Corrigendum: Evaluation of PIK3CA mutations in advanced ER+/HER2-breast cancer in Portugal - U-PIK Project.

[This corrects the article DOI: 10.3389/fmolb.2023.1082915.].

Cardiac magnetic resonance patterns of left ventricular remodeling in patients with severe aortic stenosis referred to surgical aortic valve replacement.

Left ventricular (LV) hypertrophy is a common finding in patients with severe aortic stenosis (AS). Cardiac magnetic resonance (CMR) is the gold-standard technique to evaluate LV remodeling. Our aim was to assess the prevalence and describe the patterns of LV adaptation in AS patients before and after surgical aortic valve replacement (AVR). Prospective study of 130 consecutive patients (71y [IQR 68-77y], 48% men) with severe AS, referred for surgical AVR. Patterns of LV remodeling were assessed by CMR. Besides normal LV ventricular structure, four other patterns were considered: concentric remodeling, concentric hypertrophy, eccentric hypertrophy, and adverse remodeling. At baseline CMR study: mean LV indexed mass: 81.8 ± 26.7 g/m2; mean end-diastolic LV indexed volume: 85.7 ± 23.1 mL/m2 and median geometric remodeling ratio: 0.96 g/mL [IQR 0.82-1.08 g/mL]. LV hypertrophy occurred in 49% of subjects (concentric 44%; eccentric 5%). Both normal LV structure and concentric remodeling had a prevalence of 25% among the cohort; one patient had an adverse remodeling pattern. Asymmetric LV wall thickening was present in 55% of the patients, with predominant septal involvement. AVR was performed in 119 patients. At 3-6 months after AVR, LV remodeling changed to: normal ventricular geometry in 60%, concentric remodeling in 27%, concentric hypertrophy in 10%, eccentric hypertrophy in 3% and adverse remodeling (one patient). Indexes of AS severity, LV systolic and diastolic function and NT-proBNP were significantly different among the distinct patterns of remodeling. Several distinct patterns of LV remodelling beyond concentric hypertrophy occur in patients with classical severe AS. Asymmetric hypertrophy is a common finding and LV response after AVR is diverse.

Histopathological Myocardial Changes in Patients with Severe Aortic Stenosis Referred for Surgical Valve Replacement: A CMR Correlation Study.

Myocardial fibrosis (MF) takes part in left ventricular (LV) remodeling in patients with aortic stenosis (AS), driving the transition from hypertrophy to heart failure. The structural changes that occur in this transition are not fully enlightened. AIM: to describe histopathology changes at endomyocardial biopsy (EMB) in patients with severe AS referred to surgical aortic valve replacement (AVR); to correlate them with LV tissue characterization from pre-operative cardiac magnetic resonance (CMR). METHODS: one-hundred-fifty-eight patients (73[68-77]years, 50%women) referred for surgical AVR because of severe symptomatic AS, with pre-operative CMR (n = 143) with late gadolinium enhancement (LGE), T1, T2 mapping and extracellular volume fraction (ECV) quantification. Intra-operative septal EMB was obtained in 129 patients. MF was assessed through Masson´s Trichrome histochemistry. Immunohistochemistry was performed for both inflammatory cells and extracellular matrix (ECM) characterization (Type I Collagen, Fibronectin, Tenascin C). RESULTS: non-ischemic LGE was present in 106 patients (67.1%) (median fraction:5.0% [2.0-9.7]). Native T1 was above normal: 1053 ms[1024-1071] and T2 within normal range (39.3 ms[37.3-42.0]). Median MF was 11.9%[6.54-19.97], with predominant type I collagen perivascular distribution (95.3%). Subendocardial cardiomyocyte ischemic-like changes were identified in 45% of EMB. There was no inflammation, despite ECM remodeling expression. MF quantification at EMB was correlated with LGE mass (p = 0.008) but not with global ECV (p = 0.125). CONCLUSION: patients with severe symptomatic AS referred for surgical AVR have unspecific histological myocardial changes, including signs of cardiomyocyte ischemic insult. ECM remodeling is ongoing, with MF heterogeneity. These features may be recognized by comprehensive CMR protocols. However, no single CMR parameter captures the burden of MF and histological myocardial changes in this setting.

Healthcare Experience of People with Acute Spinal Cord Injury: A Phenomenological Study.

