The Appraisal of Adults with Congenital Heart Disease: Lesson from Comparison of Surgical Outcomes.

The population of adults with congenital heart disease (ACHD) is constantly growing. There seems to be a consensus that these patients are difficult to manage especially if compared to patients with acquired heart disease. The aim of this study is to compare outcomes and results of cardiac surgery in ACHD patients with a reference population of adults with acquired cardiac disease. Retrospective study of 5053 consecutive patients older than 18 years hospitalized for cardiac surgery during a 5-years period in our Institution. Two groups of patients were identified. Group I: 419 patients operated for congenital heart disease; Group II: 4634 patients operated for acquired heart disease. In each Group were identified low, medium, and high-risk patients, according to validated scores. Right ventricular outflow tract surgery was the most frequent procedure in Group I, while coronary artery by-pass grafting was the most common in Group II. Patients with ACHD were younger (37.8 vs. 67.7 years), with higher number of previous operations (32.1% vs. 6.9%), had longer post-ICU hospital stay (11 vs. 8 days) but had lower ICU stay (1 vs. 2 days), shorter assisted mechanical ventilation (12 vs. 14 h) and lower surgical mortality (1 vs. 3.7%) (all p < 0.001). No differences were found in term of post-operative complications (12.4 vs. 15%). The surgical treatment of ACHD patients can be done with excellent results and if compared with acquired cardiac disease patients they have better results with shorter ICU stay and lower mortality.

Morbidity and mortality in adults with a Fontan circulation beyond the fourth decade of life.

AIMS: To evaluate the late outcomes of adults (above 35 years) with a Fontan-type circulation, for whom current data on morbidity and mortality are lacking. METHODS AND RESULTS: Data were collected retrospectively on consecutive patients with Fontan circulation above the age of 35 years followed in three European specialist centres. Overall, 115 Fontan patients were included [median age 35 (range 35-48) years, 47.8% female]. The most common underlying congenital heart disease diagnosis was tricuspid atresia (n = 58, 50.4%), and the age at first Fontan completion was 9.1 (interquartile range 5.0-15.8) years. Almost two-thirds (61.7%) of patients had undergone an atriopulmonary Fontan, and 23.5% had received a total cavopulmonary connection. One-third required repeat surgery or intervention. Most patients (55.9%) were in New York Heart Association functional class II or class I (30.6%), 76 (66.1%) patients had experienced at least one arrhythmia, and eight (7.0%) protein-losing enteropathy. At a median follow-up of 5.0 (2.4-10.3) years, 15 (13.0%) patients were referred for transplantation assessment and 19 (16.5%) patients died, mainly from heart failure (84.2%). Univariable predictors of death or transplantation included lower serum albumin level [hazard ratio (HR) 1.09 per g/L decrease, 95% confidence interval (CI): 1.04-1.15, P = 0.0009], prior heart failure admission (HR 4.28, 95% CI:1.75-10.44, P = 0.001), prior atrial tachycardia or flutter (HR 3.02, 95% CI: 1.23-7.38, P = 0.02), and baseline pulmonary vasodilator therapy (HR 8.59, 95% CI:1.05-70.13, P = 0.04). Lower serum albumin and prior atrial tachycardia or flutter remained significant on bivariable analysis. CONCLUSION: Our study highlights the significant morbidity and mortality in older adults with a Fontan-type circulation, emphasizing the need for lifelong specialist surveillance with frequent risk stratification, close monitoring, and early consideration for transplantation assessment.

This study sheds light on the complex medical journey of adults living with the outcomes of Fontan surgery­a procedure performed in early childhood. These individuals have reached the milestone of their forties and beyond, yet they confront an array of significant health challenges that necessitate lifelong, individualized congenital heart disease care. The key findings are as follows:While adults with Fontan circulation are living longer, they are at high risk of death, mainly due to heart failure. They also face a host of other health issues, including the need for additional surgeries or interventions. Nearly two-thirds have experienced some form of heart rhythm problem, and a substantial number eventually require evaluation for a heart transplant.Heart transplants within this group were rare, which may be linked to the various barriers to transplantation in the Fontan population. Moreover, those with multiple indicators of advanced disease have a heightened risk of life-threatening events, reinforcing the critical need for personalized and continuous specialist care designed to meet their distinct health requirements.

