Evaluation of hard palate and cleft morphology in neonates with Pierre Robin Sequence and Cleft Palate Only.

OBJECTIVES: This study aimed to establish a fully digital measurement protocol for standardizing the description of hard palate and cleft morphology in neonates with an isolated cleft palate (CPO) and Pierre Robin sequence (PRS). MATERIALS AND METHODS: A total of 20 digitized plaster models of neonates with CPO and 20 digitized plaster models of neonates with PRS were retrospectively investigated. For the control group, the hard palate was segmented from 21 pre-existing 1.5 T MRI datasets of neonates and exported as an STL file. The digital models were marked with predefined reference points by three raters. Distance, angular, and area measurements were performed using Blender and MeshLab. RESULTS: Neonates with CPO (20.20 ± 2.33 mm) and PRS (21.41 ± 1.81 mm) had a significantly shorter hard palate than the control group (23.44 ± 2.24 mm) (CPO vs. control: P < .001; PRS vs. control: P = .014). Notably, neonates with PRS (33.05 ± 1.95 mm) demonstrated a significantly wider intertuberosity distance than those with CPO (30.52 ± 2.28 mm) (P = .012). Furthermore, there were also significant differences measured between the cleft and control groups (25.22 ± 2.50 mm) (P < .001). CONCLUSIONS: The data from this study demonstrate the feasibility of using MRI datasets to generate digital models of the hard palate. The presence of a cleft palate leads to pronounced adaptations of the total palatal surface area, dorsal width, and length of the hard palate. Mandibular retrognathia and altered tongue position in PRS, as opposed to CPO, might further impact palatal morphology and intertuberosity distance.

Comparative Study of 2D-Cine and 3D-wh Volumetry: Revealing Systemic Error of 2D-Cine Volumetry.

This study investigates the crucial factors influencing the end-systolic and end-diastolic volumes in MRI volumetry and their direct effects on the derived functional parameters. Through the simultaneous acquisition of 2D-cine and 3D whole-heart slices in end-diastole and end-systole, we present a novel direct comparison of the volumetric measurements from both methods. A prospective study was conducted with 18 healthy participants. Both 2D-cine and 3D whole-heart sequences were obtained. Despite the differences in the creation of 3D volumes and trigger points, the impact on the LV volume was minimal (134.9 mL ± 16.9 mL vs. 136.6 mL ± 16.6 mL, p < 0.01 for end-diastole; 50.6 mL ± 11.0 mL vs. 51.6 mL ± 11.2 mL, p = 0.03 for end-systole). In our healthy patient cohort, a systematic underestimation of the end-systolic volume resulted in a significant overestimation of the SV (5.6 mL ± 2.6 mL, p < 0.01). The functional calculations from the 3D whole-heart method proved to be highly accurate and correlated well with function measurements from the phase-contrast sequences. Our study is the first to demonstrate the superiority of 3D whole-heart volumetry over 2D-cine volumetry and sheds light on the systematic error inherent in 2D-cine measurements.

The Prevalence of and Predisposing Factors for Late Atrial Arrhythmias after Transcatheter Closure of Secundum Atrial Septal Defects in Children.

BACKGROUND: A 24 h Holter study in children after transcatheter secundum ASD (ASD II) closure was conducted to detect the prevalence of defects and/or device-related late atrial arrhythmias (LAAs). ASD II closure with an Amplatzer septal occluder (ASO) is an established procedure. Little is known about LAAs after device implantation. METHODS: The eligible participants were children who had undergone ASO implantation, with a follow-up of ≥5 years, as well as one pre- and at least one post-procedural Holter ECG. RESULTS: In total, 161 patients (mean age: 6.2 ± 4.3 years), with a mean follow-up of 12.9 ± 3.1 years (range 5-19), were included. A median of four Holter ECGs per patient were available. LAAs occurred before intervention in four patients (2.5%), and it was peri-interventional in four patients (2.5%), sustained in three patients (1.9%), and developed in three patients (1.9%). In patients with pre- and peri-interventional LAAs, the Qp/Qs ratio was higher (6.4 ± 3.9 vs. non-AA: 2.0 ± 1.1 (p = 0.002)) and the IAS/ASO ratio was lower (1.18 ± 0.27 vs. non-AA: 1.7 ± 0.4 (p < 0.001)). The patients with LAAs differed from those without LAAs in their Qp/Qs (6.8 ± 3.5 vs. 2.0 ± 1.3; p < 0.0001) and IAS/ASO ratios (1.14 ± 0.19 vs. 1.73 ± 0.45; p < 0.001). The patients with LAAs had a Qp/Qs ratio ≥2.94:1, and those who developed LAAs had an IAS/ASO ratio <1.15. CONCLUSIONS: LAAs occurred in 1.9% of patients and were sustained in another 1.9% of patients but persisted in those with large shunt defects and large occluders in relation to the atrial septal length. The predisposing factors for LAAs after ASD closure were a high Qp/Qs ratio, pre-existing atrial arrhythmias, and a low IAS/ASO ratio.

