Myocardial Infarction in a 29-Year-Old Woman Leads to Diagnosis and Treatment of a Rare Disease.

CASE PRESENTATION: A 29-year-old woman without history of cardiac disease or risk factors sought treatment for sudden onset of chest pain radiating down the back, jaw, and arms, complicated by discomfort in the orthostatic position and severe headache. She had a history of epistaxis since childhood as well as familial history of epistaxis via her mother. BMI was 22 kg/m2, and electrocardiography showed ST segment depression in V1V2 precordial leads and T-wave inversion in inferior leads. Troponin was elevated at 3,700 ng/L (normal, < 34 ng/L), with a peak of 11,115 ng/L.

Restrictive vs liberal red blood cell transfusion strategies in patients with acute myocardial infarction and anemia: Rationale and design of the REALITY trial.

BACKGROUND: Anemia is common in patients with acute myocardial infarction (AMI), and is an independent predictor of mortality. The optimal transfusion strategy in these patients is unclear. HYPOTHESIS: We hypothesized that a "restrictive" transfusion strategy (triggered by hemoglobin ≤8 g/dL) is clinically noninferior to a "liberal" transfusion strategy (triggered by hemoglobin ≤10 g/dL), but is less costly. METHODS: REALITY is an international, randomized, multicenter, open-label trial comparing a restrictive vs a liberal transfusion strategy in patients with AMI and anemia. The primary outcome is the incremental cost-effectiveness ratio (ICER) at 30 days, using the primary composite clinical outcome of major adverse cardiovascular events (MACE; comprising all-cause death, nonfatal stroke, nonfatal recurrent myocardial infarction, or emergency revascularization prompted by ischemia) as the effectiveness criterion. Secondary outcomes include the ICER at 1 year, and MACE (and its components) at 30 days and at 1 year. RESULTS: The trial aimed to enroll 630 patients. Based on estimated event rates of 11% in the restrictive group and 15% in the liberal group, this number will provide 80% power to demonstrate clinical noninferiority of the restrictive group, with a noninferiority margin corresponding to a relative risk equal to 1.25. The sample size will also provide 80% power to show the cost-effectiveness of the restrictive strategy at a threshold of €50 000 per quality-adjusted life year. CONCLUSIONS: REALITY will provide important guidance on the management of patients with AMI and anemia.

Higher prevalence of splenic artery aneurysms in hereditary hemorrhagic telangiectasia: Vascular implications and risk factors.

BACKGROUND: Splenic artery aneurysm (SAA) is a rare but potentially fatal condition. Rupture results in 25% mortality up to 75% in pregnant women with 95% fetal mortality. Brief reports suggest an increased risk of developing SAA in patients with HHT. METHODS: We analyzed enhanced multidetector CT data in 186 HHT patients matched (gender and ± 5 year old) with 186 controls. We screened for SAA and recorded diameter of splenic and hepatic arteries and hepatic, pancreatic and splenic parenchymal involvements. We determined by univariate and multivariate analysis, the relationship with age, sex, genetic status, cardiovascular risk factors (CVRF) and visceral involvement. RESULTS: SAA concerned 24.7% of HHT patients and 5.4% of controls, p<0.001. Factors associated with increased risk of SAA in HHT were female gender (p = 0.04, OR = 2.12, IC 95% = 1.03-4.50), age (p = 0.0003, OR = 1.04, 95% CI = 1.02-1.06) and pancreatic parenchymal involvement (p = 0.04, OR = 2.13, 95% CI = 1.01-4.49), but not type of mutation, hepatic or splenic parenchymal involvements, splenic size or splenic artery diameter or CVRF. CONCLUSIONS: We found a 4.57 higher rate of SAA in HHT patients without evidence of splenic high output related disease or increased CVRF. These results suggest the presence of a vascular intrinsic involvement. It should lead to screening all HHT patients for SAA. The vasculopathy hypothesis could require a change in management as screening of all systemic arteries and even the aorta and to further research in the field.

Pulmonary gas exchange in hereditary hemorrhagic telangiectasia patients with liver arteriovenous malformations.

BACKGROUND: The severity of Hereditary Hemorrhagic Telangiectasia (HHT) disease is generally related to vascular visceral involvement represented by arteriovenous malformations (AVMs). Pulmonary function tests (PFTs) remain normal in HHT patients without Pulmonary AVMs (PAVMs) and respiratory comorbidity. The aim of our study was to compare the diffusing capacity of the lung for carbon monoxide (DLCO) and nitric oxide (DLNO) and its 2 components: the pulmonary capillary blood volume (Vc) and the alveolar-capillary membrane conductance (Dm), in HHT patients with PAVMs, PAVMs and liver AVMs (LAVMs), LAVMs without PAVM, no PAVM and LAVM, and controls. METHODS: Sixty one consecutive adult patients (HHT without PAVM and LAVM: n = 7; HHT with PAVMs: n = 8; HHT with PAVMs and LAVMs: n = 25; HHT with LAVMs: n = 21) and controls matched for age and sex ratio without respiratory, heart and liver pathology (n = 15) were non-invasively evaluated using PFTs, combined DLCO/DLNO, arterial blood gas at rest, contrast echocardiography and enhanced computed tomography scan of the liver and chest the day of pulmonary function testing. RESULTS: We found that patients with LAVMs but without PAVMs exhibited increased Vc/Dm ratio. Interestingly, HHT patients with hepatic artery enlargement showed higher Vc/Dm ratio than HHT patients with normal hepatic artery diameter. CONCLUSION: Vc/Dm ratio may have practical impact in HHT patients' management to detect precociously the occurrence of LVAMs. However, further studies are needed to assess the accuracy and potential prognostic value of pulmonary gas exchange measurements in HHT patients with LVAMs.

