Echocardiographic determination of pulmonary arterial capacitance.

A growing body of evidence has demonstrated that pulmonary arterial capacitance (PAC) is the strongest hemodynamic predictor of clinical outcomes across a wide spectrum of cardiovascular disease, including pulmonary hypertension and heart failure. We hypothesized that a ratio of right ventricular stroke volume (RVOT VTI) to the associated peak arterial systolic pressure (PASP) could function as a reliable non-invasive surrogate for PAC. We performed a prospective study of patients undergoing simultaneous transthoracic echocardiography and right heart catheterization (RHC) for various clinical indications. Measurements of the RVOT VTI/PASP ratio from echocardiographic measurements were compared against PAC calculated from RHC measurements. Correlation coefficients and Bland-Altman analysis compared the RVOT VTI/PASP ratio with PAC. Forty-five subjects were enrolled, 38% were female and mean age was 54 years (SD 13 years). The reason for referral to RHC was most commonly post-heart transplant surveillance (40%), followed by heart failure (22%), and pulmonary hypertension (18%). Pre-capillary pulmonary hypertension was present in 18%, isolated post-capillary pulmonary hypertension was present in 13%, and combined pre-and post-capillary pulmonary hypertension was present in 29%. The RVOT VTI/PASP ratio was obtainable in the majority of patients (78%), and Pearson's correlation demonstrated moderately-strong association between PAC and the RVOT VTI/PASP ratio, r = 0.75 (P < 0.001). Bland-Altman analysis demonstrated good agreement between measurements without suggestion of systematic bias and a mean difference in standardized units of - 0.133. In a diverse population of patients and hemodynamic profiles, we validated that the ratio of RVOT VTI/PASP to be a reliably-obtained non-invasive marker associated with PAC.

A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome.

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a familial form of cardiomyopathy typically caused by mutations in genes that encode an element of the cardiac desmosome. Branchio-oculo-facial syndrome (BOFS) is a craniofacial disorder caused by TFAP2A mutations. In a family segregating ARVD/C, some members also had features of BOFS. Genetic testing for ARVD/C identified a mutation in PKP2, encoding plakophilin-2, a component of the cardiac desmosome. Evaluation of dysmorphology by chromosome microarray (CMA) identified a 4.4 Mb deletion at chromosome 6p24 that included both TFAP2A and DSP, encoding desmoplakin, an additional component of the cardiac desmosome implicated in ARVD/C. A family member with both the 6p24 deletion and PKP2 mutation had more severe cardiac dysfunction. These findings suggest that this contiguous gene deletion contributes to both ARVD/C and BOFS, and that DSP haploinsufficiency may contribute to cardiomyopathy. This family provides a clinical example that underscores the need for careful evaluation in clinical scenarios where genetic heterogeneity is known to exist. Finally, it suggests that individuals with unexplained cardiomyopathy and dysmorphic facial features may benefit from CMA analysis.

Guidelines for implant placement to minimize impingement during activities of daily living after total hip arthroplasty.

Impingement, both prosthetic and bony, precedes the vast majority of dislocations after total hip arthroplasty and may adversely impact component wear. Reconstructed computer hip models of 8 subjects were used to evaluate hip range of motion for activities of daily living (ADLs) associated with posterior instability and anterior instability. Variables examined included acetabular position, femoral offset, and head size. The majority of flexion ADLs (associated with posterior instability) encountered prosthetic impingement, whereas extension ADLs demonstrated bony impingement with the 45/20 cup placement position. Cup placement in natural anteversion and adduction allowed normal joint motion in anterior and posterior impinging activities. Insufficient femoral offset and smaller head size negatively impacted range of motion. Any anterior cup and posterior cup protrusions greater than 5 mm should be avoided.

Cell type and distribution in the porcine temporomandibular joint disc.

PURPOSE: Surprisingly little is known about the cellular composition of the temporomandibular joint (TMJ) disc, which is a crucial piece of the puzzle in tissue engineering efforts. Toward this end, cell types were identified and quantified regionally in the TMJ disc. MATERIALS AND METHODS: Porcine TMJ discs were examined by histology, electron microscopy, and immunohistochemistry. Histology consisted of hematoxylin and eosin staining to identify regional variation of cell type and cell numbers. Transmission electron microscopy was used to elucidate differences in organelle content and pericellular matrix between TMJ disc cells and chondrocytes from hyaline cartilage. Immunohistochemistry was used to assess the presence of smooth and skeletal muscle character in the TMJ disc. RESULTS: The overall ratio of fibroblasts to chondrocyte-like cells in the TMJ disc was approximately 2.35 to 1, with the highest relative number of chondrocyte-like cells in the intermediate zone. Electron microscopy revealed distinct differences between TMJ disc chondrocyte-like cells and chondrocytes from hyaline cartilage with respect to organelles and the pericellular region. Immunostaining identified smooth muscle in the form of vessels, which were most prominent in the anterior band. Skeletal muscle was not observed. CONCLUSION: The cells of the TMJ disc are distinctly different from cells of hyaline cartilage, and consequently should not be referred to as chondrocytes. TMJ disc cells are comprised of heterogeneously distributed subpopulations, with fibroblasts predominating over fibrochondrocytes.