Impact of premature birth on cardiopulmonary function in later life.

Pulmonary function is reduced in children after preterm birth. The variety of subgroups ranges from early to late preterm births. Limitations in pulmonary function can be observed even after late preterm birth without signs of bronchopulmonary dysplasia and/or history of mechanical ventilation. Whether this reduction in lung function is reflected in the cardiopulmonary capacity of these children is unclear. This study aims to investigate the impact of moderate to late premature birth on cardiopulmonary function. Cardiopulmonary exercise testing on a treadmill was performed by 33 former preterm infants between 8 and 10 years of age who were born between 32 + 0 and 36 + 6 weeks of gestation and compared with a control group of 19 children born in term of comparable age and sex. The former preterm children achieved comparable results to the term-born controls with respect to most of the cardiopulmonary exercise parameters [Formula: see text]. The only differences were in a slightly higher oxygen uptake efficiency slope [Formula: see text] and higher peak minute ventilation [Formula: see text] in the group of children born preterm. With respect to heart rate recovery [Formula: see text] and breathing efficiency [Formula: see text], there were no significant differences. CONCLUSION:  Children born preterm did not show limitations in cardiopulmonary function in comparison with matched controls. WHAT IS KNOWN: • Preterm birth is associated with reduced pulmonary function in later life, this is also true for former late preterms. • As a consequence of being born premature, the lungs have not finished their important embryological development. Cardiopulmonary fitness is an important parameter for overall mortality and morbidity in children and adults and a good pulmonary function is therefore paramount. WHAT IS NEW: • Children born prematurely were comparable to an age- and sex-matched control group with regards to almost all cardiopulmonary exercise variables. • A significantly higher OUES, a surrogate parameter for VO2peak was found for the group of former preterm children, most likely reflecting on more physical exercise in this group. Importantly, there were no signs of impaired cardiopulmonary function in the group of former preterm children.

Evaluating Cardiac Lateralization by MRI to Simplify Estimation of Cardiopulmonary Impairment in Pectus Excavatum.

BACKGROUND: The severity of pectus excavatum is classified by the Haller Index (HI) and/or Correction Index (CI). These indices measure only the depth of the defect and, therefore, impede a precise estimation of the actual cardiopulmonary impairment. We aimed to evaluate the MRI-derived cardiac lateralization to improve the estimation of cardiopulmonary impairment in Pectus excavatum in connection with the Haller and Correction Indices. METHODS: This retrospective cohort study included a total of 113 patients (mean age = 19.03 ± 7.8) with pectus excavatum, whose diagnosis was verified on cross-sectional MRI images using the HI and CI. For the development of an improved HI and CI index, the patients underwent cardiopulmonary exercise testing to assess the influence of the right ventricle's position on cardiopulmonary impairment. The indexed lateral position of the pulmonary valve was utilized as a surrogate parameter for right ventricle localization. RESULTS: In patients with PE, the heart's lateralization significantly correlated with the severity of pectus excavatum (p ≤ 0.001). When modifying HI and CI for the individual's pulmonary valve position, those indices are present with greater sensitivity and specificity regarding the maximum oxygen-pulse as a pathophysiological correlate of reduced cardiac function (χ2 10.986 and 15.862, respectively). CONCLUSION: The indexed lateral deviation of the pulmonary valve seems to be a valuable cofactor for HI and CI, allowing for an improved description of cardiopulmonary impairment in PE patients.

Impact of Pectus Excavatum on Cardiopulmonary Function.

