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

Does the dilated ascending aorta in an adult with congenital heart disease require intervention?

ObjectivesThere is increasing attention to prophylactic replacement of the moderately dilated ascending aorta at aortic valve surgery. Moderate ascending aortic dilatation is common in adult patients with conotruncal anomalies. There are no data outlining actual risk of progressive ascending aortic dilatation or dissection to provide management guidelines.MethodsFrom December 1973 through January 2008, 81 consecutive adults (median age, 34 years; range, 18--59 years) with conotruncal anomalies underwent operation on the aortic root, ascending aorta, or aortic valve. Primary cardiac diagnoses included tetralogy of Fallot with or without pulmonary atresia in 60 patients, truncus arteriosus in 12, double-outlet right ventricle in 6, and other in 3. Indications for operation included aortic regurgitation in 69 patients, supracoronary ascending aneurysm in 16, aortic stenosis in 5, and other in 8. Median ascending aortic size was 45 mm (23--80 mm).ResultsOperations included isolated aortic valve repair/replacement in 63 patients, combined aortic valve replacement and reduction aortoplasty in 9, aortic root replacement in 7, and isolated ascending aortic replacement in 2. Four patients required reoperation during a median follow-up of 3.8 years (maximum 31 years). There were no ascending aortic reoperations after previous reduction aortoplasties or supracoronary ascending aortic grafts, and there were no late aortic dissections.ConclusionsModerate ascending aortic enlargement is common among patients with conotruncal anomalies coming to operation, but aortic dissection is rare, as is subsequent need for aortic reoperation. Despite current enthusiasm for prophylactic operations on the ascending aorta in patients with acquired disease, these data suggest that the moderately dilated aorta in this setting may be observed

When should a mechanical tricuspid valve replacement be considered?

BackgroundIsolated mechanical tricuspid valve replacement (mTVR) is uncommon, early mortality is reported to be high, and little is known regarding the long-term outcome. We sought to evaluate the long-term outcome of mTVR.MethodsFrom 1980 to 2007, isolated mTVR was performed in 64 patients (33 men) at our institution; the median age was 45.5 years (6-71 years). There were 2192 tricuspid valve (TV) repairs and 137 isolated bioprosthetic TV replacements during the same time interval. Valve dysfunction was caused by congenital TV abnormality in 45 patients (70%), carcinoid heart disease in 13 (20%), traumatic TV regurgitation in 3 (5%), and other reason in 3 (5%). Twenty-three patients (36%) had at least 1 previous cardiac procedure (TV repair in 8 and bioprosthetic TV replacement in 7).ResultsMechanical prostheses used included Starr-Edwards (before 1993) in 36 patients (56%) and bileaflet prostheses in 28 (44%). Concomitant procedures included atrial septal defect closure in 28 (44%), arrhythmia surgery in 11 (17%), and pulmonary valvectomy for carcinoid disease in 10 patients (16%). Early mortality occurred in 5 patients (7.8%). Early morbidity included a permanent pacemaker in 9 (14%) and reexploration for bleeding in 2 patients (3%). Mean follow-up was 6 years (maximum 22.4 years). Five- and 10-year survival was 65% and 58%, respectively. There was no valve-related mortality. Late morbidity included valve thrombosis in 5 patients (8%); 3 were managed nonoperatively and 2 underwent TV rereplacement.ConclusionsIsolated mTVR still leads to increased early mortality. A mechanical valve can be considered in select situations when anticoagulation is necessary and in the presence of good right ventricular function

Increased risk of acute kidney injury in patients undergoing tricuspid valve surgery

