Clinical difference between identical twins with sickle cell anemia / Diferenças clínicas entre gêmeas idênticas com anemia falciforme

ABSTRACT Sickle cell anemia (SCA) is a genetic disease that causes important clinical manifestations due to chronic hemolysis and vascular occlusion. The aim of this study was to report a rare case of monozygotic twins diagnosed with SCA, presenting a different clinical characteristic. An interview with the patients was carried out and the medical records were consulted. One patient has a history of malleolar ulcer in the left back, while the other does not. Both patients used hydroxyurea at the same dosage. This study shows that SCA presents, in addition to genetic factors, non-genetic factors involved in the severity of the disease and its clinical manifestations. Studies are needed that may contribute to the understanding of the clinical heterogeneity of SCA.

RESUMEN La anemia de células falciformes (ACF) es una enfermedadgenética que causa importantes manifestaciones clínicas debido a la anemia hemolítica crónica y a la oclusión vascular. El objetivo de este estudio fue reportar un caso raro de gemelas monocigóticas con diagnóstico de ACF, presentando una característica clínica diferente. Se realizó una entrevista con las pacientes, consultándose sus fichas médicas. Una paciente tiene historia de úlcera maleolar en la región izquierda, mientras la otra no. Ambas hacían tratamiento con hidroxiurea en la misma dosis. Este estudio demuestra que la ACF presenta, además de factores genéticos, factores no genéticos involucrados en la severidadde la enfermedad y sus manifestaciones clínicas. Son necesarios estudios que contribuyan para la comprensión de la heterogeneidad clínica de la ACF.

RESUMO A anemiafalciforme (AF) é uma doença genética que causa importantes manifestações clínicas devido à hemólise crônica e à oclusão vascular. O objetivo deste estudo foi relatar um caso raro de gêmeas univitelinas com diagnóstico de AF, apresentando uma característica clínica diferente. Uma entrevista com as pacientes foi realizada, e os prontuários foram consultados. Uma paciente tem história de úlcera maleolar na região esquerda, enquanto a outra não. Ambas as pacientes faziam tratamento com hidroxiureia na mesma dosagem. Este estudo mostra que a AF apresenta, além de fatores genéticos, fatores não genéticos envolvidos na gravidade da doença e suas manifestações clínicas, sendo necessários estudos quepossam contribuir para o entendimento da heterogeneidade clínica da AF.

Double-Blind Clinical Trial of Arginine Supplementation in the Treatment of Adult Patients with Sickle Cell Anaemia.

BACKGROUND: Sickle cell anaemia (SCA) is the most prevalent monogenic disease in Brazil. In SCA, haemoglobin S (HbS) is formed, which modifies red blood cell morphology. Intravascular haemolysis occurs, in which free Hb and free radicals degrade nitric oxide (NO) and release arginase, which reduces arginine levels. Because arginine is a substrate for NO formation, this decrease leads to reduced NO (vasodilator) synthesis. SCA treatment uses hydroxyurea (HU) to maintain high foetal haemoglobin (HbF) levels and reduces HbS to avoid haemolytic episodes. OBJECTIVE: To analyse the efficacy of L-arginine as an adjuvant in the treatment of SCA patients. SETTING: The State Blood Centre of Ceará, Brazil. METHODS: This was a randomized double-blind clinical study of adults with SCA with continuous use of HU at the State Blood Centre of Ceará. The clinical study enrolled 25 patients receiving HU + L-arginine (500 mg) and 25 patients receiving HU + placebo. The treatment was carried out over four months. Laboratory tests were performed to determine the levels of the following: (1) complete blood count; (2) nitrite + nitrate; (3) HbF; and (4) reticulocytes. The clinical experiments were performed by a haematologist. The main outcome measures were nitrite and pain. RESULTS: Statistical analysis showed that the levels of NO were increased in the study group, and there was also a reduction in pain frequency using a pain frequency scale by day, week, and month. The levels of nitrite plus nitrate in the group receiving placebo plus HU did not change among the times evaluated (38.27 ± 17.27 mg/L, 39.49 ± 12.84 mg/L, 34.45 ± 11.25 mg/L, p >0.05), but in the patients who received supplementation with L-arginine plus HU, a significant increase in nitrite plus nitrate levels was observed between M0 and M4 (36.55 ± 20.23 mg/L versus 48.64 ± 20.63 mg/L, p =0.001) and M2 and M4 (35.71 ± 15.11 mg/L versus 48.64 ± 20.63 mg/L, p <0.001). It is important to note that the increase in nitrite plus nitrate levels occurred only in the fourth month of follow-up of patients in the treatment group, showing that at least 4 months of supplementation with L-arginine is necessary to show an increase in these metabolites in the serum. CONCLUSION: The use of L-arginine as a coadjuvant in the treatment of sickle cell anaemia may function as a potential tool for pain relief, consequently improving the life of patients.