Holographic Techniques as a Novel Method for Intervention Planning: A Tertiary Centres Experience.

Advanced holographic visualization techniques are becoming increasingly important in clinical practice, not only for diagnostic purposes but also in the planning of interventional or surgical procedures. The traditional approach for visualizing anatomic structures is based on standard imaging modalities such as echocardiography, cardiac magnetic resonance (CMR) and cardiac CT scan (CCT) which, however, can only provide two-dimensional (2D) images thus limiting 3D perception. Many recent studies have shown that the use of 3D imaging modalities such as augmented reality, virtual reality, mixed reality and holography improve the short and long-term outcome of percutaneous or surgical procedures. In this article, we report our experience on the use of the hologram in different clinical scenarios and in the field of university education.

Acute myocarditis as first presentation of severe ulcerative colitis in a young man. Multidisciplinary management and long-term follow-up.

Myocarditis is a rare extra-intestinal complication of inflammatory bowel disease (IBD), in particular, ulcerative colitis.We report a case of acute myocarditis as first manifestation of severe ulcerative colitis. A 22-year-old man was admitted with fever, bloody diarrhea, and fatigue. He had suffered from frequent bloody diarrhea, abdominal pain, fatigue, and weight loss for one month. A 12-lead-electrocardiogram showed sinus rhythm with QRS fragmentation and T waves inversion. High sensitivity troponin-I was elevated and the echocardiogram showed a mild pericardial effusion and inferior hypokinesia with normal ejection fraction. Cardiac magnetic resonance disclosed late enhancement in the inferior wall, corroborating the hypothesis of myocarditis. One week later, a colonoscopy revealed severe ulcerative extensive colitis (Mayo subscore 3). 5-aminosalicylic acid (mesalazine) and systemic steroid were started with good clinical and biochemical response. The following days the patient developed mesalazine hepatic and pancreatic induced toxicity requiring drug discontinuation and strict multi-disciplinary follow-up. At 7 months follow-up intestinal symptoms were well controlled with complete normalization of liver and pancreatic enzymes. Transthoracic echocardiography showed normal biventricular function and pericardial effusion resolution.This case underscores the importance of a high suspicion for extra intestinal involvement in patients with IBD. These complications may be multifactorial and need multidisciplinary management. Learning objective: •When a patient was first-time diagnosed with a severe form of inflammatory bowel disease or has a disease relapse, bear in mind myocarditis as possible extra intestinal manifestation.•Multidisciplinary management is crucial to ensure the best level of care and follow-up in a such challenging and insidious clinical picture.

First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome.

Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder, the features of the syndrome are: chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation resulting in dwarfism, teeth and craniofacial abnormalities and heart defects (mostly endocardial cushions and atrial septal defects). We describe the first case reported of COVID-19 infection in a 24-years-old girl, diagnosed with EVC syndrome. The patient suffered only from a mild illness, she remained stable with normal saturation without need of neither respiratory support nor specific therapy and she was rapidly discharged. This case appraises the pathophysiological interplay between different specific prognostic variable in a syndromic patient with congenital heart disease and COVID-19. In patients with congenital heart disease, comorbidities related to syndromic picture may affect the clinical course of COVID-19 infection regardless of the anatomic complexity.

A case report of late physiologic repair of congenitally corrected transposition of the great arteries and pulmonary stenosis in a severely cyanotic patient: better late than never.

