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Infiltration of the stomach wall by air, first described by Fraenkel in 1889 [3], is a very rare condition. We describe the first reported case of gastric pneumatosis occurring in a child with complex congenital heart disease after cardiac surgery. [ABSTRACT FROM AUTHOR]

Introduction: In this study, we aimed to explore whether a Y chromosome microdeletion (YCM) confers adverse effects on surgical sperm retrieval potential and intracytoplasmic sperm injection (ICSI) outcomes in men with azoospermia and severe oligospermia., Methods: This was a retrospective cohort study, which included infertile men with azoospermia or severe oligospermia who were evaluated for karyotype analysis and YCM testing at a university-affiliated hospital between 2010 and 2022. Outcomes of microdissection testicular sperm extraction (mTESE) for surgical sperm retrieval were compared between men diagnosed with YCM and the control group in which no YCM were found. Additionally, patients from each group who underwent in-vitro fertilization (IVF) - ICSI cycle using ejaculated sperm or surgically retrieved mature spermatozoa were compared regarding their IVF-ICSI cycle outcomes - fertilization rates, cleavage, and blastocyst formation and clinical pregnancy rates., Results: A total of 116 azoospermic and oligospermic men who underwent Y chromosome microdeletion testing were included in the study: 19 men with YCM and 97 controls without YCM. Overall, nine mTESE procedures were performed for patients with YCM and 38 mTESE procedures were done on men from the control group. There were no significant differences between the YCM and control groups in mature sperm retrieval rates (11.1% vs. 26.3% p=0.663), though a trend towards higher rates of findings of elongated and round spermatids as the most mature germ cell was noted in the YCM group (66.7% vs. 28.9%, p=0.054). Out of the 13 men with mature sperm - either ejaculated or surgically retrieved (mTESE) - that had known ICSI cycle outcomes, three men had proven YCMs and 10 controls had no identified YCMs. Basic characteristics were similar between the groups, except for testosterone levels, which were higher in the YCM group (23.0±13.1 vs. 9.4±6.4 nmol/L, p=0.027). Fertilization rates and cleavage rates were similar between the YCM and control groups (42.3% vs. 49.7% and 42.3% vs. 39.3%, p=0.491 and 0.774, respectively). Blastocyst formation rates, and pregnancy rates, while not statistically significant, showed a trend for favorable outcomes in the control group compared to the YCM group (24.1% vs. 7.7%, 72.7% vs. 20.0%, p=0.078 and 0.106, respectively)., Conclusions: Y chromosome microdeletion does not affect sperm retrieval rates. Fertilization and cleavage rates are not impaired by microdeletions, while blastocyst formation rates and clinical pregnancy rates per embryo transfer follow a non-significant trend for unfavorable outcomes in the YCM group. Clinical and embryonic development results should be interpreted with caution, as these groups are relatively small.

Background: A Pediatric Heart Network trial compared outcomes in infants with single right ventricle anomalies undergoing Norwood procedures randomized to modified Blalock-Taussig shunt (MBTS) or right ventricle-to-pulmonary artery shunt (RVPAS). Doppler patterns in the neo-aorta and RVPAS may characterize physiologic changes after staged palliations that affect outcomes and right ventricular (RV) function., Methods: Neo-aortic cardiac index (CI), retrograde fraction (RF) in the descending aorta and RVPAS conduit, RVPAS/neo-aortic systolic ejection time ratio, and systolic/diastolic (S/D) ratio were measured early after Norwood, before stage II palliation, and at 14 months. These parameters were compared with transplantation-free survival, length of hospital stay, and RV functional indices., Results: In 529 subjects (mean follow-up period, 3.0 ± 2.1 years), neo-aortic CI and descending aortic RF were significantly higher in the MBTS cohort after Norwood. The RVPAS RF averaged <25% at both interstage intervals. Higher pre-stage II descending aortic RF was correlated with lower RV ejection fraction (R = -0.24; P = .032) at 14 months for the MBTS cohort. Higher post-Norwood CI (5.6 vs 4.4 L/min/m(2), P = .04) and lower S/D ratio (1.40 vs 1.68, P = .01) were correlated with better interstage transplantation-free survival for the RVPAS cohort. No other Doppler flow patterns were correlated with outcomes., Conclusions: After the Norwood procedure, infants tolerated significant descending aortic RF (MBTS) and conduit RF (RVPAS), with little correlation with clinical outcomes or RV function. Neo-aortic CI, ejection time, and S/D ratios also had limited correlations with outcomes or RV function, but higher post-Norwood neo-aortic CI and lower S/D ratio were correlated with better interstage survival in those with RVPAS., (Copyright © 2013 American Society of Echocardiography. Published by Mosby, Inc. All rights reserved.)

