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Pubblicazioni recenti - pediatric cardiac
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Telemedicine for adult congenital heart disease patients during the first wave of COVID-19 era: a single center experience.
J Cardiovasc Med (Hagerstown)2021 Apr;():. doi: 10.2459/JCM.0000000000001195.
Grandinetti Maria, Di Molfetta Arianna, Graziani Francesca, Delogu Angelica Bibiana, Lillo Rosa, Perri Gianluigi, Pavone Natalia, Bruno Piergiorgio, Aspromonte Nadia, Amodeo Antonio, Crea Filippo, Massetti Massimo,
Abstract
AIM:
To summarize our experience on the implementation of a telemedicine service dedicated to adult congenital heart disease (ACHD) patients during the lockdown for the first wave of COVID-19.
METHODS:
This is a prospective study enrolling all ACHD patients who answered a questionnaire dedicated telematic cardiovascular examination.
RESULTS:
A total of 289 patients were enrolled, 133 (47%) were male, 25 (9%) were affected by a genetic syndrome. The median age was 38 (29-51) years, whereas the median time interval between the last visit and the telematic follow-up was 9.5 (7.5-11.5) months. Overall, 35 patients (12%) reported a worsening of fatigue in daily life activity, 17 (6%) experienced chest pain, 42 (15%) had presyncope and 2 (1%) syncope; in addition, 28 patients (10%) presented peripheral edema and 14 (5%) were orthopneic. A total of 116 (40%) patients reported palpitations and 12 had at least one episode of atrial fibrillation and underwent successful electrical (8) or pharmacological (4) cardioversion. One patient was admitted to the emergency department for uncontrolled arterial hypertension, five for chest pain, and one for heart failure. Two patients presented fever but both had negative COVID-19 nasal swab.
CONCLUSION:
During the COVID-19 pandemic, the use of telemedicine dramatically increased and here we report a positive experience in ACHD patients. The postpandemic role of telemedicine will depend on permanent regulatory solutions and this early study might encourage a more systematic telematic approach for ACHD patients.
Copyright © 2021 Italian Federation of Cardiology. All rights reserved.
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Fluid Responsiveness Predictability in Immediate Postoperative Pediatric Cardiac Surgery. Is the Old Slandered Central Venous Pressure Back Again?
Shock2021 Apr;():. doi: 10.1097/SHK.0000000000001786.
Shostak Eran, Shochat Tzippy, Manor Orit, Dagan Ovadia, Schiller Ofer,
Abstract
OBJECTIVE:
Acute low cardiac output (CO) is a frequent scenario in pediatric cardiac intensive care units (PCICU). While fluid responsiveness has been studied extensively, literature is scarce for the immediate postoperative congenital heart surgery population admitted to PCICUs. This study analyzed the utility of hemodynamic, bedside ultrasound and Doppler parameters for prediction of fluid responsiveness in infants and neonates in the immediate postoperative cardiac surgery period.
DESIGN:
A prospective observational study.
SETTING:
University affiliated, tertiary care hospital, PCICU.
PARTICIPANTS:
Immediate postoperative pediatric patients displaying a presumed hypovolemic low CO state were included. A clinical, arterial derived, hemodynamic, sonographic, Doppler-based, and echocardiographic parameter assessment was performed, followed by a fluid bolus therapy.
INTERVENTIONS:
15-20cc/kg Crystalloid fluid bolus.
MAIN OUTCOME MEASURES:
Fluid responsiveness was defined as an increase in cardiac index >?10% by echocardiography.
RESULTS:
Of 52 patients, 34 (65%) were fluid responsive. Arterial systolic pressure variation (SPV), continuous-Doppler preload parameters, and inferior vena-cava distensibility index (IVCDI) by bedside ultrasound all failed to predict fluid responsiveness. Dynamic central venous pressure (CVP) change yielded a significant but modest fluid responsiveness predictability of AUC 0.654 (p?=?0.0375).
CONCLUSIONS:
In a distinct population of mechanically ventilated, young, pediatric cardiac patients in the immediate postoperative period, SPV, USCOM preload parameters, as well as IVC-based parameters by bedside ultrasound failed to predict fluid responsiveness. Dynamic CVP change over several hours was the only parameter that yielded significant but modest fluid responsiveness predictability.
