Neurological complications in children with infective endocarditis: Incidence, risk factors, and outcome: A 10-year single-center experience.

BACKGROUND AND OBJECTIVE: Despite improvement in medical management, infective endocarditis (IE) remains a serious disease that may affect children with and without preexisting cardiac conditions with significant morbidity and mortality. Neurological complications of IE represent the worst with guarded prognosis. The aim of this study is to describe the incidence, etiology, characteristics, risk factors, and outcome of children with neurological complications associated with IE. MATERIAL AND METHODS: A retrospective cohort study was conducted from 2009 to 2019 where all pediatric patients who fulfilled the modified Duke criteria for IE were included. We divided the cases into 2 groups: IE with neurological complications and IE without neurological complications control group. We compared the two groups statistically and analyzed the results. RESULTS: We identified 31 (17 male, 14 female) patients with IE. Neurological complications occurred in 7/31 (23%) patients, mainly in the form of a stroke. Gram-positive microbes were the main causative agents for IE (52%) followed by gram-negative (14%), then fungal organisms (3%). Univariate analysis identified the following risk factors for neurological complications: lower body weight, higher C- reactive protein (CRP) level, and left-sided valvular lesions with P values of (0.0003, 0.0001, and 0.04), respectively.Although mortality was higher in the neurological complications group, it was 43% in comparison to 21% in the control group and it did not reach statistical significance (P = .49). Large vegetation size (more than 10 mm) was seen in 57% of patients with neurological complications as compared to 16% in the control group (P = .052). CONCLUSION: Neurological complications occurred in almost a quarter of children with IE. Possible risk factors include lower body weight, left-sided valvular lesion, and higher levels of inflammatory markers (CRP). Stroke was the most common neurological complication encountered with possible increased risk of mortality.

Fetal aortic valvuloplasty: first report of two cases from Saudi Arabia.

BACKGROUND: Fetal aortic stenosis may progress to hypoplastic left heart syndrome (HLHS), which carries a poor prognosis. We report two infants with fetal aortic stenosis successfully treated with fetal aortic valvuloplasty (FAV) using balloon dilatation. CASE PRESENTATION: Of five fetuses with aortic stenosis fulfilling the FAV criteria of severe aortic stenosis with a left ventricular length Z-score of ≥ - 2, retrograde flow in the transverse aortic arch, left-to-right flow across the foramen ovale, monophasic mitral inflow, and significant left ventricular dysfunction, we obtained permission for FAV in two fetuses. FAV was performed successfully under echocardiographic guidance using balloon dilatation. Both fetuses survived to birth. During FAV, mild pericardial effusion developed when introducing the stylet needle in the second fetus, and this resolved within 48 h. No intraprocedural complications occurred in the first patient, and no maternal complications occurred. The first infant underwent the Ross procedure after birth and is currently 7 years old and doing well. The second patient underwent aortic and mitral valve repair with endocardial fibroelastosis resection approximately 2 weeks after birth, which temporarily addressed the mitral valve stenosis; high doses of inotropes were subsequently required. The infant died of sepsis at 2 months of age. CONCLUSION: FAV using balloon dilatation to treat fetal aortic stenosis was successful in our two patients, with subsequent neonatal biventricular repair resulting in long-term survival in one patient and death secondary to sepsis in the second patient.

Development of neoaortic pseudoaneurysm after arterial switch operation.

We report a case of a 46-day-old boy who was diagnosed with transposition of the great arteries and underwent arterial switch operation. A large neoaortic pseudoaneurysm was diagnosed on the first postoperative follow up. Successful repair of the aneurysm was done and at the 3-year follow up, the child's clinical and imaging findings remain normal.

Bilateral superior vena cava with right superior vena cava draining into left atrium.

Anomalies of systemic venous return are extremely heterogeneous congenital malformations with variable ranges from completely normal physiology to severe forms of right to left shunting requiring surgical treatment. Anomalous drainage of a right-sided superior vena cava (SVC) to the left atrium (LA) is one of the rarest variants of systemic venous return anomalies, characterized by right-to-left shunt physiology and cyanosis. Here we report a 2 years old girl presented with cyanosis which was observed shortly after birth by her parents but not further investigated. She is otherwise active girl and with normal growth and development. Her clinical examination was unremarkable apart from mild clubbing of the fingers and low oxygen saturation of 88-90% in room air. Her ECG and chest X-ray were unremarkable. Echocardiography showed bilateral SVC connected by a small innominate vein. The right SVC drains directly into the LA while the left SVC drains into the right atrium (RA) via a dilated coronary sinus. There is a small superior sinus venosus type atrial septum defect (ASD) with left to right shunt. Also, there is partial anomalous pulmonary venous return with right upper and right middle pulmonary veins draining directly into the right SVC, which is connected to LA. The right lower pulmonary vein and left pulmonary veins drain directly to LA. The rest of her echocardiography demonstrated normal heart structures and function. This patient was referred for surgical correction, including baffling of the right SVC to the RA and closure of the ASD. We describe this case to highlight the importance of recognizing this rare anomalous systemic venous connection as one of the very rare causes of cyanosis in the pediatric age group as well as at older age.

