Intrapericardial Ectopic Hepatic Tissue Masquerading as a Fetal Pericardial Tumor.

Prenatal diagnosis of pericardial mass, with associated large pericardial effusion, resected postnatally and diagnosed to be ectopic hepatic tissue on pathology.

Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency.

Inherited deficiency in ether lipids, a subgroup of glycerophospholipids with unique biochemical and biophysical properties, evokes severe symptoms in humans resulting in a multi-organ syndrome. Mouse models with defects in ether lipid biosynthesis have widely been used to understand the pathophysiology of human disease and to study the roles of ether lipids in various cell types and tissues. However, little is known about the function of these lipids in cardiac tissue. Previous studies included case reports of cardiac defects in ether-lipid-deficient patients, but a systematic analysis of the impact of ether lipid deficiency on the mammalian heart is still missing. Here, we utilize a mouse model of complete ether lipid deficiency (Gnpat KO) to accomplish this task. Similar to a subgroup of human patients with rhizomelic chondrodysplasia punctata (RCDP), a fraction of Gnpat KO fetuses present with defects in ventricular septation, presumably evoked by a developmental delay. We did not detect any signs of cardiomyopathy but identified increased left ventricular end-systolic and end-diastolic pressure in middle-aged ether-lipid-deficient mice. By comprehensive electrocardiographic characterization, we consistently found reduced ventricular conduction velocity, as indicated by a prolonged QRS complex, as well as increased QRS and QT dispersion in the Gnpat KO group. Furthermore, a shift of the Wenckebach point to longer cycle lengths indicated depressed atrioventricular nodal function. To complement our findings in mice, we analyzed medical records and performed electrocardiography in ether-lipid-deficient human patients, which, in contrast to the murine phenotype, indicated a trend towards shortened QT intervals. Taken together, our findings demonstrate that the cardiac phenotype upon ether lipid deficiency is highly heterogeneous, and although the manifestations in the mouse model only partially match the abnormalities in human patients, the results add to our understanding of the physiological role of ether lipids and emphasize their importance for proper cardiac development and function.

The utility of echocardiography and pulmonary function testing in the preoperative evaluation of pectus excavatum.

PURPOSE: Echocardiography (ECHO) and pulmonary function testing (PFT) are routinely performed during the preoperative evaluation of pectus excavatum (PE). We hypothesized that these investigations may be performed selectively based on patient symptoms and pectus severity. METHODS: A retrospective review of all PE patients who underwent a Nuss procedure during a 15-year period (2004-2018) was conducted. Symptoms, clinical characteristics, ECHO, and PFT results were extracted from the medical chart. PE severity on computed tomography was measured using the Haller Index (HI) and Correction Index (CI), and reported as mean ± SEM. Logistic and linear regression assessed the ability of symptoms and indices to predict abnormal cardiopulmonary test results. RESULTS: Of 119 patients, 116 patients had symptom documentation, and 74 (64%) had one or more symptoms. HI and CI were 3.8 ± 1.0 and 31.6 ± 10.3, respectively. Of those with ECHO available (111), 14 (13%) were abnormal, and 12 of 14 required cardiology follow-up. Of those with PFT available (90), the results were abnormal in 15 (17%), including 9 (11%) obstructive, 4 (5%) restrictive, and 2 (2%) mixed. The presence of symptoms did not predict abnormal ECHO or PFT, but each standard deviation increase in the CI was associated with abnormal PFT and ECHO by a factor of 2.2 and 2.0 respectively. HI severity was only associated with ECHO. CONCLUSION: The rates of abnormal ECHO and PFT testing in PE patients are low, and do not correlate with symptoms. Routine ECHO is still recommended to detect anomalies requiring follow-up. Elevated CI severity may be used to guide selective PFT testing. LEVELS OF EVIDENCE: Retrospective Study, Level III.