Copyright © 2021 by the Shock Society.
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Clinical characteristics and outcome of hospitalized children and adolescent patients with type 1 diabetes during the COVID-19 pandemic: data from a single center surveillance study in Egypt.
J Pediatr Endocrinol Metab2021 Apr;():. doi: 10.1515/jpem-2021-0099.
Sherif Eman Monir, Elhenawy Yasmine Ibrahim, Matter Randa Mahmoud, Aly Hanan Hassan, Thabet Rasha Adel, Fereig Yasmeen Abdelaziz,
Abstract
OBJECTIVES:
COVID-19 pandemic significantly impacted the diagnosis of type 1 diabetes and its acute complications. Thus, the study aimed to evaluate the characteristics of pediatric patients with type 1 diabetes hospitalized during the first wave of the pandemic and the prevalence of new onset diabetes among patients with evidence of COVID-19 infection.
METHODS:
A single-center surveillance study included all patients with diabetes admitted to Children's Hospital, Ain Shams University, in Egypt between May to August 2020. Data were collected to evaluate patients' clinical and laboratory characteristics as well as their outcomes.
RESULTS:
Thirty-six patients were admitted during the study period. The mean age was 8.4 ± 3.8 years. Patients presented late to the emergency department with a mean delay of 3.05 ± 1.19 days from onset of symptoms. 34/36 patients presented in diabetic ketoacidosis (DKA), 50% presenting in severe DKA. Almost 81% of the patients were newly diagnosed. During the study period, SARS-CoV-2 PCR was found positive in four patients, COVID Ig M antibodies were positive in another two patients; all were symptomatic requiring ICU admission. Four patients showed a picture suggestive of the multi-inflammatory syndrome (MIS-C); cardiac affection was a constant feature.
CONCLUSIONS:
The pandemic affected both the prevalence and severity of DKA among pediatric patients. The increased prevalence of severe DKA could be partly related to delayed hospital admission or the effect of COVID-19 in triggering DKA. Efforts should be done to continuously raise awareness about diabetes in children as well as the importance of seeking timely medical guidance.
© 2021 Walter de Gruyter GmbH, Berlin/Boston.
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Factors and mechanisms contributing to the development of preschool wheezing disorders.
Expert Rev Respir Med2021 Apr;():1-16. doi: 10.1080/17476348.2021.1913057.
Bonner Katie, Scotney Elizabeth, Saglani Sejal,
Abstract
INTRODUCTION:
Half of all children will experience an episode of wheezing by their sixth birthday and acute episodes of wheezing in preschool children account for the majority of all childhood hospital admissions for wheeze. Recurrent preschool wheezing associates with early loss of lung function and a life-long impact on lung health.
AREAS COVERED:
We reviewed the literature on PubMed from August 2010-2020 focussing on factors associated with wheeze inception and persistence, paying specific attention to mechanistic studies that have investigated the impact of early life exposures in shaping immune responses in children with underlying susceptibility to wheezing. In particular, the role of early allergen sensitization, respiratory infections, and the impact of the environment on shaping the airway microbiome and resulting immune responses are discussed.
EXPERT OPINION:
There is an abundance of associative data showing the role of and postnatal factors influencing wheeze onset and persistence. However, mechanistic and stratified, biomarker-based interventional studies that confirm these associations are now needed if we are to impact the significant healthcare burden resulting from preschool wheezing disorders.
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Distinct Types of Plexiform Lesions Identified by Synchrotron-Based Phase Contrast Micro-CT.
Am J Physiol Lung Cell Mol Physiol2021 Apr;():. doi: 10.1152/ajplung.00432.2020.