Cardiovascular abnormalities are important features of Costello syndrome and other Ras/MAPK pathway syndromes ("RASopathies"). We conducted clinical, pathological and molecular analyses of 146 patients with an HRAS mutation including 61 enrolled in an ongoing longitudinal study and 85 from the literature. In our study, the most common (84%) HRAS mutation was p.G12S. A congenital heart defect (CHD) was present in 27 of 61 patients (44%), usually non-progressive valvar pulmonary stenosis. Hypertrophic cardiomyopathy (HCM), typically subaortic septal hypertrophy, was noted in 37 (61%), and 5 also had a CHD (14% of those with HCM). HCM was chronic or progressive in 14 (37%), stabilized in 10 (27%), and resolved in 5 (15%) patients with HCM; follow-up data was not available in 8 (22%). Atrial tachycardia occurred in 29 (48%). Valvar pulmonary stenosis rarely progressed and atrial septal defect was uncommon. Among those with HCM, the likelihood of progressing or remaining stable was similar (37%, 41% respectively). The observation of myocardial fiber disarray in 7 of 10 (70%) genotyped specimens with Costello syndrome is consistent with sarcomeric dysfunction. Multifocal atrial tachycardia may be distinctive for Costello syndrome. Potentially serious atrial tachycardia may present in the fetus, and may continue or worsen in about one-fourth of those with arrhythmia, but is generally self-limited in the remaining three-fourths of patients. Physicians should be aware of the potential for rapid development of severe HCM in infants with Costello syndrome, and the need for cardiovascular surveillance into adulthood as the natural history continues to be delineated., (Copyright © 2011 Wiley-Liss, Inc.)

Objective: The objective of the study was to characterize the clinical profiles of pediatric patients with acute myocarditis and dilated cardiomyopathy (DCM) before diagnosis., Methods: A retrospective cross-sectional study was conducted to identify patients with myocarditis and DCM who presented over a 10-year span at 2 tertiary care pediatric hospitals. Patients were identified based on the International Classification of Diseases, Ninth Revision, diagnostic codes., Results: A total of 693 charts were reviewed. Sixty-two patients were enrolled in the study. Twenty-four (39%) patients had a final diagnosis of myocarditis, and 38 (61%) had DCM. Of the 62 patients initially evaluated, 10 were diagnosed with myocarditis or DCM immediately, leaving 52 patients who required subsequent evaluation before a diagnosis was determined. Study patients had a mean age of 3.5 years, 47% were male, and 53% were female. Common primary complaints were shortness of breath, vomiting, poor feeding, upper respiratory infection (URI), and fever. Common examination findings were tachypnea, hepatomegaly, respiratory distress, fever, and abnormal lung examination result. Sixty-three percent had cardiomegaly on chest x-ray, and all had an abnormal electrocardiogram results., Conclusions: These data suggest children with acute myocarditis and DCM most commonly present with difficulty breathing. Myocarditis and DCM may mimic other respiratory or viral illnesses, but hepatomegaly or the finding of cardiomegaly and an abnormal electrocardiogram result may help distinguish these diagnoses from other more common pediatric illnesses.

