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ABSTRACT Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia affecting almost exclusively females. It is caused by loss-of-function mutations in the inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma gene, formerly known as NF-κB essential modulator. The disorder is typically identified by peculiar skin findings that develop throughout the 1st year of life. Approximately one-third of patients has ocular and neurologic abnormalities causing severe disability. Defects of hair, nails, and teeth can also occur. Among systemic complications, pulmonary arterial hypertension (PAH) is uncommon but potentially life-threatening. Only six cases have been described in the literature so far, and four of them died before reaching 1 year of age. Herein, we report the case of a 2-month-old girl with IP and severe PAH, successfully treated with pulmonary antihypertensive and anti-inflammatory therapy.

Cor triatriatum dexter (CTD) is an extremely uncommon and underreported congenital cardiac anomaly in which the persistence of the embryonic right venous valve separates the right atrium into two chambers with varying degrees of obstruction to antegrade flow and variable degree of right to left shunt at atrial level. Depending on the size of the valves, clinical manifestations vary from absence of symptoms to severe hypoxia, requiring urgent surgical correction. We herein describe the diagnostic difficulties in a case of neonatal CTD, who developed increasingly severe and unresponsive cyanosis, first interpreted as postnatal maladjustment with pulmonary hypertension. The failure to respond to oxygen and pulmonary vasodilators led us to reconsider a different diagnosis. The use of contrast echocardiography improved the diagnostic performance of transthoracic echocardiogram (TTE) and revealed a massive right-to-left shunt secondary to the presence of an atrial membrane that required urgent surgery.

Patent ductus arteriosus closure by catheter-based interventions has become the preferred therapeutic choice. However, hemodynamic perturbances associated to this procedure have not yet been investigated. This study sought to examine the on-site hemodynamic impact caused by the procedure in preterm neonates. In this study, hemodynamic monitoring was obtained in a non-invasive way using electrical cardiometry in five preterm infants who underwent percutaneous patent ductus arteriosus closing at ASST Grande Ospedale Metropolitano Niguarda of Milan. All five infants underwent successful transcatheter closures. All patients experienced immediate hemodynamic changes upon ductal closing. Significative modifications occurred mainly in heart contractility, cardiac output, and stroke volume. In three cases, there was also a significative increase of systemic vascular resistance which persisted for 4 h after closing. While in two cases they spontaneously reduced with an amelioration of cardiac output and contractility, in the other case they were persistently high, associated with an hypertensive crisis and a progressive reduction of cardiac functions. For these reasons, milrinone was started and hemodynamic parameters returned normal in about 3 h, so therapy was discontinued. Conclusions: Our single-center, prospective, consecutive, case series demonstrated hemodynamic aberrations due to sudden closure of a patent ductus arteriosus. Moreover, post procedural hemodynamic monitoring is important to precociously detect possible cardiac impairment and start an adequate therapy.What is Known:• It has previously suggested a temporarily impairment in cardiac output following patent ductus arteriosus closing.• Little is known about the other hemodynamic parameters during the procedure and how they change in the next hours according to the new hemodynamic status.What is New:• The persistence of increased systemic vascular resistance after percutaneous closure of ductus arteriosus could suggest the occurrence of hemodynamic complications.• Electrical cardiometry was useful to early detect postoperative hemodynamic changes.

Myocardial ischemia in pediatric population is uncommon and usually due to congenital heart disease or extracardiac conditions leading to poor coronary perfusion. A 6-day-old newborn presented with respiratory distress and signs of heart failure. ECG, echocardiography, and laboratory results were consistent with myocardial ischemia. Coronary angiography was performed to exclude anomalous origin of coronary arteries, showing normal coronary artery origin and course. Thrombophilia and extra-cardiac causes were ruled out. Clinical conditions improved with mechanical ventilation and diuretics, enzyme levels lowered, repolarisation and systolic function abnormalities regressed, but ischemic electrocardiographic and echocardiographic signs still presented during intense crying. Becaues of suspicion of microvascular angina, therapy with ASA and beta-blocker was started. At 5 month followup, the baby was in good clinical condition and no more episodes were recorded. We believe it is an interesting case, as no similar cases have been recorded till now.