Coronary Embolization from a Left Atrial Myxoma Containing Malignant Lymphoma Cells.

Systemic embolization from a primary cardiac tumor is a relatively frequent presentation. However, an acute myocardial infarction due to coronary embolization is rarely seen. We offer an unusual case of a 50-year-old man who presented with severe angina and was diagnosed with an inferolateral ST-segment-elevation myocardial infarction. Aside from otherwise healthy coronary arteries, his coronary angiogram revealed an acute occlusion of the first obtuse marginal branch, which was treated with balloon angioplasty. Because no residual plaque or dissection was found after the angioplasty, an embolic source was suspected. An echocardiogram then revealed a large mobile left atrial myxoma prolapsing into the left ventricle, so the patient underwent minimally invasive resection. Detailed pathologic examination of the myxoma revealed a concomitant high-grade B-cell lymphoma.

Same-day discharge or overnight stay after percutaneous coronary intervention: comparison of net adverse cardiovascular events.

BACKGROUND: Same-day discharge after percutaneous coronary intervention (PCI), if achieved with acceptable safety, could result in greater patient satisfaction and potential cost savings. Comparative analyses reporting the safety outcomes of same-day discharge vs overnight stay after elective PCI are lacking. METHODS: Data of same-day discharge and overnight-stay patients undergoing elective PCI in a high-volume center were compared. We specifically evaluated the incidence of net adverse cardiovascular events (NACE; i.e., death, myocardial infarction, stroke, target vessel revascularization, vascular complication, and major bleeding) within 48 hours post index procedure among both groups and at 30 days. RESULTS: A total of 188 cases were evaluated, with 93 discharged the same day and 95 after overnight stay following elective PCI. Baseline characteristics were similar, except for older age (73.0 ± 7 years vs. 64.0 ± 12 years; P<.001), more prior PCI (49.5% vs. 34.7%; P<.001), and prior coronary artery bypass graft surgery (16.1% vs. 11.6%; P=.01) in the same-day discharge group. Procedural characteristics were similar in both groups. No significant difference in the NACE rate was found between the groups at 48 hours (0 [0%] vs. 2 [2.1%]; P=.25) or at 30 days (3 [3.2%] vs. 6 [6.3%]; P=.26). CONCLUSION: In the population studied, same-day discharge after PCI is safe and feasible. Adequately powered randomized prospective studies are necessary to confirm these results.

Usefulness of the troponin-ejection fraction product to differentiate stress cardiomyopathy from ST-segment elevation myocardial infarction.

The presentation of stress cardiomyopathy (SC) with nonobstructive coronary artery disease mimics that of ST-segment elevation myocardial infarction (STEMI) due to coronary occlusion. No single parameter has been successful in differentiating the 2 entities. We thus sought to develop a noninvasive clinical tool to discriminate between these 2 conditions. We retrospectively reviewed 59 consecutive cases of SC at our institution from July 2005 through June 2011 and compared those with 60 consecutives cases of angiographically confirmed STEMI treated with primary percutaneous coronary intervention in the same period. All patients underwent acute echocardiography, and the peak troponin I level was determined. The troponin-ejection fraction product (TEFP) was derived by multiplying the peak troponin I level and the echocardiographically derived left ventricular ejection fraction. Comparing the SC and STEMI groups, the mean left ventricular ejection fraction at the time of presentation was 30 ± 9% versus 44 ± 11%, respectively (p <0.001), and the peak troponin I was 7.6 ± 18 versus 102.2 ± 110.3 ng/dl, respectively (p <0.001). The mean TEFP was thus 182 ± 380 and 4,088 ± 4,244 for the SC and STEMI groups, respectively (p <0.001). Receiver operating characteristic curve analysis showed that a TEFP value ≥250 had a sensitivity of 95%, a specificity of 87%, a negative predictive value of 94%, a positive predictive value of 88%, and an overall accuracy of 91% to differentiate a true STEMI from SC (C-statistic 0.91 ± 0.02, p <0.001). In conclusion, for patients not undergoing emergent angiography, the TEFP may be used with high accuracy to differentiate SC with nonobstructive coronary artery disease from true STEMI due to coronary occlusion.