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.

BACKGROUND: Truncus arteriosus (TA) is characterised by failure of septation of the outflow tract into aortic and pulmonary trunks and is associated with high morbidity and mortality. Although ranked among the least common congenital heart defects, TA provides an excellent model for the role of individual genes in cardiac morphogenesis as exemplified by TBX1 deficiency caused by point mutations or, more commonly, hemizygosity as part of the 22q11.2 deletion syndrome. The latter genetic lesion, however, is only observed in a proportion of patients with TA, which suggests the presence of additional disease genes. OBJECTIVE: To identify novel genes that cause Mendelian forms of TA. METHODS AND RESULTS: We exploited the occurrence of monogenic forms of TA in the Saudi population, which is characterised by high consanguinity, a feature conducive to the occurrence of Mendelian phenocopies of complex phenotypes as we and others have shown. Indeed, we demonstrate in two multiplex consanguineous families that we are able to map TA to regions of autozygosity in which whole-exome sequencing revealed homozygous truncating mutations in PRKD1 (encoding a kinase derepressor of MAF2) and NRP1 (encoding a coreceptor of vascular endothelial growth factor (VEGFA)). Previous work has demonstrated that Prkd1(-/-) is embryonic lethal and that its tissue-specific deletion results in abnormal heart remodelling, whereas Nrp1(-/-) develops TA. Surprisingly, molecular karyotyping to exclude 22q11.2 deletion syndrome in the replication cohort of 17 simplex TA cases revealed a de novo hemizygous deletion that encompasses PRDM1, deficiency of which also results in TA phenotype in mouse. CONCLUSIONS: Our results expand the repertoire of molecular lesions in chromatin remodelling and transcription factors that are implicated in the pathogenesis of congenital heart disease in humans and attest to the power of monogenic forms of congenital heart diseases as a complementary approach to dissect the genetics of these complex phenotypes.

Two-dimensional echocardiographic predictors of coarctation of the aorta.

BACKGROUND: Coarctation of the aorta is a very common congenital heart malformation. It is frequently associated with other abnormalities. Echocardiography is the diagnostic modality for congenital heart disease. The carotid-subclavian artery index and the isthmus/descending aorta index were proposed for establishing the diagnosis of coarctation of the aorta. OBJECTIVES: The objectives were to evaluate such indexes and to look for other echocardiographic predictors of coarctation of the aorta. METHOD: Echocardiography was reviewed for infants with coarctation of the aorta, as well as a control group, using the Echo PAC Dimension. Standard measurements were obtained from different sites of the aortic arch. RESULTS: A total of 31 infants 3 months or less with coarctation of the aorta and 50 infants with no coarctation of the aorta were reviewed. Abnormal aortic valve was present in 65% of those with coarctation of the aorta. The diameters of the proximal and the distal transverse aortic arch were smaller in the coarctation of the aorta group. The distance between the aortic arch branches was longer in the coarctation of the aorta group. Apart from the ratio between distance 2 and the ascending aorta, other ratios/indexes were smaller in the coarctation of the aorta group than in the control group. CONCLUSION: The presence of abnormal aortic valve, a carotid subclavian index <1.1, I/AAo ratio <0.53, and DTA/AAo ratio <0.6 suggest the presence of coarctation of the aorta. Neonates with large patent ductus arteriosus and any of these findings need close observation until the patent ductus arteriosus closes. If the arch is difficult to assess by two-dimensional echocardiography, the patient may need further imaging to rule out coarctation of the aorta.

Repair of congenital heart disease with associated pulmonary hypertension in children: what are the minimal investigative procedures? Consensus statement from the Congenital Heart Disease and Pediatric Task Forces, Pulmonary Vascular Research Institute (PVRI).

Standardization of the diagnostic routine for children with congenital heart disease associated with pulmonary arterial hypertension (PAH-CHD) is crucial, in particular since inappropriate assignment to repair of the cardiac lesions (e.g., surgical repair in patients with elevated pulmonary vascular resistance) may be detrimental and associated with poor outcomes. Thus, members of the Congenital Heart Disease and Pediatric Task Forces of the Pulmonary Vascular Research Institute decided to conduct a survey aimed at collecting expert opinion from different institutions in several countries, covering many aspects of the management of PAH-CHD, from clinical recognition to noninvasive and invasive diagnostic procedures and immediate postoperative support. In privileged communities, the vast majority of children with congenital cardiac shunts are now treated early in life, on the basis of noninvasive diagnostic evaluation, and have an uneventful postoperative course, with no residual PAH. However, a small percentage of patients (older at presentation, with extracardiac syndromes or absence of clinical features of increased pulmonary blood flow, thus suggesting elevated pulmonary vascular resistance) remain at a higher risk of complications and unfavorable outcomes. These patients need a more sophisticated diagnostic approach, including invasive procedures. The authors emphasize that decision making regarding operability is based not only on cardiac catheterization data but also on the complete diagnostic picture, which includes the clinical history, physical examination, and all aspects of noninvasive evaluation.