Hypoplastic left heart syndrome (HLHS) was once a uniformly fatal disease, accounting the majority of neonatal deaths due to congenital heart defects. Twenty-five years of advances in the surgical and medical management of this disease have resulted in dramatic improvements in survival for these children. The goal for patients with HLHS should be survival of near 100% with a good quality of life. The advances described in this manuscript detail some of the new techniques used in the surgical and medical management. For infants undergoing staged reconstruction, the Norwood procedure is performed in the newborn period, followed by a hemi-Fontan operation at 6 months of age, and a modified Fontan operation at 1 to 2 years of age. A significant recent modification of the Norwood procedure is the placement of a right ventricle to pulmonary artery (RV-PA) conduit instead of a systemic artery to pulmonary shunt (modified Blalock-Taussig or BT shunt) as the source of pulmonary blood flow. Our recent experience with this modification demonstrated an incremental increase in survival, improved postoperative stability, and decreased inter-stage mortality. At catheterization, significant differences in hemodynamic parameters were present that were consistent with improved coronary blood flow, decreased volume load to the single right ventricle, and improved pulmonary artery growth in those patients with the RV-PA conduit. The 3rd stage in the surgical treatment of HLHS is the modified Fontan operation or cavo-pulmonary anastamosis. A new approach for Fontan completion is the placement of a stent covered with a thin layer of Goretex from the inferior vena cava to the hemi-Fontan baffle. This can be performed in the catheterization laboratory, with a decrease in post-procedure pleural effusions, lower mortality, and a shorter length of stay. The future of treatment for HLHS may eventually involve a single open-heart procedure with initial and final interventions being performed in the catheterization laboratory. Some cardiac centers perform transplantation for management of HLHS. Survival following transplantation has improved as advances in the pre- and post-operative management continue, along with new options for immunosuppression. Treatment for HLHS continues to evolve, as ongoing work has resulted in improved short and long-term survival. The future for children with this disease is encouraging as evidenced by the remarkable achievements made to date and the current worldwide interest and study of HLHS.

Health outcomes are determined by case severity, physician decisions, and patient variables. In a population-based study between 1981 and 1989, 103 cases of infant coarctation of the aorta were diagnosed before one year of age. The goal of this study was to determine whether patient race, gender, income, and insurance status had effects on outcome of coarctation of the aorta that were distinct from the effect of case severity. Survival of infants with coarctation of the aorta, a common congenital cardiovascular malformation, is associated with greater maternal education and with having any health insurance but not with measures of severity. Infants without health insurance are 12.8 times more likely to die than infants with any health insurance. Fifty-five percent of all deaths in infant coarctation occur prior to surgical treatment. One-third of deaths occur without diagnosis. Outcome measures require knowledge of the entire population and of insurance status to inform policy.

To investigate the cellular mechanisms for altered Ca2+ homeostasis and contractility in cardiac hypertrophy, we measured whole-cell L-type Ca2+ currents (ICa,L), whole-cell Ca2+ transients ([Ca2+]i), and Ca2+ sparks in ventricular cells from 6-month-old spontaneously hypertensive rats (SHRs) and from age- and sex-matched Wistar-Kyoto and Sprague-Dawley control rats. By echocardiography, SHR hearts had cardiac hypertrophy and enhanced contractility (increased fractional shortening) and no signs of heart failure. SHR cells had a voltage-dependent increase in peak [Ca2+]i amplitude (at 0 mV, 1330+/-62 nmol/L [SHRs] versus 836+/-48 nmol/L [controls], P<0.05) that was not associated with changes in ICa,L density or kinetics, resting [Ca2+]i, or Ca2+ content of the sarcoplasmic reticulum (SR). SHR cells had increased time of relaxation. Ca2+ sparks from SHR cells had larger average amplitudes (173+/-192 nmol/L [SHRs] versus 109+/-64 nmol/L [control]; P<0.05), which was due to redistribution of Ca2+ sparks to a larger amplitude population. This change in Ca2+ spark amplitude distribution was not associated with any change in the density of ryanodine receptors, calsequestrin, junctin, triadin 1, Ca2+-ATPase, or phospholamban. Therefore, SHRs with cardiac hypertrophy have increased contractility, [Ca2+]i amplitude, time to relaxation, and average Ca2+ spark amplitude ("big sparks"). Importantly, big sparks occurred without alteration in the trigger for SR Ca2+ release (ICa,L), SR Ca2+ content, or the expression of several SR Ca2+-cycling proteins. Thus, cardiac hypertrophy in SHRs is linked with an alteration in the coupling of Ca2+ entry through L-type Ca2+ channels and the release of Ca2+ from the SR, leading to big sparks and enhanced contractility. Alterations in the microdomain between L-type Ca2+ channels and SR Ca2+ release channels may underlie the changes in Ca2+ homeostasis observed in cardiac hypertrophy. Modulation of SR Ca2+ release may provide a new therapeutic strategy for cardiac hypertrophy and for its progression to heart failure and sudden death.