Wearable cardioverter defibrillator in stress cardiomyopathy and cardiac arrest.

A 57-year-old woman presented with nausea, vomiting and diarrhoea. She had severe hypokalaemia and hypomagnesemia with marked QTc (680 ms) prolongation after suspected viral diarrhoea. She then developed progressive dyspnoea with congestion. An echocardiogram was obtained and showed severe hypokinesis with apical ballooning and hyperdynamic cardiac base, suggestive of stress cardiomyopathy. A repeat ECG showed further prolongation of the QTc (883 ms) and she rapidly developed polymorphic ventricular tachycardia. She underwent cardiac arrest and was successfully resuscitated. A coronary angiogram confirmed the diagnosis of stress cardiomyopathy. We had therapeutic dilemma at discharge to implant a permanent automated implantable cardiac defibrillator in view of the high risk for recurrent ventricular tachycardia, or follow-up for resolution of both reversible causes of the prolonged QTc (stress cardiomyopathy and electrolytes abnormalities). We suggested an alternate treatment for sudden death prevention in high risk patients who have reversible cause for QT interval prolongation.

Asymptomatic anomalous left anterior descending artery arising from the right coronary artery with a rare anterior course.

The presence of a malignant course on the coronary circulation is the second leading cause of sudden cardiac death in young adults. One type of malignant conformation is an anomalous left anterior descending artery (LAD) arising from the right coronary artery (RCA). In a study examining 70,850 patients undergoing coronary angiography, the prevalence of this anomaly was noted in 0.006% of total patients and in 2.3% of congenital coronary anomaly cases. Of the four patients presenting with this anomaly, only one was noted to have an interarterial course of the LAD between the aorta and pulmonary artery. We describe the case of a patient who was incidentally found to have a malignant anomalous LAD arising from the RCA when he presented with a non-ST elevation myocardial infarction due to a ruptured plaque in an obtuse marginal branch. This patient survived for 57 years with no symptoms.

A meta-analysis of transcatheter closure of patent foramen ovale versus medical therapy for prevention of recurrent thromboembolic events in patients with cryptogenic cerebrovascular events.

OBJECTIVES: We sought to perform a meta-analysis of randomized controlled trials (RCTs) comparing percutaneous patent-foramen-ovale (PFO) closure with medical therapy for preventing recurrent thromboembolic events after cryptogenic stroke. BACKGROUND: Observational studies suggested that transcatheter PFO closure decreases recurrent events after cryptogenic stroke; however, three recent RCTs failed to demonstrate such benefit. METHODS: Trials were identified from the PubMed and Cochrane databases. Primary endpoint was the composite of transient ischemic attack (TIA) and ischemic cerebrovascular events (CVA). Both intention-to-treat (ITT) and as-treated analyses (AT) were performed. RESULTS: Three RCTs met inclusion criteria. The pooled data provided 2,303 patients, of which 1,150 were in the PFO closure group and 1,153 in the medical therapy group. In the ITT analysis, there were 43 events (3.7%) of the composite end point in the closure group compared with 61 events (5.3%) in the medical therapy group, with a trend in favor of the PFO closure (OR = 0.70; 95% CI, 0.47-1.05, P = 0.08). The incidences of TIA, ischemic CVA, and bleeding were not statistically different between the groups. There was a trend for the more frequent occurrence of atrial fibrillation in the PFO closure group (OR = 3.29; 95% CI, 0.86-12.60, P = 0.08). In the AT analysis, the composite end point was significantly less frequent in the PFO closure group (OR = 0.62; 95% CI, 0.41-0.94, P = 0.02). CONCLUSIONS: In this meta-analysis of contemporary RCTs, successful transcatheter closure of PFO might be more effective than medical therapy alone for the prevention of recurrent thromboembolic events.

Outcomes of minimally invasive triple valve surgery performed via a right anterior thoracotomy approach.