Living with spinal cord injury (SCI) is a challenge that begins in the acute phase, when the disease, the limitations, and the treatments fill the days at the hospital. This study aims to understand the healthcare experience of the person with SCI in the acute phase, based on the Activities of Living Nursing Model (ALNM). It is a qualitative and phenomenological study based on the Standards for Reporting Qualitative Research. Data were collected via semi-structured interviews. Content analysis was performed using the ATLAS.ti software and Bardin's methodology. The article was written following the COREQ guidelines. The categories were defined using the Roper-Logan-Tierney Model for Nursing. The sample included 16 people with incomplete SCI, different etiology, and neurological levels. Eleven of the twelve ALNM emerged from the interviews. The activities of mobilizing, eliminating, maintaining a safe environment, and communicating were emphasized the most. Controlling body temperature was not relevant. Mobility deficits and pain increased dependence. Feelings of motivation, encouragement, and frustration were highlighted. Professional expertise, rehabilitation resources, and support equipment promoted independence. The results in this sample revealed that people with SCI in the acute phase have complex challenges related to dependence awareness and treatments, but they always keep recovery expectations in mind.

Is myocardial fibrosis appropriately assessed by calibrated and 2D strain derived integrated backscatter?

AIMS: Increased collagen content of the myocardium modifies tissue reflectivity and integrated backscatter (IBS) indexes are suggested as markers of myocardial fibrosis (MF). We sought to assess the correlation between calibrated (c) IBS and bidimensional (2D) strain derived IBS with left ventricular (LV) MF in patients with severe aortic stenosis (AS). METHODS AND RESULTS: We made a prospective observational cohort study including 157 patients with severe AS referred for surgical aortic valve replacement (AVR), with complete preoperative transthoracic echocardiography, cardiac magnetic resonance (CMR) and endomyocardial biopsy (EMB) obtained from the anterior basal septum at the time of surgery. Two groups of 30 patients were specifically evaluated, with and without late gadolinium enhancement (LGE) at CMR. IBS was obtained at QRS peak from both parasternal long axis (PLAX) and apical-three-chamber (AP3C) views and measured in decibels (dB). Whole-cardiac cycle IBS at basal anterior septum was obtained from 2D longitudinal strain. Correlation analysis of reflectivity indexes was performed with global and segmental (anterior basal septum) values of native T1 and extracellular volume (ECV), and EMB collagen volume fraction (CVF) (Masson´s Trichrome). IBS values were compared in both group of patients (LGE + vs. LGE -). 60 patients (74 [36-74] years, 45% male) with high gradient (mean gradient: 63 ± 20mmHg), normal flow (45 ± 10mL/m2) AS and preserved left ventricular ejection fraction (60 ± 9%) were included. Basal septum cIBS was - 17.45 (-31.2-10.95) and - 9.17 ± 9.45dB from PLAX and A3C views, respectively. No significant correlations were found between IBS and both non-invasive CMR tissue characterization and CVF: median MF of 9.7(2.1-79.9)%. Acoustic indexes were not significantly different according to the presence of pre-operative LGE. CONCLUSION: In this group of patients with classical severe AS, IBS reflectivity indexes are of no added value to discriminate the presence of MF.

Posing as Ascites: A Case Report on Neurogenic Lower Urinary Tract Dysfunction.

Lower urinary tract dysfunction (LUTD) is a frequently neglected and underdiagnosed condition, especially in cases of neurogenic etiology where no other neurological deficits are present. The evaluation of the integrity of the spinal cord segments responsible for the neurophysiologic control of the bladder and sphincters is fundamental for correctly establishing a neurogenic etiology. We present the case of a 52-year-old female complaining of abdominal pain, new onset of urinary straining, a slow/intermittent stream, and stress incontinence, following inpatient admission for a history of constitutional syndrome and falls. A fluid wave sign was observed on physical examination. An abdominal CT scan showed bladder hyperdistention and an L5 body compression fracture. A urinary catheter was placed, draining 2,000 mL of urine. On neuro-urological examination, diminished anal sphincter tone, diminished voluntary anal contraction, and absent left anal reflex were noted. Findings on the urodynamic study further favored the diagnosis of lower motor neuron bladder dysfunction. This case report demonstrates how the neurologic examination of the sacral segments S2-S4 allowed the diagnosis and subsequent management of an initially unexplained bladder dysfunction, as our clinical findings were compatible with damage to the sacral roots. The complete neuro-urological examination is fundamental for correctly determining the neurogenic etiology of LUTD and should be routinely integrated into the neurological evaluation.

