Mitral valve prolapse in sickle cell disease: Manifestation of a generalized connective tissue disorder

Previous studies have shown an association of sickle cell disease with generalized connective tissue disorders such as pscudoxanthoma elasticum. We recently documented an unexpectedly high prevalence of mitral valve prolapse, a connective tissue disorder, in sickle cell discase. To investigate this association, skin biopsies were analyzed from 32 sickle cell disease patients, 11 of whom had mitral prolapse. Total and type III collagen, collagen solubility, and uronic acid were not different between the patients with or without mitral prolapse (p > 0.05). Computerized morphometric quantitation of the volume fraction of elastic fibers was greater in sickle cell disease patients than in 10 normals (3.1 ± 0.1 mean ± SEM vs 2.0 ± 0.3%; p < 0.01) but less than in three patients with pseudoxanthoma elasticum (9.7 0.6%; p < 0.001). Desmosine radioimmunoassay (an index of elastic fibers) was greater in sickle cell disease patients with mitral prolapse than those without (239.3 ± 9.3 vs 171.7 ± 25.4 ng/mg wet weight; p < 0.02). Histopathologic grading showed a similar trend (p = 0.07). The combined probabilities of these three independent tests of elastic fiber quantity showed an increased elastic fiber concentration in mitral prolapse patients compared to those without mitral prolapse (p < 0.02). Thus, there is no evidence for a specific collagen defect; rather, sickle cell disease appears to be associated with a spectrum of elastic tissue disorders, a feature that could predispose to mitral valve prolapse.     

Mitral valve replacement in children: mortality, morbidity, and haemodynamic status up to medium term follow up

OBJECTIVE—To investigate the outcome of mechanical mitral valve replacement in children after up to 11 years of follow up.
DESIGN—Retrospective analysis of case records. Operative survivors underwent echocardiographic studies to define current haemodynamic status and prosthetic valve function.
SETTING—Tertiary referral centre.
PATIENTS—All 54 children who underwent mitral valve replacement between January 1987 and December 1997.
RESULTS—30 day mortality was 20.3% and was associated with small valve size and supra-annular position. The actuarial freedom from the following events at five years (70% confidence interval (CI)) was: death, including 30 day mortality and transplantation, 68% (70% CI 62% to 75%); bleeding, 89% (70% CI 84% to 94%); non-structural valve dysfunction and reoperation, 92% (70% CI 87% to 97%). The incidence of endocarditis and thromboembolism was low and there was no structural valve failure. Event-free survival was 52% (70% CI 45% to 60%). Low weight, young age, and small valve size increased the chance of death or reoperation. On echocardiography, left ventricular dilatation and wall motion abnormalities were often observed. A high mean gradient over the prosthesis was associated with small valve size but not with length of follow up.
CONCLUSIONS—With the use of mechanical prostheses for mitral valve replacement in children, the problem of structural valve failure is no longer an issue. However, the procedure is still associated with a high complication rate, both at surgery and during follow up, and should therefore be reserved for patients in whom valve repair is not technically feasible.


Keywords: mitral valve replacement; prosthetic mitral valve; child; outcome     

Mitral valve repair versus replacement in simultaneous aortic and mitral valve surgery

BACKGROUND:

Double valve replacement for concomitant aortic and mitral valve disease is associated with substantial morbidity and mortality. Excellent results with valve repair in isolated mitral valve lesions have been reported; therefore, whether its potential benefits would translate into better outcomes in patients with combined mitral-aortic disease was investigated.

METHODS:

A retrospective observational study was performed involving 341 patients who underwent aortic valve replacement with either mitral valve repair (n=42) or double valve replacement (n=299). Data were analyzed for early mortality, late valve-related complications and survival.

RESULTS:

The early mortality rate was 11.9% for valve repair and 11.0% for replacement (P=0.797). Survival (± SD) was 67±11% in mitral valve repair with aortic valve replacement and 81±3% in double valve replacement at five years of follow-up (P=0.187). The percentage of patients who did not experience major adverse valve-related events at five years of follow-up was 83±9% in those who underwent mitral valve repair with aortic valve replacement and 89±2% in patients who underwent double valve replacement (P=0.412). Age >70 years (HR 2.4 [95% CI 1.1 to 4.9]; P=0.023) and renal dysfunction (HR 1.9 [95% CI 1.2 to 3.7]; P=0.01) were independent predictors of decreased survival.

