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The distinction between normal right ventricular (RV) trabeculations from abnormal has been difficult. We evaluated whether RV volume and function are related to left ventricular (LV) noncompaction (NC) cardiomyopathy and clinical events. Trabeculations/possible LVNC by cardiac magnetic resonance imaging (cMRI) was retrospectively observed among 105 consecutive cases. We measured LV end-systolic (ES) noncompacted:compacted ratio, RV ejection fraction (EF), RV apical trabecular thickness, and RV end-diastolic (ED) noncompacted:compacted ratio. A control group of 40 subjects was also reviewed to assess the exploratory measures. Comparing those with LV ES noncompacted:compacted ratio ≥ 2, < 2, and the normal control group, adjusted means for RV apical trabecular thickness and RV ED noncompacted:compacted ratio were generated. Logistic regression was used to evaluate the association of composite events traditionally associated with LV NC with RV EF after adjustment for above covariates, cardiovascular risk factors, delayed enhancement, LV EF, and LV ES noncompacted:compacted ratio. Analysis of RV morphology found greater apical trabecular thickness among those with LV ES noncompacted:compacted ratio ≥ 2 as compared with LV ES noncompacted:compacted ratio < 2 or normal control group (31 ± 5 mm vs. 27 ± 2.6 mm vs. 22 ± 4 mm; p = 0.03 and p = 0.003, respectively). There was no difference between the groups in relation to the RV end-diastolic (ED) noncompacted:compacted ratio . Low RV EF and LV ES noncompacted:compacted ratio ≥ 2 had significant association with clinical events in this population even after adjusting for clinical and imaging parameters (p = 0.04 and p < 0.001, respectively). In conclusion, RV dysfunction in a morphologic LVNC population is strongly associated with adverse clinical events. LVNC is associated with increased trabeculations of the RV apex.

Background For patients with autosomal dominant hypercholesterolemia (ADH), it remains unclear whether differences exist in the risk of premature coronary heart disease (CHD) between patients with confirmed mutations in low-density lipoprotein receptor (LDLR) vs those without detectable mutations. Objective This study sought to assess the risk of premature CHD in ADH patients with mutations in LDLR (referred to as Familial Hypercholesterolemia, FH) vs those without detectable mutations (unexplained ADH), stratified by sex. Methods Comparative study of premature CHD in a multiethnic cohort of 111 men and 165 women meeting adult Simon-Broome criteria for ADH. Results Women with FH (n = 51) had an increased risk of premature CHD compared to unexplained ADH women (n = 111) (hazard ratio [HR] 2.74 [95% CI: 1.40, 5.34], p = 0.003) even after adjustment for lipid levels and traditional CHD risk factors (HR 2.53 [1.10, 5.83], p = 0.005). Men with FH (n = 42), in contrast, had a similar risk of premature CHD when compared to unexplained ADH men (n = 66) (unadjusted: HR 1.48 [0.84, 2.63], p = 0.18; adjusted: HR 1.04 [0.46, 2.37] p = 0.72). To address whether mutation status provides additional information beyond LDL-C level, we analyzed premature CHD risk for FH vs unexplained ADH at each quartile of LDL-C: the findings were significant for women (Q1: HR 4.90 [1.69-14.19]; Q2: HR 3.44 [1.42-8.32]; Q3: HR 2.79 [1.25-6.23]; Q4: HR 1.99 [0.95-4.17]), but not for men. Conclusion Our findings suggest that genetic confirmation of ADH may be important to identify patient's risk of CHD, especially for female LDLR mutation carriers.

Introduction: Patients with familial hypercholesterolemia (FH) suffer from premature coronary heart disease (CHD) due to extreme elevations in low-density lipoprotein cholesterol (LDL-C). As such, they require high doses of potent statins, a major risk factor for developing statin-induced myopathy. Little is known, though, about other underlying factors predisposing them to statin-induced myopathy. Methods: We studied 272 genetically screened FH patients - ascertained from Dallas, TX, lipid specialty clinics - with and without a documented history of statin-induced myopathy (defined as developing muscle symptoms or elevated serum creatine kinase (CK) levels while taking a statin). Results: Statin-induced myopathy was diagnosed in 35% of FH patients; however, at the time of participation in our study, 73% of myopathy patients were taking statins (vs 79% of statin-tolerant patients; p = 0.37). Statin dosages were similar in the two groups except for rosuvastatin (20 mg/day in myopathy patients vs 40 mg/day in statin-tolerant patients; p < 0.001). Myopathy patients were older (57 ± 11 vs 51 ± 14 years; p = 0.001), had lower BMI (29 ± 6 vs 31 ± 7 kg/m2; p = 0.01), suffered from less premature CHD (22% vs 34%; p = 0.006), and had less hypertension (57% vs 67%; p = 0.05). On-treatment LDL-C was higher in myopathy patients (141 ± 37, n = 63, vs 128 ±40 mg/dL, n= 148; p < 0.01). No differences were identified in pretreatment LDL-C (253 ± 53 vs 263 ± 83 mg/dL; p = 0.57), gender (63% vs 57 % female; p = 0.3), % with diabetes (23% vs 29%; p = 0.38), % with LDL-receptor or apolipoprotein B mutations (26% vs 36%; p = 0.09), or baseline CK levels (median 103 vs 115; p = 0.10). Conclusions: Despite a history of statin-induced myalgia, most FH patients eventually tolerated statins and achieved up to 44% reduction in LDL-C levels. FH patients with increased age and lower BMI were more likely to be diagnosed with myopathy, consistent with prior reports that age and smaller body frame are risk factors. Also, FH patients lacking hypertension or premature CHD were diagnosed more often with myopathy, suggesting that patients without CHD risk factors complain more about muscle symptoms. In conclusion, statin-induced myopathy adds an additional - but manageable - challenge to the treatment of FH patients.

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