Deep basal inferoseptal crypts occurred more frequently in HCM patients with disease-causing mutations than those without (36% vs 4%; P<0.001), strongly predicting mutation presence (OR 6.64).
Observational (n=300)
Blinded to genetic status
Does the presence of deep basal inferoseptal crypts on cardiac MRI predict disease-causing gene mutations in patients with hypertrophic cardiomyopathy?
Deep basal inferoseptal crypts identified on cardiac MRI are a strong morphological predictor of underlying disease-causing mutations in patients with hypertrophic cardiomyopathy.
Effect estimate: OR 6.64 (95% CI 2.631-16.755)
Absolute Event Rate: 36% vs 4%
p-value: p=<.001
PURPOSE: To determine the relationship between deep basal inferoseptal crypts and disease-causing gene mutations in hypertrophic cardiomyopathy (HCM). MATERIALS AND 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. CONCLUSION: Deep basal inferoseptal crypts occur more commonly in patients with HCM with disease-causing mutations than in those with genotype-negative HCM.
Deva et al. (Sat,) conducted a observational in Hypertrophic cardiomyopathy (n=300). Disease-causing mutations vs. No disease-causing mutations was evaluated on Presence of deep basal inferoseptal crypts (OR 6.64, 95% CI 2.631-16.755, p=<.001). Deep basal inferoseptal crypts occurred more frequently in HCM patients with disease-causing mutations than those without (36% vs 4%; P<0.001), strongly predicting mutation presence (OR 6.64).