CONCLUSIONS:

In patients with double valve disease, both mitral valve repair and replacement provided comparable early outcomes. There were no significant differences in valve-related reoperations, anticoagulation-related complications or prosthetic valve endocarditis. Patient-related factors appear to be the major determinant of late survival, irrespective of the type of operation.     

Mitral valve disease and dysphagia

Eighty patients were studied to determine whether dysphagia(delayed transit through oesophagus) occurs in the presenceof an enlarged left atrium. Twenty-six patients (group A), withno enlargement of the left atrium but undergoing open heartsurgery, were randomly selected as controls. Group B (N = 54)consisted of patients undergoing mitral valve surgery with varyingdegrees of left atrial enlargement. All patients were requested to swallow, in the standing position,a barium filled capsule or barium filled Slow K tablets. Ifthere was no hold up in the oesophagus the procedure was repeatedwith the patient seated. When hold up occurred the patient wasscreened at 5, 10 and 15 min. No hold up was found in any patient in the control group (N= 26). 50% of patients with left atrial enlargement had some degreeof hold up, the incidence and duration of which correlated withthe size of the atrium. Hold up was just as likely to occur with a capsule or with a‘slow K’ tablet. When hold up lasted for more than15 min, water did not flush away the ‘stuck’ medicament,but a bolus of solid food did.     

Splenic sepsis in sickle cell disease

We describe two patients with sickle cell disease (SCD) who developed infections situated in the spleen. One patient had a splenic abscess and there was strong clinical evidence for an infected splenic infarct in the second patient. SCD predisposes to splenic infection because of functional hyposplenism, defective phagocyte function and splenic infarction. Splenic infections can occur in patients who might be considered to have an absent spleen and the diagnosis of splenic abscess should be considered in individuals with SCD who present with fever and abdominal pain.     

瓣膜置换术中双极射频消融治疗风湿性心脏病合并心房颤动

目的 探讨风湿性心脏瓣膜病合并心房颤动（AF）患者同期行瓣膜替换术及双极射频消融迷宫术的近期手术效果.方法 选取风湿性心脏瓣膜病合并心房颤动患者18例（消融组）,同期行瓣膜替换术及双极射频消融迷宫术治疗心房颤动.18例配对仅行心脏瓣膜替换术而未行双极射频消融迷宫术的患者作为对照组.患者年龄36～65岁,平均53.5岁,房颤持续时间1～10年,平均5年,左心房内径为44～67 mm.比较两组患者的手术治疗结果.结果 消融组18例患者术后窦性心律16例,房颤心律1例,结性心律1例;随访8个月,15例维持窦性心律,3例阵发性房颤心律.对照组13例术中心脏复跳后即为房颤心律,5例心脏复跳后为窦性心律,术后24 h内均转为房颤心律,应用胺碘酮不能持续恢复窦性心律.两组术后左房内径均较术前显著降低（P＜0.01）,消融组术后左房内径小于对照组[（33.06±2.88）mm比（36.16±2.43）mm,P＜0.05].结论 风湿性心脏瓣膜病合并慢性心房颤动患者在行瓣膜替换术的同时行附加的双极射频消融手术疗效良好,安全简便.     

Acute renal infarction in sickle cell disease

End organ failure in sickle cell disease has classically been attributed to changes in the microvasculature. A case is reported in which sudden and complete loss of blood flow to the left kidney occurred during a painful crisis in a woman with homozygous SS disease. The findings are most consistent with occlusion of the renal artery.     

The impact of mitral stenosis on outcomes of aortic valve stenosis patient undergoing surgical aortic valve replacement or transcatheter aortic valve replacement

Background

The concomitant presence of mitral stenosis (MS) in the setting of symptomatic aortic stenosis represent a clinical challenge. Little is known regarding the outcome of mitral stenosis (MS) patients undergoing transcatheter aortic valve replacement (TAVR) or surgical aortic valve replacement (SAVR). Therefore, we sought to study the outcome of MS patients undergoing aortic valve replacement (AVR).

