Meaghan Beattie, MD

Abstract

We aimed to examine clinical features and outcomes of consecutive molecularly characterized patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy.A retrospective, longitudinal multicenter cohort of consecutive children and adults with a genetic diagnosis of Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy between 2002 and 2019 was assembled. We defined a priori 3 different patterns of left ventricular remodeling during follow-up: (1) an increase in 15% of the maximal left ventricular wall thickness (MLVWT), both in mm and z-score (progression); (2) a reduction 15% of the MLVWT, both in mm and z-score (absolute regression); (3) a reduction 15% of the MLVWT z-score with a stable MLVWT in mm (relative regression). The primary study end point was a composite of cardiovascular death, heart transplantation, and appropriate implantable cardioverter defibrillator-shock.The cohort comprised 42 patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy, with a median age at diagnosis of 3.5 (interquartile range, 0.2-12.3) years. Freedom from primary end point was 92.7% (95% CI, 84.7%-100%) 1 year after presentation and 80.9% (95% CI, 70.1%-90.7%) at 5 years. Patients with MLVWT z-score >13.7 showed reduced survival compared with those with <13.7. During a median follow-up of 3.7 years (interquartile range, 2.6-7.9), absolute regression was the most common type of left ventricular remodeling (n=9, 31%), followed by progression (n=6, 21%), and relative regression (n=6, 21%).These findings provide insights into the natural history of left ventricular hypertrophy, and can help inform clinicians regarding risk stratification and clinical outcomes in patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy.

View details for DOI 10.1161/CIRCGEN.122.003861

View details for PubMedID 37199218

Abstract

Transthoracic echocardiography (TTE) is an essential tool for diagnosis and management of congenital heart disease. Pediatric echocardiography presents unique challenges including complex anatomy, variable patient cooperation and provider expertise. Diagnostic errors inevitably occur. We designed a collaborative and stepwise quality improvement (QI) process to address diagnostic errors within our laboratory. We retrospectively reviewed medical records to identify diagnostic TTE errors in 100 consecutive cardiac surgery patients 5 years old (July 2020-January 2021). We identified 18 diagnostic errors. Most errors had minor impact (14/18), and 13 were preventable or possibly preventable. We presented these results to our sonographers and faculty and requested input on preventing and managing diagnostic errors. Our root cause analysis based on their responses yielded 7 areas for improvement (imaging, reporting, systems, time, environment, people, QI processes). Our faculty and sonographers chose QI processes and imaging as initial areas for intervention. We defined our SMART goal as a 10% reduction in diagnostic errors. We implemented interventions focused on QI processes. On initial follow up in May 2022, we identified 7 errors in 70 patients (44% reduction in error rate). Utilizing a stepwise and team-based approach, we successfully developed QI initiatives in our echocardiography laboratory. This approach can serve as a model for a collaborative QI process in other institutions.

View details for DOI 10.3390/children9121845

View details for PubMedID 36553289

View details for PubMedCentralID PMC9776848

Abstract

Coarctation of the aorta (CoA) is the most common ductal-dependent lesion missed on neonatal exam screening. Prenatal diagnosis of CoA improves outcomes through early initiation of prostaglandin. Fetal echocardiographic parameters including 2D and Doppler findings have been studied as predictive measures for fetal diagnosis of CoA, but diagnosis rates remain variable. A comprehensive set of predictor variables was applied to fetuses suspected of CoA to analyze which parameters were associated with postnatal CoA. UCSF Fetal Cardiovascular Program databases were queried for fetuses suspected of CoA (2008-2014). Retrospective measurements of aorta/pulmonary artery ratio (AoPA), LV/RV ratio, ascending aorta Z-score (AscAo), isthmus Z-score, isthmus/duct ratio (I/D), posterior "shelf" of descending aorta, and diastolic flow persistence at the isthmus were recorded. ROC analysis identified the parameters most predictive of postnatal CoA. Among 97 fetuses with probable CoA, 62 had complete follow-up. Of these fetuses, 45 (72.5%) had postnatal confirmation of CoA and 17 did not have CoA. The parameters most predictive of postnatal CoA included AscAo, isthmus Z-score, and I/D, with respective AUC of 0.80, 0.89, and 0.90. Diastolic flow persistence was seen more often in fetuses with postnatal CoA, but did not reach statistical significance. Combining 2D and Doppler criteria (AoPA<0.65 or diastolic flow persistence) improved sensitivity to 87%, but introduced several false positives. Isthmus imaging and AoPA ratio are useful predictors of CoA. Doppler information was most helpful when 2D imaging was equivocal; its addition resulted in high sensitivity in an enriched cohort referred for fetal echocardiography.

View details for DOI 10.1007/s00246-016-1520-6

View details for Web of Science ID 000395096700019

View details for PubMedID 27888318

Abstract

Drug-eluting stents (DES) reduce restenosis and the need for repeat revascularization, but patients with ST-segment elevation myocardial infarction (STEMI) were excluded from many of the trials that established the safety and efficacy of DES. Because of the unstable nature of lesions associated with STEMI, these patients are considered high risk, and often experience higher rates of adverse events. There is concern that DES may increase the risk of stent thrombosis, particularly late and very late stent thrombosis, in STEMI patients. Evidence also suggests that although DES reduce target vessel revascularization, this benefit may be lost after extended follow-up due to procedures necessitated by increased stent thrombosis. Several randomized trials, meta-analyses, and registry studies have been conducted to compare DES with bare metal stents in patients with STEMI, but many of the studies are not large scale and the length of follow-up has been limited in duration. This review summarizes the data comparing DES with bare metal stents in patients with STEMI.

View details for PubMedID 20700088

Abstract

Artemisinin-derived compounds play an integral role in current malaria chemotherapy. Given the virtual certainty of emerging resistance, we have investigated spiro-1,2-dioxolanes as an alternative scaffold. The endoperoxide functionality was generated by the SnCl(4)-mediated annulation of a bis-silylperoxide and an alkene. The first set of eight analogs gave EC(50) values of 50-150 nM against Plasmodium falciparum 3D7 and Dd2 strains, except for the carboxylic acid analog. A second series, synthesized by coupling a spiro-1,2-dioxolane carboxylic acid to four separate amines, afforded the most potent compound (EC(50) approximately 5 nM).

View details for DOI 10.1016/j.bmcl.2008.10.083

View details for PubMedID 18993067