BACKGROUND: Pectus excavatum is classified using the Haller Index (HI) or the Correction Index. However, no correlation between the HI and CI and cardiopulmonary impairment has been described in detail. METHODS: This prospective cohort study included 99 otherwise healthy patients with pectus excavatum who underwent cardiopulmonary exercise testing and magnetic resonance imaging at inspiration and expiration to correlate cardiopulmonary function with the grade of thoracic dysmorphia. RESULTS: Probands with an HI exceeding 3.25 had first an increase in heart rate at anaerobic threshold (from 148.0 ± 16.0 beats/min to 155.9 ± 15.0 beats/min, p = 0.036), with an HI of more than 3.6 a reduction in oxygen pulse at anaerobic threshold (from 10.7 ± 2.6 mL/beat to 9.3 ± 2.9 mL/beat, p = 0.017), with an HI exceeding 3.8 a reduction of maximum oxygen pulse (from 13.9 ± 3.4 mL/beat to 11.9 ± 3.7 mL/beat, p = 0.010), and with an HI of exceeding 4.0 a decline in maximum oxygen uptake (from 43.7 ± 6.5 mL · kg-1 · min-1 to 40.4 ± 7.4 mL · kg-1 · min-1, p = 0.025). The CI of more 27% reflects cardiopulmonary changes earlier than the corresponding HI exceeding 3.25 (p = 0.01 for maximum oxygen pulse; p = 0.017 for oxygen pulse at anaerobic threshold; p = 0.015 for heart rate at anaerobic threshold). CONCLUSIONS: The inspiratory HI and CI reflect the effect of pectus excavatum on cardiopulmonary function. The cardiopulmonary system reacts first with an increase in heart rate at anaerobic threshold, followed by a decrease in stroke volume at anaerobic threshold and maximum stroke volume. Increased severity of the deformity then leads to a decrease in cardiac output.

Differences in myocardial strain between pectus excavatum patients and healthy subjects assessed by cardiac MRI: a pilot study.

OBJECTIVES: To evaluate differences in myocardial strain between pectus excavatum (PE) patients and healthy subjects (HS) assessed by cardiac MRI using the feature-tracking algorithm. METHODS: Cardiac MRI was performed in 14 PE patients and 14 HS (9:5 male to female in each group; age 11-30 years) using a 3T scanner. Post-examination analysis included manual biventricular contouring with volumetry and ejection fraction measurement by two independent radiologists. Dedicated software was used for automated strain assessment. RESULTS: In five of the PE patients, the right ventricular ejection fraction was slightly impaired (40-44 %). PE patients had a significantly higher left ventricular longitudinal strain (P=0.004), mid (P=0.035) and apical (P=0.001) circumferential strain as well as apical circumferential strain rate (P=0.001), mid right ventricular circumferential strain (P=0.008) and strain rate (P=0.035), and apical right ventricular circumferential strain (P=0.012) and strain rate (P=0.044) than HS. The right ventricular longitudinal strain and strain rate did not differ significantly between PE patients and HS. CONCLUSIONS: Myocardial strain differs significantly between PE patients and HS. Higher myocardial strain in the mid and apical ventricles of PE patients indicates a compensation mechanism to enhance ventricular output against basal sternal compression. KEY POINTS: • The right ventricle is frequently affected by the pectus excavatum deformity. • Cardiac MRI revealed differences in myocardial strain in pectus excavatum patients. • Pectus excavatum patients exhibited higher strain in the mid/apical ventricles. • A compensation mechanism to enhance ventricular output against sternal compression is possible.

Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses.

Several different lysosomal storage diseases, mainly mucopolysaccharidosis (MPS) type I, II, and VI, are complicated by severe obstruction of the upper airways, tracheobronchial malacia, and/or stenosis of the lower airways. Although enzyme replacement therapies (ERTs) are available, the impact of these on tracheobronchial alterations has not been reported. By extending the life expectancy of MPS patients with ERTs, airway problems may become more prevalent at advanced ages. These airway abnormalities can result in severe, potentially fatal, difficulties during anesthetic procedures. Usually, upper airway obstruction is treated by tracheostomy. However, with lower airway malacia and/or stenosis, there are no procedures available to date to address these difficulties. We report the first cases using a new technique of tracheal stenting in patients with MPS type VI (Maroteaux-Lamy syndrome) and type II (Hunter syndrome) who had almost complete tracheal occlusion and total airway collapse. An updated literature review is also reported.

Multicenter midterm follow-up results using the gore septal occluder for atrial septal defect closure in pediatric patients.

