1/17. Asymmetric crying facies and congenital hypothyroidism: report of two patients.A congenital asymmetric crying facies (ACT) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and rarely, the endocrine system. It is also well known that congenital hypothyroidism may be associated with other congenital malformations, especially with cardiac defects. Two newborn infants who had ACF associated with congenital heart defect and congenital hypothyroidism are described. To the best of our knowledge the association of ACF and congenital hypothyroidism has not previously been published.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
2/17. Scimitar vein anomaly with multiple cardiac malformations, craniofacial, and central nervous system abnormalities in a brother and sister: familial scimitar anomaly or new syndrome?The scimitar vein "syndrome" is an anomaly of lobar aplasia or hypoplasia and total or partial anomalous venous drainage of one lung. We report a brother and sister born to nonconsanguineous Italian parents with a fatal infantile form of scimitar vein anomaly associated to multiple cardiac anomalies. The infants had major craniofacial anomalies. In addition, the boy had iris coloboma and enlarged cisterna magna; both sibs showed poor brain myelination at neuroimaging confirmed by histopathology in the girl. The cardiovascular system in the family members was fully investigated and all results were completely normal. The association of the above craniofacial anomalies has been occasionally mentioned in syndromes with anomalous venous return. The familial occurrence of isolated total anomalous pulmonary venous return has been documented in sibs, first cousins, and through consecutive generations. Familial pulmonary hypoplasia, as an isolated finding, has been observed in siblings and twins. To the best of our knowledge, even though five familial cases of scimitar "syndrome" have been described thus far, the constellation of anomalies shown by these two sibs has not been reported previously. It appears that scimitar vein "syndrome" is not a "syndrome" per se: it is most likely an anomaly of heterogeneous etiology. This family may represent its own novel syndrome of multiple congenital anomalies of which scimitar vein is a component.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
3/17. Isolated non-compaction of the ventricular myocardium: prenatal diagnosis and natural history.Isolated non-compaction of the ventricular myocardium (NCVM) is a rare cardiomyopathy characterized by the persistence of numerous marked ventricular trabeculations and deep intertrabecular recesses with direct vascular supply by the ventricular cavities. We report two cases diagnosed by fetal echocardiography at 27 and 30 weeks' gestation, respectively. Postnatal echocardiography verified the presence of the NCVM seen prenatally. Diagnosis was confirmed at postmortem following neonatal demise in the first case. Surgical intervention for exomphalos and extrahepatic biliary atresia was required in the second case, but there is no clinical abnormality of the cardiovascular system a year after delivery. The uncertainty of prognosis and the familial recurrence described elsewhere indicate the difficulty of counseling and the value of prenatal diagnosis, which is feasible using currently available ultrasonographic equipment.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
4/17. Right-sided aortic arch and tetralogy of fallot in humans--a morphological study of 10 cases.INTRODUCTION: A right-sided aortic arch (RAA) represents a rare anomaly of the cardiovascular system. In situs solitus, RAA is typically associated with malformations of the cardiac outflow tract such as tetralogy of fallot (TOF). RAA is classified according to the course and ramification pattern and the position of the arterial duct. Varying data on the frequency of the RAA ramification patterns are reported in the literature. methods: We examined 10 formalin-fixed human specimens aged 3 weeks to 10 years. In each case, we investigated the course of the aortic arch, its ramification and the position and course of the arterial duct/ligament as well as associated cardiac malformations. RESULTS: Three different ramification patterns became evident: mirror-image branching (n=7), aberrant left subclavian artery (n=2) and isolated left subclavian artery (n=1). The arterial duct was situated either on the left side connecting the left pulmonary artery to the left subclavian artery (n=6) or on the right-hand side between the right pulmonary artery and the aortic arch (n=3). The duct was absent in one case. The most frequent combination was a mirror-image branching pattern with a left-sided arterial duct (n=4). CONCLUSIONS: The various ramification patterns of the RAA are explained by differences in growth and involution of the embryonic double-aortic arch "anlage." Genetic factors as well as mechanical influences may be involved in the aetiology of RAA. The percentage of the various RAA patterns strongly depends on the examination material available.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
