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Cardiac implantable electronic devices (CIED) are very rare in the pediatric population. In children with CIED, transvenous lead extraction (TLE) is often necessary. The course and effects of TLE in children are different than in adults. Thus, this study determined the differences and specific characteristics of TLE in children vs. adults.Methods and Results: A post hoc analysis of TLE data in 63 children (age ≤18 years) and 2,659 adults (age ≥40 years) was performed. The 2 groups were compared with respect to risk factors, procedure complexity, and effectiveness. In children, the predominant pacing mode was a single chamber ventricular system and lead dysfunction was the main indication for lead extraction. The mean implant duration before TLE was longer in children (P=0.03), but the dwell time of the oldest extracted lead did not differ significantly between adults and children. The duration (P=0.006) and mean extraction time per lead (P0.001) were longer in children, with more technical difficulties during TLE in the pediatric group (P0.001). Major complications were more common, albeit not significantly, in children. Complete radiographic and procedural success were significantly lower in children (P0.001).TLE in children is frequently more complex, time consuming, and arduous, and procedural success is more often lower. This is related to the formation of strong fibrous tissue surrounding the leads in pediatric patients.

Background: Lead management in children and young adults is still a matter of debate. Methods: To assess the course of transvenous lead extraction (TLE) in adults with pacemakers implanted in childhood (CIP) we compared 98 CIP patients with a control group consisting of adults with pacemakers implanted in adulthood (AIP). Results: CIP patients differed from AIP patients with respect to indications for TLE and pacing history. CIP patients were four–eight times more likely to require second-line or advanced tools. Furthermore, CIP patients more often than AIP were prone to developing complications: major complications (MC) (any) 2.6 times; hemopericardium 3.2 times; severe tricuspid valve damage 4.4 times; need for rescue cardiac surgery 3.7 times. The rate of procedural success was 11% lower because of 4.8 times more common lead remnants and 3.1 times more frequent permanently disabling complications. Conclusions: Due to system-related risk factors TLE in CIP patients is more difficult and complex. TLE in CIP is associated with an increased risk of MC and incomplete lead removal. A conservative strategy of lead management, acceptable in very old patients seems to be less suitable in CIP because it creates a subpopulation of patients at high risk of major complications during TLE in the future.

Background: Left ventricular noncompaction (LVNC) is a genetically and phenotypically heterogeneous cardiomyopathy in which myocardium consists of two, distinct compacted and noncompacted layers, and prominent ventricular trabeculations and deep intertrabecular recesses are present. LVNC is associated with an increased risk of heart failure, atrial and ventricular arrhythmias and thromboembolic events. Familial forms of primary sinus bradycardia have been attributed to alterations in HCN4. There are very few reports about the association between HCN4 and LVNC. The aim of our study was to characterize the clinical phenotype of families with LVNC and sinus bradycardia caused by pathogenic variants of the HCN4 gene. Methods: From March 2008 to July 2021, we enrolled six patients from four families with diagnosed isolated LVNC based on the clinical presentation, family history and echocardiographic and cardiovascular magnetic resonance (CMR) evidence of LVNC. Next generation sequencing (NGS) analysis was undertaken for the evaluation of the molecular basis of the disease in each family. Results: A total of six children (median age 11 years) were recruited and followed prospectively for the median of 12 years. All six patients were diagnosed with LVNC by echocardiography, and five participants additionally by CMR. The presence of late gadolinium enhancement (LGE) was found in three children. Sinus bradycardia and dilation of the ascending aorta occurred in five studied patients. In four patients from three families, the molecular studies demonstrated the presence of rare heterozygous HCN4 variants. Conclusion: (1) The HCN4 molecular variants influence the presence of a complex LVNC phenotype, sinus bradycardia and dilation of the ascending aorta. (2) The HCN4 alteration may be associated with the early presentation of clinical symptoms and the severe course of the disease. (3) It is particularly important to assess myocardial fibrosis not only within the ventricles, but also in the atria in patients with LVNC and sinus bradycardia.

Inflammatory breast cancer (IBC) is a rare form of breast cancer characterised by an erythematous swollen breast with extensive oedema and has in the past been associated with a very poor prognosis. After diagnosis by core biopsy of the cancer and any involved nodes patients in the Edinburgh Breast Unit (EBU) are primarily managed with neoadjuvant systemic therapy—chemotherapy or endocrine therapy. If the cancer is localised to one or a few well defined lesions then each of these lesions together with the lowest involved node are clipped. Response during neoadjuvant treatment is monitored clinically and by ultrasound plus mammography +/− magnetic resonance imaging (MRI). Following completion of neoadjuvant therapy, imaging is reviewed at a multidisciplinary meeting and patients with a localised single or multiple areas of cancer where all signs of erythema and oedema have settled are considered as to their suitability for breast conserving surgery and whole breast radiotherapy [breast conserving treatment (BCT)]. Here we discuss the results and outcomes of a selected group of patients with IBC who after obtaining a very good response to neoadjuvant chemotherapy or endocrine therapy were treated by BCT and we compare these with other recent publications on this topic. Our data show that patients treated by BCT did not have worse outcomes than patients treated with mastectomy. Importantly other series published recently support our conclusions. Another important observation is that response in estrogen receptor (ER) rich IBC is seen with neoadjuvant endocrine treatment and so not everyone with IBC needs to have neoadjuvant chemotherapy. In conclusion, patients with one or more well defined and localised breast masses and IBC may be suitable for BCT after a major response to neoadjuvant therapy and for these patients BCT should now be considered a viable option.