PurposeTo evaluate the diagnostic accuracy of a deep learning (DL) algorithm predicting hemodynamically significant coronary artery disease (CAD) by using a rest dataset of myocardial computed tomography perfusion (CTP) as compared to invasive evaluation.MethodsOne hundred and twelve consecutive symptomatic patients scheduled for clinically indicated invasive coronary angiography (ICA) underwent CCTA plus static stress CTP and ICA with invasive fractional flow reserve (FFR) for stenoses ranging between 30 and 80%. Subsequently, a DL algorithm for the prediction of significant CAD by using the rest dataset (CTP-DLrest) and stress dataset (CTP-DLstress) was developed. The diagnostic accuracy for identification of significant CAD using CCTA, CCTA + CTP stress, CCTA + CTP-DLrest, and CCTA + CTP-DLstress was measured and compared. The time of analysis for CTP stress, CTP-DLrest, and CTP-DLStress was recorded.ResultsPatient-specific sensitivity, specificity, NPV, PPV, accuracy, and area under the curve (AUC) of CCTA alone and CCTA + CTPStress were 100%, 33%, 100%, 54%, 63%, 67% and 86%, 89%, 89%, 86%, 88%, 87%, respectively. Patient-specific sensitivity, specificity, NPV, PPV, accuracy, and AUC of CCTA + DLrest and CCTA + DLstress were 100%, 72%, 100%, 74%, 84%, 96% and 93%, 83%, 94%, 81%, 88%, 98%, respectively. All CCTA + CTP stress, CCTA + CTP-DLRest, and CCTA + CTP-DLStress significantly improved detection of hemodynamically significant CAD compared to CCTA alone (p < 0.01).Time of CTP-DL was significantly lower as compared to human analysis (39.2 ± 3.2 vs. 379.6 ± 68.0 s, p < 0.001).ConclusionEvaluation of myocardial ischemia using a DL approach on rest CTP datasets is feasible and accurate. This approach may be a useful gatekeeper prior to CTP stress..

Non-ischemic cardiomyopathies represent a heterogeneous group of myocardial diseases potentially leading to heart failure, life-threatening arrhythmias, and eventually death. Myocardial dysfunction is associated with different underlying pathological processes, ultimately inducing changes in morphological appearance. Thus, classification based on presenting morphological phenotypes has been proposed, i.e., dilated, hypertrophic, restrictive, and right ventricular cardiomyopathies. In light of the key diagnostic and prognostic role of morphological and functional features, cardiovascular imaging has emerged as key element in the clinical workflow of suspected cardiomyopathies, and above all, cardiovascular magnetic resonance (CMR) represents the ideal technique to be used: thanks to its physical principles, besides optimal spatial and temporal resolutions, incomparable contrast resolution allows to assess myocardial tissue abnormalities in detail. Traditionally, weighted images and late enhancement images after gadolinium-based contrast agent administration have been used to perform tissue characterization, but in the last decade quantitative assessment of pre-contrast longitudinal relaxation time (native T1), post-contrast longitudinal relaxation time (post-contrast T1) and transversal relaxation time (T2), all displayed with dedicated pixel-wise color-coded maps (mapping), has contributed to give precious knowledge insight, with positive influence of diagnostic accuracy and prognosis assessment, mostly in the setting of the hypertrophic phenotype. This review aims to describe the available evidence of the role of mapping techniques in the assessment of hypertrophic phenotype, and to suggest their integration in the routine CMR evaluation of newly diagnosed cardiomyopathies with increased wall thickness.

Ductal patency of preterm infants is potentially associated with long term morbidities related to either pulmonary overflow or systemic steal. When an interventional closure is needed, it can be achieved with either surgical ligation or a catheter-based approach. Transcatheter PDA closure is among the safest of interventional cardiac procedures and it is the first choice for ductal closure in adults, children, and infants weighing more than 6 kg. In preterm and very low birth weight infants, it is increasingly becoming a valid and safe alternative to ligation, especially for the high success rate and the minor invasiveness and side effects. Nevertheless, being it performed at increasingly lower weights and gestational ages, hemodynamic complications are possible events to be foreseen. Procedural steps, timing, results, possible complications and available monitoring systems, as well as future outlooks are here discussed.

