Giant aneurysm of the atrial septum associated with premature closure of foramen ovale

Premature closure or restriction of foramen ovale (PCFO) is a rare congenital anomaly that can lead to a wide spectrum of cardiac malformations. This spectrum of secondary malformations appears to depend on the gestational timing of closure of the foramen ovale and to the degree of restriction. Earlier in the gestation, closure of the foramen has been associated with severe hypoplasia of the left ventricle whereas later closure has been associated with right heart failure and rarely with the formation of an aneurysm of the atrial septum. We describe the case of a 1 day old infant in whom PCFO resulted in severe right heart failure in addition to the formation of a giant atrial septal aneurysm

A hydatidiform mole in a postmenopausal woman. A case report and review of the literature

Gestational trophoblastic disease occurs in less than 1 per 1200 pregnancies in the United States. The spectrum of this disease ranges from benign hydatidiform mole to trophoblastic malignancy (placental-site trophoblastic tumor and choriocarcinoma). Benign gestational trophoblastic disease generally occurs in women of reproductive age and is extremely rare in postmenopausal women. To our knowledge, our case represents only the third description in the world literature of a benign complete hydatidiform mole in a woman with a history of amenorrhea greater than 1 year. We describe the case of a 61-year-old postmenopausal woman who underwent an emergent total abdominal hysterectomy due to uncontrollable vaginal bleeding associated with an increased serum beta-human chorionic gonadotropin level. The resected uterus contained an endometrial, cystic, grapelike tumor. Microscopic examination demonstrated hydropic degenerated villi with a circumferential trophoblastic cell proliferation and moderate atypia, consistent with a complete hydatidiform mole. The morphologic and immunophenotypic characteristics are presented, as well as the results of a literature review

Neointimal hyperplasia on a cell-seeded polytetrafluoroethylene graft is promoted by transfer of tissue plasminogen activator gene and inhibited by transfer of nitric oxide synthase gene

The objective of this study was to examine the effect of tissue plasminogen activator (tPA) and endothelial nitric oxide synthase (eNOS) on thrombosis and neointimal hyperplasia on a polytetrafluoroethylene (PTFE) graft seeded with smooth muscle cells (SMCs). SMCs retrovirally transduced with tPA and eNOS genes were seeded on PTFE grafts and then implanted into the infrarenal rabbit aorta. Thrombosis and neointimal hyperplasia on the grafts were examined after 30 and 100 days of implantation. At 30 days of implantation, thrombus was observed on the luminal surface of both unseeded and SMC seeded control grafts, whereas grafts seeded with SMCs secreting tPA were nearly free of thrombus. At 100 days, the neointima on grafts seeded with tPA transduced SMCs was significantly thicker (925 ± 150 μm, n = 5) than neointima on the other grafts (range, 132 to 374 μm; P < .001). Neointima thickness on grafts seeded with eNOS transduced SMCs (154 ± 27 μm) was similar to that of unseeded grafts (132 ± 16 μm, P > .05); both were thinner than those on grafts seeded with SMCs transduced with only lacZ gene (287 ± 35 μm). The ratio of seeded cells in the neointima was significantly higher on SMC/tPA grafts (46% ± 8%) than SMC/NOS grafts (21% ± 6%, P < .05), indicating tPA transduced cells proliferated more than eNOS transduced cells. Engineered tPA expression in seeded SMCs causes significantly more neointimal hyperplasia, despite the favorable inhibition of luminal thrombus. eNOS expression in the seeded cells inhibits neointimal hyperplasia. Vascular prosthetic grafts are vulnerable to thrombosis and restenosis resulting in high incidence of limb loss when autogenous vein is not available. Modification of vascular prosthetic grafts to more closely mimic natural conditions may protect against clot formation and may have an immediate and prolonged effect on vascular surgical results. This study examined the patency of a prosthetic vascular graft by seeding the grafts with genetically engineered cells to prevent thrombosis and restenosis

Pulmonary embolism with bone fragments following vertebral body marrow infusion for tolerance induction

Protocols of donor bone marrow infusion for tolerance induction are receiving increasing attention in clinical trials of organ allotransplantation. We report pulmonary embolism with bone fragments following vertebral body marrow infusion in a recipient of a liver and intestinal transplant. Even though pulmonary embolism with bony microfragments has been widely described following bone marrow transplantation, the use of single, high-dose donor bone marrow infusion and/or multiple infusions currently under clinical investigation for induction of donor specific unresponsiveness, may warrant the implementation of additional steps in the vertebral body marrow processing technique to decrease or eliminate the component of bony microfragments in the final preparation

CAUDAL DYSPLASIA SYNDROME AND SIRENOMELIA: ARE THEY PART OF A SPECTRUM?