BACKGROUND AND AIM OF THE STUDY: The feasibility of minimally invasive triple valve surgery performed via a right anterior thoracotomy approach was evaluated. METHODS: A retrospective analysis was conducted on all patients who underwent minimally invasive triple valve surgery via a right anterior thoracotomy approach at the authors' institution between December 2009 and February 2013. The operative times and intensive care unit and hospital lengths of stay, postoperative complications, and mortality were analyzed. RESULTS: Six patients (three males, three females; mean age 76.7 +/- 5.4 years) were identified. Five patients had a prosthetic aortic valve, and one patient had an aortic valve repaired by commissuroplasty. In four patients the mitral valve repair was effected with an annuloplasty ring, while in two patients a transaortic edge-to-edge mitral valve repair was performed. All patients had tricuspid valve repair with a ring annuloplasty. The median aortic cross-clamp time was 136 min (IQR: 119-188 min), and the median cardiopulmonary bypass time was 185 min (IQR: 145-231 min). The median intensive care unit and hospital lengths of stay were 62 h (IQR: 50-111 h) and 12 days (IQR: 7-23 days), respectively. There were no postoperative cerebrovascular accidents, myocardial infarctions or acute kidney injuries. Two patients developed post-surgical atrial fibrillation, and two died at 30 days postoperatively. CONCLUSION: In patients requiring triple valve surgery, a minimally invasive approach performed via a right anterior thoracotomy may be a feasible option in these high-risk patients.

Clinical predictors of prosthesis-patient mismatch after aortic valve replacement for aortic stenosis.

OBJECTIVE: We sought to ascertain predictors of Patient Prosthesis Mismatch, an independent predictor of mortality, in patients with aortic stenosis using bioprosthetic valves. METHOD: We analyzed 2,107 sequential surgeries. Patient Prosthesis Mismatch was calculated using the effective orifice area of the prosthesis divided by the patient's body surface area. We defined nonsignificant, moderate, and severe Patient Prosthesis Mismatch as effective orifice area indexes of .0.85 cm(2)/m, 0.85-0.66 cm(2)/m(2), and <0.65 cm(2)/m(2), respectively. RESULTS: A total of 311 bioprosthetic patients were identified. The incidence of nonsignificant, moderate, and severe Patient Prosthesis Mismatch was 41%, 42, and 16%, respectively. Severe Patient Prosthesis Mismatch was significantly more prevalent in females (82%). In severe Patient Prosthesis Mismatch, the perfusion and the crossclamp times were considerably lower when compared with nonsignificant Patient Prosthesis Mismatch and moderate Patient Prosthesis Mismatch. Patients with severe Patient Prosthesis Mismatch had a significantly higher likelihood of spending time in the intensive care unit and a significantly longer length of stay in the hospital. Body surface area was not different in severe Patient Prosthesis Mismatch when compared with nonsignificant Patient Prosthesis Mismatch. In-hospital mortality in patients with nonsignificant, moderate, and severe Patient Prosthesis Mismatch was 2.3%, 6.1%, and 8%, respectively. Minimally invasive surgery was significantly associated with moderate Patient Prosthesis Mismatch in 49% of the patients, but not with severe Patient Prosthesis Mismatch. CONCLUSION: Severe Patient Prosthesis Mismatch is more common in females, but not in those with minimal available body surface area. Though operative times were shorter in these patients, intensive care unit and hospital lengths of stay were longer. Surgeons and cardiologists should be cognizant of these clinical predictors and complications prior to valve surgery.

Clinical predictors of prosthesis-patient mismatch after aortic valve replacement for aortic stenosis

OBJECTIVE: We sought to ascertain predictors of Patient Prosthesis Mismatch, an independent predictor of mortality, in patients with aortic stenosis using bioprosthetic valves. METHOD: We analyzed 2,107 sequential surgeries. Patient Prosthesis Mismatch was calculated using the effective orifice area of the prosthesis divided by the patient's body surface area. We defined nonsignificant, moderate, and severe Patient Prosthesis Mismatch as effective orifice area indexes of .0.85 cm²/m, 0.85-0.66 cm²/m², and <0.65 cm²/m², respectively. RESULTS: A total of 311 bioprosthetic patients were identified. The incidence of nonsignificant, moderate, and severe Patient Prosthesis Mismatch was 41 percent, 42, and 16 percent, respectively. Severe Patient Prosthesis Mismatch was significantly more prevalent in females (82 percent). In severe Patient Prosthesis Mismatch, the perfusion and the crossclamp times were considerably lower when compared with nonsignificant Patient Prosthesis Mismatch and moderate Patient Prosthesis Mismatch. Patients with severe Patient Prosthesis Mismatch had a significantly higher likelihood of spending time in the intensive care unit and a significantly longer length of stay in the hospital. Body surface area was not different in severe Patient Prosthesis Mismatch when compared with nonsignificant Patient Prosthesis Mismatch. In-hospital mortality in patients with nonsignificant, moderate, and severe Patient Prosthesis Mismatch was 2.3 percent, 6.1 percent, and 8 percent, respectively. Minimally invasive surgery was significantly associated with moderate Patient Prosthesis Mismatch in 49 percent of the patients, but not with severe Patient Prosthesis Mismatch. CONCLUSION: Severe Patient Prosthesis Mismatch is more common in females, but not in those with minimal available body surface area. Though operative times were shorter in these patients, intensive care unit and hospital lengths of stay were longer. Surgeons and cardiologists should be cognizant of these clinical predictors and complications prior to valve surgery.

