Bandyopadhyay, Dhrubajyoti

AbstractMyhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic (2016–2023) and by collaborating specialists have facilitated deep phenotyping, genotyping and natural history analysis. Of 47 patients (four previously reported), most (81%) patients returned to MGH at least once. For patients followed for at least 5 years, symptom progression was observed in all. 55% were female and 9% were older than 18 years at diagnosis. Pathogenic variants in SMAD4 involved protein residues p.Ile500Val (49%), p.Ile500Thr (11%), p.Ile500Leu (2%), and p.Arg496Cys (38%). Individuals with the SMAD4 variant p.Arg496Cys were less likely to have hearing loss, growth restriction, and aortic hypoplasia than the other variant groups. Those with the p.Ile500Thr variant had moderate/severe aortic hypoplasia in three patients (60%), however, the small number (n = 5) prevented statistical comparison with the other variants. Two deaths reported in this cohort involved complex cardiovascular disease and airway stenosis, respectively. We provide a foundation for ongoing natural history studies and emphasize the need for evidence‐based guidelines in anticipation of disease‐specific therapies.

Abstract Aims Spontaneous coronary artery dissection (SCAD) has become increasingly recognized. It accounts for <1-4% of acute coronary syndrome presentations. Overall, however, it makes up over 40% of pregnancy-associated myocardial infarction. Furthermore, pregnancy-associated spontaneous coronary artery dissection (P-SCAD) is described to have a greater degree of clinical manifestations, including left ventricular dysfunction, shock, and left main or multivessel involvement. The findings are disconcerting, though many studies evaluating P-SCAD are based on case series data or are single centre studies. Methods and results The aim of this study was to evaluate a larger national dataset to evaluate the outcomes of SCAD and specifically P-SCAD in an attempt to better characterize the severity and clinical nature of this condition. To conduct this study, we analysed the National Readmission Database from January 2016 to December 2020. Propensity matching was done using the Greedy 1:1 method. Multivariate logistics and time-to-event Cox regression analysis models were built by including all confounders significantly associated with the outcome on univariable analysis with a cut-off P-value of 0.2. In multivariate regression analysis, P-SCAD patients had a non-propensity matched odds ratio (OR) of 0.21 (0.3-1.54, P = 0.123) of dying and a propensity matched OR of 0.11 (0.02-0.61, P = 0.012) of dying. Thirty-day readmission rate for P-SCAD was 15.8% (n = 93) and for non-pregnant spontaneous coronary artery dissection (NP-SCAD) was 11.2% (n = 2286); non-propensity matched OR for readmission for PSCAD patients was 1.68 (1.24-2.29, P = 0.001) and propensity matched OR was 3.39 (1.93-5.97, P < 0.001). Conclusion Among hospitalized patient, P–SCAD was associated with similar clinical outcomes and reduced incidence of death when compared with NP–SCAD, though had higher rates of 30–day readmission. Larger–scale observational data will be needed to ascertain the true incidence of cardiovascular complications as it relates to P–SCAD.

Background: Spontaneous coronary artery dissection (SCAD) is defined as a non-traumatic separation of the epicardial coronary artery walls that creates a false lumen. SCAD poses a difficult challenge in management, as decisions regarding revascularization and medical management seem to be tailored to the individual patient. We evaluated and compared outcomes based on cardiogenic shock in patients with SCAD utilizing Nationwide Readmissions Database (NRD) between January 1, 2016, to December 30, 2020. Methods: We utilized the NRD 2016–2019 to carry out this study. We evaluated demographics (e.g., age, gender), conventional risk factors, comorbidities present on the index admission, and in-hospital outcomes using their specific ICD-10-CM codes. The primary outcomes were In-hospital mortality and 30-day readmission, and the secondary outcome was to compare the complications in SCAD patient with cardiogenic shock (CS) compared to those without CS. Results: We analyzed 2473 individuals with SCAD, 2199 of these individuals did not have cardiogenic shock whereas 274 of these individuals did have cardiogenic shock. When comparing SCAD with cardiogenic shock to SCAD without cardiogenic shock, there was a statistically significant increased odds ratio (OR) for death (propensity matched OR 24.93 (7.49–83.05), use of mechanical circulatory support (propensity matched OR 15.30 (6.87–34.04), ventricular tachycardia (propensity matched OR 4.45 (1.92–10.34), utilization of blood transfusions (propensity matched OR 3.82 (1.86–7.87), acute kidney injury (propensity matched OR 4.02 (1.45–11.13), need for mechanical ventilation (propensity matched OR 8.87 (3.53–22.31), and respiratory failure (propensity matched OR 4.95 (1.83–13.41)))))))). There was no statistically significant difference in 30-day readmission rates between the two groups. Conclusions: SCAD is a unique condition that can lead to many complications. In our analysis, we showed that SCAD associated with cardiogenic shock compared to SCAD not associated with cardiogenic shock results in greater odds of complications including death, use of mechanical circulatory support, need for blood transfusions, ventricular tachycardia, acute kidney injury, use of mechanical ventilation, and respiratory failure. SCAD with cardiogenic shock represents a significantly critical clinical scenario that requires a multi-disciplinary approach to prevent the many potential complications associated with this disease process.