Objectives Computed tomography (CT) provides excellent anatomy assessment of the aortic annulus (AoA) and is utilized for pre-procedural planning of transcatheter aortic valve implantation (TAVI). We sought to investigate if geometrical characteristics of the AoA determined by CT may represent predictors of structural valve degeneration (SVD) in patients undergoing TAVI with balloon-expandable valves. Methods This is a retrospective study on 124 consecutive patients (mean age: 79 ± 7 years; female: 61%) undergoing balloon-expandable TAVI prospectively enrolled in a registry . AoA maximum diameter ( D max ), minimum diameter ( D min ), and area were assessed using pre-procedural CT. SVD was identified during follow-up with transthoracic echocardiography documenting structural prosthetic valve abnormalities with or without hemodynamic changes. Results The mean follow-up was 5.9 ± 1.7 years. SVD was found in 48 out of 124 patients (38%). AoA D max , D min , and area were significantly smaller in patients with SVD compared to patients without SVD (25.6 ± 2.2 mm vs. 27.1 ± 2.8 mm, p = 0.012; 20.5 ± 2.1 mm vs. 21.8 ± 2.1 mm, p = 0.001 and 419 ± 77 mm 2 vs. 467 ± 88 mm 2 , p = 0.002, respectively). At univariable analysis, female sex, BSA, 23-mm prosthetic valve size, D max < 27.1 mm, and a D min < 19.9 mm were associated with SVD, whereas at multivariable analysis, only D min < 19.9 mm (OR = 2.873, 95% CI: 1.191–6.929, p = 0.019) and female sex (OR = 2.659, 95% CI: 1.095–6.458, p = 0.031) were independent predictors of SVD. Conclusions Female sex and AoA D min < 19.9 mm are associated with SVD in patients undergoing TAVI with balloon-expandable valves. When implanting large prostheses in order to avoid paraprosthetic regurgitation, caution should be observed due to the risk of excessive stretching of the AoA D min, which may play a role in SVD. Key Points • Long-term durability is a concern for transcatheter aortic valve bioprosthesis. • CT provides an excellent assessment of the aortic annulus’s geometrical characteristics for prosthesis sizing before transcatheter aortic valve implantation (TAVI). • Female sex and a small minimum aortic annulus diameter measured with CT are independent predictors of structural valve degeneration in patients undergoing TAVI with balloon-expandable valves.

Introduction Delirium is common in critically ill patients and impact in-hospital mortality in patients with pneumonia. The aim of the study was to evaluate the prevalence of delirium symptoms during hospitalization in patients with severe pneumonia and their impact on one-year mortality. Methods This was an observational, retrospective, cohort study of consecutive patients admitted to the respiratory high dependency unit of the San Gerardo University Hospital, Monza, Italy, between January 2009 and December 2012 with a diagnosis of severe pneumonia. A search through the charts looking for ten key words associated with delirium (confusion, disorientation, altered mental status, delirium, agitation, inappropriate behavior, mental status change, inattention, hallucination, lethargy) was performed by a multidisciplinary team. The primary endpoint was mortality at one-year follow-up. Secondary endpoint was in-hospital mortality. Results A total of 172 patients were enrolled (78 % males; median age 75 years). At least one delirium symptom was detected in 53 patients (31 %) during hospitalization. The prevalence of delirium symptoms was higher among those who died during hospitalization vs. those who survived (44 vs. 27 %, p  = 0.049, respectively). Seventy-one patients (46 %) died during the one-year follow-up. The prevalence of at least one delirium symptom was higher among those who died than those who survived during the one-year follow-up (39 vs. 21 %, p  = 0.014, respectively). At the multivariable logistic regression analysis, after adjustment for age, comorbidities and severe sepsis, the presence of at least one delirium symptom during hospitalization was an independent predictor of one-year mortality (OR 2.35; 95 % CI 1.13–4.90; p  = 0.023). Conclusions Delirium symptoms are independent predictors of one-year mortality in hospitalized patients with severe pneumonia. Further studies should confirm our results using prospective methods of collecting data.

Stress computed tomography perfusion (Stress-CTP) and computed tomography-derived fractional flow reserve (FFRCT) are functional techniques that can be added to coronary computed tomography angiography (cCTA) to improve the management of patients with suspected coronary artery disease (CAD). This retrospective analysis from the PERFECTION study aims to assess the impact of their availability on the management of patients with suspected CAD scheduled for invasive coronary angiography (ICA) and invasive FFR. The management plan was defined as optimal medical therapy (OMT) or revascularization and was recorded for the following strategies: cCTA alone, cCTA+FFRCT, cCTA+Stress-CTP and cCTA+FFRCT+Stress-CTP. In 291 prospectively enrolled patients, cCTA+FFRCT, cCTA+Stress-CTP and cCTA+FFRCT+Stress-CTP showed a similar rate of reclassification of cCTA findings when FFRCT and Stress-CTP were added to cCTA. cCTA, cCTA+FFRCT, cCTA+Stress-CTP and cCTA+FFRCT+Stress-CTP showed a rate of agreement versus the final therapeutic decision of 63%, 71%, 89%, 84% (cCTA+Stress-CTP and cCTA+FFRCT+Stress-CTP vs cCTA and cCTA+FFRCT: p < 0.01), respectively, and a rate of agreement in terms of the vessels to be revascularized of 57%, 64%, 74%, 71% (cCTA+Stress-CTP and cCTA+FFRCT+Stress-CTP vs cCTA and cCTA+FFRCT: p < 0.01), respectively, with an effective radiation dose (ED) of 2.9 ± 1.3 mSv, 2.9 ± 1.3 mSv, 5.9 ± 2.7 mSv, and 3.1 ± 2.1 mSv. The addition of FFRCT and Stress-CTP improved therapeutic decision-making compared to cCTA alone, and a sequential strategy with cCTA+FFRCT+Stress-CTP represents the best compromise in terms of clinical impact and radiation exposure.