BACKGROUND: Patients with congenitally corrected transposition of great arteries (ccTGA) not infrequently seek medical attention for the first time late in life. Optimal management of natural history ccTGA is debated and must be tailored. CASE SUMMARY: A 38-year-old male patient was referred to our centre because of severe cyanosis and worsening dyspnoea. Investigations disclosed situs solitus, mesocardia, double discordance, large ventricular septal defect (VSD), severe pulmonary stenosis, and no significant atrio-ventricular valves regurgitation. The patient underwent physiologic repair: VSD closure, placement of a left ventricle to pulmonary artery conduit, and epicardial atrio-biventricular pacemaker implantation. The conduit was intentionally undersized to promote tricuspid valve continence. Post-operative course was uneventful, transthoracic echocardiography showed good biventricular function without significant tricuspid regurgitation. At 1 month after discharge, the patient is in New York Heart Association Class II. DISCUSSION: Management of late presenter patients with ccTGA depends on the associated lesion and estimation of surgical risk. In selected patients markedly symptomatic physiologic repair is a rationale option, providing a normal saturation and biventricular circulation with a significantly lower surgical risk as compared with an anatomic repair.

Oncogenesis in patients with congenital heart disease: A possible role of the neural crest.

Patients with congenital heart disease (CHD) seem to have a higher risk for specific malignancies. We hypothesize a pathogenetic link between particular congenital heart defects and cancer originating from specific cellular lineages. We report a series of patients, followed in two high-volume referral centers, with CHD involving neural crest-derived structures who developed cancer later in life. Fourteen patients (five female) developed neoplasia with a cellular origin embryologically linked to the neural crest between 2010 and 2020. If confirmed on larger datasets, this observation might support the hypothesis of common embryogenetic pathway suggesting tailored surveillance of a specific subset of patients.

Lombardy regional urgent reorganization for congenital cardiac patients following the Covid-19 pandemic.

OBJECTIVE: By the end of February 2020, the COVID-19 pandemic infection had spread in Northern Italy, with thousands of patients infected. In Lombardy, the most affected area, the majority of public and private hospitals were dedicated to caring for COVID-19 patients and were organized following the 'Hub-and-Spoke' model for other medical specialties, like cardiac surgery and interventional procedures for congenital cardiac disease (CHD). Here, we report how the congenital cardiac care system was modified in Lombardy and the first results of this organization. METHODS: We describe a modified 'Hub-and-Spoke' model - that involves 59 birthplaces and three specialized Congenital Cardiac Centers -- and how the hub center organized his activity. We also reported the data of the consecutive cases hospitalized during this period. RESULTS: From 9 March to 15 April, we performed: a total of 21 cardiac surgeries, 4 diagnostic catheterizations, 3 CT scans, and 2 CMR. In three cases with prenatal diagnosis, the birth was scheduled. The spoke centers referred to our center six congenital cardiac cases. The postop ExtraCorporeal Membrane Oxygenation support was required in two cases; one case died. None of these patients nor their parents or accompanying person was found to be COVID-19-positive; 2 pediatric intensivists were found to be COVID-19-positive, and needed hospitalization without mechanical ventilation; 13 nurses had positive COVID swabs (4 with symptoms), and were managed and isolated at home. CONCLUSION: Our preliminary data suggest that the model adopted met the immediate needs with a good outcome without increased mortality, nor COVID-19 exposure for the patients who underwent procedures.

QRS fragmentation as a possible electrocardiographic diagnostic marker in patients with acute myocarditis: preliminary histopathological validation.

