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

Pregnancy, Genetic Risk and Congenital Heart Disease

An increasing number of women with congenital heart disease (CHD) are reaching childbearing age and are considering pregnancy. Pregnancy is tolerated well in most of these women with unoperated, or repaired cardiac lesions; however, the risk is increased considerably in certain situations such as pulmonary hypertension, severe valvular stenosis, pulmonary atresia, mechanical prosthetic valves, with Fontan type circulation, in Marfan syndrome and other aortopathy. Counseling prior to pregnancy in CHD also involves discussion of genetic testing, possibility of transmission to the child, management during pregnancy including preimplantation genetic testing, and recommendations regarding fetal echocardiography. All medications including anticoagulation options if needed should be carefully reviewed prior to pregnancy due to maternal and fetal risks. If needed, cardiac surgery or balloon valvuloplasty can be carried out with an increased risk to mother and fetus. Overall, pregnancy in CHD is feasible in most patients with good maternal and fetal outcome. High risk pregnancy patients with CHD have to be counseled by a multidisciplinary team including cardiologists, obstetricians and anesthesiologists at a tertiary care center

Parents Still Matter: The Influence of Parental Enforcement of Bedtime on Adolescents\u27 Depressive Symptoms

Study Objectives: The aim of the current study was to test a multilevel mediation model that examined how adolescent sleep duration might be linked to depressive symptoms via their daytime energy levels. Furthermore, the study examined how parents\u27 enforcement of various types of bedtime rules predicted the duration of adolescent sleep. Methods: A total of 193 adolescent (ages 14-17; Mage = 15.7 years old, SD = .94; 54.4% female; 71% Caucasian) and parent dyads completed baseline, online surveys, and adolescents also completed online 7-day, twice-daily (i.e., morning and evening) reports of their sleep duration (morning diary) and their energy levels and depressive symptoms throughout the day (evening diary). Parents (Mage = 47.6 years old, SD = 5.4; 80% female) completed assessments of enforcement of bedtime-related rules (i.e., bedtime, cessation of electronic media usage, prohibiting afternoon/evening caffeine consumption). Multilevel modeling enabled the testing of the mediation model both at the between-person level and within individuals. Results: Results suggested that adolescents\u27 energy levels mediated the association between adolescents\u27 sleep duration and depressive symptoms. Furthermore, both greater enforcement of bedtimes and later school start times predicted longer sleep durations for adolescents, and were indirectly associated with adolescents\u27 depressive symptoms. Conclusions: These findings underscore the importance of adolescents obtaining sufficient sleep to support their mental health and suggest a critical point of intervention for preventing or decreasing insufficient sleep. Given the diverse threats to adolescents\u27 sleep as well as adolescents\u27 desire for greater independence, collaborative, autonomy-promoting bedtime limit-setting is recommended to support adolescents\u27 well-being

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

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

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

Randomized controlled trial of SPIRIT: An effective approach to preparing African-American dialysis patients and families for end of life

This randomized controlled trial tested an intervention, Sharing Patients’ Illness Representations to Increase Trust (SPIRIT), designed to enhance communication regarding end-of-life care between African Americans with end-stage renal disease (ESRD) and their chosen surrogate decision makers (N = 58 dyads). We used surveys and semi-structured interviews to determine the feasibility, acceptability, and preliminary effects of SPIRIT on patient and surrogate outcomes at 1 week and 3 months post-intervention. We also evaluated patients’ deaths and surrogates’ end-of-life decision making to assess surrogates’ perceptions of benefits and limitations of the SPIRIT while facing end-of-life decisions. We found that SPIRIT promoted communication between patients and their surrogates and was effective and well received by the participants