Evaluation of PIK3CA mutations in advanced ER+/HER2-breast cancer in Portugal - U-PIK Project.

Background: Around 40% of ER+/HER2-breast carcinomas (BC) present mutations in the PIK3CA gene. Assessment of PIK3CA mutational status is required to identify patients eligible for treatment with PI3Kα inhibitors, with alpelisib currently the only approved tyrosine kinase inhibitor in this setting. U-PIK project aimed to conduct a ring trial to validate and implement the PIK3CA mutation testing in several Portuguese centers, decentralizing it and optimizing its quality at national level. Methods: Eight Tester centers selected two samples of patients with advanced ER+/HER2- BC and generated eight replicates of each (n = 16). PIK3CA mutational status was assessed in two rounds. Six centers used the cobas® PIK3CA mutation test, and two used PCR and Sanger sequencing. In parallel, two reference centers (IPATIMUP and the Portuguese Institute of Oncology [IPO]-Porto) performed PIK3CA mutation testing by NGS in the two rounds. The quality of molecular reports describing the results was also assessed. Testing results and molecular reports were received and analyzed by U-PIK coordinators: IPATIMUP, IPO-Porto, and IPO-Lisboa. Results: Overall, five centers achieved a concordance rate with NGS results (allele frequency [AF] ≥5%) of 100%, one of 94%, one of 93%, and one of 87.5%, considering the overall performance in the two testing rounds. NGS reassessment of discrepancies in the results of the methods used by the Tester centers and the reference centers identified one probable false positive and two mutations with low AF (1-3%, at the analytical sensitivity threshold), interpreted as subclonal variants with heterogeneous representation in the tissue sections processed by the respective centers. The analysis of molecular reports revealed the need to implement the use of appropriate sequence variant nomenclature with the identification of reference sequences (HGVS-nomenclature) and to state the tumor cell content in each sample. Conclusion: The concordance rates between the method used by each tester center and NGS validate the use of the PIK3CA mutational status test performed at these centers in clinical practice in patients with advanced ER+/HER2- BC.

Prevalence and significance of relative apical sparing in aortic stenosis: insights from an echo and cardiovascular magnetic resonance study of patients referred for surgical aortic valve replacement.

AIMS: This study aims to assess the prevalence of relative apical sparing pattern (RASP) in patients with severe symptomatic aortic stenosis (AS), referred for surgical aortic valve replacement (AVR), to evaluate its significance, possible relation to amyloid deposition, and persistence after surgery. METHODS AND RESULTS: Prospective study of 150 consecutive patients [age 73 (interquartile range: 68-77), 51% women], with severe symptomatic AS referred to surgical AVR. All patients underwent cardiac magnetic resonance (CMR) before surgery. RASP was defined by [average apical longitudinal strain (LS)/(average basal LS + average mid LS)] > 1 by echocardiography. AVR was performed in 119 (79.3%) patients. Both Congo red and sodium sulphate-Alcian blue (SAB) stain were used to exclude amyloid on septal myocardial biopsy. LV remodelling and tissue characterization parameters were compared in patients with and without RASP. Deformation pattern was re-assessed at 3-6 months after AVR.RASP was present in 23 patients (15.3%). There was no suspicion of amyloid at pre-operative CMR [native T1 value 1053 ms (1025-1076 ms); extracellular volume (ECV) 28% (25-30%)]. None of the patients had amyloid deposition at histopathology. Patients with RASP had significantly higher pre-operative LV mass and increased septal wall thickness. They also had higher N-terminal pro b-type natriuretic peptide (NT-proBNP) levels [1564 (766-3318) vs. 548 (221-1440) pg/mL, P = 0.010], lower LV ejection fraction (53.7 ± 10.5 vs. 60.5 ± 10.2%, P = 0.005), and higher absolute late gadolinium enhancement (LGE) mass [9.7 (5.4-14.1) vs. 4.8 (1.9-8.6) g, P = 0.016] at CMR. Follow-up evaluation after AVR revealed RASP disappearance in all except two of the patients. CONCLUSION: RASP is not specific of cardiac amyloidosis. It may also be found in severe symptomatic AS without amyloidosis, reflecting advanced LV disease, being mostly reversible after surgery.