AIMS: We aim to assess the reproducibility of QRS fragmentation (fQRS) on a multi-centre dataset of patients with acute myocarditis (AM), including a histopathological validation in a subgroup with biopsy-proven disease. Electrocardiogram (ECG) in patients with myocarditis is usually considered aspecific. ST changes and conduction anomalies have been commonly reported so far. We have previously described fQRS in patients with AM. METHODS AND RESULTS: Patients admitted between 2008 and 2019 in two centres with a diagnosis of AM were included. Standard ECG, echocardiography, and cardiac magnetic resonance (CMR) findings were recorded at baseline and at follow-up (FU). Eighty patients were analysed, 66 men (82%), with median age of 34 (26-43) years. Twenty-two patients had biopsy-proven AM. At presentation, 61 patients (76%) displayed fQRS. Median ejection fraction (EF) was 55% (43-60). Seventy-two patients (90%) underwent CMR and displayed late gadolinium enhancement (LGE). ECG leads showed that fQRS correlated with distribution of LGE. In patients with positive biopsy, fQRS was present in 18 (81%). Median FU was 419 days (224-956). Complete FU was available for 64 patients (80%), and 33 patients (52%) displayed persistence of fQRS. Median EF was 60% (57-64). Eleven patients underwent a repeated biopsy at FU, eight of whom had persistent inflammation and fQRS. Fifteen patients (23%) had ventricular tachycardia, 14 of whom still showed fQRS. CONCLUSIONS: In this cohort fQRS was confirmed as an additional useful ECG sign. Persistence of fQRS was associated with ongoing inflammation and with a poorer outcome in terms of ventricular function and occurrence of arrhythmias.

QRS fragmentation in children with suspected myocarditis: a possible additional diagnostic sign.

AIMS: We aim to assess the diagnostic role of QRS fragmentation in children with suspected acute myocarditis. BACKGROUND: Diagnosis of myocarditis in the paediatric population is challenging. Clinical suspicion, electrocardiogram, and laboratory tests are the main diagnostic features at presentation. However, electrocardiogram in patients with myocarditis is usually considered aspecific. We have previously described QRS fragmentation in adult patients with acute myocarditis. METHODS: Patients aged less than 18 years, admitted between 2003 and 2019, and discharged with a diagnosis of acute myocarditis were included. Standard electrocardiogram, laboratory, and echocardiographic findings at admission and follow-up were reviewed. QRS fragmentation was defined by the presence of multiphasic R' spikes. Cardiac magnetic resonance and biopsy were performed in selected patients. RESULTS: Twenty-one patients were analysed, 16 males (76%), median age 9.5 (2.5-16) years. At presentation, 12 patients (57%) displayed QRS fragmentation. Median ejection fraction was 40% (27-60). Nine patients (43%) underwent cardiac magnetic resonance and displayed late gadolinium enhancement. One patient underwent biopsy that showed borderline findings. Electrocardiogram leads showing QRS fragmentation correlated with distribution of late gadolinium enhancement. Median follow-up was 600 (190-2343) days. All patients were alive at last follow-up. Six patients (33%) patients displayed persistence of QRS fragmentation. Median ejection fraction was 60% (60-65%). In three patients (14%), ejection fraction remained depressed, two of which showed persistence of QRS fragmentation. CONCLUSION: In this cohort of children with suspected myocarditis, QRS fragmentation was confirmed as a new additional diagnostic finding to look for at admission and during follow-up.

Exercise Hemodynamic and Functional Capacity After Mitral Valve Replacement in Patients With Ischemic Mitral Regurgitation: A Comparison of Mechanical Versus Biological Prostheses.

BACKGROUND: In patients with ischemic mitral regurgitation requiring mitral valve replacement (MVR), the choice of the prosthesis type is crucial. The exercise hemodynamic and functional capacity performance in patients with contemporary prostheses have never been investigated. To compare exercise hemodynamic and functional capacity between biological (MVRb) and mechanical (MVRm) prostheses. METHODS AND RESULTS: We analyzed 86 consecutive patients with ischemic mitral regurgitation who underwent MVRb (n=41) or MVRm (n=45) and coronary artery bypass grafting. All patients underwent preoperative resting echocardiography and 6-minute walking test. At follow-up, exercise stress echocardiography was performed, and the 6-minute walking test was repeated. Resting and exercise indexed effective orifice areas of MVRm were larger when compared with MVRb (resting: 1.30±0.2 versus 1.19±0.3 cm2/m2; P=0.03; exercise: 1.57±0.2 versus 1.18±0.3 cm2/m2; P=0.0001). The MVRm had lower exercise systolic pulmonary arterial pressure at follow-up compared with MVRb (41±5 versus 59±7 mm Hg; P=0.0001). Six-minute walking test distance was improved in the MVRm (pre-operative: 242±43, post-operative: 290±50 m; P=0.001), whereas it remained similar in the MVRb (pre-operative: 250±40, post-operative: 220±44 m; P=0.13). In multivariable analysis, type of prosthesis, exercise indexed effective orifice area, and systolic pulmonary arterial pressure were joint predictors of change in 6-minute walking test (ie, difference between baseline and follow-up). CONCLUSIONS: In patients with ischemic mitral regurgitation, bioprostheses are associated with worse hemodynamic performance and reduced functional capacity, when compared with MVRm. Randomized studies with longer follow-up including quality of life and survival data are required to confirm these results.

