Peripartum Cardiomyopathy Presenting as Bradycardia

Peripartum cardiomyopathy (PPCM) is a disease that typically affects young otherwise healthy women. As PPCM is associated with significant mortality, timely diagnosis is necessary to ensure appropriate care. To our knowledge, this represents the first reported case of PPCM presenting as symptomatic bradycardia. We describe the patient’s clinical presentation and relevant findings and review the potential etiology and ramifications of bradycardia in patients with PPCM

Tale of two hearts: a TNNT2 hypertrophic cardiomyopathy case report

Hypertrophic cardiomyopathy (HCM) is a heritable cardiomyopathy that is predominantly caused by pathogenic mutations in sarcomeric proteins. Here we report two individuals, a mother and her daughter, both heterozygous carriers of the same HCM-causing mutation in cardiac Troponin T (TNNT2). Despite sharing an identical pathogenic variant, the two individuals had very different manifestations of the disease. While one patient presented with sudden cardiac death, recurrent tachyarrhythmia, and findings of massive left ventricular hypertrophy, the other patient manifested with extensive abnormal myocardial delayed enhancement despite normal ventricular wall thickness and has remained relatively asymptomatic. Recognition of the marked incomplete penetrance and variable expressivity possible in a single TNNT2-positive family has potential to guide HCM patient care

Health status outcomes after spontaneous coronary artery dissection and comparison with other acute myocardial infarction: The VIRGO experience.

Data on health status outcomes after spontaneous coronary artery dissection (SCAD) are limited. Using the Variation in Recovery: Role of Gender on Outcomes of Young AMI Patients (VIRGO) study we compared patients with SCAD and other acute myocardial infarction (AMI) at presentation (baseline), 1-month, and-12 months using standardized health status instruments. Among 3572 AMI patients ≤ 55 years, 67 had SCAD. SCAD patients were younger (median age (IQR) 45 (40.5-51) years vs. 48 (44-52) in other AMI, p = 0.003), more often female (92.5% vs. 66.6%), have college education (73.1% vs. 51.7%) and household income >$100,000 (43.3% vs. 17.7% (All p<0.001). SCAD patients at baseline had higher mean ± SD Short Form-12 [SF-12] physical component scores [PCS] (48.7±10.2 vs. 43.8±12.1, p<0.001) and mental component scores [MCS] (49.6±12.4 vs. 45.4±12.5, p = 0.008), and at 12-months [PCS (50.1±9.0 vs. 44.3±12.3, p<0.001) and MCS (53±10.1 vs 50.2±11.0, p = 0.045)]. The Euro-Quality of Life Scale [EQ-5D] VAS and EQ-5D index scores were similar at baseline, but higher at 12-months for SCAD (EQ-5D VAS: 82.2±10.2 vs. 72.3±21.0, p<0.001; EQ-5D index scores; 90.2±15.3 vs. 83.7±19.8, p = 0.012). SCAD patients had better baseline Seattle Angina Questionnaire [SAQ] physical limitation (88.8±20.1 vs. 81.2±25.4, p = 0.017). At 12-months SCAD patients had better physical limitation (98.0±8.5 vs. 91.4±18.8, p = 0.007), angina frequency (96.4±8.8 vs. 91.3±16.8, p = 0.018) and quality of life scores (80.7±14.7 vs 72.2±23.2, p = 0.005). Magnitude of change in health status from baseline to 12-months was not statistically different between the groups. After adjustment for time and comorbidities there remained no difference in most health status outcomes. SCAD patients fare marginally better than other AMI patients on most health status instruments and have similar 12-month health status recovery. Better pre-event health status suggests a need to modify exercise prescriptions and cardiac rehabilitation protocols to better assist this physically active population to recover.The VIRGO study was supported by a 4-year National Heart, Lung, and Blood Institute grant [number 5R01HL081153). IMJOVEN was supported in Spain by grant PI 081614 from the Fondo de Investigaciones Sanitarias del Instituto Carlos III, Ministry of Science and Technology, and additional funds from the Centro Nacional de Investigaciones Cardiovasculares (CNIC).S

Association of the PHACTR1/EDN1 genetic locus with spontaneous coronary artery dissection

