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Aims: Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease where polyglucosan accumulation leads to cardiomyopathy and skeletal muscle myopathy. Variants of RBCK1 is related with PGBM1. We present a newly discovered pathogenic RBCK1 variant resulting in dilated cardiomyopathy (DCM) and a comprehensive literature review. Methods and results: Whole‐exome sequencing (WES) was utilized to detect genetic variations in a 7‐year‐old girl considered the proband. Sanger sequencing was performed to validate the variant in the patient and all the available family members, whether affected or unaffected. The variant's pathogenicity was assessed by conducting a cosegregation analysis within the family with in silico predictive software. WES showed that the proband's RBCK1 gene contained a missense likely pathogenic homozygous nucleotide variant, c.598_599insT: p.His200LeufsTer14 (NM_001323956.1), in exon 8. The computational analysis supported the variant's pathogenicity. The variant was identified in a heterozygous form among all the healthy members of the family. Variants with changes in N‐terminal part of the protein were more likely to manifest immunodeficiency and auto‐inflammation than those with C‐terminal protein modifications according to prior variations of RBCK1 reported in the literature. Conclusions: Our study offers novel findings indicating an RBCK1 variant in individuals of Iranian ancestry presenting with DCM leading to heart transplantation and myopathy without immunodeficiency or auto‐inflammation. [ABSTRACT FROM AUTHOR]

Objective: Assisted reproductive technology (ART), an effective treatment modality for infertility, is associated with a higher prevalence of congenital anomalies such as congenital heart defects (CHDs). The present study aimed to evaluate data linking CHDs in infants to pregnancies resulting from in vitro fertilization (IVF) and/or intracytoplasmic sperm injection (ICSI). Methods: In this study, we conducted a systematic literature search on CHDs in infants following IVF/ICSI in Google Scholar, Embase, Scopus, MEDLINE, and PubMed databases from inception to February 2020. The search strategy used combinations of search keywords that included assisted reproductive technology/ART, in vitro fertilization/IVF, intracytoplasmic sperm injection/ ICSI, birth defect, congenital malformation, and congenital heart defects. Results: Fifty-six studies fulfilled the inclusion criteria and were selected in the current systematic review, which assessed the association between ART and the risk of CHDs. Conclusion: Children conceived by IVF/ICSI manifested an increased risk of CHDs compared with spontaneously conceived children. Further studies are needed to assess the long-term cardiovascular safety of these techniques, which is important for the counseling of patients before the use of ART. [ABSTRACT FROM AUTHOR]

Background: Infective Endocarditis (IE) is a life-threatening disease. Regardless of improved healthcare, the incidence of IE has increased over time. A variety of microorganisms have been found to be associated with IE. Objectives: This study aimed to determine the incidence of various microorganisms in patients admitted with IE and to assess their relationships with in-hospital complications. Methods: This prospective cross-sectional study was conducted on patients with definite or possible IE based on the Duke criteria at a tertiary referral center between 2016 and 2021. Blood cultures were performed for all the patients to document the positive or negative blood cultures as well as the types of microorganism. Statistical analyses were performed using the SPSS 18 software. Results: The study population consisted of286 patients (181 males (63.3%) and 105 females (36.7%)) with the mean age of49.67 ± 17.11 years. The most common cardiac predisposing factor was the prosthetic valve (n = 110, 38.5%) followed by a history of congenital heart disease (n = 68, 23.8%), while the most frequent non-cardiac predisposing factors were a history of chronic kidney disease (n = 75, 26.2%) and diabetes mellitus (n = 53, 18.5%). The most frequent causative microorganisms were coagulase-negative Staphylococcus (n = 37, 12.9%), Staphylococcus aureus (n = 31, 10.4%), Enterococcus (n = 29, 10.1%), and Streptococcus viridans (n = 14, 4.9%). The most common complications were acute renal failure (26.6%), heart failure (17.5%), and pulmonary involvement (8.4%). Conclusions: The frequencies of microorganisms related to IE, especially culture-negative IE, vary in different countries, precluding the practical use of a specific guideline around the world. Further research is, therefore, required to determine the epidemiology and microbiology of IE in different countries with a view to eventually devising an individualized guideline appropriate to the epidemiology and microbiology of IE in every country. [ABSTRACT FROM AUTHOR]

Phaeochromocytomas/paragangliomas (PPGL) are rare tumours that can cause cardiovascular complications following the secretion of catecholamines. We present a young female presented with heart failure with reduced ejection fraction as a result of norepinephrine secreting para‐aortic paraganglioma and improvement of heart failure sign and symptoms and left ventricular ejection fraction following tumour resection. [ABSTRACT FROM AUTHOR]

While severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection primarily causes inflammation in the respiratory system, there is growing evidence of extrapulmonary tissue damage mediated by the host innate immune system in children and adults. A cytokine storm can manifest as a viral‐induced haemophagocytic lymphohistiocytosis (HLH). Here, we present a previously healthy 8‐year‐old boy with newly diagnosed cardiac injury and COVID‐19‐related HLH syndrome with haemophagocytosis in bone marrow biopsy. After remission of inflammation, the patient underwent a heart transplant due to persistent cardiac failure. The histology of the explanted heart showed only a focal subtle subendocardial inflammation. Three days after transplant, he developed progressive acute respiratory distress syndrome (ARDS) with the rise of inflammatory markers. He unfortunately died after 20 days because of disseminated intravascular coagulation (DIC). For the first time, we described a child with COVID‐19‐related HLH and severe cardiac failure, which had a poor prognosis despite a heart transplant. [ABSTRACT FROM AUTHOR]

Background: Repair of tetralogy of fallot (TOF) is associated with diffuse myocardial fibrosis. Cardiac magnetic resonance imaging (CMR) can visualize the areas with myocardial fibrosis. Presence of fragmented QRS (fQRS) implies the presence of the underlying myocardial scar. Despite the strong association between fQRS and myocardial pathologies, the impact of fQRS with myocardial fibrosis in post-TOF correction is unknown. Objectives: Here, we evaluated the possible predictive role of fQRS in repaired TOF cases and its relationship with cardiac function. Patients and Methods: Thirty two patients with previous history of repaired TOF were enrolled. The extent of fQRS was evaluated according to the number of leads with fQRS. After electrocardiographic evaluation, the participants underwent CMR. Results: Results showed a significant relationship between the right ventricular (RV) systolic diameter and fQRS (P = 0.014). Also, an inverse linear relationship was found between the number of fQRS edges and RVEF (r = 0.77, P = 0.0001). The mean QRS duration in those with positive and negative fQRS was 132 mm and 115.8 mm (P = 0.0001). Furthermore, a linear correlation was observed between the number of edges and the percentage of scar tissue (r = 0.88, P = 0.001). However, no relevance between gender and fQRS was detected (P = 0.26), and the relationship between RV diastolic diameter and fQRS was not significant (P = 0.1). Thus, fQRS could be used as a marker of RV systolic dysfunction in patients with tetralogy of fallot. Conclusions: We suggested the fQRS as a surrogate indicator of RV dysfunction in repaired TOF patients and showed that diagnostic and prognostic information of the patients were available by fQRS. [ABSTRACT FROM AUTHOR]