Infective Endocarditis: A Prospective Registry Of Surgical Lesions.

INTRODUCTION: Infective endocarditis morbidity and mortality remains high. Surgery is performed in about half of endocarditis cases, being the ideal setting to evaluate endocarditis lesions. The aim of this study was to register and describe endocarditis lesions found during surgery; find predictors of morbidity and mortality and correlate lesions found in echocardiogram vs. surgery. MATERIALS AND METHODS: One hundred consecutive patients with endocarditis lesions seen during surgery were included between June 2014 and August 2018. Pathological lesions were coded prospectively using a coding form published by Pettersson et al. Other data were collected retrospectively. RESULTS: Prosthetic endocarditis accounted for 23% of cases. Embolic events had occurred in 41% of cases, mainly to the brain (22%). The most frequent lesions found in echocardiogram were vegetations (77%). Vegetations and valve integrity anomalies were the main lesions described during surgery (70% and 71% respectively). Invasion was present in 39% of patients. In-hospital mortality was 9%. In univariable analysis, predictors of early mortality included chronic kidney disease (P= .005), prosthetic valve endocarditis (P <.001), EuroSCORE II (P <.001) and valve integrity anomalies (P=.016). Predictors of embolic events included aortic valve vegetations seen during surgery (P= .026). Sensitivity and specificity of echocardiogram findings for identification of vegetations were 84% and 40%, for valve integrity anomalies 42% and 97% and for invasion 54% and 95%, respectively. CONCLUSIONS: Diversity of lesions found in endocarditis precludes obtaining significant predictors of morbidity or mortality with small numbers of patients. Echocardiogram lacks sensitivity for valve integrity anomalies and invasion but is highly specific.

Secondary mitral regurgitation: Maintaining coherence with the American Society of Echocardiography grading guidelines, which proportionality concept best predicts prognosis in the real world?

INTRODUCTION: Proportionality of secondary mitral regurgitation (sMR) may be a key factor in deciding whether a patient may benefit from mitral intervention. The aim of this study was to evaluate the prognostic value of two different concepts of proportionality and assess their ability to improve MR stratification proposed by the American Society of Echocardiography (ASE) guidelines. METHODS: We conducted a retrospective analysis in patients with reduced left ventricular ejection fraction (LVEF) (<50%) and at least mild sMR. Proportionality status was calculated using formulas proposed by a) Grayburn et al. - disproportionate sMR defined as EROALVEDV >0.14; b) Lopes et al. - disproportionate sMR whenever measured EROA>theoretical EROA (determined as 50%×LVEF×LVEDVMitralVTI). Primary endpoint was all-cause mortality. RESULTS: A total of 572 patients (69±12 years; 76% male) were included. Mean LVEF was 33±9%, with a median left ventricular end-diastolic volume of 174 mL [136;220] and a median effective regurgitant orifice area of 14 mm2 [8;22]. During mean follow-up of 4.1±2.7 years, there were 254 deaths. There was considerable disagreement (p<0.001) between both formulas: of 96 patients with disproportionate sMR according to Lopes' criteria, 46 (48%) were considered proportionate according to Grayburn's; and of 62 patients with disproportionate sMR according to Grayburn's, 12 (19%) were considered proportionate according to Lopes' formula. In multivariate analysis, only Lopes' definition of disproportionate sMR maintained independent prognostic value (hazard ratio 1.5; 95% confidence interval 1.07-2.1, p=0.018) and improved the risk stratification of ASE sMR classification. CONCLUSION: Of the two formulas available to define disproportionate sMR, Lopes' model emerged as the only one with independent prognostic value while improving the risk stratification proposed by the ASE guidelines.

A Patent Foramen Ovale Grants Cardiac Output Over an Obstructive Primary Cardiac Lymphoma.

Primary cardiac lymphomas are extremely rare and involve mainly the pericardium. We present the case of a 77-year-old man with a germinal center diffuse large B-cell lymphoma causing severe right ventricular inflow obstruction. Clinical presentation of isolated dyspnea and severe desaturation and cyanosis were, otherwise, unexpected. (Level of Difficulty: Beginner.).