Caudal dysplasia syndrome (CDS) is associated with hypoplastic lower extremities, caudal vertebrae, sacrum, neural tube, and urogenital organs. Sirenomelia is characterized by a single lower extremity, absent sacrum, urogenital anomalies, and imperforate anus. There is controversy in the medical literature about whether sirenomelia and CDS are part of the spectrum of the same malformation. Patients with CDS and sirenomelia were identified from our pathology files from 1991 to 2006. Maternal history, pathologic examination, and radiographs were collected and tabulated. We found 9 cases with CDS and 6 with sirenomelia. Fully 7 of 9 patients with CDS (77.7%) versus none of sirenomelic babies were infants of diabetic mothers. Congenital heart disease was present in 5 patients with CDS (55.5%) and none of the infants with sirenomelia. Of 9 children with CDS 2 (22.2%) had bilateral renal agenesis versus 66% of sirenomelics. Single umbilical artery was found in 33% of cases with CDS and 100% of children with sirenomelia. External genitalia were ambiguous in 2 of 9 patients (22.2%) with CDS and in all patients with sirenomelia. Imperforate anus was found in 10 cases (66.6%) divided as 4 of 9 babies with CDS (44.4%) and all patients with sirenomelia. Three patients with CDS had concomitant maternal diabetes mellitus and chronic hypertension. These babies also had cleft lip and palate. Congenital heart disease was found in 55.5% of cases with CDS and none of the children with sirenomelia. We conclude that although CDS and sirenomelia share many similar features, they are two different entities

Value of Autopsy in Nonimmune Hydrops Fetalis: Series of 51 Stillborn Fetuses

Nonimmune hydrops fetalis (NIHF) is used to describe fetuses and newborns with generalized edema and cavity effusions. It is helpful to alert physicians about the presence of anemia, heart failure, and/or hypoproteinemia, but this diagnosis is frequently overlooked. We reviewed the autopsy files from 1990 to 2000, selected all cases with NIHF including clinical information (with maternal laboratory tests and ultrasound), and classified patients by etiology. Among 840 stillborn autopsies during the 11-year period, we found 51 with NIHF (6.07%). The clinical summary had mentioned hydrops in 14 patients and the etiology in another 7 by fetal ultrasonography, but without addressing the possibility of hydrops. In the remaining 30 cases neither hydrops nor an etiology was mentioned. Other pertinent diagnoses were maternal diabetes mellitus (4), congenital heart disease (3), and cystic hygroma (2). The following diagnoses were made in one instance each: cardiac tumor, twin transfusion syndrome, congenital adenomatoid malformation, syphilis, Turner syndrome, and cerebral arteriovenous malformation. Postmortem and placental examination confirmed the following etiologies: congenital infections (17); placental pathology significant enough to explain NIHF (10); cardiovascular diseases (8) (further classified as congenital heart disease [3], rhabdomyoma [1], and vascular malformations [4]); chromosomal abnormalities (6); uncontrolled maternal diabetes (4); intrathoracic lesions (2); prune-belly syndrome (2); and idiopathic NIHF (2). Only 3.9% of the cases studied had no identifiable etiology. The cause of hydrops was confirmed by autopsy in 47 fetuses (92%), which further supports the importance of performing an autopsy. Thirty-two cases (62.74%) had placental abnormalities helpful to the etiology (parvovirus, syphilis, Turner's syndrome, etc.). In 20 instances, the clinical summary had no mention of either hydrops or any of the diseases leading to it. The autopsy in conjunction with placental examination and fetal ultrasound represent the best combination to determine the etiology of NIHF among stillborn fetuses

Nonimmune hydrops fetalis in the liveborn: series of 32 autopsies

Nonimmune hydrops fetalis (NIHF) or generalized soft tissue edema and cavity effusions may be due to cardiovascular diseases, congenital infections, genitourinary malformations, thoracic masses, placental conditions, chromosomal abnormalities, and idiopathic. We report 32 cases of NIHF from among 429 neonates who underwent autopsies (incidence 7.45%). Sixteen cases (50%) had cardiovascular disease; all were due to low output cardiac failure; 7 had structural congenital heart disease. Three of the children with congenital heart disease also had chromosomal abnormalities: 2 had trisomy 18 and 1 had Noonan syndrome. Among myocardial conditions were five subjects with cardiomyopathies (1 of each of the following types): oncocytic, dilated, endocardial fibroelastosis, cardiac glycogenosis, and carnitine deficiency; 3 had myocarditis, and 1 had cardiac rhabdomyomas. Congenital infections were due to cytomegalovirus in 3 cases, bacteria in 2, and parvovirus in 1. The mechanism of NIHF in these cases might be a combination of decreased myocardial contractility due to myocarditis and fetal anemia. Genitourinary diseases were present in 5 newborns: Two had congenital nephrotic syndrome, 1 had VACTER association, 1 had prune-belly syndrome, and 1 had urogenital sinus malformation. Intrathoracic lesions were found in 2 babies (pulmonary sequestration and diaphragmatic hernia). One twin died of volume overload due to twin transfusion syndrome. Only 2 newborns were classified as idiopathic. Our study shows that cardiovascular diseases that lead to heart failure or impaired venous return are more common in the liveborn (50%), whereas congenital infections are more common in the stillborn with NIHF