Background: Spontaneous coronary artery dissection (SCAD) is an increasingly recognized cause of acute coronary syndromes (ACS) afflicting predominantly younger to middle-aged women. Observational studies have reported a high prevalence of extracoronary vascular anomalies, especially fibromuscular dysplasia (FMD) and a low prevalence of coincidental cases of atherosclerosis. PHACTR1/EDN1 is a genetic risk locus for several vascular diseases, including FMD and coronary artery disease, with the putative causal noncoding variant at the rs9349379 locus acting as a potential enhancer for the endothelin-1 (EDN1) gene. Objectives: This study sought to test the association between the rs9349379 genotype and SCAD. Methods: Results from case control studies from France, United Kingdom, United States, and Australia were analyzed to test the association with SCAD risk, including age at first event, pregnancy-associated SCAD (P-SCAD), and recurrent SCAD. Results: The previously reported risk allele for FMD (rs9349379-A) was associated with a higher risk of SCAD in all studies. In a meta-analysis of 1,055 SCAD patients and 7,190 controls, the odds ratio (OR) was 1.67 (95% confidence interval [CI]: 1.50 to 1.86) per copy of rs9349379-A. In a subset of 491 SCAD patients, the OR estimate was found to be higher for the association with SCAD in patients without FMD (OR: 1.89; 95% CI: 1.53 to 2.33) than in SCAD cases with FMD (OR: 1.60; 95% CI: 1.28 to 1.99). There was no effect of genotype on age at first event, P-SCAD, or recurrence. Conclusions: The first genetic risk factor for SCAD was identified in the largest study conducted to date for this condition. This genetic link may contribute to the clinical overlap between SCAD and FMD

Bisphenol A: Should You Be Concerned?

The information provided in this handout does not necessarily reflect the views of the University of Minnesota Medical School physicians and faculty. These materials are provided for informational purposes only and are in no way intended to take the place of the advice and recommendations of your personal health care provider. You use the information provided in these handouts at your own risk.Bisphenol A (BPA) is a raw material primarily used as a monomer in polycarbonate and epoxy resin production. Industry produces more than 6 billion pounds of BPA each year, and it has been used commercially for ~50 years. Polycarbonates are used in infant bottles, plastic dinnerware and storageware, and therefore BPA may leach into human food. According to the Centers for Disease Control and Prevention (CDC), about 95% of Americans contain BPA in their blood. Recent concerns regard the effects of low exposure of BPA on human development and reproduction stemming from experimental evidence that BPA may weakly bind to estrogen receptors. The US NTP held an expert panel Aug 2007 reviewing 500 studies about BPA. The panel expressed “some” concerns that exposure causes neural and behavioral effects in infants and children and “minimal” concerns that it causes early puberty. No major health risks were found. A final statement is pending. The absolute decision regarding the effects of BPA on humans remains debated and is subject for continued studies.Tweet, Marysia Susan. (2008). Bisphenol A: Should You Be Concerned?. Retrieved from the University Digital Conservancy, https://hdl.handle.net/11299/5894

The presentation of spontaneous coronary artery dissection in the emergency department: Signs and symptoms in an unsuspecting population.

OBJECTIVES: Spontaneous coronary artery dissection (SCAD) has emerged as a common cause of acute coronary syndrome (ACS) in young women, although it is rarely discussed in the differential diagnosis for chest pain in the emergency department (ED). In a population otherwise considered low risk for myocardial infarction, there is a danger of incomplete workup and missed diagnosis. In this study, we aim to describe the clinical presentation of those who present to the ED with SCAD to increase awareness of this potentially fatal diagnosis among emergency practitioners. METHODS: Data were queried from the Mayo Clinic Virtual Multicenter SCAD Registry, a large multisite international disease registry. The registry includes demographic information as well as data from both medical records and surveys administered following the SCAD event. Symptom presentation was abstracted from survey narrative responses. Data analysis was performed using descriptive statistics. RESULTS: Of 1196&nbsp;subjects included, chest pain was reported during initial SCAD event in 95.7%. Most common chest symptoms descriptors were pain, pressure/weight, and tightness, with radiation most often in one or both arms/shoulders. Other common symptoms included nausea, shortness of breath, and diaphoresis. Most common electrocardiogram (ECG) findings reported were ST elevation, T-wave abnormality, and normal ECG. Initial troponin values were within normal range in 20.1% of patients. CONCLUSION: With young healthy women often considered low risk for ACS, it is important to understand that SCAD is a cause of ACS, and familiarity with presentation can improve awareness among emergency physicians. Our data can provide insight in helping to identify young women who present with chest pain due to SCAD so they can be appropriately evaluated

