Pediatric Cardiology Clinic Research Articles

Physician-Pharmacist Collaborative Drug Therapy Management in Pediatric Hypertension.

Pediatric hypertension affects 2% to 5% of children and adolescents in the United States and is frequently undertreated. The increasing prevalence of pediatric hypertension and worsening physician shortage create difficulties in closing this treatment gap. Physician-pharmacist collaborations have been shown to improve patient outcomes in adult patients. Our aim was to demonstrate a similar benefit for pediatric hypertension. Pediatric patients whose hypertension was managed at a single pediatric cardiology clinic from January 2020 to December 2021 were enrolled in collaborative drug therapy management (CDTM). Patients whose hypertension was managed in the same clinic from January 2018 to December 2019 were used as a comparison group. The primary outcomes were achievement of at-goal blood pressure at 3, 6, and 12 months and time to control of hypertension. Secondary outcomes were appointment adherence and serious adverse events. A total of 151 patients were included in the CDTM group, and 115 patients were included in the traditional care group. Of those, 100 CDTM patients and 78 traditional care patients were assessed for the primary outcome. Fifty-four (54%) CDTM patients and 28 (36%) traditional care patients achieved at-goal blood pressure at 12 months (OR, 2.09; 95% CI, 1.14-3.85). Appointment non-adherence was 9.4% for CDTM and 16% for traditional care (OR, 0.54; 95% CI, 0.35-0.82). Adverse events were similar between groups. CDTM increased rates of at-goal blood pressure without increased adverse events. Physician-pharmacist collaboration may improve treatment of hypertension in pediatric patients.

Risk factors related with congenital heart disease: a single center experience

Aims: Many cases of congenital heart disease are multifactorial and result from a combination of genetic predisposition and an as-yet-to-be-determined environmental stimulus. The purpose of the study is to determine the patients who were diagnosed with CHD through echocardiography and to reveal the risk factors that may cause congenital heart anomalies in our center. Methods: The medical records of pediatric patients applied to our pediatric cardiology clinic between January 2010 –December 2017 were retrospectively reviewed. Results: 147 cases were diagnosed with CHD. 60 (52.6%) of the cases were female and 54 (47.4) were male. 77 of the 114 patients included in the study were acyanotic (67.5%) and 37 (32.5%) were cyanotic. Seventeen of the acyanotic patients had mixed CHD. The mean maternal gestational age was 28.2±5.78 years. 26 (22.8%) were born preterm. 17 (14.9 %) patients were born with low birth weight (under 2500 g). 8 (7%) patients were LGA (large for gestational age) (birth weight over 4000 g). Average birth weight was 2,98±740,8 gr. Consanguinity was found in the parents of 28 (24.5%) patients. There was a history of CHD in the relatives of 6 (5.2%) patients, siblings of 4 (3.5%) patients, and parents of 5 (4.3%) patients. Chromosomal abnormalities were found in 9 (7.9%) patients. Conclusion: Our study is a valuable contribution to the existing literature in that it showed that the frequency and distribution of congenital heart diseases have not changed in recent years, and its findings are compatible with the literature findings.

Pediatrik Göğüs Deformitelerinin Klinik, Demografik ve Ekokardiyografik Özellikleri

Objective: We aimed to retrospectively evaluate the clinical, demographic, clinical and echocardiographic findings of children diagnosed with chest deformity in the pediatric cardiology clinic.
 Material and Method: This study enrolled children under the age of 18 years who were referred with chest deformity to our pediatric cardiology unit, over a period of six years (January 2017-December 2022).
 Results: The mean age of the patients was 9.9 ± 5.2 years, median 11 years (0-18 years old). 89 patients with abnormal echocardiographic findings: 42 (9.56%) mitral valve prolapse, 18 (4.1%) atrial septal defect, 9 (2%) ventricular septal defect, 8 (1.82%) bicuspid without aortic valve stenosis aortic valve, 5 (1.1%) patent ductus arteriosus, 2 (0.45%) pulmonary stenosis, 2 (0.45%) great artery transposition, 2 (0.45%) hypertrophic cardiomyopathy, subaortic ridge 1 (% 0.27). Cardiac compression was present in 13.4% of the cases with pectus excavatum. 13(%3) patients were operated by a thoracic surgeon. Marfan Syndrome was diagnosed in 7 patients and Noonan Syndrome was diagnosed in 2 patients who applied to our clinic with chest deformity.
 Conclusion: We suggest that echocardiographic examination in patients with chest deformity is important in the diagnosis of congenital heart diseases, early diagnosis and treatment of heart compression finding.