Method

Using weighted data from the National Inpatient Sample (NIS) database between 2011 and 2014, we identified patients who were diagnosed with MS. Patients who had undergone TAVR as a primary procedure were identified and compared to patients who had SAVR. Univariate and multivariate logistic regression analysis were performed for the outcomes of in‐hospital mortality, length of stay (LOS), blood transfusion, postprocedural hemorrhage, vascular, cardiac and respiratory complications, permanent pacemaker placement (PPM), postprocedural stroke, acute kidney injury (AKI), and discharge to an outside facility.

Results

A total of 4524 patients were diagnosed with MS, of which 552 (12.2%) had TAVR and 3972 (87.8%) had SAVR. TAVR patients were older (79.9 vs 70.0) with more females (67.4% vs 60.0%) and African American patients (7.7% vs 7.1%) (P < 0.001). In addition, the TAVR group had more comorbidities compared to SAVR in term of coronary artery disease (CAD), congestive heart failure (CHF), chronic lung disease, hypertension (HTN), chronic kidney disease (CKD), and peripheral vascular disease (PVD) (P < 0.001 for all). Using Multivariate logistic regression, and after adjusting for potential risk factors, TAVR patients had lower in‐hospital mortality (7.9% vs 8.1% adjusted Odds Ratio [aOR], 0.615; 95% confidence interval [CI], 0.392–0.964, P = 0.034), shorter LOS. Also, TAVR patients had lower rates of cardiac and respiratory complications, PPM, AKI, and discharge to an outside facility compared with the SAVR group.

Conclusion

In patients with severe aortic stenosis and concomitant mitral stenosis, TAVR is a safe and attractive option for patients undergoing AVR with less complications compared with SAVR.

     

Unexplained lymphadenopathy in sickle cell disease

Progressive lymphadenopathy in a previously healthy female adult with homozygous sickle cell disease (SCD) was found to be due to infection with the human immunodeficiency virus (HIV). Detailed questioning identified several risk factors for HIV in this apparently low-risk patient. Parenteral therapy and heterosexual relationships while abroad may place such SCD patients at risk of HIV infection and its sequelae. The additional risk due to the underlying immunological abnormalities which have been identified in SCD patients is unclear in the absence of prospective studies or reported cases.     

Current developmental screening practices in young children with sickle cell disease

Despite recent developmental screening guidelines, rates of neurodevelopmental disorders (NDDs) remain lower than expected in children with sickle cell disease (SCD). A retrospective chart review identified 276 eligible patients; 214 charts were available for developmental screening and 207 charts for autism-specific screening. Developmental surveillance/screening was conducted in 70% of charts and autism-specific screening in 19% of charts. Validated tools were used in 32% of developmental screenings and 92% of autism-specific screenings. Many children (57%) were screened outside recommended ages. In conclusion, children with SCD are not regularly receiving appropriate developmental screening and surveillance by their healthcare providers.     

Malignancy in patients with sickle cell disease

Malignancy in patients with sickle cell disease (SCD) has been previously reported, but the types of cancer and its incidence remain undefined. With the advent of hydroxyurea therapy, there is concern about increasing the cancer risk for patients with SCD. The International Association of Sickle Cell Nurses and Physician Assistants identified 52 cases of cancer (49 patients) among 16,613 patients with SCD followed at 52 institutions. The median age at malignancy diagnosis was 34 years (range, 14 months-62 years). Twenty-one cases (40%) occurred in pediatric patients, primarily leukemia (n = 7) or Wilms' tumor (n = 5), with 15 children surviving. Most adults had solid tumors, especially carcinomas, and only nine were known to be alive. Three patients received hydroxyurea before the diagnosis of malignancy. These data provide essential baseline information for the accurate interpretation of future reports of malignancy in patients with SCD, especially those receiving hydroxyurea therapy.     

