Pulmonary Capillary Hemangiomatosis as a Rare Underlying Cause of Primary Pulmonary Hypertension: A Case Report in an Adolescent.

Despite its rarity, pulmonary capillary hemangiomatosis (PCH) presents a significant diagnostic challenge. Due to its similarity to other pulmonary vascular diseases, such as pulmonary veno-occlusive disease, it is characterized by abnormal pulmonary capillary proliferation, which is a rare cause of primary pulmonary hypertension. This case was the first reported instance of PCH in Shahid Rajaee Heart Hospital in Tehran, Iran, in 2023, which was confirmed by genetic testing. It highlighted the importance of considering PCH among the differential diagnoses for pulmonary hypertension, even in adolescent patients. The 13-year-old patient's main complaints were progressive exertional dyspnea and chest pain. He had no previous medical history and had not taken any pharmaceutical or herbal medications. Critical clinical findings included a heart murmur, an electrocardiogram revealing right ventricular hypertrophy, and echocardiogram evidence of pulmonary hypertension. The main diagnosis was PCH, as shown by CT findings of pulmonary artery dilatation and diffuse nodular ground glass opacities. Genetic tests indicated pathogenic EIF2AK4 mutations and suspicion of PCH. Therapeutic intervention included vasodilator therapy, which exacerbated the patient's condition. This case emphasized the importance of maintaining a high index of suspicion for rare causes of pulmonary hypertension, such as PCH. The outcome was to prepare the patient for lung transplantation. To differentiate PCH from other pulmonary vascular diseases, a combination of clinical presentation, radiologic studies, genetic analysis, and response to treatment is required to determine appropriate management, particularly lung transplantation.

Association between dietary selenium and zinc intake and risk of dilated cardiomyopathy in children: a case-control study.

BACKGROUND: Dilated cardiomyopathy (DCMP) is characterized by the enlargement and weakening of the heart and is a major cause of heart failure in children. Infection and nutritional deficiencies are culprits for DCMP. Zinc is an important nutrient for human health due to its anti-oxidant effect that protects cell against oxidative damage. This case-control study aimed to investigate the relationship between dietary intake of zinc and selenium and the risk of DCMP in pediatric patients. METHODS: A total of 36 DCMP patients and 72 matched controls were recruited, and their dietary intakes were assessed via a validated food frequency questionnaire. We used chi-square and sample T-test for qualitative and quantitative variables, respectively. Logistic regression analysis was applied to assess the relationship between selenium and zinc intake with the risk of DCMP. RESULTS: After fully adjusting for confounding factors, analyses showed that selenium (OR = 0.19, CI = 0.057-0.069, P trend < 0.011) and zinc (OR = 0.12, CI = 0.035-0.046, P trend < 0.002) intake were strongly associated with 81% and 88% lower risk of pediatric DCMP, respectively. CONCLUSIONS: This study highlights the protective role of adequate dietary intake of selenium and zinc in decreasing the risk of DCMP in children. Malnutrition may exacerbate the condition and addressing these micronutrient deficiencies may improve the cardiac function. Further studies are recommended to detect the underlying mechanisms and dietary recommendations for DCMP prevention.

Paediatric heart transplantation during the COVID-19 pandemic in Iran: single-centre experience.

AIMS: Transplant services were imposed to the multiple challenges of insufficient facilities and resources during the COVID-19 pandemic. Thus, each centre modified and altered its routine practice to maintain the service. We report our experience in Iran's single-centre paediatric heart transplantation unit during the 2 year pandemic in transplant rate and early transplant outcomes. METHODS AND RESULTS: We retrospectively reviewed all paediatric heart transplants performed at our centre between 19 February 2020 and February 2022. We studied the number and percentage of paediatric transplanted patients who developed COVID-19, in-hospital outcome, 30 day survival and left ventricular function during the first month of the follow-up visit. From February 2020 to February 2022, 59 transplants were performed compared with 62 patients from February 2018 to 2020. Compared with the year before the pandemic, the heart transplant rate was reduced by 34% in the first year of the pandemic; however, it bounced back in the second year with a 19% increase. The in-hospital mortality rate during the 2 year pandemic was (11.8%). One death occurred related to COVID-19 acute respiratory distress syndrome. The in-hospital COVID-19 infection rate was 11 patients (18%). In the 30 day follow-up, the overall 30 day survival rate was 88%, and the 30 day rejection rate was 10%. The mean left ventricular ejection fraction was (53.6 ± 4.9), the mean left ventricular global longitudinal strain was -16.9 ± 3.3, and the mean right ventricular global longitudinal strain was -17.0 ± 3.8 with no significant difference between patients with in-hospital COVID and other recipients (P = 0.1, P = 0.2 and P = 0.2). CONCLUSIONS: Throughout the pandemic, although we experienced a reduction in the transplant rate in the first year, with the increasing vaccination rate in health care and later in the general population, we continued to maintain our transplant rate by incorporating safety protocols and more resources.