Spontaneous coronary artery dissection and heritable connective tissue disease

Background: Spontaneous coronary artery dissection (SCAD) is a non-atherosclerotic cause of acute coronary syndrome with a predilection for young women. Genetic risk factors for SCAD are not well characterized.Methods: We performed a retrospective single-center descriptive analysis of consecutive patients with SCAD (n=114) who had undergone comprehensive genetic evaluation. The presence or absence of six features suggestive of heritable connective tissue disease (CTD) were extracted: facial features, myopia, skin features, pectus deformity, arachnodactyly, and joint hypermobility. Physical examination features were stratified as mildly (0-2 features), moderately (3-4 features), or strongly (5-6 features) suggestive of a heritable disorder. Genetic testing, if performed, was also reviewed.Results: Of the 114 patients (mean age 44.1 years, 94.7% women), 49 (43.0%) had fibromuscular dysplasia (FMD), and six (5.3%) had features moderately suggestive of a heritable CTD. No patients had features strongly suggestive of a heritable disorder. Four of 6 patients underwent genetic testing, which was normal. Of the 58 total patients who underwent genetic testing (panel-based sequencing of genes associated with arterial dissection), only 2 (3.4%) received a diagnosis of CTD as a result of clinical features and a definite mutation: a 50 year-old man with Marfan\u27s Syndrome (FBN1) who had a dissection of distal left anterior descending artery; and 43 year-old woman with Type IV Ehlers-Danlos Syndrome and FMD who had dissection of left anterior descending and ramus arteries. Neither of the two patients had any identifiable family history of CTD or vascular dissections or aneurysms. An additional 11 patients (19.0%) had variants of unknown significance, none of which was thought to be a definite disease causing mutation based on in-silico analyses.Conclusion: Only a minority of patients with SCAD who undergo genetic evaluation have a likely pathogenic mutation identified on gene panel testing. Even fewer exhibit clinical features of CTD. These findings underscore the need for further studies to elucidate mechanisms of SCAD

Spontaneous coronary artery dissection and heritable connective tissue disease

Background: Spontaneous coronary artery dissection (SCAD) is a non-atherosclerotic cause of acute coronary syndrome with a predilection for young women. Genetic risk factors for SCAD are not well characterized.Methods: We performed a retrospective single-center descriptive analysis of consecutive patients with SCAD (n=114) who had undergone comprehensive genetic evaluation. The presence or absence of six features suggestive of heritable connective tissue disease (CTD) were extracted: facial features, myopia, skin features, pectus deformity, arachnodactyly, and joint hypermobility. Physical examination features were stratified as mildly (0-2 features), moderately (3-4 features), or strongly (5-6 features) suggestive of a heritable disorder. Genetic testing, if performed, was also reviewed.Results: Of the 114 patients (mean age 44.1 years, 94.7% women), 49 (43.0%) had fibromuscular dysplasia (FMD), and six (5.3%) had features moderately suggestive of a heritable CTD. No patients had features strongly suggestive of a heritable disorder. Four of 6 patients underwent genetic testing, which was normal. Of the 58 total patients who underwent genetic testing (panel-based sequencing of genes associated with arterial dissection), only 2 (3.4%) received a diagnosis of CTD as a result of clinical features and a definite mutation: a 50 year-old man with Marfan\u27s Syndrome (FBN1) who had a dissection of distal left anterior descending artery; and 43 year-old woman with Type IV Ehlers-Danlos Syndrome and FMD who had dissection of left anterior descending and ramus arteries. Neither of the two patients had any identifiable family history of CTD or vascular dissections or aneurysms. An additional 11 patients (19.0%) had variants of unknown significance, none of which was thought to be a definite disease causing mutation based on in-silico analyses.Conclusion: Only a minority of patients with SCAD who undergo genetic evaluation have a likely pathogenic mutation identified on gene panel testing. Even fewer exhibit clinical features of CTD. These findings underscore the need for further studies to elucidate mechanisms of SCAD