Westöö Christian, Norvik Christian Carl, Peruzzi Niccolò, van der Have Oscar, Lovric Goran, Jeremiasen Ida, Tran Phan-Kiet, Mokso Rajmund, de Jesus Perez Vinicio A, Brunnström Hans, Bech Martin, Galambos Csaba, Tran-Lundmark Karin,
Abstract
In pulmonary arterial hypertension, plexiform lesions are associated with severe arterial obstruction and right ventricular failure. Exploring their structure and position is crucial for understanding the interplay between hemodynamics and vascular remodeling. The aim of this research was to use synchrotron-based phase contrast micro-CT to study the three-dimensional structure of plexiform lesions. Archived paraffin-embedded tissue-samples from 14 patients with pulmonary arterial hypertension (13 idiopathic, 1 with known BMPR2-mutation) were imaged. Clinical data showed high median PVR (12,5 WU) and mPAP (68 mmHg). Vascular lesions with more than one lumen were defined as plexiform. Prior radiopaque dye injection in some samples facilitated 3D-rendering. Four distinct types of plexiform lesions were identified: (1) localized within or derived from monopodial branches (supernumerary arteries), often with connection to the vasa vasorum; (2) localized between pulmonary arteries and larger airways as a tortuous transformation of intrapulmonary bronchopulmonary anastomoses; (3) as spherical structures at unexpected abrupt ends of distal pulmonary arteries; and (4) as occluded pulmonary arteries with re-canalization. By appearance and localization, types 1-2 potentially relieve pressure via the bronchial circulation, as pulmonary arteries in these patients were almost invariably occluded distally. In addition, types 1-3 were often surrounded by dilated thin-walled vessels, often connected to pulmonary veins, peri-bronchial vessels or the vasa vasorum. Collaterals, by-passing completely occluded pulmonary arteries, were also observed to originate within plexiform lesions. In conclusion, synchrotron-based imaging revealed significant plexiform lesion heterogeneity, resulting in a novel classification. The four types likely have different effects on hemodynamics and disease progression.
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Long-Term Outcomes After Fenestration Closure in High-Risk Fontan Candidates.
Pediatr Cardiol2021 Apr;():. doi: 10.1007/s00246-021-02619-9.
Ozawa Hideto, Hoashi Takaya, Ohuchi Hideo, Kurosaki Kenichi, Ichikawa Hajime,
Abstract
The study aimed to assess the long-term outcomes after fenestration closure in patients at risk for Fontan failure. Of 119 patients who underwent Fontan operation between 1995 and 2004, fenestration was not created in 89 patients (NF group) and created in 30 patients with hypoplastic left heart syndrome, heterotaxy syndrome, high pulmonary arterial pressure, high systemic ventricular end-diastolic pressure, low ventricular ejection fraction, or atrioventricular valve regurgitation. All fenestrations were closed spontaneously or by catheter/surgical interventions, excepting two patients, and therefore, they were excluded. In fenestration group, patients with pre-Fontan mean pulmonary arterial pressure???15 mmHg or systemic atrioventricular valve regurgitation???moderate were classified as high-risk Fontan candidates (F-HR group, n?=?16), and the remaining patients were as standard-risk (F-SR group, n?=?12). Protein-losing enteropathy-free survival rates did not differ among the three groups (p?=?0.72). Serial follow-up catheter examinations after Fontan operation were completed in 69 patients in NF group and 11 patients in both F-SR and F-HR groups. Cardiac index and pulmonary vascular resistance significantly and similarly decreased over time in all groups, though the F-HR group showed lowest arterial oxygen saturation, lowest cardiac index, and highest pulmonary vascular resistance. The F-HR group also showed much veno-venous collaterals (p?=?0.049), low peak oxygen consumption (p?=?0.019), and low anaerobic threshold (p?=?0.023) as compared to those in the F-SR group. In F-HR group, cyanosis remained after fenestration closure due to transformation from fenestration to veno-venous collaterals, which resulted in elevation of pulmonary vascular resistance, low cardiac index, and deterioration of exercise tolerance.
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Is the Use of Routine Echocardiogram Warranted in Large Pediatric Burns?
J Burn Care Res2021 Apr;():. doi: irab056.
