Coarctation of the aorta in adults: what is the best treatment? Case report and literature review.

Coarctation of the aorta is a congenital cardiac malformation that can go undiagnosed until old age with only hypertension as a marker of its presence because clinical signs can be subtle and overlooked if a complete physical exam is not performed. We report the case of a 45 year-old women, diagnosed with severe coarctation of the aorta just distal to the left subclavian artery, with poststenotic dilatation of the descending aorta and difficult control of blood pressure values. The patient was successfully treated interventionally, by balloon angioplasty with deployment of a covered stent. We review here the different methods employed for the treatment of coarctation of the aorta in adults, including surgical or percutaneous balloon angioplasty with or without stent placement, underlying their complications and the factors that influence the choice of the best coarctation repair method.

Brain abscess in children - epidemiology, predisposing factors and management in the modern medicine era.

AIMS: Brain abscess is rare in children. Predisposing factors are found in almost 85% of cases. Overall, 25% of brain abscesses develop in children, mostly in the 4-7 years age group. Our study aimed to characterize children with brain abscesses treated in our hospital, identify risk factors, pathogens and short-term outcome. METHODS: A retrospective cohort of 20 years period, (1989-2009) included 27 children (0-18 years). Medical records were analysed for age, gender, presenting symptoms and signs, predisposing factors, laboratory tests, imaging, microbiology results, treatment and outcome. RESULTS: Of all the children, 63% (17/27) were male patients; mean age was 7.9 years and 52% were referred from other hospitals. Predisposing factors were identified in 81%, congenital heart disease and otitis were rare and sinusitis was found in 22% of the children. Main symptoms and signs included headaches, fever, neurological signs convulsions, (41%, 81%, 78% and 41% respectively). In 30% of cases, cultures were sterile. All patients were operated in addition to antibiotic treatment. Outcome was good with low mortality rate (3.7%). CONCLUSIONS: Manifestations of brain abscess may be subtle. A high index of suspicion and early imaging are warranted, different predisposing factors may reflect early intervention for congenital heart diseases. Mortality is rare in the modern medicine era.

Patent foramen ovale closure in post-CVA/TIA patients: psychological distress, quality of life and optimism.

BACKGROUND: Patent foramen ovale (PFO) is common in asymptomatic adults, but imposes higher risk for transient ischaemic attack (TIA) or cerebral vascular accident (CVA). Trans-catheter closure of the PFO is now a common procedure in patients after cryptogenic CVA or TIA. No studies to date have assessed the psychological aspects of PFO closure. AIMS: To assess the level of psychological distress, quality of life and optimism in patients post-PFO closure in comparison with healthy age-matched controls. METHODS: A total of 89 patients who had undergone trans-catheter PFO closure and 60 age-matched controls were enrolled in the cross-sectional study. They answered demographic, health, quality of life, anxiety and depression and optimism questionnaires. RESULTS: PFO patients and controls reported similar levels of quality of life, depression and anxiety, although the study group reported a higher level of optimism. An age x group effect appeared for depression, indicating that older controls were significantly more depressed than their counterparts in the study group and than the younger participants in both groups. Optimism significantly accounted for the variance of depression, anxiety and quality of life, and age significantly accounted for depression and quality of life, while group also significantly accounted for depression. CONCLUSIONS: Post-PFO closure patients enjoy good psychological well-being and quality of life, and are more optimistic, which supports the view of optimism as a situational trait.

Percutaneous closure of a secundum atrial septal defect after surgical pericardectomy.

A case of successful closure of a percutaneous atrial septal defect following surgical pericardectomy is described. Clinical and haemodynamic aspects of atrial septal defects associated with constrictive pericarditis are also discussed.

Sudden cardiac death caused by native aortic valve thrombosis in an adult patient with a complex congenital cyanotic heart disease.

Cyanotic congenital heart disease is associated with an increased risk of thromboembolism. We describe the case of sudden cardiac death caused by native aortic valve thrombosis in adult cyanotic patient. Such embolic complication was not previously described in cyanotic patient. It is also the first report of sudden cardiac death as an initial presentation of the native aortic valve thrombosis. Cyanotic congenital heart disease (CCHD) is associated with an increased risk of thromboembolism due to different haemathologic abnormalities associated with hypoxemia and secondary polycythemia [H. Kajimoto, M. Nakazawa, K. Murasaki, et al. Increased thrombogenesity in patients with cyanotic congenital heart disease. Circ J Jun 2007;71(6):948-953]. Cerebrovascular events, venous and arterial thrombosis have been described in patients with CCHD [N. Ammash, C.A. Warnes. Cerebrovascular events in adult patients with cyanotic congenital heart disease. J Am Coll Cardiol Sep 1996;28(3):768-772]. We present a case of the native aortic valve thrombosis in an adult patient with a complex cyanotic congenital heart lesion which led to sudden death.

