Association of Socioeconomic Status and Infarct Volume With Functional Outcome in Patients With Ischemic Stroke.

Importance: Long-term disability after stroke is associated with socioeconomic status (SES). However, the reasons for such disparities in outcomes remain unclear. Objective: To assess whether lower SES is associated with larger admission infarct volume and whether initial infarct volume accounts for the association between SES and long-term disability. Design, Setting, and Participants: This cohort study was conducted in a prospective, consecutive population (n = 1256) presenting with acute ischemic stroke who underwent magnetic resonance imaging (MRI) within 24 hours of admission. Patients were recruited in Massachusetts General Hospital, Boston, from May 31, 2009, to December 31, 2011. Data were analyzed from May 1, 2019, until June 30, 2020. Main Outcomes and Measures: Initial stroke severity (within 24 hours of presentation) was determined using clinical (National Institutes of Health Stroke Scale [NIHSS]) and imaging (infarct volume by diffusion-weighted MRI) measures. Stroke etiologic subtypes were determined using the Causative Classification of Ischemic Stroke algorithm. Long-term stroke disability was measured using the modified Rankin Scale. Socioeconomic status was estimated using zip code-derived median household income and census block group-derived area deprivation index (ADI). Regression and mediation analyses were performed. Results: A total of 1098 patients had imaging and SES data available (mean [SD] age, 68.1 [15.7] years; 607 men [55.3%]). Income was inversely associated with initial infarct volume (standardized ß, -0.074 [95% CI, -0.127 to -0.020]; P = .007), initial NIHSS (standardized ß, -0.113 [95% CI, -0.171 to -0.054]; P < .001), and long-term disability (standardized ß, -0.092 [95% CI, -0.149 to -0.035]; P = .001), which remained significant after multivariable adjustments. Initial stroke severity accounted for 64% of the association between SES and long-term disability (standardized ß, -0.063 [95% CI, -0.095 to -0.029]; P < .05). Findings were similar when SES was alternatively assessed using ADI. Conclusions and Relevance: The findings of this cohort study suggest that lower SES is associated with larger infarct volumes on presentation. These SES-associated differences in initial stroke severity accounted for most of the subsequent disparities in long-term disability in this study. These findings shift the culpability for SES-associated disparities in poststroke disability from poststroke factors to those that precede presentation.

Left-dominant arrhythmogenic cardiomyopathy: an association with desmoglein-2 gene mutation-a case report.

BACKGROUND: Desmosomes are specialized intercellular adhesive junctions of cardiac and epithelial cells that provide intercellular mechanical coupling through glycoproteins, one of which is desmoglein (DSG). DSG-2 mutations are frequently associated with biventricular arrhythmogenic cardiomyopathy (ACM). We report a case of left-dominant ACM in a patient who initially was misclassified as dilated cardiomyopathy (DCM). CASE SUMMARY: A 28-year-old-woman was found to have a moderately reduced left ventricular (LV) systolic function and frequent premature ventricular contractions (PVCs). Targeted genetic testing revealed a heterozygous likely pathogenic variant associated with ACM in exon 15 of the DSG-2 gene (c.3059_3062del; p.Glu1020Alafs*18). Subsequent cardiac magnetic resonance (CMR) imaging showed epicardial and mid-myocardial fatty infiltration involving multiple LV wall segments, multiple areas of mid-myocardial fibrosis/scar, regional dyskinesis involving both ventricles, and an overall reduced left ventricular ejection fraction. The patient's right ventricular (RV) cavity size and overall RV systolic function were normal. Based on the patient's frequent PVCs, family history, fibrofatty myocardial replacement in multiple LV segments, and dyskinetic motion of multiple ventricular wall segments (predominantly affecting the LV), the patient was diagnosed with left-dominant ACM. DISCUSSION: Identifying a likely pathogenic mutation associated with ACM in a patient with ventricular arrhythmias and a family history of sudden cardiac death increased the possibility of ACM. Subsequent CMR imaging confirmed the diagnosis of left-dominant ACM by demonstrating regional biventricular dyskinesia and a characteristic pattern of fibrofatty myocardial replacement. Our case highlights the importance of targeted genetic testing and advanced cardiac imaging in distinguishing left-dominant ACM from DCM.

Augmentation index and aortic stiffness in bicuspid aortic valve patients with non-dilated proximal aortas.