The characteristics of stress cardiomyopathy in an ethnically heterogeneous population.

OBJECTIVES: Stress cardiomyopathy is a cardiac syndrome that is characterized by transient left ventricular systolic dysfunction in the absence of obstructive coronary artery disease. Its epidemiology has been described in homogeneous Asian, Caucasian and Black populations, but its characteristics in heterogeneous populations are poorly understood. Our aim was to assess the characteristics of stress cardiomyopathy in a heterogeneous population that included a large percentage of Hispanics. METHODS: We reviewed 59 consecutive cases of stress cardiomyopathy that were confirmed by coronary angiography and were in agreement with the Mayo Clinic diagnostic criteria. RESULTS: The mean age of the patients was 74 years (range, 39-91 years), and 37 patients were female (62.7%). Twenty-nine patients (49.2%) were Latino/Hispanic, 26 (44%) were Caucasian, 3 (5%) were Asian, and 1 patient (1.7%) was Black. The most common chief symptom was dyspnea, followed by chest pain and an absence of symptoms in 54.2, 28.8, and 18.6% of the patients, respectively. The primary EKG abnormalities consisted of a T wave inversion, an ST segment elevation, and ST segment depression in 69.5%, 25.4%, and 15.3% of the patients, respectively. The stressor event was identified in 90% of the cases. In 32 cases (54%), the stressor event was physical stress or a medical illness, and in 21 cases (35.6%), the stressor event was emotional stress. The in-hospital mortality rate was 8.5%. CONCLUSIONS: In our heterogeneous study population, stress cardiomyopathy presented with a 3:2 female-to-male ratio, and dyspnea was the most common chief complaint. Stress cardiomyopathy exhibited a T wave inversion as the primary EKG abnormality. These findings differ from previous cases that have been reported, and further studies are needed.

The characteristics of stress cardiomyopathy in an ethnically heterogeneous population

OBJECTIVES: Stress cardiomyopathy is a cardiac syndrome that is characterized by transient left ventricular systolic dysfunction in the absence of obstructive coronary artery disease. Its epidemiology has been described in homogeneous Asian, Caucasian and Black populations, but its characteristics in heterogeneous populations are poorly understood. Our aim was to assess the characteristics of stress cardiomyopathy in a heterogeneous population that included a large percentage of Hispanics. METHODS: We reviewed 59 consecutive cases of stress cardiomyopathy that were confirmed by coronary angiography and were in agreement with the Mayo Clinic diagnostic criteria. RESULTS: The mean age of the patients was 74 years (range, 39-91 years), and 37 patients were female (62.7 percent). Twenty-nine patients (49.2 percent) were Latino/Hispanic, 26 (44 percent) were Caucasian, 3 (5 percent) were Asian, and 1 patient (1.7 percent) was Black. The most common chief symptom was dyspnea, followed by chest pain and an absence of symptoms in 54.2, 28.8, and 18.6 percent of the patients, respectively. The primary EKG abnormalities consisted of a T wave inversion, an ST segment elevation, and ST segment depression in 69.5 percent, 25.4 percent, and 15.3 percent of the patients, respectively. The stressor event was identified in 90 percent of the cases. In 32 cases (54 percent), the stressor event was physical stress or a medical illness, and in 21 cases (35.6 percent), the stressor event was emotional stress. The in-hospital mortality rate was 8.5 percent. CONCLUSIONS: In our heterogeneous study population, stress cardiomyopathy presented with a 3:2 female-to-male ratio, and dyspnea was the most common chief complaint. Stress cardiomyopathy exhibited a T wave inversion as the primary EKG abnormality. These findings differ from previous cases that have been reported, and further studies are needed.