Wilmot I, Chang P H, Fowler L, Warner P,
Abstract
INTRODUCTION:
Cardiac dysfunction can develop in large pediatric burns during the acute and recovery phase. When occurring in this population, the cardiac abnormality appears as left ventricular dysfunction or dilated cardiomyopathy. Recent studies have demonstrated perioperative and long-term cardiac dysfunction resulting in longer hospital stays for patients over 40% total body surface area. The objective of this study was to assess if early use of echocardiograms in large burns would allow for early recognition of patients at risk for cardiac dysfunction.
MATERIAL AND METHODS:
Pediatric burn patients ages 0-18 years who sustained a burn injury of 30% TBSA or more or developed cardiac dysfunction during hospital course were evaluated. Echocardiograms were obtained upon admission with monthly repeats until three normal studies were attained or the patient was discharged and when symptomatic.
RESULTS:
Of the 130 acute burn patients admitted during 7/2017-10/2018, 10 patients met criteria for enrollment in this study. The average age was 5 years (0.8 to 10 yrs), 70% were males and 90% sustained flame injuries.Total TBSA average was 45% (24-70%) with average full thickness burns of 33% (0-67%). Twenty echocardiogram studies were obtained. One patient with 25% TBSA burn, demonstrated severe left ventricular dysfunction with an EF of 25% from post arrest myocardial stunning. Repeat echocardiogram studies demonstrated full recovery with normal EF. The remaining patients, despite large TBSA injuries, did not exhibit any abnormalities on ECHO examinations. No cardiac interventions were required.
CONCLUSIONS:
Use of echocardiograms is best performed on symptomatic burn patient populations.
© The Author(s) 2021. Published by Oxford University Press on behalf of the American Burn Association. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
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Imaging of Congenital Heart Disease: Expect the Unexpected.
Radiology -
Hepatic Steatosis in Patients With Single Ventricle and a Fontan Circulation.
J Am Heart Assoc2021 Apr;():e019942. doi: 10.1161/JAHA.120.019942.
Katz David A, Peck Daniel, Lubert Adam M, Possner Mathias, Zafar Faizeen, Trout Andrew T, Palermo Joseph J, Anwar Nadeem, Dillman Jonathan R, Powell Adam W, Xanthakos Stavra A, Opotowsky Alexander R, Veldtman Gruschen, Alsaied Tarek,
Abstract
Background Hepatic steatosis, caused by nonalcoholic fatty liver disease, is a leading cause of chronic liver disease. The interplay between hepatic steatosis and the development of liver disease following the Fontan procedure is not well understood. This study examined the prevalence and associations of hepatic steatosis in patients with a Fontan circulation. Methods and Results This was a single-center retrospective study of 95 patients with a Fontan circulation with liver magnetic resonance imaging performed between 2012 and 2019. The average age at magnetic resonance imaging was 21.5±8.5 years. The percent liver fat signal was determined using magnetic resonance chemical shift-encoded proton density fat fraction imaging. Hepatic steatosis was defined as liver fat ?5% and was present in 10.5% of the cohort. The presence of hepatic steatosis was associated with higher body mass index (29±4 versus 24±6 kg/m, =0.006), a higher frequency of obesity (50% versus 12%, =0.015), lower high-density lipoprotein cholesterol (35±9 versus 43±14 mg/dL, =0.050), and greater subcutaneous fat thickness (2.6±0.7 versus 1.8±1.0 cm, =0.043). There was no association between hepatic steatosis and cardiovascular imaging or hemodynamic variables from cardiac catheterization. Conclusions Risk factors for hepatic steatosis in patients with Fontan circulation include obesity and dyslipidemia, similar to what is seen in the general population. Fontan hemodynamics were not associated with hepatic steatosis.
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Prenatal diagnosis of redundant foramen ovale flap aneurysm prolapsing into the mitral valve mimicking coarctation of aorta.
Ultrasound Obstet Gynecol -
An AI-guided invariant signature places MIS-C with Kawasaki disease in a continuum of host immune responses.
bioRxiv2021 Apr;():. doi: 2021.04.11.439347.