BACKGROUND: We compared aortic stiffness, aortic impedance and pressure from wave reflections in the setting of bicuspid aortic valve (BAV) to the tricuspid aortic valve (TAV) in the absence of proximal aortic dilation. We hypothesized BAV is associated with abnormal arterial stiffness. METHODS: Ten BAV subjects (47 ± 4 years, 6 male) and 13 TAV subjects (46 ± 4 years, 10 male) without significant aortic valve disease were prospectively recruited. Characteristic impedance (Zc) was derived from echocardiographic images and pulse wave Doppler of the left ventricular outflow tract. Applanation tonometry was performed to obtain pulse wave velocity (PWV) at several sites as measures of arterial stiffness and augmentation index (AIx) as a measure of wave reflection. RESULTS: There were no significant differences between BAV and TAV subjects with regard to heart rate or blood pressure. Zc was similar between BAV and TAV subjects (p=0.25) as was carotid-femoral pulse wave velocity (cf-PWV) and carotid-radial PWV (cr-PWV) between BAV and TAV subjects (p=0.99). Carotid AIx was significantly higher in BAV patients compared with TAV patients (14.3 ± 4.18% versus -3.02 ± 3.96%, p=0.007). CONCLUSIONS: Aortic stiffness and impedance is similar between subjects with BAV and TAV with normal aortic dimensions. The significantly higher carotid AIx in BAV, a proxy of increased pressure from wave reflections, may reflect abnormal vascular function distal to the aorta.

Exercise-induced acute changes in systolic blood pressure do not alter choroidal thickness as measured by a portable spectral-domain optical coherence tomography device.

PURPOSE: To measure choroidal thickness in patients manifesting an acute change in systemic arterial blood pressure using a portable spectral-domain optical coherence tomography device (iVue). METHODS: Fifteen patients (15 eyes) undergoing cardiac exercise stress testing were scanned using a portable spectral-domain optical coherence tomography system (iVue). Two scan protocols were used: cross line scan for measuring choroidal thickness and the retina map scan to measure retinal thickness. Each patient was scanned before and within 3 minutes after the stress test. Blood pressure was measured at the same time as the acquisition of the scans. Choroidal thickness was measured from the posterior edge of the retinal pigment epithelium to the choroid-sclera junction at 500-µm intervals up to 1,000 µm temporal and nasal to the fovea. Retinal thickness was measured by an automated software. All choroidal thickness measurements were performed by two independent observers. RESULTS: Fifteen patients (15 eyes) with a mean age of 60.6 (±10.4 years) were scanned. There was a significant increase in systolic but not diastolic pressure after stress testing (P < 0.05). The mean choroidal thickness measurements showed no significant difference before and after exercise stress testing (P > 0.05). In addition, there was no significant difference in retinal thickness before and after stress testing measurements (P > 0.05). CONCLUSION: There was no change in choroidal thickness or retinal thickness, despite an acute change in the systemic systolic blood pressure induced by exercise.

Percutaneous left ventricular support in cardiogenic shock and severe aortic regurgitation.

Severe aortic regurgitation (AR) is a well-established contraindication to intra-aortic balloon counterpulsation therapy. We report two cases of medically refractory cardiogenic shock in patients with severe AR who were successfully bridged to surgical left ventricular assist device implantation by percutaneous left atrial to femoral artery mechanical bypass. Further investigation into the clinical utility of percutaneous mechanical support in the setting of AR and shock is required.

Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia.

Patients with fibromuscular dysplasia (FMD) may have clinical features consistent with Mendelian vascular connective tissue disorders. The yield of genetic testing for these disorders among patients with FMD has not been determined. A total of 216 consecutive patients with FMD were identified. Clinical characteristics were collected and genetic test results reviewed for abnormalities in the following genes: transforming growth factor-ß receptor 1 and 2 (TGFßR1 and TGFßR2), collagen 3A1, fibrillin-1, smooth muscle α-actin 2, and SMAD3. A total of 63 patients (63/216; 29.2%) were referred for genetic counseling with testing performed in 35 (35/63; 55.6%). The percentage of patients with a history of arterial or aortic dissection, history of aortic aneurysm, systemic features of a connective tissue disorder, and a family history of sudden death was significantly larger in the group that underwent genetic testing (62.9% vs 18.2%, p < 0.001; 8.6% vs 1.7%, p = 0.02; 51.4% vs 17.1%, p < 0.001; and 42.9% vs 22.7%, p = 0.04, respectively). Two patients were found to have distinct variants in the TGFßR1 gene (c.611 C>T, p.Thr204lle and c.1285 T>C, p.Tyr429His). The yield of genetic testing for vascular connective tissue disorders was low in a high-risk subset of FMD patients. However, two patients with a similar phenotype had novel and distinct variants in the TGFßR1 gene, a finding which merits further investigation.