OBJECTIVES We aimed to determine which patients undergoing tricuspid valve (TV) surgery are at increased risk for acute kidney injury (AKI). METHODS We reviewed 951 patients [mean age 67 ± 13 years, 573 (60%) female] having TV surgery between 2000 and 2007. Analysis focused on clinical outcome; AKI was defined by the consensus RIFLE criteria (risk, injury, failure). RESULTS Surgical procedures included isolated TV surgery in 224 (24%) and TV surgery in conjunction with another cardiac operation in 727 (76%) patients. TV surgery involved redo surgery in 395 (42%). The incidence of postoperative AKI was 30% (n = 285), and 75 (7.9%) of these patients required renal replacement therapy. AKI stratified by increased RIFLE class was associated with worse postoperative outcomes (prolonged intubation, length of hospital stay and mortality; P < 0.001 for each variable). For patients with AKI, odds ratio for mortality was 4.2 [95% confidence interval (CI) 3.2-5.4, P < 0.001; area under receiver operating curves 0.85 (95% CI 0.80-0.91)], and 2.3 (95% CI 1.9-2.9, P < 0.001) for prolonged intubation for each increase in RIFLE class. Independent risk factors for AKI were older age, male gender, previous surgery, preoperative anaemia, length of cardiopulmonary bypass and TV replacement. Importantly, preoperative creatinine and pulmonary artery pressure were not independently associated with AKI. CONCLUSIONS TV surgery carries a high incidence of postoperative AKI that is associated with adverse outcome. The use of the RIFLE criteria allows comparison with prior studies and is an important predictor of early mortality. The estimation of patient risk for AKI should be based on multivariable predictio

Late outcome of repair of congenital coronary artery fistulas—a word of caution

ObjectivesWe reviewed our experience with repair of congenital coronary artery fistulas.MethodsFrom June 1983 to December 2009, 46 patients (median age, 59 years; range, 1-84 years) underwent surgical repair. The presenting symptoms included angina in 16 patients (35%), congestive heart failure in 11 (24%), and bacterial endocarditis in 5 (11%). Preoperatively, 9 patients (20%) had at least moderate tricuspid regurgitation. Coronary artery dominance was right in 38 patients (83%). Coronary artery aneurysms were found in 8 patients (17%). The most common pattern was right coronary artery-to-coronary sinus fistula (18 patients, 39%); 11 patients had (23%) more than 1 fistula. One patient had undergone previous coil embolization.ResultsCardiopulmonary bypass was used in 39 patients (85%), with extracardiac and intracardiac repair performed in 30 (65%) and 16 (35%), respectively. The most common associated procedures were coronary artery bypass in 13 patients (28%). Early mortality occurred in 1 patient (2%). Postoperative myocardial infarction occurred in 5 patients (11%); 4 of these patients underwent simple ligation or division of their fistulas. The mean follow-up was 6 ± 5.8 years (maximum, 22 years). Late mortality occurred in 11 patients (24%). Two patients underwent reoperation for severe tricuspid regurgitation. Survival was significantly reduced compared with the age- and gender-matched population (P = .03). Residual fistulas were detected in 3 patients (6%), with no reintervention needed.ConclusionsPerioperative myocardial infarction is an important complication of ligation of coronary artery fistulas and can contribute to reduced late survival. The tricuspid valve should be evaluated carefully at repair because of the relatively high rate of residual regurgitation in survivors

Functional Status After Operation for Ebstein Anomaly The Mayo Clinic Experience

ObjectivesThe objective of this study was to review the long-term functional outcome of patients with Ebstein anomaly who had cardiac operation at our institution.BackgroundEbstein anomaly is a spectrum of tricuspid valvular and right ventricular dysplasia. Many patients will require operation in an attempt to improve quality of life.MethodsFrom April 1, 1972, to January 1, 2006, 539 patients with Ebstein anomaly underwent 604 cardiac operations at the Mayo Clinic in Rochester, Minnesota. Patient records were reviewed, and all patients known to still be alive were mailed a medical questionnaire or contacted by telephone.ResultsAt the initial operation at our institution, the mean age of the patients was 24 years (range 8 days to 79 years) and 53% were female patients. Survival at 5, 10, 15, and 20 years was 94%, 90%, 86%, and 76%, respectively. Survival free of late reoperation was 86%, 74%, 62%, and 46% at 5, 10, 15, and 20 years, respectively. Surveys were returned by 285 of 448 (64%) patients known to be alive at the time of this study. Two hundred thirty-seven (83%) patients were in New York Heart Association functional class I or II, and 34% were taking no cardiac medication. One hundred three patients (36%) reported an incident of atrial fibrillation or flutter, 5 patients (2%) reported having had endocarditis, and 1 patient (<1%) reported having a stroke. There were 275 pregnancies among 82 women. The recurrence of congenital heart disease was reported in 9 of 232 (3.9%) liveborn children.ConclusionsPatients have good long-term survival and functional outcomes after undergoing surgery for Ebstein anomaly. Atrial arrhythmias are common both before and after surgery. Many patients have had one or more successful pregnancies with a low-recurrence risk of congenital heart disease

