[Immature intrapericardial teratoma: a case report in a newborn]. / Teratoma immaturo intrapericardico: un caso clinico in un neonato.

We report the case of an intrapericardial teratoma, diagnosed at 38 weeks of gestation. Echocardiography revealed a 38 x 39 mm multicystic pedunculated mass compressing the right atrium and the right ventricle, but without symptoms, associated with severe anterior pericardial effusion. Surgical resection of the mass was performed after birth successfully. The histological description of the tumor after excision was reported an immature multicystic teratoma grade 2 of 3, with immature neural tissue and without yolk sac tumor cells. The baby had a favorable postoperative course.

Can carotid plaque histology selectively predict the risk of an acute coronary syndrome?

The aim of this study was to assess whether carotid plaque morphology is an independent predictive factor of stroke and, innovatively, of acute coronary syndrome (ACS). We analyzed morphological aspects of carotid atherosclerotic plaque associated with an increased risk of ACS and stroke. We examined 72 carotid endarterectomy (CEA) specimens obtained between January 2005 and February 2009. All patients underwent follow-up for 12 months after the revascularization treatment to assess the occurrence of ACS and stroke. Data obtained showed that in patients with a previous ACS and in those who had developed an ACS during follow-up after CEA, the degree of carotid plaque calcification was more severe than in patients who did not develop an ACS, either before CEA or during follow-up. However, plaques of patients with ACS were mostly devoid of a significant inflammatory component, whereas a rich infiltrate, mainly consisting of monocytes-macrophages and lymphocytes, was present in plaques of subjects who did not develop an ACS. This element was particularly important since strokes occurred only in the latter group of patients (62% versus 0%). Therefore, we deduced that inflammation, from the histological point of view, is more correlated with cerebral circulation disorders than with coronary disease. In conclusion, while the finding of a soft plaque with a large necrotic core and a marked inflammatory component, often characterized by acute complications, may be predictive of an increased risk of cerebro-vascular events, a heavily calcified plaque may be indicative of a high risk of coronary events.

Sudden cardiac death secondary to demonstrated reperfusion ventricular fibrillation in a woman with Takotsubo cardiomyopathy.

Takotsubo cardiomyopathy is a left ventricle cardiomyopathy characterized by a reversible dyskinesia responsible for the typical apical ballooning aspect. The disease is considered benignant with a full recovery within a few weeks. We present the case of a 52-year-old woman who presented with angina diagnosed with Takotsubo cardiomyopathy on the basis of both noninvasive (electrocardiography, echocardiography) and invasive (angiography) exams. At discharge, a Holter monitor was fitted to the patient. During the recording the patient faced sudden cardiac death. The analysis of the Holter traces allowed some speculations on the mechanism of this unexpected arrhythmic death. The cause of the fatal ventricular fibrillation appears to be the fast reperfusion following a short occlusion of an epicardial coronary artery. This case highlights the epicardial vasospasm as an important pathogenic mechanism of the syndrome and the possible usefulness of diagnostic tests able to elicit the spasm susceptibility and guide a more targeted pharmacological therapy. Some considerations are also possible on the cellular processes linking the rapid reperfusion and the arrhythmias onset.

Neoplastic disease and deletion 22q11.2: a multicentric study and report of two cases.

Deletion 22q11.2 is a chromosomal abnormality detected in young patients with clinical manifestations of the DiGeorge/velocardiofacial syndrome. Conotruncal heart defects are also associated with del22q11.2. An association of these cardiac malformations with neoplasias has been observed. Our series includes two cases of malignancies, a hepatoblastoma and a renal-cell carcinoma, arising in children with complex cardiac malformations. The aim of the study was to determine if the deletion at 22q11.2 was present and could be responsible for both pathological processes. Del22q11.2 was identified in both cases. Comparative genomic hybridization revealed terminal gains on chromosomes 1q and Xq and terminal loss on 1p in the hepatoblastoma, and gains in 1p, 12q, 16p, 20q, 22q, and whole chromosome 19 and loss of Xq in the renal-cell carcinoma. Our results confirm a common genetic basis for cardiac malformations, and del22q11.2 presents a risk factor for the development of pediatric tumours.

22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: impact of additional ultrasound signs.