OBJECTIVES: To assess the safety and efficacy of the Gore Septal Occluder (GSO) used for device-closure of significant secundum-type atrial septal defects (ASD II) focusing on pediatric patients. BACKGROUND: The GSO is a patch-like double disc device. Due to its design, it is assumed to be safe, even when implanted in ASDs with deficient retro-aortic rims. METHODS: Multicenter retrospective analysis of consecutive children and adolescents with a GSO in situ for at least 12 months according to a 1- to 4-year midterm follow-up. RESULTS: Hundred and seventy three pediatric patients were enrolled. At implantation, median age was 6 years (range 0.7-17.9), median body weight and length were 21 kg (6.4-95) and 119 cm (65-193). Median follow-up period was 20 months (range 12-51). ASD anatomy was comprised of single defects in 131 patients (76%), multi-fenestrated defects in 42 (24%), and deficient retro-aortic rims in 33 (19%). Follow-up confirmed an overall closure-rate of 95.4%. Small residual shunts were reported in eight patients (4.6%) without need for any re-intervention. Complications were classified as minor events both during the initial procedure (9 patients, 5.2%) and on follow-up (another 9 patients), including transient AV block II in three patients (1.8%) and four snare-retrievals (2.4%) during the initial procedure. CONCLUSIONS: Periprocedural and midterm follow-up data have shown the GSO to be effective and safe for ASD device closure in children and adolescents. GSO may be considered the first-choice device in deficient retro-aortic rims and multi-fenestrated defects, when covering most of the atrial septum is necessary. © 2016 Wiley Periodicals, Inc.

Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome).

BACKGROUND: Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical interventions. It is well known that patients with MPS IVA suffer from tachycardia, but cardiac and hemodynamic alterations have not been reported to date. We investigated the cardiovascular and hemodynamic alterations in patients with MPS IVA and developed a possible patho-mechanism for cardiovascular deterioration during anesthesia. MATERIAL AND METHODS: In this observational study, serial cardiac examinations were performed in 54 patients with MPS IVA who were followed at the Children's Hospital of the Mainz Medical University (Mainz, Germany) between 1991 and 2014 (follow-up 1-24 years; median 5.8 years). Results were compared with data from a large central European cohort of more than 2000 healthy infants and children. RESULTS: None of the patients had arterial hypertension, but 4% had evidence of increased pulmonary artery pressure. Patients developed aortic root extension up to 6.9 standard deviations above normal. Left-sided valve leaflet thickening occurred in 26 patients (five with valve disease). Patients had lower left ventricular dimensions (z: -1.02±0.1), lower stroke volumes (z: -2.3±0.17), lower left ventricular mass (z: -1.5±0.21), but higher wall thickness (z: +0.8±0.16), and higher work index (z: +2.5±0.2) compared to healthy control subjects. Cardiac output was preserved by an increase in heart rate of 21%. Sixty % of patients showed impaired diastolic filling; heart rate (99.0±1.8 vs. 92.0±2.1 bpm), age (18.0±1.8 vs. 14.2±1 years), and cardiothoracic ratio (61.6±3.6% vs. 55±4.2%) of these patients were higher compared to those with normal filling. CONCLUSIONS: The results of this study suggest an age-progressive disproportion of the intra-thoracic organs of patients with MPS IVA, which is accompanied by aortic root extension and thickened left ventricles, with reduced stroke volumes, impaired diastolic filling patterns, and increased heart rates.

Transcatheter Closure of Atrial Septal Defects using the GORE(®) Septal Occluder in Children Less Than 10 kg of Body Weight.

The GORE(®) Septal Occluder (GSO) is a well-evaluated device for interventional ASD closure with closure rates comparable to the Amplatzer(®) Septal Occluder (ASO), but there are no published reports of its use in small children weighing less than 10 kg. This may be due to the necessity of a large-sized introducing sheath of at least 10 Fr and therefore the assumed risk of complications in vascular access. The GSO is an alternative option for interventional ASD closure in children weighing less than 10 kg. Fourteen infants and children with a median body weight 8900 g (range 6350-9650 g) underwent successful ASD closure using the GSO. The closure was performed under fluoroscopic and transthoracic echocardiographic guidance. Postprocedure, the vessels passed by the occluder and delivery catheter were examined by duplex sonography. The median ASD diameter was 11 mm (5-17 mm), and the median GSO size was 22.5 mm (15-30 mm), whereas the median ASO left disc size that would have been recommended was 25 mm (17-31 mm). All ASDs were successfully closed. During a median follow-up of 1.57 years (range 0.5-4.2), no complications like erosion, embolization, arrhythmias, or vascular injuries occurred. Although using a 10-Fr introducer sheath, no vascular complications were detected. Our data suggest that the small usable size as well as the soft and flexible design of the device allows successful use of the GSO in young children.