Sahoo Debashis, Katkar Gajanan D, Shimizu Chisato, Kim Jihoon, Khandelwal Soni, Tremoulet Adriana H, Kanegaye John, Bocchini Joseph, Das Soumita, Burns Jane C, Ghosh Pradipta, ,
Abstract
A significant surge in cases of multisystem inflammatory syndrome in children (MIS-C, also called Pediatric Inflammatory Multisystem Syndrome - PIMS) has been observed amidst the COVID-19 pandemic. MIS-C shares many clinical features with Kawasaki disease (KD), although clinical course and outcomes are divergent. We analyzed whole blood RNA sequences, serum cytokines, and formalin fixed heart tissues from these patients using a computational toolbox of two gene signatures, i.e., the 166-gene viral pandemic (ViP) signature, and its 20-gene severe (s)ViP subset that were developed in the context of SARS-CoV-2 infection and a 13-transcript signature previously demonstrated to be diagnostic for KD. Our analyses revealed that KD and MIS-C are on the same continuum of the host immune response as COVID-19 but diverge with two different cardiac phenotypes. The ViP signatures helped unravel the nature of the host immune response (IL15-centric) in MIS-C and KD, reveal unique targetable cytokine pathways in MIS-C, place MIS-C farther along in the spectrum in severity compared to KD and pinpoint key clinical (reduced cardiac function) and laboratory (thrombocytopenia and eosinopenia) parameters that can be useful to monitor severity.
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Original Article--Outcomes of Pacing in Egyptian Pediatric Population.
J Saudi Heart Assoc2021 ;33(1):61-70. doi: 10.37616/2212-5043.1244.
Ali Ahmed Nabil, Wafa Samir S, Arafa Hosni Hosni, Samir Rania,
Abstract
Objectives:
Permanent pacemakers are widely used in the pediatric population due to congenital and surgically acquired rhythm disturbances. The diversity and complexity of congenital heart diseases make device management a highly individualized procedure in pediatric pacing. We are also faced with special problems in pediatric age group as growth, children's activity and infection susceptibility. This study aimed to present our institute's experience in pediatric and adolescent pacemaker implantation and long-term outcomes.
Methods:
This cross-sectional observational study included 100 pediatric patients who visited our outpatient clinics at Ain Shams University Hospitals for regular follow up of their previously implanted permanent pacemakers. All patients were subjected to history taking, clinical examination, ECG recording, echocardiography and elaborate device programming. Data about device types, device components' longevity, subsequent procedures, complications were collected, with comparison between epicardial and endocardial pacemakers.
Results:
Our study population ranged in age from 8 months to 18 years (mean 13.12 ± 5.04 years), 51 were males and 53 patients had congenital heart disease. Epicardial pacing represented 26% of our total population using only VVIR pacemakers, while endocardial pacing represented 74% of our population with 58.1% of them being VVIR pacemakers. First battery longevity was higher in endocardial batteries (108 months vs. 60 months, p value: 0.007). First lead longevity was also higher in endocardial leads (105 moths vs. 58 months, p value: 0.006). Complication rate was 25%; 8 patients had early complications (one insulation break in endocardial group). Late complications occurred in 17 patients (10 patients had lead fracture; 9 of them were endocardial, 2 insulation breaks in endocardial leads, 3 patients from epicardial group had lead failure of capture). In total, 16 patients had lead-related complications. There was no statistically significant difference between different lead models regarding lead-related complications.
Conclusion:
Pacemakers in children are generally safe, but still having high rates of lead-related complications. Lead failure of capture was more common in epicardial leads. These complications had no relation to the model of the leads. Endocardial pacemakers showed higher first lead and first battery longevity compared to epicardial pacemakers.
© 2021 Saudi Heart Association.
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Original Article--Surgical site infections following pediatric cardiac surgery in a tertiary care hospital: Rate and risk factors.
J Saudi Heart Assoc2021 ;33(1):1-8. doi: 10.37616/2212-5043.1234.
Alshaya Milad A, Almutairi Nouf S, Shaath Ghassan A, Aldosari Rahmah A, Alnami Sadeem K, Althubaiti Alaa, Abu-Sulaiman Riyadh M,
Abstract
Background:
Surgical site infections [SSIs] are the second most common type of healthcare-associated infections and leading cause of postoperative morbidity and mortality in pediatric cardiac surgery. This study aims to determine the rate of, risk factors for, and most common pathogen associated with the development of SSIs after pediatric cardiac surgery.