5/17. Cardiac and other malformations in parapagus twins.INTRODUCTION: Conjoined twins occur in one 50-200,000 live births and approximately 75% of all cases are thoracopagus twins. Parapagus conjoined twins are rare and are not included in many review articles. CASE REPORT: The cardiovascular system of a male parapagus (dicephalus, tetrabrachius, dipus) conjoined twins was studied. Twin B had bilateral bilobed lungs and a normal heart, while bilateral trilobed lungs and right isomerism was found in twin A. They shared a diaphragm and an abdominal cavity. There were two complete heads on two necks, two thoraxes, one abdomen, four arms, two legs, two complete vertebral columns, a single pelvis, and severe cardiac abnormalities.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
6/17. Congenital cardiac malformations in relation to central venous access.During the third and seventh weeks of gestation, teratogenic exposure may lead to fetal abnormality such as congenital heart defects or intrauterine death. Congenital heart defects are present from birth, but may appear at any time, or only revealed postmortem. Often defects are present by degree. Some defects are life-threatening, while other, less severe conditions, may have minimal physiological impact. Left superior vena cava exists in early embryonic development, but the vessel degenerates as the cardiovascular system matures. When not associated with other malformations, an incidence of persistent left-sided superior vena cava (PLSVC) has no clinical signs or symptoms. However, it may not be as innocuous as it appears due to its association with the cyanotic defect, tetralogy of fallot (TOF). Using a case history as an illustration it can be shown that all cases of defect or chromosomal suspicion should be documented as there may be implications for future interventions.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
7/17. Heart-hand syndrome II. A report of Tabatznik syndrome with new findings.The association of upper limb malformations and congenital cardiac anomalies was established as a definite clinical and genetic entity by Holt & Oram in 1960. Significant variability of malformations in both the upper limbs and the cardiovascular system has been well documented. In 1978, Temtamy & McKusick reported a family studied by Tabatznik, in which upper limb deformities, including type D brachydactyly, occurred in association with cardiac arrhythmias as a dominant, either autosomal or X-linked trait. They called this apparently new entity "Heart-hand syndrome II" to distinguish it from the Holt-Oram syndrome. No other similar cases have subsequently been reported. We describe here the second family affected with the Tabatznik syndrome and add some new findings to the clinical spectrum of this condition.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
8/17. Ultrasonographic prenatal diagnosis of conjoined thoracopagus twins: a case report.A case of prenatal diagnosed thoracopagus conjoined twins is presented. In thoracopagus twins the cardiovascular system mainly determines the options for separation and survival. Therefore prenatal investigation of this organ system is indispensable. Ultrasound level-2 examination predicted the impossibility of separation and fully matched the autopsy findings. In conclusion, ultrasound examination appears to be an important tool to enable planning of the optimal delivery approach.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
9/17. Anesthetic management of labor in a patient with dextrocardia, congenitally corrected transposition, wolff-parkinson-white syndrome, and congestive heart failure.Labor and delivery greatly stress the cardiovascular system. In this patient with underlying congenital heart disease and congestive heart failure, hemodynamic stability was maintained with a combination of lumbar epidural and caudal epidural anesthesia.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
10/17. Cardiovascular pathology in osteogenesis imperfecta type IIA with a review of the literature.Lethal perinatal osteogenesis imperfecta (OI Type II) is a biochemically diverse collagen disorder characterized by short, crumpled long bones, beaded ribs, blue sclerae and thin, fragile skin. cardiovascular abnormalities are rarely described. Using morphometry and light and electron (SEM and TEM) microscopy, we analyzed the hearts and great vessels from 2 fetuses with OI Type IIA and compared the findings with age-matched controls. The heart weights and atrioventricular valve (AVV) circumferences were reduced in OI. The chordae tendineae were short and fragile; both the AVVs and the chordae tendineae were hypercellular. TEM showed relatively little organized collagen in the chordae tendineae of OI fetuses. Furthermore, quantitative evaluation of collagen fibril size revealed a decrease in the cross-sectional diameter. There was also a marked decrease in the adventitial and intramural collagen of the intramyocardial arteries and great vessels in OI. Our study reports, for the first time, specific lesions in the cardiovascular systems of patients with OI Type II and reviews the cardiovascular pathology in other forms of OI.- - - - - - - - - - ranking = 1keywords = cardiovascular system (Clic here for more details about this article) |
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