Case Report of Left Ventricular Noncompaction Cardiomyopathy Characterized by Undulating Phenotypes in Adult Patients.

Left ventricular noncompaction cardiomyopathy (LVNC) is a heart muscle disorder morphologically characterized by reticulated trabeculations and intertrabecular recesses in the left ventricular (LV) cavity. LVNC is a genetically and phenotypically heterogeneous condition, which has been increasingly recognized with the accumulation of evidence provided by genotype-phenotype correlation analyses. Here, we report 2 sporadic adult cases of LVNC; both developed acute heart failure as an initial clinical manifestation and harbored causal sarcomere gene mutations. One case was a 57-year-old male with digenic heterozygote mutations, p.R1344Q in myosin heavy chain 7 (MYH7) and p.R144W in troponin T2, cardiac type (TNNT2), who showed morphological characteristics of LVNC in the lateral to apical regions of the LV together with a comorbidity of non-transmural myocardial infarction, resulting from a coronary artery stenosis. After the removal of ischemic insult and standard heart failure treatment, LVNC became less clear, and LV function gradually improved. The other case was a 36-year-old male with a heterozygote mutation, p.E334K in myosin binding protein C3 (MYBPC3), who exhibited cardiogenic shock on admission with morphological characteristics of LVNC being most prominent in the apical segment of the LV. The dosage of beta-blocker was deliberately increased in an outpatient clinic over 6 months following hospitalization, which remarkably improved the LV ejection fraction from 21% to 54.3%. Via a combination of imaging and histopathological and genetic tests, we have found that these cases are not compatible with a persistent phenotype of primary cardiomyopathy, but their morphological features are changeable in response to treatment. Thus, we point out phenotypic plasticity or undulation as a noticeable element of LVNC in this case report.

Three-dimensional quantitative analysis of humeral head and glenoid bone defects with recurrent glenohumeral instability.

BACKGROUND: Although bone defects of the humeral head and glenoid could affect glenohumeral instability, bone loss has not been sufficiently evaluated. The purpose of this study was to quantify bone defects 3-dimensionally in cases with glenohumeral instability. METHODS: Three-dimensional surface models of bilateral proximal humeri and glenoids were reconstructed from computed tomography scans of 90 patients with symptomatic, unilateral, recurrent glenohumeral instability. The left-side models were mirrored, and intact bone areas were matched to those of the right-side models. The volume, length, width, and depth of identified bone defects were assessed. After the values were corrected by patient height, the characteristics of the bone defects were evaluated. RESULTS: Bone defects were present in 97.8% of the humeral heads and 96.7% of the glenoids, and women had significantly smaller bone defects than men did. The volume of humeral head defects had a mild correlation with that of glenoid defects. The number of traumatic episodes was not correlated with humeral head bone defects, but it was positively correlated with glenoid bone defects. Patients with recurrent dislocations had significantly deeper and larger Hill-Sachs lesions than the other cases. CONCLUSION: Bone defects of the humeral head and the glenoid in cases with symptomatic traumatic glenohumeral instability were quantified 3-dimensionally using a computed tomography surface-matching technique. Almost all cases showed bone defects in the humeral head and glenoid compared with the intact shoulder, and such bone defects may be more common than previously reported. This study suggested that bipolar bone lesions are not always created by the same mechanism.