Intraoperative transesophageal echocardiography during surgery for congenital heart defects

AbstractObjective: This study was undertaken to further define the impact of intraoperative transesophageal echocardiography during surgery for congenital heart disease and to determine appropriate indications. Methods: The impact of transesophageal echocardiography on patient care was assessed in 1002 patients who underwent this procedure during surgery for congenital heart defects. It had major impact when new information altered the planned procedure or led to a revision of the initial repair. The safety of intraoperative transesophageal echocardiography was evaluated by review of the prospective data sheets and the medical record. A simple relative cost analysis was also performed. Results: Patient median age was 9.9 years (range 2 days to 85 years). Transesophageal echocardiography had prebypass or postbypass major impact in 13.8% of cases (n = 138/1002). Major impact was more frequent during reoperations (P <.03). Procedures that benefited most from the additional information were valve repairs (aortic or atrioventricular) and complex outflow tract reconstructions. Partial anomalous pulmonary venous connection, tricuspid valve repair (other than of Ebstein anomaly), simple atrioventricular discordance, aortic arch anomalies, and secundum atrial septal defects had major impact rates less than 5%. No major complications occurred. Minor complications occurred in 1% of patients and were most often observed in infants smaller than 4 kg. Routine use of transesophageal echocardiography for all patients with congenital heart defects proved cost-effective. Conclusions: On the combined basis of the observed rates of major impact, the minimal complications, and the relative cost advantage, we believe that routine use of transesophageal echocardiography during most intracardiac repairs of congenital heart defects is justified, particularly for patients undergoing repeat operations for congenital cardiac malformations.J Thorac Cardiovasc Surg 2002;124:1176-8

Valve-sparing and valve-replacing techniques for aortic root replacement in patients with Marfan syndrome: Analysis of early outcome

ObjectiveA prospective, international registry study was initiated to provide contemporary comparative data on short-term clinical outcomes after aortic valve-sparing and aortic valve-replacing root operations in patients with Marfan syndrome. The purpose of this initial report is to describe the study design and to compare early outcomes in the first 151 enrolled patients.MethodsWe assessed 30-day outcomes in 151 patients who met strict Ghent diagnostic criteria for Marfan syndrome and underwent aortic root replacement with either valve-replacing (n = 46) or valve-sparing techniques (n = 105) at one of 18 participating centers. In the valve replacement group, a mechanical composite valve graft was used in 39 (85%) patients and a bioprosthetic valve in 7 (15%). In the valve-sparing group, David V procedures were performed in 57 (54%) patients, David I in 38 (36%), David IV in 8 (8%), Florida sleeve in 1 (1%), and Yacoub remodeling in 1 (1%).ResultsNo in-hospital or 30-day deaths occurred. Despite longer crossclamp and cardiopulmonary bypass times in the valve-sparing group, there were no significant between-group differences in postoperative complications. Thirty-day valve-related complications occurred in 2 (4%) patients undergoing valve replacement and in 3 (3%) undergoing valve-sparing procedures (P = .6).ConclusionsThe analysis of early outcomes revealed that valve-sparing techniques were the most common approach to root replacement in patients with Marfan syndrome in these centers. The complexity of valve-sparing root replacement did not translate into any demonstrable adverse early outcomes. Subsequent analysis will compare the 3-year durability of these two surgical approaches

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