Pre-operative nutritional status and its association with short-term post-operative outcomes in Iranian children with CHD.

BACKGROUND: Nutritional assessment appears to be an essential component of the evaluation of children with CHD undergoing surgery because nutritional status may impact corrective surgery-associated morbidity. METHODS: A prospective single-centre cohort study with children between 6 and 24 months of age. Patients who had genetic syndromes or those who were premature or low birthweight at birth were excluded. Pre-operative nutritional parameters included anthropometric measurements and serum concentrations of total protein, vitamin D, iron, and ferritin. Outcome measures included ICU length of stay, mechanical ventilation, vasoactive-inotropic score, and duration of inotropes. Linear regression analysis was performed to determine whether pre-operative variables were associated with outcomes. RESULTS: Analysis was performed on 120 patients (median age of 8 months), of whom 67 were male. Prior to surgery, 50.8% of patients had reduced (z ≤ -2.0) weight-for-age z score, 23.3% had reduced length-for-age z score, and 59.2% had reduced mid-upper arm circumference z score. Pre-operative serum total protein levels were 59.36 ± 9.16 g/L. Multiple regression analysis showed that low serum protein was associated with longer ICU length of stay and length of mechanical ventilation, while mid-upper arm circumference z score ≤ -2 was associated with longer ICU length of stay and mechanical ventilation and inotropes duration. CONCLUSIONS: Pre-operative assessment of nutritional status by performing anthropometric and biochemical measurements including mid-upper arm circumference z score and serum protein concentrations in children undergoing CHD surgery appears to be predictors of some post-operative short-term outcomes and could be used as a guide to highlight patients needing appropriate perioperative nutritional interventions.

Effect of feeding with standard or higher-density formulas on anthropometric measures in children with congenital heart defects after corrective surgery: a randomized clinical trial.

OBJECTIVES: The aim of the present study was to assess the efficacy of feeding a higher-density formula (HDF) in infant with congenital heart disease (CHD). METHODS: In a parallel randomized trial, infants (6 to 12 months) who underwent CHD corrective surgery received either a standard-density formula (SDF, 67 kcal /100 ml) or an HDF (90 kcal/100 ml) after discharge from the intensive care unit for 8 weeks. In addition to the formula, infants could receive breast milk or complementary food. Anthropometry, biochemistry, and formula intake were collected. RESULT: Sixty-four infants completed the study (n = 32 in each group). All infants gained weight. The mean ± standard deviation (SD) of weight z score at baseline and week-8 were -2.38 ± 10.04 to -1.38 + 0.97 in the SDF group and -2.69 ± 1.19 to -0.89 ± 0.90 in the HDF group (between-group p = 0.0001). Both groups gained length, but showed a decline in length z-score which was significant in the SDF group but not significant in the HDF group. Mid-upper arm circumference and its z score improved in both groups, with more improvement in the HDF group. Serum albumin level was higher in the HDF than the SDF group at week-8, but no significant between-group differences were observed in hemoglobin, serum ferritin, or iron. Symptoms of gastrointestinal intolerance were not reported, but parents of 4 infants in the HDF group complained of their infants' constipation. CONCLUSION: Feeding infants using a concentrated formula could increase infants' weight gain and growth, and improve the nutritional status after CHD surgery.

Impact of donor-to-recipient weight ratio on the hospital outcomes of pediatric heart transplantation.