The unnatural history of failing univentricular hearts: outcomes up to 25 years after heart transplantation.

OBJECTIVES: Heart transplantation (HTx) in children with a univentricular physiology is a challenge. In this study, we aimed to investigate the early and late survival as well as the causes of death of HTx recipients at different stages of univentricular palliation. METHODS: Between January 1987 and September 2015, 40 orthotropic cardiac transplants were performed in 38 children with univentricular hearts at our institution. Outcomes were reviewed using medical records and transplant databases. RESULTS: For the purposes of this analysis, patients were divided into 3 subgroups according to their stage of palliation: Stage 1 (n = 10, 26%), Stage 2 (n = 5, 13%) and Fontan (n = 23, 61%). The median age at HTx was 15.2 years (range 0-38). The median follow-up time after transplantation was 8.7 years (range 0-25.4). Indications for transplant were ventricular dysfunction in 25 (66%) patients, protein losing enteropathy in 10 patients transplanted in Fontan (26%) and refractory arrhythmias in 3 (8%) patients with an atriopulmonary connection. Total mortality was 42% (4.84/100 patient-years), and total early mortality was 21%. Overall survival at 1, 10 and 20 years was 73% (95% confidence interval 56-84%), 58% (95% confidence interval 40-72%) and 49% (95% confidence interval 30-65%), respectively. CONCLUSIONS: HTx is a feasible option for patients with failing univentricular circulation, and although the mortality rate is high, this rate is still comparable to that in patients undergoing HTx for other congenital and non-congenital heart diseases.

Endovascular Treatment of Popliteal Artery Aneurysms: A Word of Caution after Long-Term Follow-up.

BACKGROUND: The aim of this work was to evaluate the long-term patency of endografting in the treatment of popliteal artery aneurysms (PAAs) and to identify which factors may be predictors of graft occlusion. METHODS: All the patients who underwent endovascular repair of PAA were analyzed from 2006 until 2014 on the basis of symptoms, comorbidities, limb salvage, and long-term patency. The predictive value of the different variables was assessed in univariate analysis for primary patency and, for factors resulted significant, a multivariate analysis was performed. The Kaplan-Meier life table method was used to calculate patency and limb salvage. RESULTS: We treated 65 PAAs in 57 patients (53 men and 4 women). PAAs were symptomatic in 26 cases (40%) and 34% were the emergency cases; the mean aneurysm size was 33.8 ± 17 mm. Mean follow-up was 35 months ± 25. Graft occlusion occurred in 22 limbs (35%). We had 9 amputations (14.5%). The late conversion to open surgery was 6.4%. The cumulative estimated 60-month primary patency, secondary patency, and limb salvage were respectively 57% (standard error [SE] ±0.7), 73% (SE ±0.7), and 83% (SE ±0.5). We found that diabetes (hazard ratio [HR] 2.936, 95% confidence interval [CI] 0.993-8.683), associated percutaneous transluminal angioplasty (PTA) procedures (HR 2.534, 95% CI 1.115-5.757), symptoms (HR 2.492, 95% CI 1.127-5.510), and runoff scores (HR 2.069, 95% CI 0.942-4.544) were the most important risk factors for long-term patency at univariate analysis. When considering a multivariate analysis symptoms (HR 2.066, 95% CI 0.862-4.952) become the principal risk factor followed by diabetes (HR 1.808, 95% CI 0.531-6.157)], runoff scores (HR 1.716, 95% CI 0.757-3.893) and associated PTA procedures (HR 1.441, 95% CI 0.519-3.839), but no one reached a statistical significance. CONCLUSIONS: On the base of our experience it seems that several factors affect durability in PAA endovascular repair, especially the presence of acute symptoms, diabetes, and runoff. Therefore until further refined clinical studies, we believe that the actual role of this technique must be yet clarified.