Methods:
Patients aged ?14 years who underwent cardiac surgery at our tertiary care hospital between January 2010 and December 2015 were retrospectively reviewed.
Results:
The SSI rate was 7.8% among the 1510 pediatric patients reviewed. Catheter-associated urinary tract infection [CAUTI] [odds ratio [OR] 5.7; 95% confidence interval [CI] 2.3-13.8; P < 0.001], ventilator-associated pneumonia [VAP] [OR 3.2; 95% CI 1.4-7.2; P = 0.005], longer postoperative stay [?25 days] [OR 4.1; 95% CI 2.1-8.1; P < 0.001], and a risk adjustment in congenital heart surgery [RACHS-1] score of ?2 [OR 2.4; 95% CI 1.2-5.6; P = 0.034] were identified as risk factors for SSIs. was the most common pathogen [32.2%].
Conclusions:
SSI risk factors were longer postoperative stay, CAUTI, VAP, and RACHS-1 score of ?2. Identification and confirmation of risk factors in this study is important in order to reduce the rate of SSIs following cardiac surgery.
© 2021 Saudi Heart Association.
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Effect of Isolated Obesity on Left Ventricular Function and Structure: A Single-Center Experience.
Cureus2021 Mar;13(3):e13988. doi: 10.7759/cureus.13988.
AlRahimi Jamilah, Aboud Abdulbari, AlQuhaibi Abdullah S, Almaghrabi Yazan, Alghamdi Yousef S, Mufti Hani N,
Abstract
Background and objectives Obesity can increase cardiac mass and affect cardiac performance independently from other risk factors. Several studies have identified an association in patients who already have comorbidities, however, few studies focused on obesity as an isolated risk factor. This study aimed to assess the associations between isolated obesity and heart morphological and functional characteristics. Methods This was a cross-sectional study that recruited 114 patients referred for echocardiographic study in King Faisal Cardiac Center. Adult patients who had a body mass index (BMI) above 25 kg/m were included, while patients with comorbidities such as hypertension, diabetes mellitus, dyslipidemia, or those who use medications for chronic diseases were excluded from this study. Variables of interest that we collected were age, gender, weight, BMI, and those related to morphological and functional changes in the heart including left ventricular mass index (LVMI), LV end-diastolic volume, and left ventricular ejection fraction (LVEF). Results Most of the study participants (63.8%) were class II or class III obesity and about 80% were males. The mean ± SD of LVEF was 55.7% ± 2.8%, while the mean of the left ventricular mass index was 28.5±5.84. The mean of LV end-diastolic volume index (LVEDVI) was slightly higher among males than females (48.8±11.6 versus 46.4±11.7 ml/m), however, this difference was not statistically significant (p-value= 0.395). There was no correlation between BMI and LVMI in females (R - 0.226, R 0.05, P-value 0.37), while the LVMI was found to have a negative correlation between BMI and male gender that was significant (R - 0.292, R 0.09, P-value 0.0052). It was found that there is no correlation between LVEF and BMI for males and females (male= R 0.093, R0.032, P-value 0.093; female= R 0.172, R 0.029, P-value 0.434). With regards to the LVEDVI, there was a negative correlation between higher BMI and male gender that was significant (male= R - 0.396, R 0.157, P-value 0.0001) while it was not significant in females (R -0.0298, R 0.0009, P-value 0.893). Conclusions We have found that cardiac function is not affected by isolated obesity. However, indexed cardiac parameters like LVM and LV end diastolic volume were negatively correlated with higher BMI and positively correlated with relative wall thickness (RWT) only in males. This negative correlation might be one of the triggers to the development of obesity-induced cardiomyopathy.
Copyright © 2021, AlRahimi et al.
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Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.
J Hum Genet2021 Apr;():. doi: 10.1038/s10038-021-00922-0.
