Acute cardiogenic shock secondary to blunt traumatic aortic valve injury.

Background: Blunt cardiac injuries rarely result in aortic valve cusp rupture, leading to acute aortic insufficiency and cardiogenic shock. This rare clinical entity carries a high mortality rate if left undiagnosed and not managed surgically, with few patients surviving beyond 24 h. It presents a diagnostic challenge in the polytrauma patient in shock, with multiple possible and complementary etiologies. Case presentation: We present a 56-year-old male with persistent hypotension, a wide pulse pressure, and elevated serum troponin levels suggesting blunt cardiac injury after a motor vehicle accident. Transthoracic and transesophageal echocardiography revealed normal biventricular function but severe aortic insufficiency due to prolapse of the left coronary cusp.He was taken emergently to surgery, where aortic valve exploration revealed complete left coronary cusp avulsion from the aortic annulus with a mid-cusp tear, requiring aortic valve replacement with a bioprosthetic valve. Postoperative echocardiography showed normal biventricular function with a well-seated bioprosthetic aortic valve with no insufficiency. Conclusions: Traumatic aortic valve injury can lead to torn or prolapsed cusps causing acute aortic insufficiency leading to cardiogenic shock, but early recognition with appropriate and targeted diagnostic imaging is vital to prevent rapid patient deterioration and demise.

Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse.

AIMS: Mitral valve prolapse (MVP) is a common valvular heart disease with a prevalence of >2% in the general adult population. Despite this high incidence, there is a limited understanding of the molecular mechanism of this disease, and no medical therapy is available for this disease. We aimed to elucidate the genetic basis of MVP in order to better understand this complex disorder. METHODS AND RESULTS: We performed a meta-analysis of six genome-wide association studies that included 4884 cases and 434 649 controls. We identified 14 loci associated with MVP in our primary analysis and 2 additional loci associated with a subset of the samples that additionally underwent mitral valve surgery. Integration of epigenetic, transcriptional, and proteomic data identified candidate MVP genes including LMCD1, SPTBN1, LTBP2, TGFB2, NMB, and ALPK3. We created a polygenic risk score (PRS) for MVP and showed an improved MVP risk prediction beyond age, sex, and clinical risk factors. CONCLUSION: We identified 14 genetic loci that are associated with MVP. Multiple analyses identified candidate genes including two transforming growth factor-ß signalling molecules and spectrin ß. We present the first PRS for MVP that could eventually aid risk stratification of patients for MVP screening in a clinical setting. These findings advance our understanding of this common valvular heart disease and may reveal novel therapeutic targets for intervention.

Left atrial appendage morphology predicts the formation of left atrial appendage thrombus.

BACKGROUND: Nonchicken wing left atrial appendage (LAA) morphology is associated with higher risk for stroke in patients with atrial fibrillation (AF) than chicken wing (CW) morphology. OBJECTIVE: Assess whether LAA morphology predicts the formation of LAA thrombus independent of age, sex, presenting rhythm, left ventricular ejection fraction (LVEF), or anticoagulant use. METHODS: A cross-sectional analysis was performed on patients prospectively enrolled in the Vanderbilt LAA Registry or presenting for transesophageal echocardiogram (TEE) between January 1, 2015, and November 1, 2017 (n = 306). Two physicians independently reviewed TEEs interpreted as having LAA thrombus. Determination of LAA morphology, ejection velocity, and presence of thrombus (n = 102) were based on 0°, 45°, 90°, and 135° TEE views. The control cohort (n = 204) included consecutive AF patients undergoing TEE without LAA thrombus. RESULTS: LAA morphology in patients with LAA thrombus was: 35% windsock, 47% broccoli, and 12% CW. Windsock (odds ratio [OR], 4.0; 95% confidence interval [CI]: 1.7-9.3, p = .001) and broccoli (OR, 6.6; 95% CI: 2.6-16.6; p < .001) morphology were higher risk for thrombus compared to CW. Female sex predicted higher-odds for LAA thrombus (OR, 2.6; 95% CI: 1.4-4.8; p = .002) as did LAA-EV < 20 cm/s (OR, 11.12; 95% CI: 5.6-22.1). Anticoagulation use (OR, 0.5; 95% CI: 0.3-0.9; p = .03) and higher LVEF (OR, 0.95; 95% CI: 0.93-0.98; p < .001) were associated with lower risk. In patients with a CW morphology who had LAA thrombus, 4 of the 7 had an LAA-EV < 20 cm/s and acute systolic heart failure with LVEF < 30% or active malignancy. In multivariable linear regression analysis controlling for presenting rhythm, anticoagulant use, age, sex, and LVEF, CW morphology appears relatively protective from LAA thrombus (p = .001). CONCLUSION: CW LAA morphology appears relatively protective against the formation of LAA thrombus.