Objective: We compared the value of spin-echo and gradient-echo MR images in the evaluation of anomalies of pulmonary veins., Materials and Methods: Fourteen patients with a variety of developmental anomalies of pulmonary veins underwent MR imaging examination. Axial T1-weighted spin-echo and gradient-echo MR images were evaluated retrospectively on separate occasions during which visualization of normal and anomalous pulmonary veins was determined., Results: Of 52 pulmonary veins, 46 (88%) were identified on T1-weighted spin-echo images and 50 (96%) on gradient-echo images. Two patients had atresia of both left pulmonary veins. Of 14 anomalous veins, 11 (79%) were revealed on spin-echo images and 13 (93%) on gradient-echo images., Conclusion: Both spin-echo and gradient-echo MR images were accurate in revealing anomalies of pulmonary veins. In our study, gradient-echo images were equal or superior to spin-echo images.

To document and quantitate changes in right ventricular (RV) geometry and heart rate, we prospectively examined 35 consecutive patients with hypoplastic left heart syndrome under steady-state conditions (chloral hydrate sedation) before and after a bidirectional cavopulmonary anastomosis (hemi-Fontan) procedure. Right ventricular end-diastolic volume (RVEDV) was calculated as the product of RV cavity areas in two orthogonal planes divided by RV maximal length in either plane. After the hemi-Fontan procedure, RVEDV decreased by 33% from 33 +/- 13 to 22 +/- 11 mL (mean +/- standard deviation). Indexed RVEDV decreased from 86 +/- 37 to 57 +/- 28 mL/m2. The RV wall thickness at the diaphragm in subcostal frontal view (RVWD) increased by only 11% from 8 +/- 0.2 to 9 +/- 0.2 mm (p = not significant), but RVWD/RVEDV increased by 111% from 0.36 +/- 0.22 to 0.76 +/- 0.69 mm/mL (p = 0.002). The RV anterior wall thickness in subcostal sagittal view (RVWA) increased by only 13% from 7 +/- 0.2 to 8 +/- 0.2 mm (p = not significant), but RVWA/RVEDV increased by 103% from 0.31 +/- 0.20 to 0.63 +/- 0.54 mm/mL (p = 0.002). In 11 of 35 patients (31%), resting heart rate did not change (118 +/- 14 versus 108 +/- 9 beats/min; p = not significant); however, in 24 of 35 patients (69%), heart rate increased significantly (108 +/- 9 versus 127 +/- 10 beats/min; p = 0.05). In conclusion, RV wall thickness is high before the hemi-Fontan procedure and increases slightly in the first postoperative week.(ABSTRACT TRUNCATED AT 250 WORDS)

Nearly 10 years of experience in the use of MR imaging for the diagnosis of congenital heart disease has accumulated. Although MR imaging is superior to other techniques in showing certain structures and abnormalities such as small central pulmonary arteries in tetralogy of Fallot, aortic coarctations, and venous connections in heterotaxia syndromes, it remains an ancillary tool to echocardiography and cardiac catheterization. In this review, we examine present limitations and advantages of conventional MR in the evaluation of congenital anomalies of the heart and great vessels and explore future developments that might bring MR imaging into the diagnostic mainstream. Key improvements now in development are ultrafast MR systems for acquisition of multiple real-time MR images (in 30 msec or less) and on-line three-dimensional computer reconstruction of the heart and great vessels. Improved display and understanding of complex anatomy, as well as more extensive functional analysis of hearts before and after surgery, should be the benefits of such developments.