BACKGROUND: Identifying the factors that can influence the prognosis and final outcomes of pediatric heart transplantation is important and makes it possible to prevent complications and improve outcomes. Coordination of donor characteristics with the recipient in terms of sex, weight, body mass index (BMI), and body surface area (BSA) is an important factor that can influence the outcome of the transplantation. There is still no consensus regarding the role of discrepancy in anthropometrics between donors and recipients. The aim of this study was to investigate the relationship between donor and recipient weight mismatch on the early outcomes of pediatric heart transplantation. In this historical cohort study, 80 children who had underwent heart transplantation for the first time between 2014 and 2019 in Shahid Rajaie Cardiovascular Medical and Research Center in Tehran, Iran, were enrolled and divided into three groups according to donor-to-recipient weight ratio (0.8 < D/RW ≤ 1.5, 1.5 < D/RW ≤ 2.5, and 2.5 < D/RW). The early outcomes of transplantation, during the first post-transplant month, including right heart failure, renal failure, graft rejection, inotrope dependency, duration of intubation, length of ICU stay, death and requiring extracorporeal membrane oxygenation, were recorded through reviewing patient records. RESULTS: Median donor-to-recipient BSA ratio was directly associated with higher vasoactive-inotropic score (P = 0.038), while no significant association was found between donor-to-recipient weight ratio and vasoactive-inotropic score (P = 0.07). No significant relationship was found between other outcomes and donor-to-recipient weight ratio or donor-to-recipient BSA ratio. CONCLUSIONS: Patients who require heart transplantation may also benefit from mismatch donors, especially in those with significant cardiomegaly.

Survival benefit from paediatric transplantation in brucellosis-infected patients listed for heart transplantation.

This article reported two cases of brucellosis in children on the waiting list for a cardiac transplant who have been referred with the diagnosis of Fever of Unknown Origin. The serology was positive and patients were treated with cardiac transplantation in the 6th week. They had no recurrence or rejection. Therefore, brucellosis should be considered in patients on the waiting list for cardiac transplants.

Chronic thromboembolic pulmonary hypertension secondary to Behçet's disease: an extremely rare pediatric case.

Chronic thromboembolic pulmonary hypertension is an uncommon condition in the children. It almost always accompanies a hypercoagulable state. We described a rare case of Behçet's disease presenting with chronic thromboembolic pulmonary hypertension and initially misdiagnosed as coronavirus disease 2019 pneumonia.

Cytokine storm after heart transplantation in COVID-19-related haemophagocytic lymphohistiocytosis (HLH).

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.

Whole-exome sequencing identified compound heterozygous variants in the TTN gene causing Salih myopathy with dilated cardiomyopathy in an Iranian family.

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.

Immunodeficiency, Centromeric Region Instability, and Facial Anomalies Syndrome (ICF) in a Boy with Variable Clinical and Immunological Presentations.

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare primary immunodeficiency disorder characterized by recurrent infections and low immunoglobulin levels due to variable combined immunodeficiency, and centromeric region instability, and facial dysmorphism. We describe a 12-year-old boy with recurrent respiratory tract infections, facial anomalies, scoliosis, and psychomotor retardation. He had recurrent pneumonia with low serum IgG and IgM levels during infancy and preschool age. Later at the age of 10, he developed recurrent ear infections. An IgA and IgM deficiency was found accompanied by a normal B-cell and T-cell count as well as an impaired candida-induced T-cell proliferation. Further evaluations revealed a missense mutation in the DNMT3B gene on chromosome 20. Chromosomal analysis showed a sunburst multi-radial feature on chromosome 1, which is a hallmark of ICF syndrome. The genetic mutation and chromosomal abnormality along with clinical findings are compatible with the diagnosis of ICF syndrome. To the best of our knowledge, this is the first time that scoliosis is observed in an ICF patient. The additional variable clinical symptoms in the case were the presence of spastic gait as well as hypogammaglobulinemia with immunoglobulin isotype switch at different ages.

Irreversible coronary aneurysm presenting as acute coronary syndrome in a child with hypereosinophilic syndrome: a case report.

Hypereosinophilic syndrome is defined as persistent eosinophilia in the blood for more than 6 months, without any identifiable cause and with end-organ involvement evidence. Cardiac manifestations of HES include heart failure due to restrictive cardiomyopathy, arrhythmia, intraventricular thrombosis, and coronary artery involvement occurs frequently. In rare instances, coronary ectasia, aneurysms, or dissection can occur and cause morbidity and mortality in these patients.A coronary aneurysm occurs rarely in adult patients with HES but to our knowledge, this is the first report of this association in a 14-year-old boy who was presented to us as coronary aneurysm due to hypereosinophilic syndrome.

Difficult weaning from cardiopulmonary bypass after surgical VSD closure: An unusual rare case.

The connection of the left coronary artery to the pulmonary artery may be asymptomatic due to high pulmonary vascular resistance in the context of left-to-right shunts. Before the repair of the mentioned anomalies, coronary anatomy must be defined.