AbstractBackground and ObjectivesSince publishing successful clinical trial results of mRNA coronavirus disease 2019 (COVID‐19) vaccines in December 2020, multiple reports have arisen about cardiovascular complications following the mRNA vaccination. This study provides an in‐depth account of various cardiovascular adverse events reported after the mRNA vaccines' first or second dose including pericarditis/myopericarditis, myocarditis, hypotension, hypertension, arrhythmia, cardiogenic shock, stroke, myocardial infarction/STEMI, intracranial hemorrhage, thrombosis (deep vein thrombosis, cerebral venous thrombosis, arterial or venous thrombotic events, portal vein thrombosis, coronary thrombosis, microvascular small bowel thrombosis), and pulmonary embolism.MethodsA systematic review of original studies reporting confirmed cardiovascular manifestations post‐mRNA COVID‐19 vaccination was performed. Following the PRISMA guidelines, electronic databases (PubMed, PMC NCBI, and Cochrane Library) were searched until January 2022. Baseline characteristics of patients and disease outcomes were extracted from relevant studies.ResultsA total of 81 articles analyzed confirmed cardiovascular complications post‐COVID‐19 mRNA vaccines in 17,636 individuals and reported 284 deaths with any mRNA vaccine. Of 17,636 cardiovascular events with any mRNA vaccine, 17,192 were observed with the BNT162b2 (Pfizer−BioNTech) vaccine, 444 events with mRNA‐1273 (Moderna). Thrombosis was frequently reported with any mRNA vaccine (n = 13,936), followed by stroke (n = 758), myocarditis (n = 511), myocardial infarction (n = 377), pulmonary embolism (n = 301), and arrhythmia (n = 254). Stratifying the results by vaccine type showed that thrombosis (80.8%) was common in the BNT162b2 cohort, while stroke (39.9%) was common with mRNA‐1273 for any dose. The time between the vaccination dosage and the first symptom onset averaged 5.6 and 4.8 days with the mRNA‐1273 vaccine and BNT162b2, respectively. The mRNA‐1273 cohort reported 56 deaths compared to the 228 with BNT162b2, while the rest were discharged or transferred to the ICU.ConclusionAvailable literature includes more studies with the BNT162b2 vaccine than mRNA‐1273. Future studies must report mortality and adverse cardiovascular events by vaccine types.

Abstract Background Sarcoidosis, amyloidosis, hemochromatosis and scleroderma are the most common systemic disorders leading to infiltrative cardiomyopathy (InCM). Each of them has been associated with conduction abnormalities and sudden cardiac death. In patients who undergo in-hospital cardiac arrest, a high index of suspicion is required to rule out InCM as an underlying contributor. Purpose We aimed to analyse the temporal trend in the prevalence of InCM among patients with in-hospital cardiac arrest and identify factors associated with increased mortality in this population. Methods We analysed data from the National Inpatient Sample (NIS), which is the largest publicly available database of in-hospital patients in the Unites States. Using ICD-10 coding, we identified patients who were hospitalized across 10 years from 2010–2019. Patients with diagnosis codes for both cardiac arrest and a subtype of InCM were included. Demographic characteristics and co-morbidity data were collected. Statistical analysis was performed using STATA. Results The total number of patients with a diagnosis of in-hospital cardiac arrest was 19,34,260. Of these, the total number with InCM was 14,803 (0.77%), which comprised our study population. Mean age was 63 years. The overall prevalence of InCM across the years ranged between 0.75 to 0.9%, with a significant temporal increase (p<0.01). Prevalence of females ranged between 51% to 62% and significantly outnumbered males across the time period. (p=0.011). Incidence of in-hospital mortality ranged between 61% to 76% for females and 30 to 38% for males. Race based analysis showed that prevalence of Caucasians ranged from 51% to 62% while that of African Americans (AA) ranged from 57% to 73%. The incidence of mortality was similar in both populations. Sarcoidosis was the most prevalent form of InCM, accounting for nearly two-fifths of all cases while amyloidosis and scleroderma both accounted for nearly 20% each. Haemochromatosis was present in 10% of the population. Overall mortality rate in our study population was 60.6%. The following co-morbidities were more prevalent in patients with InCM than those without: history of heart failure, chronic obstructive pulmonary disease (COPD), chronic kidney disease, anaemia, malignancy, coagulopathy, ventricular tachycardia, acute kidney injury and stroke. The following factors were independent predictors of in-hospital mortality-age (p=0.001), female gender (p=0.016), Hispanic race (p=0.039), history of COPD (p<0.001) and presence of malignancy (p=0.042). Conclusion The prevalence of infiltrative cardiomyopathy in patients with in-hospital cardiac arrest is increasing. Females, older patients and Hispanic population are at an increased risk of mortality. Sex and race based disparities in the prevalence of InCM in patients with in-hospital cardiac arrest is an area of further research. Funding Acknowledgement Type of funding sources: None.