Evaluation of the heart sounds in children using a Doppler Phonolyser

BackgroundHeart auscultation is an easy and inexpensive tool for early diagnosis of congenital heart defects. In this regard, a simple device which can be used easily by physicians for heart murmur detection will be very useful. The current study was conducted to evaluate the validity of a Doppler-based device named “Doppler Phonolyser” for the diagnosis of structural heart diseases in pediatric patients. In this cross-sectional study, 1272 patients under 16 years who were referred between April 2021 and February 2022, to a pediatric cardiology clinic in Mofid Children Hospital, Tehran, Iran, were enrolled. All the patients were examined by a single experienced pediatric cardiologist using a conventional stethoscope at the first step and a Doppler Phonolyser device at the second step. Afterward, the patient underwent trans-thoracic echocardiography, and the echocardiogram results were compared with the conventional stethoscope as well as the Doppler Phonolyser findings.ResultsSensitivity of the Doppler Phonolyser for detecting congenital heart defects was 90.5%. The specificity of the Doppler Phonolyser in detecting heart disease was 68.9% in compared with the specificity of the conventional stethoscope, which was 94.8%. Among the most common congenital heart defects in our study population, the sensitivity of the Doppler Phonolyser was 100% for detection of tetralogy of Fallot (TOF); In contrast, sensitivity of both the conventional stethoscope and the Doppler Phonolyser was relatively low for detecting atrial septal defect.ConclusionsDoppler Phonolyser could be useful as a diagnostic tool for the detection of congenital heart defects. The main advantages of the Doppler Phonolyser over the conventional stethoscope are no need for operator experience, the ability to distinguish innocent murmurs from the pathologic ones and no effect of environmental sounds on the performance of the device.

Subclinical myocardial assessment after BNT162b2 messenger RNA COVID-19 vaccination in adolescents with chronic heart disease: a speckle-tracking echocardiography study.

Case reports of the development of perimyocarditis in adolescents and young adults after BNT162b2 messenger RNA (mRNA) COVID-19 vaccination have raised concerns about the cardiac side effects of the vaccine. The aim of the study was to evaluate clinical follow-up and subclinical myocardial function after mRNA COVID-19 vaccine in adolescents with chronic heart disease. Forty-one adolescents aged 12-18 who were followed up at paediatric cardiology clinic between December 2021 and May 2022, and who had received two doses of the Pfizer-BioNTech COVID-19 mRNA vaccine were included in the study. The patients were evaluated five times in total - before the vaccination, one week after receiving the first dose, one month after receiving the first dose, one week after receiving the second dose, and one month after receiving the second dose. Cardiac assessment for all patients included an electrocardiogram, transthoracic echocardiography, and two-dimensional speckle-tracking strain echocardiography for left ventricular subclinical myocardial function. The mean age of the adolescents was 16.2 ± 1.5 years, and 56% (n = 23) were male. There was no statistically significant difference in patients' echocardiographic measurements including left ventricular global longitudinal strain and electrocardiogram parameters including PR, QRS, and QTc intervals through the follow-up. Seven patients reported cardiac complaints at post-vaccination follow-up visits, but laboratory and echocardiographic evidence of cardiac involvement was not observed. Based on the results of our study, the mRNA COVID-19 vaccine did not cause impairment in subclinical myocardial function assessed by speckle-tracking echocardiography in adolescents with chronic heart disease.

VACTERL Association in Kano, North-West Nigeria

VACTERL association is a term used to describe the simultaneous occurrence of at least 3 of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformation, tracheo-oesophageal fistula, renal dysplasia, and limb abnormalities. Most cases occur sporadically with an estimated incidence rate of 1 in 10,000 – 40,000 births. We report the case of an 11-month-old infant that presented with a complaint of recurrent cough and difficulty in breathing since 1 month of life. There is also the history of delayed motor developmental milestones. Physical examination and investigations revealed the presence of VACTERL association (bilateral talipes equinovarus deformity, multiple cardiac shunt lesions, and malformation of the 5th lumbar vertebrae with dural ectasia and lumbosacral scoliosis). She has been on oral diuretics and is currently on follow-up in pediatric cardiology, orthopedic, and neurosurgery clinics. This case report highlights the presence of a rare case of the VACTERL association in Kano, North-West Nigeria.

PS-C08-11: RELATIONSHIP OF AMBULATORY WAKE SYSTOLIC BLOOD PRESSURE AND COGNITIVE FUNCTIONING IN CHILDREN AND ADOLESCENTS: THE SHIP-AHOY STUDY

Objective: 24-Hour Ambulatory blood pressure monitoring (ABPM) has been shown to be associated with cognitive functioning in both adults and children with hypertension. Few studies have examined this relationship in youth with normal to mildly elevated blood pressure (BP). We aimed to address this gap in the literature by examining the relationship between average wake systolic BP and targeted cognitive abilities in children and adolescents with normal to mildly elevated BP. Design: Cross-sectional cohort study across six academic centers in the United States. Methods: Participants were part of the SHIP AHOY Project examining target organ damage in children and adolescents with normal to mildly elevated BP. Patients were recruited from pediatric nephrology and/or cardiology clinics and had BP levels > 75th percentile to > 95th percentile). Ascertainment was designed to balance BMI across this BP range by actively recruiting normotensive subjects with obesity. Exclusion criteria included stage 2 hypertension, use of antihypertensive or lipid-lowering medication in the past 6 months, diabetes mellitus (type 1 or 2), kidney disease, or other chronic medical conditions. The primary exposure for this study was average wake Systolic BP. Cognitive variables included the Test of Nonverbal Intelligence, Woodcock-Johnson-V Verbal Attention, and Conners Continuous Performance Test-3 Errors of Omission and Errors of Commission. Preliminary analyses comprised the use of unadjusted linear regressions for the entire sample, with follow-up analyses planned to include key covariates for any significant findings. Results: We recruited 397 adolescents, ages 11–19 years (M∼15.5 yrs.), who comprised approximately 60% males and 53% white. About 25% of the participants had caregivers with a high school degree or less. About 40% of the sample had elevated BP (> 90th percentile). There was a significant relationship between wake average systolic BP and Verbal Attention (p < .009); and wake average systolic BP and Errors of Commission (p < .026). All findings were in the expected direction with higher average wake BP being related to lower performance on the attention-related variables. SBP and Errors of Omission approached significance (p < .07), while Nonverbal IQ was nonsignificant (p < .34). Conclusions: Higher average wake BP, even in adolescents with BP below the hypertensive range, is associated with lower performance on tests of attention regulation and response inhibition. These findings suggest that efforts to minimize associated neurocognitive dysfunction in the late adolescence and young adult years should begin before the presence of hypertension.

Assessment of the patients referred to the pediatric cardiology clinic due to

Assessment of the patients referred to the pediatric cardiology clinic due to

Etiological Evaluation in Children Referred to the Pediatric Cardiology Outpatient Clinic with Chest Pain.

One of the most common reasons for pediatric cardiology referrals is chest pain in childhood. Although it is mostly innocent in character, it is rarely associated with life-threatening pathologies. In this study, it was aimed to evaluate the etiological causes in children with chest pain. Our study included 1000 children who were referred to the pediatric cardiology clinic with the complaint of chest pain between January 2019 and June 2022. Demographic characteristics, accompanying complaints, echocardiographies, electrocardiographies, 24-h rhythm holters, treadmill exercise test, computed tomography angiography, and non-cardiac findings related to etiology were analyzed retrospectively from the file archives of the patients. Five hundred and nine (50.9%) of the patients were female and 491 (49.1%) were male. The mean age of the patients was 11.3 y (range: 3-18 years). Cardiological pathology associated with chest pain was detected in only 6.8% of the patients. Among the etiologies of chest pain, mitral valve prolapse (MVP) was the most common cardiological pathology with a rate of 2.1%. In the non-cardiac etiological evaluation of chest pain, idiopathic causes with a frequency of 48%, musculoskeletal pathologies with a frequency of 22.6%, respiratory pathologies with a frequency of 7.9%, psychiatric pathologies with a frequency of 7.3%, gastrointestinal pathologies with a frequency of 4.1%, and familial Mediterranean fever with a frequency of 2.4%, miscellaneous with a frequency of 1.1% were found, respectively. In the study, it was determined that non-cardiac causes were more common among the etiological causes of chest pain in the pediatric age group. In addition, MVP was the most common cause of cardiac chest pain.

CONGENITAL HEART DEFECTS IN INFANTS WITH A CONGENITAL DIAPHRAGMATIC HERNIA: A SINGLE-CENTER EXPERIENCE

Objectives: Congenital heart disease (CHD) is the most common congenital anomaly and in association with diaphragmatic hernia (DH) develops significant morbidity and mortality outcomes. We aimed to determine the frequency of CHD in patients with DH and the effect of their relationship at our center. Methodology: This retrospective study considered all patients with congenital DH, who were referred to the pediatric cardiology Clinic of Imam Reza Hospital to evaluate for congenital heart disorders from March 2002 and December 2019. Findings were divided into two groups: normal structure heart and minor anomalies and major congenital heart disease that needs follow-up and interferes with surgical planning. Results: Twenty-five cases of congenital heart disease were identified, 17 patients were male (68%), and the mean age of cases was 5.5 months. Moreover, 17 patients (68%) suffered from CHD which was the major congenital heart disease in 10 cases (40%). Eight patients (32%) were diagnosed with normal echocardiography or minor defects such as patent foramen oval or floppy mitral valve with no mitral regurgitation. The most common CHD was ventricular septal defect, observed in six patients (24%). The most frequent non-cardiac malformations were gastrointestinal anomalies, chest deformity and genitourinary anomalies. Conclusion: The most common anomaly in the infants with a congenital diaphragmatic hernia is congenital heart diseases, particularly septal defects. Cardiac consultation in in patients with a congenital diaphragmatic hernia is significant, which is recommended for all the patients before surgery.

Can Vitamin B12 Deficiency Really Cause Vasovagal Syncope? Retrospective Analysis of 469 Pediatric Vasovagal Syncope Cases

Objective: Syncope is a frequent reason for referral to pediatric cardiology clinics. Vitamin B12 deficiency is frequently diagnosed in pediatric patients. In this study, we determined the frequency of vitamin B12 deficiency in pediatric vasovagal syncope (VVS). Methods: This study was designed retrospectively. VVS patients were identified from the hospital registry system with ICD code ‘R55, syncope, and fainting’. The frequency of VVS and vitamin B12 levels of the patients were evaluated. Below 200 ng/L was considered vitamin B12 deficiency. Results: Eight hundred twelve patients were identified with ICD code R55, syncope, and fainting’ in pediatric cardiology hospital records. Two hundred sixteen patients were excluded from the study due to insufficient hospital records. Four hundred and sixty-nine patients were diagnosed with VVS. One hundred and seventy-three patients were excluded from the study because of non-available vitamin B12 level. Ninety-six patients had epileptic sezure/suspected VVS, 28 patients had psychogenic syncope and 3 patients had cardiac syncope. Demographic characteristics, hemoglobin and vitamin B12 levels, and the frequency of vitamin B12 deficiency were similar in the patient and control groups (p>0.05). Two hundred and sixty-four patients had normal vitamin B12 level, whereas 32 patients were diagnosed with vitamin B12 deficiency. Fifty-six patients who had normal vitamin B12 levels experienced frequent VVS and 6 patients with vitamin B12 deficiency experienced frequent VVS (21.2% vs 23.0%, p>0.05). Conclusion: Although VVS can cause serious concern in patients and families, it is unlikely to be a serious underlying disease. Vitamin B12 deficiency was not found at a high rate in this disease as in other studies.

Feasibility and Caregiver Receptiveness to Anxiety Screening in Pediatric Cardiology Clinic: A Pilot Study.

Children with chronic medical conditions, including heart disease, have increased susceptibility to behavioral health concerns. We sought to evaluate the feasibility and parental opinion of anxiety screening in pediatric cardiology clinic. The PROMIS Pediatric Anxiety v2.0 Short Form 8a (PA2-S8) questionnaire was administered to 48 patients presenting to pediatric cardiology clinic for follow-up care. Parents/caregivers were asked their opinion on anxiety screening in cardiology clinic. The survey was completed by 47 out of 48 participants (median age 13, range 9-17). Fourteen (30%) participants had scores suggestive of increased anxiety symptomatology. No trends were identified between PA2-S8 score and age at diagnosis (P = .13), age at survey administration (P = .28), number of lifetime procedures (P = .89), number of noncardiac specialists (P = .13), or underlying cardiac diagnoses (P = .55). Most families (76%) were in favor of the screening effort. This study suggests that anxiety screening in cardiology clinic is both feasible and well-received by families.

Chest Pain in Young Patients (5-15 Years) Referred to Pediatric Cardiology Outpatient Clinic

Background: Chest pain is the communal complaint among pediatric age groups. Chest pain due to heart disease is rare in children and adolescents, with an incidence of less than 6%. History and physical examination may be sufficient to identify the most important etiologies. Aim: The aim of the study is to review various causes of chest pain in young patients admitted to a pediatric cardiology clinic. Method: We retrospectively analyzed the clinical data of our patients visited to emergency or outpatient clinics in our hospital with chest pain from March 2022 to October 2022. A total of 56 patients (36 females and 20 males), aged 5-15 years were included in this study. Follow-up of the patients was carried out by calling all relatives of the patient and asking about the child's condition and chest pain. Clinical history and physical examination were performed. Results: A total of 56 patients between the ages of 5 and 15 were enrolled in the study, with a mean age of 11.78 ± 2.95 years. Six cases (10.7%) were identified to have a cardiac cause. 16 individuals (28.6%) had a respiratory cause identified. 3(5.4%) of patients referred to a gastroenterology clinic with gastrointestinal causes. The diagnosis of idiopathic chest pain was made in 6 individuals (10.7%) after a negative history, physical examination, and testing. Conclusion: Chest pain in children is usually mild. However, thorough physical examination and detailed history should be performed to detect any signs of disease. Keywords: Chest pain, Pediatric patients, Echocardiography.

The Incidence and Clinical Characteristics of Infective Endocarditis in Children: A Five-Year, Single-Centre Retrospective Evaluation.

Infective endocarditis (IE) is a rare disease with high mortality and morbidity. In recent years, an increase in the frequency of infective endocarditis has been observed due to the increase in the survival of cases with congenital heart diseases (CHDs) and the use of central catheters. In addition to revealing the incidence of IE in our clinic, this study aimed to evaluate the demographic characteristics, predisposing factors, clinical, laboratory, microbiological, and echocardiographic findings, and the complications of follow-up of our patients diagnosed with IE in light of the literature. Thirteen patients with IE who were hospitalized in Pediatric Cardiology Clinic, Pamukkale UniversityMedical Faculty Hospital between January 2016 and August 2021 were retrospectively reviewed. The patients included in the study were evaluated in terms of demographic characteristics, predisposing factors, clinical, laboratoryand microbiological findings, echocardiography data, surgical intervention needs, and complications. The incidence of IE in our clinic was defined as the rate of IE among patients admitted to the hospital and reported as the number of patients with IE per 100,000 hospital admissions. The median age of these 13 patients was 11 (7-14) years, and the male/female ratio was 6/7. The five-year IE incidence in Pediatric Cardiology Clinic, Pamukkale UniversityMedical Faculty Hospital, was found to be 2.5 in approximately 100,000 hospital admissions. A predisposing factor was detected in all patients. Six patients (46%) had CHDs, and four patients (31%) had acquired heart disease. The other three (23%) patients were receiving immunosuppressive therapy, and these patients had long-term port catheters.Eight (62%) patients had positive blood cultures.Streptococcusviridans, Streptococcus gordonii, Staphylococcus aureus, coagulase-negativeStaphylococcus, Brucella spp, and Candida albicans were isolated in the blood cultures of these patients. IE-related complications developed in seven (54%) patients. Five (38%) had heart failure, three patients (23%) had thromboembolic events, two (15%) had glomerulonephritis, and one (8%) had thrombophlebitis. Four patients were referred to early surgery. Two patients with recurrent IE attacks were referred to surgery after their treatment was completed. The incidence of IE has shown an increase recently with increased rates of survival attributable to corrective surgeries performed for congenital heart diseases, increased prosthetic materials used in cardiac surgeries, and increased use of permanent catheters. In our study, theincidence of IE was found to be 2.5 in 100,000 hospital admissions. Our results have shown that rheumatic heart diseases, besides CHDs, are still an important risk factor for Turkey. Due to the low number of cases in IE studies in the pediatric population, there is a need for further studies to be conducted in large series in this field.

The influence of somatic maturity on the relationship between the triglyceride/high-density lipoprotein ratio and vascular health in children and adolescents with dyslipidemia.

Both the triglyceride to HDL cholesterol (TG/HDL) ratio and timing of pubertal maturation have been identified as independent contributors to the development of atherosclerosis. The purpose of our study was to determine the relationship between the TG/HDL ratio and measures of vascular health in children and adolescents with dyslipidemia stratified by somatic maturity. We hypothesized that somatic maturity would have a significant interaction with TG/HDL ratio and vascular health. This was a longitudinal analysis of 120 children and adolescents (age 8-14 years) with dyslipidemia recruited from a pediatric preventive cardiology clinic. At baseline and each follow-up visit, a non-fasting serum lipid panel was collected and vascular health (carotid artery intima--media thickness, pulse wave velocity, augmentation index) was assessed. Peak height velocity (PHV) was calculated at each visit, and participants were stratified into groups by maturity offset (pre-PHV, mid-PHV, post-PHV). A mixed model design permitted baseline and follow-up visits to be classified as discrete data points. Of the n=235 data points (pre-PHV=23%, mid-PHV=19%, and post-PHV=58%), we identified no significant interaction between TG/HDL ratio, maturity offset, and measures of vascular structure or function. There was also no significant relationship found between TG/HDL and maturity group. Within the mid-pubertal group, there was weak relationship found between TG/HDL and augmentation index. Despite the well-described relationship between early pubertal maturation and development of cardiovascular risk factors in adulthood, we found that vascular damage resulting from an elevated TG/HDL ratio is not independently associated with somatic maturity.

Spectrum of cyanotic congenital heart disease in full term neonates attending paediatric cardiology clinic of a Tertiary Cardiac Care Centre.

Objective: To determine the spectrum of cyanotic congenital heart disease (CCHD) in full term neonates attending paediatric cardiology clinic of a tertiary cardiac care centre. Study Design: Descriptive Cross-sectional study. Setting: Department of Paediatric Cardiology, Faisalabad Institute of Cardiology (FIC), Faisalabad. Period: January 2021 to June 2021. Material & Methods: All full term newborn of any gender with age range from day one to twenty eight days, presenting in emergency or out patient department of the institute and diagnosed as a case of CCHD at Faisalabad Institute of Cardiology on the basis of echocardiography were included in the study.The leading or main anatomical diagnosis of hemodynamically significance was adopted. The spectrum of CCHD was assessed by descriptive analysis. Results: A total of 87 patients were enrolled. Mean age was 15.7±7.98 days. There were 55.2% (n=48) male and 44.8% female (n=39) patients. Majority of patients (62.1%) presented as an emergency. Most CCHDs were of decreased pulmonary blood flow (69%, n=60). Tetralogy of Fallot was the most common CCHD seen in 25.3% neonates (n=22) followed by Transposition of great arteries (23%, n=20) and pulmonary atresia (18.4%, n=16). Ebstein anomaly of tricuspid valve was the least common CCHD (2.3%). Conclusion: Tetralogy of Fallot is the most common cyanotic congenital heart disease followed by TGA while Ebstein anomaly is the least common.

The Predictability of Echocardiography in Children with Primary Pulmonary Hypertension and Its Comparison with Cardiac Catheterization Parameters

Background: Pulmonary hypertension (PH) is a serious problem with high mortality in children, so early diagnosis of this condition is critical. Echocardiography is a non-invasive hemodynamic assessment tool, which facilitates serial follow-ups for hypertensive patients. Objectives: The aim of this study was to evaluate the importance of echocardiographic parameters in children with PH and their correlation with cardiac catheterization parameters. Methods: This cross-sectional study was performed on the records of 20 children with primary PH referred to the pediatric Cardiology Department and clinic of Imam Reza Hospital, Mashhad, Iran, during 2001-2016. The correlation between echocardiography and cardiac catheterization findings was assessed to determine the predictability of echocardiographic parameters in primary pulmonary hypertension. Results: Based on the findings, the mean values of tricuspid regurgitation pressure gradient (TRPG) and peak early diastolic transpulmonary valve pressure gradient (PRPG) were 76.33 ± 22.8 and13.18 ± 44.2 mmHg, respectively. The mean of RA systolic pressure, RA diastolic pressure, RA mean pressure were 13.62 ± 4.43, 5.12 ± 2.1, and 6.77 ± 4.08, respectively. The analysis of data showed a significant correlation between systolic pulmonary artery pressure (PAP) and TRPG (r = 0.62; P = 0.008). We found no significant correlation between systolic PAP and PRPG (r = 0.58; P = 0.03). Additionally, diastolic PAP significantly correlated with TRPG (r = 0.67; P = 0.003) and PRPG (r = 0.64; P = 0.04). Moreover, a significant correlation was observed between mean PAP and TRPG (r = 0.66; P = 0.004) and PRPG (r = 0.64; P = 0.04). Conclusions: Echocardiographic approach is a safe and sensitive method for diagnosis of primary pulmonary hypertension. We found a strong correlation between mean PAP and two variables of TRPG and PRPG.

A Model for the Integration of Genome Sequencing Into a Pediatric Cardiology Clinic.

Genetic testing in cardiology improves the management of patients and families. Genome Sequencing (GS) is a comprehensive, non-targeted approach to genetic testing, and an established pillar of precision medicine used to increase genetic discoveries, diagnoses, and provide individualized care. Challenges with integrating GS into cardiology include: a lack of genomic literacy, recurrent data interpretation, and returning results to patients. The Cardiac Genome Clinic proposes a multidisciplinary model to support the integration of GS into paediatric cardiology. Preliminary data shows that use of this model supported 1) new diagnoses, 2) identification of medically actionable secondary findings, and 3) improved medication management.

Accuracy of physical examination of cardiovascular system in the diagnosis of common congenital heart diseases in children

BackgroundIt is widely perceived that the value of physical examination in paediatric cardiology has diminished with the increasing availability of echocardiography. The accuracy of physical examination of cardiovascular system in...

Diagnosis of 22q11.2 deletion syndrome in children with congenital heart diseases and facial dysmorphisms

BackgroundCongenital heart diseases (CHDs) are the leading cause of birth defects. Approximately, 30% of CHDs are related to genetic syndromes accompanied by extracardiac anomalies. Aneuploidies and 22q11.2 deletions account for majority of cases. 22q11.2 deletion involves deletion of 30-40 genes, and varying deletions in this region lead to different phenotypes. Fluorescent in situ hybridization probes span a narrow region on chromosome 22 as compared to other recent techniques like multiplex ligation probe amplification assay (MLPA) which may also identify any gene duplications if present. MethodsPresent study was a cross-sectional descriptive study. In total, 350 children with CHD reported to pediatric cardiology clinic during the study period. Of these, 60 children had associated facial dysmorphism. Out of these 60 children, 18 children had clinical phenotype characteristic of Down syndrome and hence these children were excluded from the study. Forty-two children with CHDs (conotruncal and other defects) and craniofacial features (subtle or obvious) suggestive of 22q11.2 deletion spectrum disorder were included in this study. ResultsNineteen percent of children presenting with CHDs and facial dysmorphisms had 22q11.2 deletion syndrome. All the samples were subjected to karyotyping. ConclusionMetaphase FISH has been the method of choice for microdeletions. However, apart from technical challenges and longer turnaround time, FISH probes span a very narrow region in 22q11.2 chromosome (LCR22 D) and provide information about DiGeorge syndrome (DGS) only. Take home message is that patients of CHDs with facial dysmorphism should be investigated in an approach-based manner.