Acharya Anushree, Raza Syed Irfan, Anwar Muhammad Zeeshan, Bharadwaj Thashi, Liaqat Khurram, Khokhar Muhammad Akram Shahzad, Everard Jenna L, Nasir Abdul, , Nickerson Deborah A, Bamshad Michael J, Ansar Muhammad, Schrauwen Isabelle, Ahmad Wasim, Leal Suzanne M,
Abstract
BACKGROUND:
Wolfram syndrome (WFS) is characterized by deafness, diabetes mellitus, and diabetes insipidus along with optic atrophy. WFS has an autosomal recessive mode of inheritance and is due to variants in WFS1 and CISD2.
METHODS:
We evaluated the underlying molecular etiology of three affected members of a consanguineous family with hearing impairment, bicuspid aortic valve, diabetes mellitus and insipidus, clinodactyly, and gastrointestinal tract abnormalities via exome sequencing approach. We correlated clinical and imaging data with the genetic findings and their associated phenotypes.
RESULTS:
We identified a homozygous missense variant p.(Asn1097Lys) in CDK13, a gene previously associated with autosomal dominant congenital heart defects, dysmorphic facial features, clinodactyly, gastrointestinal tract abnormalities, intellectual developmental disorder, and seizures with variable phenotypic features.
CONCLUSION:
We report a homozygous variant in CDK13 and suggest that this gene causes an autosomal recessive disorder with hearing impairment, bicuspid aortic valve, diabetes mellitus and insipidus, clinodactyly, and gastrointestinal tract abnormalities.
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Isolated absent right pulmonary artery in an infant with 22q11 deletion.
Cardiol Young2021 Apr;():1-3. doi: 10.1017/S1047951121001487.
Garg Ankit, Azad Sushil, Radhakrishnan Sitaraman,
Abstract
DiGeorge syndrome is a rare spectrum of disorder affecting structures derived from third and fourth pharyngeal pouches characterised by aplasia or hypoplasia of thymus and parathyroid glands, and conotruncal anomalies. Presentation includes infants with hypocalcemic seizures, CHD, or recurrent infection. This case report illustrates a unique combination of proximal interruption of right pulmonary artery and aberrant right subclavian artery in a 3-month-old infant who was subsequently diagnosed as DiGeorge syndrome. This constellation of vascular anomalies in an infant with DiGeorge syndrome has not been previously reported in the literature.
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Midterm follow up of transcatheter closure of coronary artery fistula with Nit-Occlud® patent ductus arteriosus coil.
BMC Cardiovasc Disord2021 Apr;21(1):192. doi: 10.1186/s12872-021-01999-3.
Amoozgar Hamid, Edraki Mohammad Reza, Naghshzan Amir, Mehdizadegan Nima, Mohammadi Hamid, Ajami Gholamhossein, Amirghofran Ahmad Ali,
Abstract
BACKGROUND:
Coronary artery fistula (CAF) is a rare congenital anomaly with a challenging scenario in children. This study reports our experience in transcatheter closure of CAF with Nit-Occlude PDA coil and midterm clinical and imaging follow-up.
METHODS:
Twelve children with congenital CAF between 2009 and 2019, mean age 2.05?±?2.05 years (4 days to 7.2 years), mean weight 8.8?±?4.83 (2.8-17 kg), who underwent transcatheter closure with PFM coil at the Namazi hospital, Shiraz, Iran, were reported. Echocardiography and electrocardiogram were done before and after the procedure (early, 3, and 6 months after), and Multi-slice computerized tomography or conventional coronary angiography was performed at least one year after closure.
RESULTS:
In a median follow-up of 5.5 years (range 13 months to 8 years), retrogradely closed fistula had no residual, and the fistula tract was wholly occluded, but in most anterogradely closed fistula, had a small residual, which made the fistula tract open and need additional coil closure.
CONCLUSIONS:
Transcatheter closure of CAF with PFM coil is feasible and effective with low mortality and morbidity, although antegrade closure with this device may be accompanied by residual shunt and need for multiple coil insertion.
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Fetal counseling for congenital heart disease: is communication effective?
J Matern Fetal Neonatal Med2021 Apr;():1-5. doi: 10.1080/14767058.2021.1874909.