Impact of common rhythm disturbances on echocardiographic measurements and interpretation.

Transthoracic echocardiography (TTE) remains the workhorse of noninvasive cardiac imaging, allowing to easily obtain precise information on cardiac structure and function. Over time, Doppler interrogation of blood flow velocities, direction, and timing in several locations within the heart became the primary method for haemodynamic assessment, replacing cardiac catheterization in most clinical settings and providing valuable diagnostic and prognostic information on a wide spectrum of cardiac pathological processes. Abnormalities in heart rate, rhythm, and intracardiac electrical conduction are commonly encountered during the performance of echocardiographic studies. Up to now, only a modest attention has been given to the impact of these abnormalities on the reading and interpretation of echocardiographic examination and this assessment has not yet been carried out in a global and systematic way. Tachyarrhythmias, bradyarrhythmias and atrioventricular conduction disturbances influence cardiac structure and mechanics as well as Doppler flow patterns. For this reason, and to be able to avoid misinterpretation, echocardiographers must be aware of the consequences of these common rhythm disturbances on echocardiographic findings. This narrative review aims to describe the current knowledge on this topic, focusing on the expected mechanical effects and Doppler patterns observed on transthoracic echocardiography in patients with common rhythm (tachycardia and bradycardia, atrial flutter and fibrillation and ectopic beats) and conduction disturbances (namely, atrioventricular block).

Severe hypoxemia in a patient with right ventricular myocardial infarction and SARS-CoV-2 infection.

BACKGROUND: Refractory hypoxemia after right ventricular myocardial infarction and concomitant SARS-CoV-2 infection represents an uncommon, yet particularly challenging clinical scenario. We report a challenging diagnostic case of refractory hypoxemia due to right-to-left shunt highlighting contemporary challenges and pitfalls in acute cardiovascular care associated with the current COVID-19 pandemic. CASE PRESENTATION: A 52-year-old patient admitted for inferior acute myocardial infarction developed rapidly worsening hypoxemia shortly after primary percutaneous coronary intervention. RT-PCR screening for SARS-CoV-2 was positive, even though the patient had no prior symptoms. A computed tomography pulmonary angiogram excluded pulmonary embolism and showed only mild interstitial pulmonary involvement of the virus. Transthoracic echocardiogram showed severe right ventricular dysfunction and significant right-to-left shunt at the atrial level after agitated saline injection. Progressive improvement of right ventricular function allowed weaning from supplementary oxygen support. Patient was latter discharged with marked symptomatic improvement. CONCLUSION: Refractory hypoxemia after RV myocardial infarction should be carefully addressed, even in the setting of other more common and tempting diagnoses. After exclusion of usual etiologies, right-to-left shunting at the atrial level should always be suspected, as this may avoid unnecessary and sometimes harmful interventions.

The many paths to diagnose diaphragmatic paralysis: Cardiopulmonary ultrasound on stage.

Abnormal diaphragmatic motion (ADM) due to phrenic nerve injury is a recognized complication of cardiac surgery and several diagnostic techniques can be used to determine the diagnosis. Due to its relationship with the diaphragm, cardiac kinetics is affected by the abnormal movement of the diaphragm in cases of left hemidiaphragm paralysis. The authors present a case of diaphragmatic paralysis in which the initial diagnosis is made through echocardiography.

EACVI recommendations on cardiovascular imaging for the detection of embolic sources: endorsed by the Canadian Society of Echocardiography.

Cardioaortic embolism to the brain accounts for approximately 15-30% of ischaemic strokes and is often referred to as 'cardioembolic stroke'. One-quarter of patients have more than one cardiac source of embolism and 15% have significant cerebrovascular atherosclerosis. After a careful work-up, up to 30% of ischaemic strokes remain 'cryptogenic', recently redefined as 'embolic strokes of undetermined source'. The diagnosis of cardioembolic stroke remains difficult because a potential cardiac source of embolism does not establish the stroke mechanism. The role of cardiac imaging-transthoracic echocardiography (TTE), transoesophageal echocardiography (TOE), cardiac computed tomography (CT), and magnetic resonance imaging (MRI)-in the diagnosis of potential cardiac sources of embolism, and for therapeutic guidance, is reviewed in these recommendations. Contrast TTE/TOE is highly accurate for detecting left atrial appendage thrombosis in patients with atrial fibrillation, valvular and prosthesis vegetations and thrombosis, aortic arch atheroma, patent foramen ovale, atrial septal defect, and intracardiac tumours. Both CT and MRI are highly accurate for detecting cavity thrombosis, intracardiac tumours, and valvular prosthesis thrombosis. Thus, CT and cardiac magnetic resonance should be considered in addition to TTE and TOE in the detection of a cardiac source of embolism. We propose a diagnostic algorithm where vascular imaging and contrast TTE/TOE are considered the first-line tool in the search for a cardiac source of embolism. CT and MRI are considered as alternative and complementary tools, and their indications are described on a case-by-case approach.