Blood transfusion, bleeding, anemia, and survival in patients with acute myocardial infarction: FAST-MI registry.

BACKGROUND: An association between transfusion during index hospitalization and increased subsequent mortality has been reported in acute myocardial infarction (AMI). Whether this reflects the prognostic role of transfusion per se, or the impact of the index event leading to transfusion, remains unclear. We sought to evaluate the impact of transfusion on mortality in patients with AMI. METHODS: Using the nationwide FAST-MI 2005 AMI registry, we recorded anemia on admission, Thrombolysis in Myocardial Infarction major or minor bleeding, and transfusions during hospital stay. Multivariable analyses were performed to identify independent predictors of in-hospital and 5-year mortality. Cohorts of patients matched for propensity to receive transfusion were compared. RESULTS: Among 3541 patients with AMI, 827 (23.4%) had anemia on admission, 114 (3.2%) had minor or major bleeding, and 151 (4.3%) underwent transfusion. After multivariable analysis, both anemia and bleeding were independently associated with 5-year mortality (hazard ratio [HR] 1.4, 95% CI 1.2-1.6 and HR 1.4, 95% CI 1.1-1.8, respectively), whereas transfusion did not appear to be an independent predictor (HR 1.1, 95% CI 0.8-1.5). Mortality at 5 years did not differ between cohorts matched for propensity to receive transfusion. CONCLUSIONS: In this cohort, anemia on admission and bleeding during hospitalization were both associated with increased 5-year mortality in patients with myocardial infarction. Conversely, transfusion per se was not associated with lower survival. Further work is needed to clarify the optimal transfusion strategy in patients with bleeding or anemia and myocardial infarction.

Trends in Cardiovascular Disease Risk Factor Prevalence and Estimated 10-Year Cardiovascular Risk Scores in a Large Untreated French Urban Population: The CARVAR 92 Study.

BACKGROUND: Surveys measuring effectiveness of public awareness campaigns in reducing cardiovascular disease (CVD) incidence have yielded equivocal findings. The aim of this study was to describe cardiovascular risk factors (CVRFs) changes over the years in an untreated population-based study. METHODS: Between 2007 and 2012, we conducted a screening campaign for CVRFs in men aged 40 to 65 yrs and women aged 50 to 70 yrs in the western suburbs of Paris. Data were complete for 20,324 participants of which 14,709 were untreated. RESULTS: The prevalence trend over six years was statistically significant for hypertension in men from 25.9% in 2007 to 21.1% in 2012 (p=0.002) and from 23% in 2007 to 12.7% in 2012 in women (p<0.0001). The prevalence trend of tobacco smoking decreased from 38.6% to 27.7% in men (p=0.0001) and from 22.6% to 16.8% in women (p=0.113). The Framingham 10-year risk for CVD decreased from 13.3 ± 8.2 % in 2007 to 11.7 ± 9.0 % in 2012 in men and from 8.0 ± 4.1 % to 5.9 ± 3.4 % in women. The 10-year risk of fatal CVD based on the European Systematic COronary Risk Evaluation (SCORE) decreased in men and in women (p <0.0001). CONCLUSIONS: Over a 6-year period, several CVRFs have decreased in our screening campaign, leading to decrease in the 10-year risk for CVD and the 10-year risk of fatal CVD. Cardiologists should recognize the importance of community prevention programs and communication policies, particularly tobacco control and healthier diets to decrease the CVRFs in the general population.

Coronary CT angiography for chest pain in pseudoxanthoma elasticum and cardiac intervention management.

We describe the case of a rare cause of severe coronary artery disease in a young woman without cardiovascular risk factors. Cardiac CT played an important role in diagnosis and cardiac management including coronary intervention.

Reliability of contrast echocardiography to rule out pulmonary arteriovenous malformations and avoid CT irradiation in pediatric patients with hereditary hemorrhagic telangiectasia.

BACKGROUND: The overall risk of cancer is higher in people exposed to computed tomography (CT) scans in childhood or adolescence compared to adults. Transthoracic contrast echocardiography (TTCE) has recently been used to screen for pulmonary arteriovenous malformations (PAVMs) in children with hereditary hemorrhagic telangiectasia (HHT), but the value of TTCE to rule out PAVMs and avoid chest CT radiation has yet to be discussed. METHODS: Between 2003 and 2013, 92 pediatric patients with ≥3 Curaçao criteria and/or genetic mutation underwent TTCE and chest CT on the same day. We used the classification proposed by Barzilai for TTCE quantification of shunting. We considered CT findings as negative when no PAVMs or only one microscopic PAVM was detected. RESULTS: Mean age was 11.2 ± 4.1 years. The shunt was grade 0 on TTCE in 27.3%, grade 1 in 17%, grade 2 in 29.6%, grade 3 in 23.9%, and grade 4 in 2.2%. We found PAVMs on chest CT in 52.2%. All the patients with a grade 0 or 1 had a negative CT. The sensitivity and specificity of TTCE for the detection of PAVMs were 100% and 95.1%, respectively. The negative predictive value (NPV) was 100% and the positive predictive value (PPV) was 96%. CONCLUSIONS: A low-grade classification (Barzilai 0 or 1) could presumably exclude the presence of PAVMs and allow CT irradiation to be avoided in children and adolescents. The screening algorithm using TTCE first would allow more than 40% of the pediatric patients screened for PAVMs to be spared the radiation dose of CT.