Holmes Kathryn W, Huang Jennifer H, Gutshall Kristine, Kim Amanda, Ronai Christina, Madriago Erin J,
Abstract
PURPOSE:
To assess the accuracy of maternal understanding of fetal cardiac defects following initial fetal counseling.
METHODS:
Pregnant women with a fetal diagnosis of congenital heart disease (CHD) were surveyed regarding understanding of their fetus's heart defect. The survey asked: (1) for a description of the heart condition; (2) how confident they were in the diagnosis; (3) whether their fetus would require heart surgery. Two fetal cardiologists evaluated the maternal qualitative description. Partners were excluded from the study.
RESULTS:
Fifty-one participants consented and 39 completed the survey. Mean age was 31?years, 60% had some college level or post-graduate education, 48% had Medicaid insurance, and 81% were Caucasian. More than three-quarters of participants, stated they had either "quite a bit" or "very much" understanding of their fetus's diagnosis. Maternal assessment matched the physician's assessment of accuracy with 77% (?=?30) demonstrating either "quite a bit" or a "very accurate" description of the diagnosis. All women correctly understood if their fetus would require heart surgery. Highest level of maternal education positively correlated with the accuracy of diagnosis (regression coefficient 0.48, < .002). However, confidence in the diagnosis was independent of both education (0.30, = .167) and maternal age (-0.03, = .234).
CONCLUSIONS:
Fetal counseling is effective in conveying anatomy and the need for surgery; however, accuracy amongst women with lower levels of education and maternal confidence in understanding can be improved.
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Alterations in the lipid profile associate with a dysregulated inflammatory, prothrombotic, anti-fibrinolytic state and development of severe acute kidney injury in coronavirus disease 2019 (COVID-19): A study from Cincinnati, USA.
Diabetes Metab Syndr2021 Apr;15(3):863-868. doi: S1871-4021(21)00123-5.
Henry Brandon M, Szergyuk Ivan, de Oliveira Maria Helena Santos, Abosamak Mohammed Fawzi, Benoit Stefanie W, Benoit Justin L, Lippi Giuseppe,
Abstract
BACKGROUND AND AIMS:
Reduction of atherogenic lipoproteins is often the ultimate goal of nutritional interventions, however this is complicated given that hypolipidemia is frequently observed in coronavirus disease 2019 (COVID-19) patients. We aimed to explore the association of hypolipidemia with patient outcomes in terms of immunothrombosis and multiorgan injury, focusing on specialized apolipoproteins apo A1 and apo B.
METHODS:
Lipid profiles of 50 COVID-19 patients and 30 sick controls presenting to the Emergency Department (ED) were measured in this prospective observational study. The primary outcome was development of severe acute kidney injury (AKI). Need for hospitalization and ICU admission were secondary outcomes. Lipoproteins were analyzed for independent association with serum creatinine (SCr) increase ratio and correlated with a wide panel of biomarkers.
RESULTS:
COVID-19 cohort had significantly lower apo A1 (p = 0.006), and higher apo B/apo A1 ratio (p = 0.041). Patients developing severe AKI had significantly lower LDL-C (p = 0.021). Apo B/apo A1 was associated with 2.25-fold decrease in serum SCr increase ratio, while LDL-C with a 1.5% decrease. Hypolipidemia correlated with low plasminogen, ADAMTS13 activity/VWF:Ag, and high inflammatory biomarkers (CRP, IL-6, IL-8, IL-10), plasminogen activator inhibitor-1 (PAI-1), ED creatinine, and SCr increase ratio.
CONCLUSION:
Although favored in dietetics, findings of a low LDL-C in COVID-19 patients should be alarming in light of our observations. Low apo B/apo A1 ratio and LDL-C are predictive of renal deterioration in COVID-19 patients, and low LDL-C in particular may potentially serve to indicate COVID-19 related AKI driven by disrupted fibrinolysis and a secondary thrombotic microangiopathy-like process.
Copyright © 2021 Diabetes India. Published by Elsevier Ltd. All rights reserved.
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Commentary: The Crow and the Pitcher- Necessity is the Mother of Invention for Right Ventricular Outflow Tract Reconstruction.
Semin Thorac Cardiovasc Surg
