Search

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.

Background:Salih myopathy, characterised by both congenital myopathy and fatal dilated cardiomyopathy, is an inherited muscle disorder that affects skeletal and cardiac muscles. TTN has been identified as the main cause of this myopathy, the enormous size of this gene poses a formidable challenge to molecular genetic diagnostics.Method:In the present study, whole-exome sequencing, cardiac MRI, and metabolic parameter assessment were performed to investigate the genetic causes of Salih myopathy in a consanguineous Iranian family who presented with titinopathy involving both skeletal and heart muscles in an autosomal recessive inheritance pattern.Results:Two missense variants of TTN gene (NM_001267550.2), namely c.61280A>C (p. Gln20427Pro) and c.54970G>A (p. Gly18324Ser), were detected and segregations were confirmed by polymerase chain reaction-based Sanger sequencing.Conclusions:The compound heterozygous variants, c.61280A>C, (p. Gln20427Pro) and c.54970G>A, (p. Gly18324Ser) in the TTN gene appear to be the cause of Salih myopathy and dilated cardiomyopathy in the family presented. Whole-exome sequencing is an effective molecular diagnostic tool to identify the causative genetic variants of large genes such as TTN.

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 fromIn 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,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.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.

Objective: Angiotensin converting enzyme (ACE) converts angiotensin I into angiotensin II. The ACE gene shows an I/D polymorphism, which correlates with ACE concentrations. The aim of this study is to evaluate the distribution of the ACE I/D genotype in children with idiopathic nephrotic syndrome (INS) and healthy controls and study the effect of this polymorphism on clinical and pathologic findings. Methods: ACE gene I/D polymorphism of 104 patients with INS and 119 controls were determined. Results: The DD, ID, and II genotypes were found in 58.7%, 22.1%, and 19.2% of the patients, and in 79.8%, 2.5%, and 17.6% of controls, respectively (p > 0.05). The ID genotype was seen more frequently in patients resistant to treatment. Conclusion: The observed differences with previous reports suggest the influence of the genetic background on disease course. The ACE I/D gene polymorphism's role seems to be more important in renal disease progression than susceptibility.

Results The mean percentage of scar tissue in those who had RVEF 45%, that was statistically significant.(P-value= 0.0001). The overall accuracy of the test to identify patients with RVEF 150 ml/m 2 were 87% and 62%, respectively; PPV=70% and NPV=83%.The relation of fQRS and RV end systolic volume index was statistically meaningful. (P-value=0.02)The sensitivity and specificity of fQRS in identifying patients with RVESVI>82 ml/m 2 were 80% and 66%, respectively; PPV=80% and NPV=66%. The relation of mean right ventricular diastolic and systolic diameter with RVEF was statistically considerable according to the P-value=0.0001 and 0.001, respectively; without any meaningful relationship between RV diastolic diameter and fQRS. (P-value=0.1)And there was relationship between RV diastolic diameter and fQRS. (Pvalue=0.014)There was a strong inverse linear relationship between the number of fQRS edges and RVEF (r=0.77, Pvalue=0.0001) in addition to a strong positive linear correlation between the number of edges and the percentage of scar tissue (r=0.88, P-Value=0.001). Conclusions According to this study fQRS could suggest an acceptable screening test in the serial follow up of patients who repaired TOF, considering that CMR was costly and time consuming.