Objectives: To determine whether right ventricular preservation is compromised in any anatomic subgroup of hypoplastic left heart syndrome, we assessed the coronary artery anatomy and myocardial histologic features of 151 postmortem specimens with hypoplastic left heart syndrome., Background: Although previous studies have shown that coronary artery abnormalities are more prominent in the subgroup of patients who have a patent mitral valve and obstructed aortic valve, it has not been established that these abnormalities compromise right ventricular perfusion., Methods: Eighty-nine specimens with a patent mitral valve and aortic atresia, 52 with mitral and aortic atresia and 10 with patent mitral and aortic valves were examined. Histologic sections of the right ventricle, left ventricle and coronary arteries were obtained from 64 study hearts and 5 control hearts., Results: Gross coronary anomalies included coronary-cameral communications (n = 29), single left coronary artery (n = 2), single right coronary artery (n = 1) and tortuosity (n = 19). Coronary-cameral communications and tortuosity were significantly associated with the subgroup that had mitral hypoplasia and aortic atresia. Coronary artery wall thickness relative to lumen diameter was not different among the subgroups. No areas of coronary artery stenosis or interruption were discovered. Although endocardial fibroelastosis of the left ventricle was strongly associated with the mitral hypoplasia and aortic atresia group, the right ventricular histologic findings were similar in all subgroups and were not differentially affected by older age., Conclusions: Although the incidence of coronary abnormalities is greater in patients with mitral hypoplasia and aortic atresia, in this study there was no apparent difference in perfusion of the right ventricle among the anatomic subgroups of hearts with hypoplastic left heart syndrome.

After undergoing initial reconstructive surgery for hypoplastic left heart syndrome performed between August 1985 and March 1989, 59 patients (age range 3 to 27 months, mean 13.8 +/- 4.5) underwent elective cardiac catheterization in anticipation of a modified Fontan procedure. Five important hemodynamic and anatomic features considered to be components of successful reconstructive surgery were specifically addressed. 1) Interatrial communication: Only two patients had a measured pressure difference of greater than 4 mm Hg across the atrial septum. 2) Tricuspid valve function: Angiography demonstrated significant tricuspid valve regurgitation in only five patients (moderate in two and severe in three). 3) Aortic arch: Pressure tracings from the right ventricle to the descending aorta revealed a gradient greater than 25 mm Hg in only two patients. 4) Pulmonary vasculature: Ten patients had a calculated pulmonary vascular resistance greater than 4 U.m2; 51 (86%) of the 59 patients had no evidence of distortion (stenosis or hypoplasia) of either the left or the right pulmonary artery. 5) Right ventricular function: Five patients had an end-diastolic pressure in the right ventricle greater than 12 mm Hg and two patients had qualitative assessment of decreased ventricular function. Comparison of catheterization data between survivors and nonsurvivors of the subsequent modified Fontan procedure showed that only significant tricuspid regurgitation is a possible predictor of poor outcome. After first stage reconstructive surgery for hypoplastic left heart syndrome, most survivors have favorable anatomy and hemodynamics at follow-up cardiac catheterization for a subsequent Fontan procedure.

The outcome and clinical course before modified Fontan procedure were reviewed for 200 patients with hypoplastic left heart syndrome who underwent initial reconstructive surgery between August 1985 and March 1989. The median age at the time of initial reconstruction was 6 days (range, 1 day to 7.2 months). In 28 patients, a right modified Blalock-Taussig shunt was used; in 172 patients, a central shunt was placed. Additional procedures (n = 41) performed in 38 patients (median age, 5 months; range, 6 days to 17.5 months) were revision of systemic-to-pulmonary shunt (n = 15), arch reconstruction (n = 8), balloon angioplasty of arch obstruction (n = 7), atrial septectomy (n = 4), pulmonary artery angioplasty (n = 2), tricuspid valve annuloplasty or replacement (n = 4), and modified Glenn shunt (n = 1). There was no significant difference in the frequency of additional procedures performed more than 30 postoperative days in the survivors compared with the nonsurvivors. Actuarial survival rates were 0.66 (1 month), 0.48 (12 months), and 0.44 (18 months). Seventy percent of all deaths occurred during the initial admission, with 32% resulting from acute cardiovascular collapse during the first postoperative day. There was no statistical difference in actuarial survival when assessed by the type of shunt used or by anatomical subtype or when the influence of additional interventions was considered. Substantial improvement in outcome may be possible if immediate perioperative mortality can be reduced. We speculate that some of the intermediate mortality (30 days to 1 year) may be related to the effects of chronic exposure of the right ventricle to volume overload at systemic pressure.(ABSTRACT TRUNCATED AT 250 WORDS)