Closure of a large perimembranous ventricular septal defect in a 4.8 kg baby with Down syndrome using a duct occluder.

A 9.5-month-old boy with Down syndrome, weighing 4.8 kg, presented with history of failure to thrive. Clinically, he had symptoms and signs of congestive heart failure. His echocardiogram showed a large perimembranous ventricular septal defect (pmVSD) with some inlet extension covered by a large aneurysmal tissue with multiple right ventricular (RV) exits. Additionally, he had hypothyroidism and Hirschsprung disease. Instead of closing the VSD surgically, the VSD was successfully closed utilizing an 8 × 6 mm duct occluder. The baby remained in the intensive care unit for one night. The day after the procedure, the infant was stable and showed clinical improvement. Electrocardiogram (ECG) showed normal sinus rhythm with no evidence of heart block. Twenty-four hours later, echocardiography showed the device was in an excellent position, with a small residual leak. There was normal tricuspid valve inflow and normal aortic valve outflow with no significant valvar insufficiency. The baby was discharged after 3 days in stable condition. We believe infants with such co-morbidities which might complicate their post-operative course and prolong the intensive care unit admission, might benefit from such alternative management.

Repair of congenital heart disease with associated pulmonaryhypertension in children: what are the minimal investigativeprocedures? Consensus statement from the Congenital HeartDisease and Pediatric Task Forces, Pulmonary VascularResearch Institute (PVRI)

Standardization of the diagnostic routine for children with congenital heart disease associatedwith pulmonary arterial hypertension (PAH-CHD) is crucial, in particular since inappropriate assignmentto repair of the cardiac lesions (e.g., surgical repair in patients with elevated pulmonary vascular resistance)may be detrimental and associated with poor outcomes. Thus, members of the Congenital HeartDisease and Pediatric Task Forces of the Pulmonary Vascular Research Institute decided to conduct asurvey aimed at collecting expert opinion from different institutions in several countries, covering manyaspects of the management of PAH-CHD, from clinical recognition to noninvasive and invasive diagnosticprocedures and immediate postoperative support. In privileged communities, the vast majority of childrenwith congenital cardiac shunts are now treated early in life, on the basis of noninvasive diagnostic evaluation,and have an uneventful postoperative course, with no residual PAH. However, a small percentageof patients (older at presentation, with extracardiac syndromes or absence of clinical features of increasedpulmonary blood flow, thus suggesting elevated pulmonary vascular resistance) remain at a higher risk ofcomplications and unfavorable outcomes. These patients need a more sophisticated diagnostic approach,including invasive procedures. The authors emphasize that decision making regarding operability is basednot only on cardiac catheterization data but also on the complete diagnostic picture, which includes theclinical history, physical examination, and all aspects of noninvasive evaluation.

Persistent fifth aortic arch diagnosed by echocardiography and confirmed by angiography: Case report and literature review.

Persistent fifth aortic arch is a rare congenital anomaly that can be discovered incidentally or at postmortem exam. It can be associated with major congenital heart malformations involving the systemic or the pulmonary circuits. It usually has no clinical significance but can be either, beneficial as in systemic outflow tract obstructions or cause hemodynamic compromise when associated with a significant left to right shunt. We report an infant with persistent fifth aortic arch associated with Shone's complex diagnosed accurately by transthoracic echocardiography and confirmed by cardiac catheterization and computed tomography.

Hemodynamic evaluation of the peripheral pulmonary circulation by cine phase-contrast magnetic resonance imaging.

PURPOSE: To describe the normal flow patterns in peripheral pulmonary vessels with phase-contrast (PC) magnetic resonance imaging (MRI). MATERIALS AND METHODS: Twelve healthy adults (age = 33 +/- 7 years) underwent cine PC MRI of the segmental and central pulmonary arteries and veins by means of a breath-held segmented k-space technique. Flow patterns were analyzed on time-velocity curves and compared between the peripheral and central vessels. RESULTS: The pulsatile flow patterns in the segmental arteries and veins were similar among individuals. When compared with the central pulmonary arteries, the segmental arteries had a delay in the systolic and diastolic flow velocity waves, and an increased magnitude of the diastolic peaks, in relation to the systolic peaks. A prominent notch was present during the deceleration phase of the systolic flow velocity wave in 79% of the segmental arteries investigated. The segmental veins showed a typical pulmonary venous flow pattern, as seen in the central veins, with similar systolic-to-diastolic peak velocity ratios. CONCLUSION: Noninvasive evaluation of blood flow in intraparenchymal pulmonary vessels is feasible with PC MRI. This first description of normal flow patterns in segmental pulmonary arteries and veins can serve as basis for further investigation in the setting of altered pulmonary blood flows.