Incidental Finding of Lipomatous Hypertrophy of the Right Atrial Free Wall in an Elderly Female With Severe Pulmonary Hypertension: Early Detection by Multimodality Imaging.

Lipomatous atrial hypertrophy (LAH) is a benign cardiac lesion characterized by fat accumulation in the interatrial septum that spares the fossa ovalis. It is associated with obesity and is more frequently observed in elderly and female patients. It is most often detected as an incidental finding on transthoracic echocardiography (TTE). The deposition of adipose tissue may rarely involve both the interatrial septum and the right atrial (RA) free wall. Herein, we describe an extremely rare case of LAH limited to a portion of the RA free wall only, mimicking a myxoma or a thrombotic formation. A multi-instrumental evaluation comprehensive of TTE implemented with pulsed-wave tissue Doppler imaging (PW-TDI), transesophageal echocardiography (TEE), and computed tomography (CT) angiography, performed during the patient's stay in the emergency department, allowed to quickly diagnose the benign RA pseudomass.

Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant.

Complete interferon-γ receptor 1 deficiency is a monogenic primary immunodeficiency caused by IFNGR1 germline defects, with autosomal dominant or recessive inheritance, which results in invasive mycobacterial diseases with varying degrees of severity. Most of the autosomal recessive IFNGR1 mutations are homozygous loss-of-function single-nucleotide variants, whereas large genomic deletions and compound heterozygosity have been very rarely reported. Herein we describe the clinical presentation, diagnosis, and successful treatment with hematopoietic stem cell transplantation of a child with disseminated Mycobacterium avium infection due to compound heterozygosity for a subpolymorphic copy number variation and a novel splice-site variant.

Inferior vena cava, abdominal aorta, and IVC-to-aorta ratio in healthy Caucasian children: Ultrasound Z-scores according to BSA and age.

The pediatric ultrasound measurement of the inferior vena cava (IVC) and aorta (AO) with the study of the collapsibility index (CI) and of IVC-to-AO ratio (IVC/AO) can provide clinicians in the acute care setting with information on abnormal volume status but one of the major limitations is a lack of reference normal values by body surface area (BSA) and age. The aim of this study was to provide reference ranges for the sonographic measurement of IVC, AO, and IVC/AO ratio in healthy Caucasian Italian children. METHODS: We enrolled prospectively 516 healthy Caucasian Italian children aged between 1 month and 16 years. Echocardiographic IVC and AO diameters were collected and presented separately for children aged ≤1 year and for children aged over 1 year. For children >1 year we categorized subjects into 3 years classes. CI and IVC/AO for the systolic aortic diameter were then calculated. For children over 1 year, age reference ranges were age-related or BSA-related; for children of ≤1 year, reference ranges were determined with their 90% confidence intervals regardless of age and of BSA. RESULTS: Tables and charts with reference ranges for all the echocardiographic measurements are presented for children aged >1 year according to age and BSA. The equations to obtain percentile and Z-score for each echocardiographic measurement are provided. The reference ranges for children aged ≤1 year are shown considering the small 90% confidence intervals for upper and lower limits. CI was 30% (SD 17%) in children >1 year and 36% (SD 16%) in children <1 year. IVC/AOs showed age-dependent values from 0.83 (SD 0.20) age <1 year to 1.22 (SD 0.31) in older subjects. CONCLUSIONS: We report reliable reference ranges for echocardiographic measurement of IVC, AO, CI, and IVC/AO for a Caucasian Italian healthy pediatric population.

Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene.

We report definitive diagnosis and effective treatment with oral cholic acid in one Italian male child affected by 3ß-hydroxy-Δ5-C27-steroid dehydrogenase (3ß-HSD) deficiency. He presented with failure to thrive, hepatomegaly and multiple cystic images in kidneys; no biochemical evidence of cholestasis. Large amounts of bile acid metabolites was detected in urine by fast atom bombardment ionization mass spectrometry (FAB-MS). HSDH3B7 gene analysis identified one mutation in intron 4, at nucleotide 432, G>A substitution that has never been reported before.The replacement therapy with oral cholic acid started early after the diagnosis and is still ongoing. Three years later hepatomegaly is no longer evident, liver function is normal and the child is growing regularly. In our experience, clinical features of 3ß-HSD deficiency can be very poor and even cholestasis can lack at diagnosis. Early replacement therapy with cholic acid is safe and leads to clinical and biochemical control of the disease.

Congenital vascular rings: a clinical challenge for the pediatrician.

Vascular rings are congenital anomalies that lead to variable degrees of respiratory problems or feeding difficulties by forming a complete or partial ring compressing the trachea, the bronchi, and the esophagus. The clinical diagnosis of vascular rings is often challenging for the pediatrician because the clinical manifestations are heterogeneous and nonspecific. Symptoms can vary from wheezing, stridor, dyspnea, and/or dysphagia to life-threatening conditions; however, they may not be present. The aim of this study is to review the recent literature on this subject and describe new developments in diagnostics and imaging.