Marfan syndrome diagnosis and management

Marfan syndrome is the most common inherited multisystem disorder of connective tissue. This autosomal dominant condition has an incidence of 2-3 per 10,000 individuals. Although genetic diagnostic techniques are available, the diagnosis is primarily made using the Ghent diagnostic criteria. Early identification and appropriate management improves the prognosis of patients with Marfan syndrome who are prone to the life-threatening cardiovascular complications of aortic dissection and rupture. Beta-blockers have been demonstrated to slow aortic growth and thus delay the time to aortic surgery. Operative intervention has markedly changed the prognosis of patients with Marfan syndrome and can be safely performed on an elective basis. The advance in the understanding of the cause of Marfan syndrome, as well as early recognition of the disorder and subsequent institution of medical and surgical therapy has resulted in dramatic improvement

Left atrial appendage thrombus is not uncommon in patients with acute atrial fibrillation and a recent embolic event: A transesophageal echocardiographics tudy

AbstractObjectives. The objective of this study was to determine the frequency of left atrial thrombus in patients with acute atrial fibrillation.Background. It is commonly assumed but unproved that left atrial thrombus in patients with atrial fibrillation begins to form after the onset of atrial fibrillation and that it requires ≥3 days to form. Thus, patients with acute atrial fibrillation (i.e., <3 days) frequently undergo cardioversion without anticoagulation prophylaxis.Methods. Three hundred seventeen patients (250 men, 67 women; mean [±SD] age 64 ± 12 years) with acute (n = 143) or chronic (n = 174) atrial fibrillation were studied by two-dimensional transesophageal echocardiography.Results. Left atrial appendage thrombus was present in 20 patients (14%) with acute and 47 patients (27%, p < 0.01) with chronic atrial fibrillation. In patients with a recent embolic event, the frequency of left atrial appendage thrombus did not differ between those with acute (5 [21%] of 24) and those with chronic (12 [23%] of 52, p = NS) atrial fibrillation. Patients with acute versus chronic atrial fibrillation, respectively, did not differ (p = NS) in mean age (64 ± 13 vs. 65 ± 11 years), frequency of concentric left ventricular hypertrophy (32% vs. 26%), hypertension (32% vs. 41%), coronary artery disease (35% vs. 39%), congestive heart failure (43% vs. 48%), mitral stenosis (4% vs. 7%) or mitral valve replacement (1.4% vs. 6%). The minimally detectable difference in proportions between patients with acute and chronic atrial fibrillation based on a power of 0.80 and base proportion of 0.20 was 14%.Conclusions. Left atrial thrombus does occur in patients with acute atrial fibrillation <3 days in duration. The frequency of left atrial thrombus in patients with recent emboli is comparable between those with acute and chronic atrial fibrillation. These data suggest that patients with acute atrial fibrillation for <3 days require anticoagulation prophylaxis or evaluation by transesophageal echocardiography before cardioversion and should not be assumed to be free of left atrial thrombus

A Challenging Combination: Anomalous Left Anterior Descending Coronary Artery, Myocardial Bridging, and Endothelial Dysfunction

50 years old female patient with a medical history of hypertension presented to the clinic with chest pain, palpitations, and dyspnea on exertion of 2 years duration. Extensive workup in search of the culprit etiology of her chest pain revealed a challenging combination of an anomalous left anterior descending artery with myocardial bridging and endothelial dysfunction. She was treated medically with long acting nitrates, L-arginine and calcium channel blockers, and remains asymptomatic after 12 months of follow up

A Risk Prediction Index for Amiodarone-Induced Thyrotoxicosis in Adults with Congenital Heart Disease

Amiodarone therapy in adults with congenital heart disease (CHD) is associated with a significant risk of amiodarone-induced thyrotoxicosis (AIT). We developed a risk index to identify those patients being considered for amiodarone treatment who are at high risk for AIT. We reviewed the health records of adults with CHD and assessed the association between potential clinical predictors and AIT. Significant predictors were included in multivariate analyses. The parameter estimates from multivariate analysis were subsequently used to develop a risk index. 169 adults met eligibility criteria and 23 developed AIT. The final model included age, cyanotic heart disease and BMI. The risk index developed identified 3 categories of risk. Their AIT likelihood ratios were: 0.37 for low risk (95% CI 0.15–0.92); 1.12 for medium risk (95% CI 0.65–1.91); and 3.47 for high risk (95% CI 1.7–7.11). The AIT predicted risk in our population was 5% for the low risk group, 15% for the medium risk group and 47% for the high risk group. Conclusions. We derived the first model to quantify the risk for developing AIT among adults with CHD. Before using it clinically to help selecting among alternative antiarrhythmic options, it needs validation in an independent population

Association of atrial fibrillation and obstructive sleep apnea.