Cardiac manifestations in sickle cell disease varies with patient genotype

Cardiac involvement is well characterized in sickle cell anaemia (SCA) but cardiac features associated with Haemoglobin SC (HbSC) disease are mostly unknown. We compared 60 patients with HbSC disease (median age 31 years, 25 men) to 60 SCA patients and 60 controls matched for age and gender. Left ventricular ejection fraction (LVEF), left ventricle (LV) mass index (LVMi), cardiac index and peak tricuspid regurgitation velocity (TRV) were measured using echocardiography. LV filling pressures were assessed using the ratio of early diastolic transmitral velocity to tissue velocity (E/e’ ratio). The LVMi was higher in both genotypes compared to controls. However, whereas LV hypertrophy was observed only in 3(5%) HbSC patients, this condition was diagnosed in 27(45%) SCA patients (P < 0·0001). While cardiac index and TRV were similar in HbSC compared to controls, SCA patients exhibited elevated cardiac output and TRV. LVEF was similar in the 3 groups. However, both genotypes had a higher E/e’ ratio compared to controls. Cardiac involvement in SCA was related to anaemia and haemolysis, while LV diastolic dysfunction and TRV in HbSC disease patients were related to arterial hypertension and overweight comorbidities. In summary, cardiac involvement and its determinants are different in HbSC disease and SCA. Patient's genotype should be considered with regard to the echocardiographic indications and findings.     

Urgent transcatheter aortic valve replacement for severe acute aortic regurgitation following open mitral valve surgery

Transcatheter aortic valve replacement (TAVR) is not currently approved for pure native valve aortic incompetence, and is typically performed on a compassionate basis in selected patients who are at high risk for conventional surgery. We describe the first use of TAVR to treat iatrogenic severe acute pure aortic incompetence following mitral valve surgery. A 71‐year‐old gentleman developed life‐threatening acute aortic regurgitation (AR) within hours of a very challenging fifth open heart mitral valve replacement. Careful inspection of echocardiographic and computed tomographic imaging identified the cause as a disrupted left coronary cusp at the commissure caused by the surgical mitral annular reconstruction. Medical management with afterload reduction failed with recurrent pulmonary edema, and a sixth open heart surgery was deemed prohibitively high risk. The lack of aortic annular calcium onto which anchors a transcatheter valve was a concern for TAVR. However, we postulated that the struts of the mitral valve bioprosthesis would offer some support to the TAVR valve. We opted for a self‐expanding system because of concerns about potential unfavorable interaction between the balloon onto which balloon‐expandable bioprosthesis is mounted and the struts of the mitral bioprosthesis, and because the Evolut R system has additional anchoring points at the crown which might enhance transcatheter valve stability in the non‐calcified annulus, compared with the Edwards Sapien system. Transfemoral TAVR, performed with a Medtronic Evolut R 34 mm system under general anesthesia and using moderately rapid ventricular pacing, was successful with minimal residual AR. On follow‐up 1 month later the patient was asymptomatic, and the aortic and mitral bioprostheses were functioning normally on echocardiogram.     

Mitral valve repair for ischemic mitral regurgitation: lessons from the Cardiothoracic Surgical Trials Network randomized study

Approximately 30% to 50% of patients will develop ischemic mitral regurgitation (MR) after a myocardial infarction, which is a result of progressive left ventricular remodeling and dysfunction of the subvalvular apparatus, and portends a poor long-term prognosis. Surgical treatment is centered on mitral valve repair utilizing a restrictive annuloplasty, or valve replacement with preservation of the subvalvular apparatus. In the recent Cardiothoracic Surgical Trials Network (CSTN) study, patients with severe ischemic MR were randomized to mitral valve repair with a restrictive annuloplasty versus chordal-sparing valve replacement, and concomitant coronary artery bypass grafting, if indicated. At 2-year follow-up, mitral valve repair was associated with a significantly higher incidence of moderate or greater recurrent MR and heart failure, with no difference in the indices of left ventricular reverse remodeling, as compared with valve replacement. The current appraisal aims to provide insight into the CSTN trial results, and discusses the evidence supporting a pathophysiologic-guided repair strategy incorporating combined annuloplasty and subvalvular repair techniques to optimize the outcomes of mitral valve repair in ischemic MR.