Size of PFO and amount of microembolic signals in patients with ischaemic stroke or TIA.

BACKGROUND AND PURPOSE: The inter-relation between the size of patent foramen ovale (PFO) by transesophageal echocardiography (TEE) and the amount of microembolic signals (MES) on transcranial doppler (TCD) is still not determined. METHODS: The study group comprised of 104 patients with first-ever ischaemic stroke or transient ischemic attack (TIA). Three groups were formed according to the amount of MES on TCD: a small amount of MES (0-10 MES); a moderate amount of MES (countable MES higher than 10); and multiple MES. RESULTS: According to TEE, there were 52 patients (50%) with a small PFO, 37 patients (35.6%) with a moderate PFO, and 15 patients (14.4%) with a large PFO. There were 48 patients (46.1%) with a small amount of MES, 34 patients (32.7%) with a moderate amount of MES, and 22 patients (21.1%) with multiple MES on TCD. A strong relationship between the size of the PFO on TEE and the amount of MES on contrast transcranial Doppler was found (P < 0.0001), such that the larger the PFO on TEE, the greater the amount of MES on TCD. CONCLUSIONS: There is a high correlation between the size of the PFO on TEE and the amount of MES on TCD in stroke and TIA patients.

Neonatal atrial fibrillation after surgical repair of tracheoesophageal fistula with esophageal atresia.

Atrial fibrillation is rare in childhood that had not been reported in neonates with normal cardiac morphology and function. The authors present a newborn who underwent surgical repair of a tracheoesophageal fistula with esophageal atresia at the age of 2 days and experienced atrial fibrillation 16 days after the procedure. A report of 35 pediatric patients in a single center over a period of 22 years identified atrial fibrillation in children with a variety of ailments including congenital cardiac anomalies before and after corrective surgery, rheumatic valve disease, Marfan's syndrome with mitral regurgitation, infective endocarditis, cardiomyopathy, endocardial fibroelastosis, paroxysmal atrial tachycardia of infants, and cardiac tumors [2]. All these patients had underlying cardiac disease.

Combined percutaneous coronary intervention and atrial septal defect closure in an adult patient.

A case of combined percutaneous coronary intervention and ostium secundum atrial septal defect closure in an elderly patient is reported. The procedure was successful and uneventful. The report demonstrates feasibility of combined percutaneous revascularization and intra- atrial shunt closure even in advanced age.

Determination of 234U/238U ratio: comparison of multi-collector ICPMS and ICP-QMS for water, hair and nails samples, and comparison with alpha-spectrometry for water samples.

The (234)U/(238)U ratio in water, hair and nails samples was determined by multi-collector inductively coupled plasma mass spectrometry (MC-ICPMS) and inductively coupled plasma quadrupole mass spectrometry (ICP-QMS) and by alpha-spectrometry for the water samples only. A correlation of 0.99 was found between the two ICPMS methods and of 0.98 with alpha-spectrometry. The range of activity ratios was between 0.9 and 2.6 according to the MC-ICPMS measurements. The reproducibility of both ICPMS techniques was better than 4% for water samples containing 1 mug l(-1) of uranium and a (234)U/(238)U atom ratio of 54.9 x 10(-6). Sample preparation for the ICPMS consisted of dilution of water samples containing >10 microg l(-1) of uranium and measurement time was approximately 1 min, while alpha-spectrometry involved pre-concentration and separation of the uranium and counting times of 1,000 min.

Measurement of the 234U/238U ratio by MC-ICPMS in drinking water, hair, nails, and urine as an indicator of uranium exposure source.