Is autonomic dysreflexia a cause of respiratory dysfunction after spinal cord injury?

INTRODUCTION: Spinal cord injury (SCI) often leads to impairment of the respiratory system. In fact, respiratory insufficiency is a significant cause of mortality and morbidity following SCI, related to the extent and level of the neurologic injury and its effects on the respiratory muscles (reduction in respiratory muscle strength and fatigue due to a reduction in inspiratory capacity, atelectasis and ineffective coughing). Less commonly recalled is the fact that autonomic dysreflexia (AD) is the result of parasympathetic imbalance. However, AD results from a massive, unrestrained outpouring of norepinephrine from the peripheral sympathetic ganglia. More accurately, the vagal (parasympathetic) response to this sympathetic discharge may have been responsible for the respiratory changes reported. This is not described in medical literature, although breathing difficulty is named as a common symptom and sign. The objective of this report is to describe a clinical case for the first time, that of T4 AIS (American spinal injury association impairment scale) A in which AD leads to acute respiratory insufficiency. CASE REPORT: A patient with prior history of spinal cord injury, T4 AIS A, was admitted to the Inpatient Unit to improve her respiratory function and autonomy and to discontinue the ventilation maintained after an episode of pneumonia. The patient developed AD during the rehabilitation programme, namely during hamstring stretching exercises. Besides persistent hypertension, cutaneous rash, hyperhidrosis and light-headedness, the patient was diagnosed with acute respiratory insufficiency, with desaturation and hypercapnia. The patient fully recovered, in terms of the signs and symptoms of AD, with the cessation of noxious stimulation and oxygen administration. DISCUSSION: To date, the association between AD and acute respiratory insufficiency has not been described in spinal cord injury or rehabilitation literature. This case draws attention for the first time to the possibility that respiratory insufficiency is one of the signs associated with episodes of AD and highlights the need to look at this possibility.

Cardiac tumors: three decades of experience from a tertiary center: are we changing diagnostic work-up with new imaging tools?

BACKGROUND: Primary cardiac tumours are relatively rare. Cardiac myxomas are the most prevalent and in a significant proportion of cases they are accidentally discovered in asymptomatic patients. Noninvasive definitive diagnosis remains challenging despite improvements provided by newer imaging tools. Our aim was to describe the long-term experience of a tertiary cardiac center managing cardiac tumours. METHODS: We analyzed 154 consecutive patients admitted to a single-tertiary center with the diagnosis of a cardiac mass or tumor between 1990 and 2018. Data files including clinical presentation, noninvasive investigations, presumptive diagnosis and histopathology were collected. The follow-up was obtained from clinical records or telephone contact. RESULTS: In 154 patients with a median age at diagnosis of 61 (51-71) years, 62% were females. Anatomopathology studywas obtained in 144 cases, from which 81% were benign tumours (106 myxomas; 11 papillary fibroelastomas). In comparison with malignant lesions, patients with benign tumours were older (62 versus 48 years) and more often women (65% versus 27%, P = .021). Incidental diagnosis of a benign tumor occurred in 36% of the cases. Transthoracic echocardiography was the initial technique for diagnostic suspicion in the great majority of patients. Both cardiac computed tomography and magnetic resonance were rarely performed before excision. Imaging based (mostly echocardiography) pre-operative presumptive diagnosis was discordant with histopathologic findings in 21% of the benign and in 55% of malignant lesions (previously considered as benign). Uncommon histologic findings were found in 18% of myxomas. During the follow-up period of 11 ± 12 years there were 12 recurrences. CONCLUSION: Among surgically excised cardiac tumours benign cardiac tumors are far more common than both primary and secondary malignancies. In this series of patients, there was a significant proportion of asymptomatic lesions. Preoperative misdiagnosis could be related to the scarce use of adjunctive noninvasive imaging tools beyond echocardiography. Preoperative noninvasive investigation should be expanded to improve diagnostic presumption and better plan the best therapeutic approach.