Determinants of functional capacity after mitral valve annuloplasty or replacement for ischemic mitral regurgitation.

OBJECTIVE: To identify the exercise echocardiographic determinants of long-term functional capacity, in patients with chronic ischemic mitral regurgitation, after restrictive mitral valve annuloplasty (RMA) or mitral valve replacement (MVR). METHODS: We retrospectively analyzed 121 patients with significant chronic ischemic mitral regurgitation, who underwent RMA (n = 62) or MVR (n = 59), between 2005 and 2011. Preoperatively, all patients underwent a resting echocardiographic examination, and a 6-minute walking test (6-MWT) to measure distance. Resting and exercise stress echocardiography, and the 6-MWT were repeated at 41 ± 16.5 months. RESULTS: After surgery, the 6-MWT distance significantly improved in the MVR group, and decreased in the RMA group (+37 ± 39 m vs -24 ± 49 m, respectively; P < .0001). Exercise indexed effective orifice area was significantly higher in the MVR, versus the RMA, group (MVR: change from 1.3 ± 0.2 cm(2)/m(2) to 1.5 ± 0.3 cm(2)/m(2); RMA: change from 1.1 ± 0.3 cm(2)/m(2) to 1.2 ± 0.3 cm(2)/m(2); P = .001). The mean mitral gradients significantly increased from rest to exercise, in both groups, but to a greater extent in the RMA group (change from 4.4 ± 1.4 to 11 ± 3.6 mm Hg; MVR: change from 4.3 ± 1.8 to 9 ± 3.5 mm Hg; P = .006). On multivariate analysis, MVR and exercise indexed effective orifice area were the main independent determinants of postoperative 6-MWT. In the RMA group, 25 patients experienced late mitral regurgitation recurrence, severe in 9 (14%) of them. The rate of postoperative cardiovascular events was significantly higher in the RMA group (21% vs MVR: 8%; P = .03). Follow-up survival was 83% in the RMA group and 88% in the MVR group (P = .54). CONCLUSIONS: For chronic ischemic mitral regurgitation, MVR versus RMA was associated with better postoperative exercise hemodynamic performance and long-term functional capacity.

How should I treat a challenging case of MitraClip implantation?

BACKGROUND: A 71-year-old woman affected by idiopathic dilated cardiomyopathy with normal coronary arteries and permanent atrial fibrillation was found to have severe mitral regurgitation at transthoracic echocardiography (TTE), due to annular dilatation and restricted motion of the posterior leaflet. Because of poor quality of life, high functional class (NYHA Class III) and the high risk of surgery, the patient agreed to undergo the implantation of a MitraClip device. During the procedure, the transoesophageal echocardiographic (TEE) images were of a poor quality since the view of the mitral valve in the mid-oesophageal and transgastric projections did not accurately show the valve leaflets and the convergence area of the regurgitation at colour Doppler, which is indispensable for the correct positioning of the clip. INVESTIGATION: Physical examination, transthoracic echocardiography, transoesophageal echocardiography. DIAGNOSIS: Severe mitral regurgitation suitable for MitraClip implantation. MANAGEMENT: Transthoracic, and not transoesophageal, echocardiography approach during MitraClip procedure.