The isotopic ratio (234)U/(238)U in drinking water and in hair, toenail, and urine samples from 45 individuals who consumed 0.2-2775 microg d(-1) of uranium in their drinking water was determined using a multi-collector inductively coupled plasma mass spectrometer (MC-ICPMS). The U/U atom ratio in the water samples varied from 51 x 10(-6) to 252 x 10(-6) whereas in secular equilibrium (i.e., unity activity ratio) the ratio is 54.9 x 10(-6). The correlation of the (234)U/(238)U ratio between hair and nail samples was 0.98, and between hair and nails and urine the ratio was 0.91 and 0.89, respectively. The correlation of the ratio between water and the hair or nails was 0.97 but only 0.72 for water and urine, possibly due to spectral interferences. These results conclusively demonstrated that the uranium found in the bioassays can be traced to the drinking water, thus providing a direct link to the source of exposure. Hair may serve as an excellent indicator of occupational or environmental exposure to uranium and provide information regarding its source. Bioassay of hair is attractive as it is an effective bio-concentrator, samples can be easily stored, the concentration reflects an integrated value, and, finally, the measurement of the (234)U/(238)U isotopic ratio in digested hair samples by MC-ICPMS is feasible and highly informative. Hair bioassay can also be used to assess exposure to depleted uranium long after the subjects have left the area suspected of contamination.

Urine, hair, and nails as indicators for ingestion of uranium in drinking water.

The concentration of uranium in urine, hair, and nails due to continuous exposure through ingestion of drinking water was studied. The study population consisted of 205 individuals living in 134 different households in southern Finland where drinking water is supplied from private drilled wells. The population was selected to include a broad range of uranium daily intake from drinking water (0.03-2,775 microg d). The uranium content in drinking water, urine (overnight collection), hair and nails was determined by ICPMS. Uranium in urine was corrected for the matrix effects by use of thallium as an internal standard and adjusted by creatinine normalization. Hair and toenail samples were rinsed to remove external contamination prior to acid digestion and analysis. The uranium content in all excretion pathways was correlated with the uranium intake, particularly at elevated levels (> or =10 microg d) where drinking water was the major source of exposure to uranium. The median of the individual uranium absorption factors for urine, hair, and toenails were fu=0.003, fh=0.003, and fn=4 x 10, respectively. The association between the different bioassays was examined. The absorption factor, f1, was calculated for the population with an intake above 10 microg d and was below 0.01 for 72% of the study persons (range 0.0002 to 0.070). No statistically significant difference in f1 values was found between women and men. However, the absorption factor was higher among younger (< 60 y) than older (> or =60 y) subjects and among people with a lower exposure (below 100 microg d) than among those that ingest over 100 microg d.

Severe hypoxemia in a patient with acute myocardial infarction.

A case report of a patient with acute myocardial infarction and severe hypoxemia due to acute right to left interatrial shunt (RLIAS) is presented. Diagnostic and therapeutic procedures are discussed.

Right ventricular diastolic dysfunction and patent foramen ovale causing profound cyanosis.

A 73 year old woman presented with profound central cyanosis and a history of a minor stroke. She had normal heart morphology, normal pulmonary artery pressure, and a normal coronary angiography. A patent foramen ovale (PFO) with a massive right to left shunt was demonstrated at the atrial level, with normal pulmonary venous saturations and PO2 values. This rare, age related case of right ventricular diastolic dysfunction in a normotensive patient revealed a generous PFO allowing a pronounced right to left shunt.

Percutaneous transaortic occlusion of patent ductus arteriosus using a new versatile angiographic and delivery catheter.

We evaluated the usefulness of patent ductus arteriosus (PDA) occlusion using a new catheter that combines good angiographic properties, easy manipulation across the duct, documentation of aortic and pulmonary artery pressure, and coil delivery for percutaneous transaortic ductal occlusion. Thirty patients (13 females and 17 males) who met the clinical and echocardiographic criteria for the percutaneous closure of PDA were catheterized. The patients selected for this study had a small to moderate PDA with a conal or tubular shape, adequate aortic ampula, and normal or mildly elevated pulmonary artery pressure. The median age was 4.8 years (range, 10 months-20 years). Patients were catheterized by the transaortic approach using the new angiographic and coil delivery catheter specially designed for this procedure. A PDA was closed in every case. A single DuctOcclud pfm coil was delivered in 28 patients, and 2 patients had NitOcclud pfm coils for ductal occlusion. The screening time was measured and found to be 50% less than the measured screening time using other catheters in our laboratory. Only one catheter and one guidewire were used per procedure, with no need for exchange wires or the establishment of an arteriovenous loop. The procedure time was also reduced by 50%. A minimal residual shunt, demonstrated by color-flow Doppler mapping, was present in 2 patients. The new combined angiographic and coil delivery catheter is most suitable for transaortic PDA coil occlusion, significantly decreasing the procedure and screening time.

Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome.

Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment. Other features of this syndrome gradually develop. We describe three TRMA patients with heart rhythm abnormalities and structural cardiac anomalies. Eight other reported TRMA patients also had cardiac anomalies. Recently, the TRMA gene, SLC19A2, was identified, encoding a functional thiamine transporter. Characterization of the metabolic defect of TRMA may shed light on the role of thiamine in common cardiac abnormalities.

A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.

Catecholamine-induced polymorphic ventricular tachycardia (PVT) is characterized by episodes of syncope, seizures, or sudden death, in response to physical activity or emotional stress. Two modes of inheritance have been described: autosomal dominant and autosomal recessive. Mutations in the ryanodine receptor 2 gene (RYR2), which encodes a cardiac sarcoplasmic reticulum (SR) Ca(2+)-release channel, were recently shown to cause the autosomal dominant form of the disease. In the present report, we describe a missense mutation in a highly conserved region of the calsequestrin 2 gene (CASQ2) as the potential cause of the autosomal recessive form. The CASQ2 protein serves as the major Ca(2+) reservoir within the SR of cardiac myocytes and is part of a protein complex that contains the ryanodine receptor. The mutation, which is in full segregation in seven Bedouin families affected by the disorder, converts a negatively charged aspartic acid into a positively charged histidine, in a highly negatively charged domain, and is likely to exert its deleterious effect by disrupting Ca(2+) binding.

Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21.

BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (PVT) is characterized by episodes of syncope, seizures, or sudden death in response to physiological or emotional stress. In 2 families with autosomal dominant inheritance, the disease gene was mapped to chromosome 1q42-43. The objectives of this study were to characterize the clinical features of the disease in a Bedouin tribe from Israel and to map the disease gene. METHODS AND RESULTS: In this Bedouin tribe, 9 children (age, 7+/-4 years) from 7 related families have died suddenly during the past decade, and 12 other children suffered from recurrent syncope and seizures starting at the age of 6+/-3 years. Parents of affected individuals were asymptomatic and were all related (first-, second-, or third-degree cousins). Segregation analysis suggested autosomal recessive inheritance. All 12 symptomatic patients and 1 asymptomatic sibling (mean age, 13+/-7 years) were found to have a relative resting bradycardia (64+/-13 bpm, versus 93+/-12 bpm in the unaffected siblings), as well as PVT induced by treadmill or isoproterenol infusion and appearing at a mean sinus rate of 110+/-10 bpm. Patients responded favorably to treatment with beta-blockers. A genome-wide search using polymorphic DNA markers mapped the disease locus to a 16-megabase interval on chromosome 1p13-21. A maximal lod score of 8.24 was obtained with D1S189 at theta=0.00. Sequencing of KCND3, a gene that encodes an I(tO) potassium channel transporter, did not reveal any significant sequence alterations. CONCLUSIONS: This unique form of autosomal recessive PVT affects young children and may be lethal if left untreated. Linkage analysis maps this disorder to chromosome 1p13-21.

[Long-term sequelae of malignant tumors in childhood: consequences of late side-effects].

110 children with malignant diseases (leukemia excepted) who survived 5-20 years (median 9) post-therapy were followed (1996-1998). Median age during follow-up was 15 years (range 5-23). The most common malignancies were brain tumors, lymphoma, retinoblastoma and Wilm's tumor. The 174 late side-effects included endocrine disorders (19%), cognitive impairment (14%), orthopedic dysfunction (12%), alopecia (12%), dental damage (11%), psychological (8%) and neurological (8%) disturbances, and azoospermia or amenorrhea (5%). There was no cardiac or renal damage and no second malignancy. 29% of side-effects were severe. There was significant reduction in quality of life in 54 (49%), in 27 of whom it was severe enough to require psychological intervention. Treatment of brain tumor caused 98 late side-effects in 28 patients (sequelae-to-patient ratio [SPR] 3.3). Most cognitive, endocrine and neurological disorders, and most cases of alopecia, dental and psychological difficulties were in these patients. There were frequent late complications in those treated for retinoblastoma (SPR 1.8), and bone or soft tissue sarcomas (SPR 0.8). Those treated for Wilm's tumor had few side-effects (SPR 0.4). Late side effects were most frequent after radiation, reaching as high as SPR 2.4. It averaged only 0.5 in those treated with chemotherapy alone or in combination with surgery. Reduction of late side-effects in these patients requires using less toxic modalities, as long as cure rate is not compromised. When considering secondary strategies, screening for early detection of late complications would enable immediate solutions, such as hormonal replacement or providing compensating skills for post-treatment disability.