The importance of the clinical examination of the lower sacral segments: Four case reports.

CONTEXT: In our practice, in a spinal cord injury unit, clinical examinations include anal sensation and voluntary anal contraction, which are essential for neurological classification of spinal cord injury according to international standards (ISNCSCI), but we also always examine the integrity of the sacral segments, testing anal tone and anal and bulbocavernosus reflexes (S2-S4 segments) and the dartos reflex to evaluate the thoracolumbar sympathetic pathway. FINDINGS: In this paper, we describe four case reports of bladder dysfunction in which a clinical examination of the lower sacral segments was decisive to identify the neurological etiology. CONCLUSION/CLINICAL RELEVANCE: These cases, in patients with unexplained bladder dysfunction, highlight the importance of clinical testing the sacral segments, as part of the neurological examination, otherwise sacral lesions may remain undetected.

Surgical pathology of subaortic septal myectomy: histology skips over clinical diagnosis.

BACKGROUND: Subaortic septal myectomy is usually performed to mitigate obstruction in patients with the obstructive form of hypertrophic cardiomyopathy (HCM) or in those with congenital subaortic stenosis. Moreover, it is combined with aortic valve replacement in patients with severe aortic valve stenosis (SAS) and asymmetrical septal hypertrophy causing concomitant left ventricular outflow tract obstruction. When both conditions coexist, it is conceptually difficult to identify a cardiomyopathy beyond an adaptive myocardial hypertrophy, strictly related to pressure overload. Myectomy histopathology might be useful to enlighten the cause of the obstruction and establish the diagnosis. AIM: The aim was to describe the pathological findings of surgical septal myectomy specimens obtained from a group of patients with diverse clinical diagnosis, including HCM, severe aortic stenosis, and asymmetrical septal hypertrophy. METHODS: This was a retrospective study of 56 patients undergoing septal myectomy along a 10-year period at a tertiary cardiac surgical center. Clinical, interventional, and anatomopathological findings between patients with and without a preoperative diagnosis of HCM were analyzed and compared. RESULTS: Mean age at intervention was 67.5±20.5 years; 37 (66.1%) were female Preoperative diagnosis of sarcomeric obstructive HCM was assumed in 23 (41.1%) patients. All the other patients (58.9%) were referred for surgery with preoperative diagnosis of asymmetric septal hypertrophy, mainly in the context of severe aortic stenosis (24 patients). Twenty-seven (48.2%) patients had a greater than 30 mmHg intraventricular gradient at rest. Patients with presumed HCM were significantly younger (56.5±15.8 vs. 70.2±13.3 years, P<.001), had higher prevalence of significant intraventricular obstruction at rest [20 (87.0%) vs. 8 (34.8%), P<.001], and more frequently had moderate or severe mitral regurgitation [9 (39.1%) vs. 5(15.1%), P=.043]. All patients with aortic valve stenosis underwent both aortic valve replacement and septal myectomy. Twelve (52.1%) of the patients with obstructive HCM had isolated septal myectomy, while in the remaining 11, the procedure was combined with intervention on the mitral valve. Histopathological final diagnosis was of nonspecific reactive myocardial hypertrophy in all but 4 (92.2%) patients. In those, 2 (3.6%) had the final diagnosis of HCM and 2 (3.6%) the diagnosis of congenital subaortic membranous stenosis with reactive myocardial hypertrophy. Different grades of subendocardial fibroelastosis and myocardial fibrosis, mainly interstitial, were present [27 (48.2%) and 18 (32%) patients, respectively]. When microscopic data were compared between patients with or without a preoperative clinical diagnosis of HCM, no significant differences were found. CONCLUSION: In patients submitted to surgical septal myectomy, histology was mostly indistinctive among different clinical entities. Since different myocardial hypertrophy etiologies may share similar pathological expression, there is a need for detailed clinical assessment when trying to define the best strategy for clinical management.