BACKGROUND: Obstructive sleep apnea (OSA) is associated with recurrent atrial fibrillation (AF) after electrocardioversion. OSA is highly prevalent in patients who are male, obese, and/or hypertensive, but its prevalence in patients with AF is unknown. METHODS AND RESULTS: We prospectively studied consecutive patients undergoing electrocardioversion for AF (n=151) and consecutive patients without past or current AF referred to a general cardiology practice (n=312). OSA was diagnosed with the Berlin questionnaire, which is validated to identify patients with OSA. We also assessed its accuracy compared with polysomnography in a sample of the study population. Groups were compared with the 2-tailed t, Wilcoxon, and chi2 tests. Logistic regression modeled the association of AF and OSA after adjustment for relevant covariates. Patients in each group had similar age, gender, body mass index, and rates of diabetes, hypertension, and congestive heart failure. The questionnaire performed with 0.86 sensitivity, 0.89 specificity, and 0.97 positive predictive value in our sample. The proportion of patients with OSA was significantly higher in the AF group than in the general cardiology group (49% versus 32%, P=0.0004). The adjusted odds ratio for the association between AF and OSA was 2.19 (95% CI 1.40 to 3.42, P=0.0006). CONCLUSIONS: The novel finding of this study is that a strong association exists between OSA and AF, such that OSA is strikingly more prevalent in patients with AF than in high-risk patients with multiple other cardiovascular diseases. The coinciding epidemics of obesity and AF underscore the clinical importance of these results

Partial Anomalous Pulmonary Venous Connection: Diagnosis by Transesophageal Echocardiography

AbstractObjectives. This study sought to demonstrate that with proper technique, identification of the normal and abnormal pulmonary venous connection can be made with confidence using transesophageal echocardiography (TEE).Background. Partial anomalous pulmonary venous connection (PAPVC) is an uncommon congenital anomaly whose diagnosis has classically been made using angiography.Methods. We performed a retrospective review of all patients of all ages with PAPVC diagnosed at the Mayo Clinic who had undergone TEE because of either right ventricular volume overload or suspected intracardiac shunting by transthoracic echocardiography or intraoperatively.Results. A total of 66 PAPVCs were detected in 43 patients (1.5/patient); in 2 additional patients, TEE suggested, but did not diagnose, PAPVCs. Shortness of breath was the most common presenting symptom (42.2%), followed by heart murmur and supraventricular tachycardia. Right-sided anomalous veins were identified in 35 patients (81.4%), left-sided in 7 (16.3%) and bilateral in 1 (2.3%). There was a single anomalous connecting vein in 23 patients (53.5%), two in 18 (41.9%), three in 1 (2.3%) and four in 1 (2.3%). The connecting site was the superior vena cava (SVC) in 39 veins (59.1%), right atrial–SVC junction in 6 (9.1%), right atrium in 8 (12.1%), inferior vena cava in 1 (1.5%) and the coronary sinus in 2 (3.0%). Ten anomalous left pulmonary veins were connected by a vertical vein to the innominate vein (15.1%). Sinus venosus atrial septal defect (ASD) was the most common associated anomaly in 22 patients (49%), followed by ostium secundum ASD in 6 and patent foramen ovale in 4. Fifteen patients had an intact atrial septum. Thirty-one patients (68.8%) underwent surgical repair. PAPVC was confirmed in all patients, including the two whose TEE results were suggestive of PAPVC. All 49 PAPVCs detected by TEE preoperatively were confirmed at the time of operation.Conclusions. TEE is highly diagnostic for PAPVC and can obviate angiography. Accurate anatomic diagnosis may influence the need for medical and surgical management. TEE should be performed in patients with right ventricular volume overload when the precordial examination is inconclusive.(J Am Coll Cardiol 1997;29:1351–8