%) had disease-causing mutations (sensitivity, 26%; specificity, 98%). The presence of deep basal inferoseptal crypts (odds ratio: 6.64; 95% confidence interval: 2.631, 16.755; P < .001) and reverse septal curvature (odds ratio: 4.8; 95% confidence interval: 2.552, 9.083; P < .001) were predictive of disease-causing mutations. Both observers required additional imaging planes to identify approximately half of all crypts.
  
  
  CONCLUSIONS
  Deep basal inferoseptal crypts occur more commonly in patients with HCM with disease-causing mutations than in those with genotype-negative HCM.
authors.affiliation: Department of Medical Imaging and Division of Cardiology, Peter Munk Cardiac Centre, Toronto General Hospital, University of Toronto, 585 University Ave, 1c-544 NCSB, Toronto, ON, Canada M5G 2N2.
authors.forename: Djeven Parameshvara
authors.initials: DP
authors.lastname: Deva
authors.forename: Lynne K
authors.initials: LK
authors.lastname: Williams
authors.forename: Melanie
authors.initials: M
authors.lastname: Care
authors.forename: Katherine A
authors.initials: KA
authors.lastname: Siminovitch
authors.forename: Hadas
authors.initials: H
authors.lastname: Moshonov
authors.forename: Bernd Juergen
authors.initials: BJ
authors.lastname: Wintersperger
authors.forename: Harry
authors.initials: H
authors.lastname: Rakowski
authors.forename: Andrew Michael
authors.initials: AM
authors.lastname: Crean
mesh_terms: D024722:Cardiac Myosins / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006346:Heart Septum / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000706:statistics & numerical data*; D008297:Male; D008875:Middle Aged; D018995:Myosin Heavy Chains / Q000235:genetics*; D009864:Ontario / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D012307:Risk Factors
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains