Transcatheter management of life-threatening pulmonary arteriovenous fistula with extracorporeal membrane oxygenation support in an infant.

Pulmonary arteriovenous malformation is a rare disease leading to cyanosis, where there is a direct relation between the pulmonary artery and pulmonary vein without a capillary structure. Arteriovenous fistulae may be single or multiple. Clinical signs emerge depending on the size of the fistulae and amount of shunt. Due to the advancements in transcatheter devices and increased experience render enable the fistula embolisation procedure as an alternative to surgical treatment. Extracorporeal membrane oxygenation is used to support the patient haemodynamically and respirationally in cases of treatment-resistant, severe and revocable cardiac or pulmonary sufficiency. This paper presents an infant patient with pulmonary arteriovenous malformation, who had haemodynamic instability due to severe hypoxia and received successful transcatheter fistula embolisation via extracorporeal membrane oxygenation under emergency conditions.

Early postnatal metabolic profile in neonates with critical CHDs.

BACKGROUND: Cyanotic CHD is a life-threatening condition that presents with low oxygen saturation in the newborn period. Hypoxemia might cause alterations in the metabolic pathways. In the present study, we aimed to evaluate the early postnatal amino acid and carnitine/acylcarnitine profiles of newborn infants with cyanotic CHD. METHODS: A single centre case-control study was conducted. Twenty-seven patients with cyanotic CHD and 54 healthy newborn controls were enrolled. As part of the neonatal screening programme, results of amino acid and carnitine/acylcarnitine were recorded and compared between groups. RESULTS: Twenty-seven neonates with cyanotic CHD and 54 healthy newborns as controls were enrolled in the study. Cyanotic CHD neonates had higher levels of alanine, phenylalanine, leucine/isoleucine, citrulline, ornithine, C5, C5-OH; but lower levels of C3, C10, C12, C14, C14:1, C16, C16.1, C18, C5-DC, C6-DC, C16-OH, C16:1-OH when compared with the healthy controls. CONCLUSION: This study showed that there are differences between patients with cyanotic CHD and healthy controls in terms of postnatal amino acid and carnitine/acylcarnitine profiles.

Outcomes of Extracorporeal Membrane Oxygenation in Patients After Repair of Congenital Heart Defects.

Extracorporeal membrane oxygenation (ECMO) is widely used after congenital heart surgery. The purpose of this study is to analyze the factors influencing mortality and morbidity in patients who require ECMO support after congenital cardiac surgery. All 109 patients (5.8% of total cases) who underwent ECMO support after congenital heart surgery between January 2014 and 2021 were included in this single-center study. The mean age was 10.13 ± 20.55 months, and the mean weight was 6.41 ± 6.79 kg. 87 (79.8%) of the patients were under 1 year of age. A total of 54 patients (49.5%) were weaned successfully from ECMO support, and 27 of them (24.8%) were discharged. The childhood age group had the best outcomes. Seventy-seven percent of the children were weaned successfully, and 50% were discharged. 69 patients (63.3%) had biventricular physiology; weaning and survival outcomes were better than single ventricle patients (P-value 0.002 and < 0.001, respectively). Low cardiac output (n = 49; 44.9%) as an ECMO indication had better outcomes than extracorporeal cardiopulmonary resuscitation (n = 31; 28.4%) (P = 0.05). Most of the patients had ≥ 4 Modified Aristotle Comprehensive Complexity (MACC) levels, and higher MACC levels were associated with a higher mortality rate. The most common procedure was the Norwood operation (16.5%), with the worst outcome (5.5% survival). Bleeding and renal complications were the most common complications affecting outcomes. Results were more satisfactory in patients with biventricular repair, childhood, and lower MACC levels. Early initiation of ECMO in borderline patients without experiencing cardiac arrest or multiorgan failure may improve outcomes.

Rare combination in an infant patient: trisomy 7p and tetralogy of Fallot.

This case report presents an infant patient with the association of trisomy 7p and tetralogy of Fallot(ToF). Patients diagnosed with trisomy 7p should certainly be scheduled for an echocardiographic exam and be scanned for any CHD that may accompany it. The CHD that most frequently accompany this syndrome include atrial septal defect, ventricular septal defect, and patent ductus arteriosis. Yet, it should be known that ToF may also be present, albeit rarely.

Rare combination in an infant patient: trisomy 7p and tetralogy of fallot.

This case report presents an infant patient with the association of trisomy 7p and tetralogy of fallot (TEF). Patients diagnosed with trisomy 7p should certainly be scheduled for an echocardiographic exam and be scanned for any CHDs that may accompany it. The CHDs that most frequently accompany this syndrome include atrial septal defect, ventricular septal defect, and patent ductus arteriosis. Yet, it should be known that TEF may also be present, albeit rarely.

Analysis of outcomes in patients with abnormal laterality undergoing congenital heart surgery.

OBJECTIVE: Laterality anomalies are almost always associated with severe cardiac anomalies. Demographic properties, type of the procedures, associated anomalies, and early and mid-term prognosis of four types of laterality anomalies were analysed. METHODS: A total of 64 consecutive patients with laterality anomalies were enrolled between July 2014 and July 2020. We grouped the patients as situs solitus dextrocardia (SSD) (n = 12; 18.7%); situs inversus (SI) (n = 16; 25%); right atrial isomerism (RAI) (n = 29; 45.3%); and left atrial isomerism (LAI) (n = 7; 10.9%). TAPVC was only present in the RAI group (31%). Incidence of mitral or tricuspid atresia was higher in the SSD group (25%). All the patients were followed up with a mean of 19.06 ± 17.6 (0.1-72) months. RESULTS: Early postoperative mortality was 17 patients, among 107 procedures (15.8%). Twelve patients were in the neonatal period. All ten patients survived after isolated ductal stenting. Fourteen of the deaths were in the RAI group (48.3%). The 3-year survival rates were 85% in LAI, 78.7% in SI, 55.8% in SSD, and 38% in RAI groups. According to the multivariable Cox regression model, mechanical ventilation, kidney injury, RAI, and complex surgery in the neonatal period were independent risk factors for early mortality. CONCLUSION: Laterality anomalies are one of the most challenging patients who commonly had univentricular physiology. The most prevalent anomaly was RAI, and RAI had the worst outcome and survival. Ductal stent is an acceptable first intervention during the neonatal period in suitable patients. Complex procedures may carry a high risk of death in the neonatal period.

Does a prenatal diagnosis affect mortality and morbidity for neonatal arterial switch operation.

BACKGROUND: The effect of prenatal diagnosis on prognosis in patients with transposition of the great arteries is not clear. In this study, we compared the outcomes after arterial switch operation. METHODS: Outcome of 112 patients who had arterial switch operation in the neonatal period were analysed. The patients were divided into two groups: those who had prenatal diagnosis (Group 1; n = 34) and those who did not (Group 2; n = 78). The patients were also classified based on their diagnosis: simple transposition, transposition with ventricular septal defect and/or aortic arch hypoplasia, and Taussig-Bing anomaly. RESULTS: In Group 1, the C-section delivery rate was higher (82% vs. 44%; p = 0.004), and it was observed that patients in Group 1 were more often intubated upon admission to the neonatal ICU (38% vs. 9%; p = 0.005). No differences were found between the two groups in terms of operation time, cardiopulmonary bypass time, post-operative invasive respiratory support duration, or extracorporeal membrane oxygenation support. It was observed that those who had Taussig-Bing anomaly had a higher mortality. CONCLUSIONS: Timely treatment have a positive effect on neonatal mortality and morbidity. That's why all families with prenatal diagnosis of critical CHD should be recommended to have the delivery in a tertiary care hospital. Although it could not be demonstrated in this study, prenatal diagnosis has a potential to improve surgical results especially in countries or cities, which does not have enough resources for transfer and surgical units. Further efforts are needed to improve prenatal screening programmes.

Using a Cardiac Event Recorder in Children with Potentially Arrhythmia-Related Symptoms.

BACKGROUND: In this study, we reported our experience with the use of cardiac event recorders in pediatric patients. METHODS: We evaluated 583 patients fitted with an event recorder (15-30 days) between March 2010 and November 2014 at our clinic. Excluded from the study were 117 patients with no recorded events and six with records contaminated by electrocardiogram artifacts. All of the patients received electrocardiograms, Holter monitoring, and echocardiography before the cardiac event recording. RESULTS: The patient sample consisted of 460 patients (64% female). The mean age was 12.8 ± 4.1 years. The median number of recorded events was 7. The indications included palpitations in 336 (73%) patients, syncope in 27 (6%) patients, and chest pain and palpitations in 97 (21%) patients. Whereas 64 patients (14%) had structural heart disease according to echocardiographic examination, the remaining patients had normal echocardiographic examination results. The most frequent cardiac comorbidities were mitral valve prolapse (6%), operated tetralogy of Fallot (1.5%), and complicated congenital heart diseases with single ventricle physiology (1%). The recorded events were sinus tachycardia in 113 (25%) patients, supraventricular tachycardia in 35 (8%) patients, ventricular extrasystole in 20 (4%) patients, supraventricular extrasystole in nine (2%) patients, and ventricular tachycardia in two (0.4%) patients. Based on the event recorder and follow-up electrocardiogram findings, 46 patients received an electrophysiology study/ablation. The symptom-rhythm correlation was 39%. CONCLUSION: In the presence of possible arrhythmia-related symptoms in children, a cardiac event recorder can be considered a useful primary diagnostic method. More research on this topic is needed.

Closure of aortopulmonary window using Nit-Occlud® PDA-R device in a 3-month-old infant.

Aortopulmonary window (APW) is a rare abnormality in which a pulmonary defect exists between the ascending aorta and the main pulmonary artery. Given that it may result in cardiac failure and pulmonary vascular disease in the early period, treatment needs to be performed without delay. In addition to surgical treatment, transcatheter closure may also be performed for selected patients. This study describes the case of an infant diagnosed with APW and who underwent successful transcatheter closure using a Nit-Occlud® PDA-R device.

Double inlet left ventricle-ventriculoarterial discordance without surgical treatment.

Univentricular heart is a rare congenital defect that consists, in nearly 80% of cases, of double inlet left ventricle, to which both atrioventricular valves connect. A 31-year-old male patient was diagnosed with single ventricle at the age of 9. He had not received any surgical intervention and was not on any medication. Functional capacity was assessed as New York Heart Association class III. Both atrioventricular valves were found to open into the morphological left ventricle, which was located on the right; the hypoplasic right ventricle was on the left side of the left ventricle, the posteriorly located aorta emerged from the right ventricle, and the anteriorly located pulmonary artery emerged from the left ventricle. There was significant subvalvular and valvular stenosis in the pulmonary valve site. The disease is complex and it is very rare that untreated patients reach adulthood.

Prolonged QT dispersion in the infants of diabetic mothers.

Myocardial hypertrophy and cardiac dysfunction frequently occur in newborns of diabetic mothers. The authors hypothesized that wall hypertrophy or disproportionate left ventricular wall thickness in newborns of diabetic mothers may affect both QT and QTc dispersion. This study aimed to assess whether left ventricular hypertrophy affects the QT variables of infants born to diabetic mothers. This prospective cross-sectional study was conducted with 47 consecutively selected neonates of gestational diabetic mothers and 30 healthy neonates born to healthy mothers. All the subjects were evaluated during the neonatal period. Electrocardiography with echocardiography was performed for the patients and the control subjects. The newborns of the diabetic mothers were classified according to septal thickness as group 1 (16 newborns with septal hypertrophy) or group 2 (31 newborns without septal hypertrophy). The study group consisted of three cohorts: groups 1, 2, and 3 (control group). Both QT and QTc dispersion were computed from a randomly selected beat as well as from an average beat derived from 12 beats included in a 10-s electrocardiography. A total of 16 infants (34%) had a septal thickness of 6 mm or greater. The left ventricular end-systolic diameter in group 1 was smaller (p = 0.0029) than in groups 2 and 3 (p = 0.003). The interventricular septal thickness at end diastole (IVSTd) and the left ventricular posterior wall thickness at end diastole in group 1 were higher than in of groups 2 and 3. The QT and QTc dispersion intervals were longer in group 1 than in groups 2 and 3 (p < 0.001), and a highly significant positive correlation was detected between IVSTd and QT dispersion (r = 0.514, p = 0.042). Elevated QT and QTc dispersions may be risk factors for the development of arrhythmias in newborns of diabetic mothers. These patients may critically need systematic cardiac screening.

Assessment of P-wave dispersion in children with atrial septal aneurysm.

BACKGROUND: This was a prospective controlled study to determine the P-wave duration and P-wave dispersion in patients with atrial septal aneurysm. METHODS: A total of 41 children with atrial septal aneurysm, including 21 boys and 20 girls (mean age 11.85 ± 3.8 years), and 32 controls, including 17 boys and 15 girls (mean age 12.3 ± 2.9 years), were included. P-wave dispersion was calculated from the 12-lead electrocardiogram. Cardiac functions, morphology of the aneurysm, and left atrial diameter were measured using conventional echocardiography. The diagnosis of atrial septal aneurysm was made when the base of the aneurysms with an excursion ratio ≥25% was found on echocardiography. RESULTS: There was no significant difference between the patient and control groups in demographic, clinical findings, and M-mode echocardiographic parameters. The P-wave dispersion in patients with atrial septal aneurysm was significantly longer compared with the control group (64.4 ± 13.4 ms; p < 0.0001). Similarly, the the maximum duration of the P wave in the patient group was significantly longer compared with the control group (106.1 ± 13.3 ms; p < 0.001). The P-wave duration and dispersion were not correlated with age, gender, systolic and diastolic blood pressure, or m-mode echocardiographic parameters. CONCLUSIONS: This study shows that P-wave dispersion is delayed in atrial septal aneurysm patients. Prolonged P-wave dispersion was determined to indicate electrical disturbance, and therefore it has an increased electrocardiographic risk of atrial arrhythmia in children with atrial septal aneurysm.

[Hypertrophic cardiomyopathy and Costello syndrome: review of recent related literature with case report]. / Hipertrofik kardiyomiyopati ve Costello sendromu: Olgu sunumu esliginde literatürün gözden geçirilmesi.

Costello syndrome is a rare syndrome characterized by failure to thrive, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis. Cardiac involvement is seen in almost two thirds of patients, and is a determinant for the prognosis of Costello syndrome. The most common cardiac anomalies are pulmonary stenosis, hypertrophic cardiomyopathy, atrial septal defect, ventricular septal defect and arrhytmia. In this report, we present a 14-month-old female pediatric patient with hypertrophic cardiomyopathy, clinically and genetically diagnosed with Costello syndrome. The report also contains a review of recent related literature.

Platelet distribution width and mean platelet volume in children with pulmonary arterial hypertension secondary to congenital heart disease with left-to-right shunt: new indices of severity?

The majority of patients with congenital heart disease (CHD), particularly those with relevant systemic-to-pulmonary shunts, if left untreated, will experience the development of pulmonary arterial hypertension (PAH). Previous studies have shown that platelet activation occurs in patients with PAH. In response, this study aimed to investigate the platelet indices, including platelet distribution width (PDW) and mean platelet volume (MPV), in patients with PAH. The study was conducted in the pediatrics cardiology unit of Selcuk University Medical Faculty between July 2010 and January 2012. The patients' clinical and laboratory data were obtained retrospectively from hospital recordings. The study enrolled 57 children with CHD (all with left-to-right shunting). The patients who had undergone diagnostic cardiac catheterization were analyzed according to the presence or absence of PAH. Group 1 had CHD with PAH, and group 2 had CHD without PAH. Compared with the group 2 patients, a significant decrease in PDW (p < 0.0001) was noted in the group 1 patients (with PAH). Likewise, a significant difference was found in the MPV of group 1 (p < 0.0001). Statistically, groups 1 and 2 did not differ in terms of platelet count (p = 0.3). Patients who had pulmonary hypertension secondary to CHD with left-to-right shunting exhibited a lower PDW and MPV.

The effect of extracorporeal membrane oxygenation on neurodevelopmental outcomes in children after repair of congenital heart disease: A pilot study from Turkey.

Background: Extracorporeal membrane oxygenation (ECMO) is widely used after congenital heart surgery. The purpose of this study is to analyze the neurodevelopmental (ND) outcomes in patients who receivedECMO support after congenital cardiac surgery. Methods: Between January 2014 and January 2021, 111 patients (5.8%) receivedECMO support after congenital heart operations, and 29 (26,1%) of these patients were discharged. Fifteen patients who met the inclusion criteria were included. A propensity score matching (PSM) analysis model was established using eight variables (age, weight, sex, Modified Aristotle Comprehensive Complexityscores, seizures, cardiopulmonary bypass duration, number of operations, and repair method) with 1:1 matching. According to the PSM model, 15 patients who underwent congenital heart operations were selected as the non-ECMO group. The Ages & Stages Questionnaire Third Edition (ASQ-3) was used for ND screening;it includes communication, physical skills (gross and fine motor), problem-solving, and personal-social skills domains. Results: There were no statistically significant differences between the patients' preoperative and postoperative characteristics. All patients were followed up for a median of 29 months (9-56 months). The ASQ-3 results revealed that communication, fine motor, and personal-social skills assessments were not statistically different between the groups. Gross motor skills (40 vs. 60), problem-solving skills (40 vs. 50), and overall scores (200 vs. 250) were better in the non-ECMO patients (P = 0.01, P = 0.03, and P = 0.03, respectively). Nine patients (%60) in the ECMO group and 3 patients (%20) in the non-ECMO group were with neurodevelopmental delay (P = 0,03). Conclusion: ND delay may occur in congenital heart surgery patients who receivedECMO support. We recommend ND screening in all patients with congenital heart disease, especially those who receivedECMO support.

Toward Routine Minimally Invasive Ventricular Septal Defect Closure Via Right Lateral Minithoracotomy.

Background: Improving the surgical results and recent advancement of transcatheter techniques for closure of ventricular septal defect (VSD) increased the demand for minimally invasive approaches. In this study, we analyzed the results of the patients who underwent VSD closure with right lateral minithoracotomy (RLMT). Methods: Between September 2014 and February 2021, 24 patients underwent minimally invasive VSD closure with RLMT. The median age of the patients was 16 months (range, 4-84 months). Fifteen patients (62.5%) were female. The median weight of the patients was 9.75 kg (range, 4.6-30 kg). The types of VSD were perimembranous in 19 patients, subaortic in three patients, inlet in one patient, and subpulmonic in one patient. Five patients had low-lying pulmonary stenosis in addition to VSD. Results: No perioperative death or major complication occurred during follow-up. All defects were repaired through RLMT. The median cardiopulmonary bypass time was 81 min (range, 44-163 min), and the aortic cross-clamp time was 65 min (range, 33-131 min). The median hospital stay was 6 days (range, 5-21 days). One patient had minimal (2 mm) residual left-to-right shunt. All families were satisfied with the cosmetic results during the follow-up. Conclusions: The RLMT method is a safe and effective alternative to standard median sternotomy for VSD closure and can be performed with favorable cosmetic and clinical results.

Implantation of cardiac defibrillator in an infant with hypertrophic cardiomyopathy and newly identified MYBP3 mutation.

Hypertrophic cardiomyopathy has the highest incidence rate among genetically inherited cardiac diseases. It develops as a result of mutations in genes in related to the sarcomere protein in cardiac muscle. Generally, this results in asymmetrical hypertrophy. Patients who are symptomatic and have a significantly narrow left ventricular undergo should receive surgical treatment, whereas patients with a sudden cardiac death risk should receive treatment with an implantable cardiac defibrillator. This paper presents an infant with hypertrophic cardiomyopathy who was recently identified as having a mutation that resulted in a deletion-insertion type framework shift in the gene MYBPC3, who had family history of sudden death at a young age, and received myectomy and treatment with an implantable cardiac defibrillator in the same session due to a severely narrowed left ventricular outflow tract.

A rare situation in acute rheumatic carditis: Involvement of all four valves.

Güvenç O, Çimen D. A rare situation in acute rheumatic carditis: Involvement of all four valves. Turk J Pediatr 2017; 59: 497-500. Acute rheumatic fever continues to be an important health problem, especially in countries that are socioeconomically underdeveloped. Carditis, which develops in approximately half of the patients, is responsible for both early-stage mortality as well as late-stage surgical treatment due to heart valve insufficiency or stenosis. The most frequent and severe valve involvement is with the mitral valve, while the aortic valve has the second highest incidence of involvement. Pulmonary and tricuspid valves are rarely involved. The literature cites a few adult cases in which all four valves are affected by rheumatic carditis; however, to the best of our knowledge, there have been no acute-stage rheumatic carditis pediatric cases reported. This article presents a 13-year-old male patient of Syrian origin who escaped to Turkey from the war in his country, and who was in the acute stage of rheumatic carditis in which all four valves were involved.

[A rare cause of cyanosis in childhood: Pulmonary arteriovenous malformation]. / Çocukluk çaginda siyanozun nadir bir sebebi: Pulmoner arteriyovenöz malformasyon.

Pulmonary arteriovenous malformation, which is defined as the presence of an ab-normal connection between the pulmonary artery and pulmonary vein, is rarely seen. Although it generally presents as a congenital condition, it may be accompanied by hereditary hemorrhagic telangiectasia. Clinical signs vary according to the amount of shunt in proportion to the number and size of the fistulae. Patients may present with cyanosis and respiratory trouble. If the disease remains untreated, it may result in cardiac failure and ineffective endocarditis, thereby leading to the rupture of the an-eurysmal fistula. Transcatheter embolization of abnormal vascular connection is the current treatment method in this disease. This article describes the case of an 8½-year-old child. He was presented with the symptom of getting tired quickly. Transcutaneous oxygen saturation of 75%, and pulmonary arteriovenous malfor-mation was detected in his examination. Successful transcatheter fistula embolization was performed.

[Co-occurrence of Carpenter syndrome and double outlet right ventricle]. / Carpenter sendromu ve çift çikisli sag ventrikül birlikteligi.

Carpenter syndrome (Acrocephalopolysyndactyly type 2, OMIM 201000) is a rarely seen autosomal recessive disorder. In addition to abnormalities such as acrocephaly, craniosynostosis, facial asymmetry, polydactyly and syndactyly, obesity, hypogonadism, mental retardation, and corneal opacity, it may frequently be accompanied by congenital heart diseases such as ventricular septal defect, patent ductus arteriosus and pulmonary stenosis. Double outlet right ventricle is a defect in which both major arteries originate in the morphological right ventricle. To the best of our knowledge, this is the first report in the literature of double outlet right ventricle disease in combination with Carpenter syndrome.