Purpose Inflammatory breast cancer (IBC) is rare and associated with a poor prognosis. Following neoadjuvant chemotherapy or endocrine therapy, the multidisciplinary team selected a small number of patients for breast-conservation therapy (BCT). The aim of this study was to determine the outcome of IBC patients treated with BCT in Edinburgh.

Objective Early postoperative arrhythmias are a recognized complication of pediatric cardiac surgery. Methods Diagnosis and treatment of early postoperative arrhythmias were prospectively analyzed in 402 consecutive patients aged 1 day to 18 years (mean 29.5 months) who underwent operation between January and December 2005 at our institute. All children were admitted to the intensive care unit, and continuous electrocardiogram monitoring was performed. Risk factors, such as age, weight, Aristotle Basic Score, cardiopulmonary bypass time, aortic crossclamp time, and use of deep hypothermia and circulatory arrest, were compared. Statistical analysis using the Student t test, Mann–Whitney U test, or Fisher exact test was performed. Multivariate stepwise logistic regression was used to assess the risk factors of postoperative arrhythmias. Results Arrhythmias occurred in 57 of 402 patients (14.2%). The most common types of arrhythmia were junctional ectopic tachycardia (21), supraventricular tachycardia (15), and arteriovenous block (6). Risk factors for arrhythmias, such as lower age ( P = .0041 ⁎ ), lower body weight ( P = .000001 ⁎ ), higher Aristotle Basic Score ( P = .000001 ⁎ ), longer cardiopulmonary bypass time ( P = .000001 ⁎ ), aortic crossclamp time ( P = .000001 ⁎ ), and use of deep hypothermia and circulatory arrest ( P = .0188 ⁎ ), were identified in a univariate analysis. In the multivariate stepwise logistic regression, only higher Aristotle Basic Score was statistically significant ( P = .000003 ⁎ ) compared with weight ( P = .62) and age ( P = .40); in the cardiopulmonary bypass group, only longer aortic crossclamp time was statistically significant ( P = .007 ⁎ ). Conclusion Lower age, lower body weight, higher Aristotle Basic Score, longer cardiopulmonary bypass time, aortic crossclamp time, and use of deep hypothermia and circulatory arrest are the risk factors for postoperative arrhythmias. Junctional ectopic tachycardia and supraventricular tachycardia were the most common postoperative arrhythmias.

Wstep Calkowity blok przedsionkowo-komorowy (p-k) moze byc przyczyną groźnych objawow, ze zgonem wlącznie. Skuteczną metodą leczenia jest stala stymulacja serca. Calodobowa rejestracja zapisu elektrokardiograficznego (EKG) metodą Holtera pozwala obiektywnie ocenic sprawnośc ośrodka zastepczego oraz wspolistniejące arytmie. Celem pracy byla ocena przydatności metody w ustaleniu wskazan do zastosowania stalej stymulacji serca oraz ryzyka wystąpienia objawow u dzieci z calkowitym blokiem p-k. Material i metody Zapis EKG metodą Holtera wykonano u 84 dzieci z calkowitym niechirurgicznym blokiem p-k, w tym u 44 dzieci bez klinicznych objawow (grupa I), i u 40 dzieci z objawami bradykardii (grupa II). Wyniki Żaden z porownywanych parametrow holterowskich w zapisach EKG nie roznil sie znamiennie u dzieci z obu grup, jedynie średni najszybszy rytm byl wolniejszy u dzieci z objawami bradykardii (p = 0,07). U ponad 30% dzieci bez objawow bradykardii wyniki wskazywaly na koniecznośc zastosowania stalej stymulacji serca. Wystepowanie komorowych zaburzen rytmu serca bylo wyzsze u dzieci starszych, u dzieci z grupy II wystepowaly bardziej zlozone formy komorowej arytmii (II, III i IV grupa Lowna). U 6 dzieci zarejestrowano epizody tachykardii wezlowej i w 1 przypadku trzepotania przedsionkow. Wnioski 1. U dzieci z calkowitym blokiem p-k calodobowe monitorowanie zapisu EKG metodą Holtera jest istotne w ustaleniu wskazan do zastosowania stalej stymulacji serca. 2. Wyniki holterowskich zapisow EKG u dzieci z calkowitym blokiem przedsionkowo-komorowym bez objawow bradykardii i z objawami bradykardii nie roznią sie istotnie. 3. U dzieci z blokiem przedsionkowo-komorowym III° wystepowanie arytmii komorowej narasta z wiekiem, a w grupie z objawami bradykardii obserwuje sie bardziej zlozone formy arytmii.

Loss-of-function de novo mutations in the SETD5 gene, encoding a putative methyltransferase, are an important cause of moderate/severe intellectual disability as evidenced by the results of sequencing large patient cohorts. We present the first familial case of a SETD5 mutation contributing to a phenotype of congenital heart defects and dysmorphic features, with variable expression, in two siblings and their father. Interestingly, the father demonstrated only mild intellectual impairment. Family based exome sequencing combined to careful parental phenotyping may reveal a more complex clinical picture in newly recognized syndromes. © 2016 Wiley Periodicals, Inc.