OBJECTIVES: One hundred and forty-one consecutive cases of malformations of the outflow tracts or interrupted aortic arch (IAA), detected by fetal echocardiography, underwent detailed anatomy scan, karyotyping and fluorescence in situ hybridization analysis (FISH) to detect the prevalence of 22q11 microdeletion and to evaluate neonatal clinical findings and outcome according to the presence of the genetic defect. Then, we sought to investigate whether some prenatal ultrasound findings could help identify fetuses at higher risk of carrying the 22q11 microdeletion. METHODS: Echocardiography and FISH for the DiGeorge critical region (22q11) were performed in all cases. RESULTS: 22q11 microdeletion was detected in 28 of 141 fetuses (19.8%). Intrauterine growth restriction (IUGR) appeared to be associated with the worst prognosis, being present in 2/2 intrauterine fetal deaths and 5/6 post-natal deaths. IUGR, additional aortic arch anomalies and thymic hypo/aplasia were significantly more frequent in fetuses with 22q11 microdeletion (p=0.011, 0.011 and <0.0001, respectively). Prenatal ultrasound thymus examination, performed on the last 84 fetuses, showed 75% sensitivity and 94% specificity. The combination of 2 predictors, namely, thymus defects and IUGR associated with additional aortic arch anomalies reached more than 90% sensitivity and 100% specificity. CONCLUSIONS: Our study demonstrates that 22q11 microdeletion occurs in 20% of malformations of the outflow tracts and IAA type B, as detected in utero, and that this association is significantly predicted by the presence of associated ultrasound findings: thymic hypo/aplasia, IUGR and additional aortic arch anomalies. The feasibility of a correct prenatal diagnosis should enable clinicians to provide the couple with further informative counselling and to plan adequate post-natal medical interventions.

Prenatal diagnosis of ductus venosus agenesis and its association with cytogenetic/congenital anomalies.

OBJECTIVES: We present an observational study of 12 cases of anomalies of the umbilical and portal vein systems associated with absence of the ductus venosus (DV) diagnosed over the past 5 years. The hemodynamic implications of each pattern of umbilico-portal system anomalies associated with absence of the DV have been investigated, as well as the frequency and types of associated anomalies and their embryological origin. METHODS: In all cases ultrasound, color Doppler, and cytogenetic investigations were performed. RESULTS: Four main patterns of abnormal venous circulation were documented: (1). the umbilical vein (UV) bypasses the liver and drains into the right atrium directly or through a dilated coronary sinus (three cases); (2). the UV bypasses the liver, with an infrahepatic or suprahepatic connection directly to the inferior vena cava (IVC) (two cases); (3). the UV bypasses the liver and drains directly into the iliac or renal veins (four cases); and (4). the UV drains directly into the portal veins (three cases). Among seven cases with other associated anomalies (58%), there were three cases of Turner's and Noonan's syndromes. Two fetuses and two neonates died and there were two terminations of pregnancy (TOP). CONCLUSIONS: In utero diagnosis of ultrasound patterns associated with DV anomalies is feasible. Fetal karyotyping should be considered, serial ultrasound examinations recommended and, in the presence of heart failure, delivery can be anticipated.

Experience with first level ultrasound and echocardiography for a selected and an unselected population.

OBJECTIVE: To evaluate the difference in prevalence, distribution and prenatal detection rate of congenital heart disease (CHD) in both newborns and second trimester termination of pregnancy (TOP) in two separate time periods. PATIENTS AND METHODS: At the University Hospital of Bari, an observational study was performed, which included all cases of CHD in newborns and second trimester TOP during the periods 1998-99 and 1992-93. Prevalence, distribution and prenatal diagnosis in each group were evaluated, also selecting cases with and without known risk factors. RESULTS: Prevalence of CHD in livebirths and aborted fetuses did not change between the two periods and the same was observed for distribution of CHD spectrum. In the more recent period antenatal detection of CHD significantly increased only in TOP. Moreover, classifying all cases as low or high risk, detection rates were significantly increased in high risk cases while they were unchanged in the general population. CONCLUSION: Our data show that antenatal detection of CHD is ameliorated by concentrating expertise and good equipment on high risk cases, while it remains low in the general population.