Restrictive mitral valve annuloplasty versus mitral valve replacement for functional ischemic mitral regurgitation: an exercise echocardiographic study.

OBJECTIVE: Mitral valve annuloplasty and mitral valve replacement are common strategies for the management of functional ischemic mitral regurgitation with ischemic cardiomyopathy. However, mitral valve annuloplasty may create some degree of functional mitral stenosis. The purpose of this study was to compare the mitral valve hemodynamics in patients with functional ischemic mitral regurgitation undergoing mitral valve annuloplasty or mitral valve replacement, using exercise echocardiography. METHODS: We performed resting and exercise echocardiography in 70 patients matched for indexed effective orifice area, systolic pulmonary arterial pressure, and left ventricular ejection fraction after mitral valve annuloplasty or mitral valve replacement with coronary artery bypass grafting. RESULTS: There was no significant difference between the 2 groups regarding baseline demographic and clinical data. Exercise systolic pulmonary arterial pressure was higher in the mitral valve annuloplasty group compared with the mitral valve replacement group (from 36.3 ± 8.1 mm Hg to 55 ± 12 mm Hg, vs mitral valve replacement: 33 ± 6 mm Hg to 42 ± 6.2 mm Hg, P = .0001). Exercise-induced improvement in effective orifice area and indexed effective orifice area was better in the mitral valve replacement group (mitral valve replacement: +0.23 ± 0.04 vs mitral valve annuloplasty: -0.1 ± 0.09 cm², P = .001, for effective orifice area; mitral valve replacement: +0.14 ± 0.03 vs mitral valve annuloplasty: -0.04 ± 0.07 cm²/m², P = .03, for indexed effective orifice area). Exercise indexed effective orifice area was correlated with exercise systolic pulmonary arterial pressure (r = -0.45; P = .01). In a multivariable analysis mitral valve annuloplasty, postoperative indexed effective orifice area and resting mitral peak gradients were independent predictors of elevated systolic pulmonary arterial pressure during exercise. CONCLUSIONS: In patients with functional ischemic mitral regurgitation, mitral valve annuloplasty may cause functional mitral stenosis, especially during exercise. Mitral valve annuloplasty was associated with poor exercise mitral hemodynamic performance, lack of mitral valve opening reserve, and markedly elevated postoperative exercise systolic pulmonary arterial pressure compared with mitral valve replacement.

Evaluation of 7q31 region improves the accuracy of EGFR FISH assay in non small cell lung cancer.

BACKGROUND: Increase of EGFR gene copy number consequent to gene amplification and/or polysomy of chromosome 7 has been significantly associated with better clinical outcome in Non Small Cell Lung Cancer (NSCLC) patients treated with Tyrosin-Kinase Inhibitors (TKIs).The primary method to detect EGFR copy number is FISH (Fluorescence in Situ Hybridization), that in lung cancer requires a precise standardization due to the presence of intratumor heterogeneity and high frequency of chromosome 7 polysomy. Recommendations and interpretative guidelines to discriminate NSCLC patients into FISH positive (gene amplification and high chromosome 7 polysomy) and FISH negative have been proposed by the University of Colorado Cancer Center (UCCC). However, in a subset of cases the distinction between EGFR amplification and chromosome 7 polysomy can be controversial because of a complex pattern of multiple EGFR and centromere signals. METHODS: In order to distinguish more accurately these two genetic events, 20 NSCLC FISH positive patients, showing a controversial pattern of EGFR and centromere specific signals, were further evaluated for the status of 7q31 distal region. RESULTS: A discrepancy between FISH results obtained with UCCC scoring system and 7q31 control was evidenced in 2 patients (10%). CONCLUSION: Our data strengthen the usefulness of 7q31 region evaluation to discriminate EGFR amplification from chromosome 7 polysomy in controversial EGFR FISH positive cases. Since it has been reported a possible different contribution of amplification and polysomy to TKIs susceptibility in NSCLC, the clear distinction between these two genetic events may be important to identify a subset of patients more responsive to the therapy.