Quadricuspid aortic valve (QAV) is a rare congenital heart disease. The functional status of QAV is predominantly a pure aortic regurgitation. Clinical manifestations of patients with a QAV depend on the functional status of the QAV and the associated disorders. Significant valvular regurgitation and (or) stenosis is often present with subsequent operation performed at the fifth to sixth decade of life. The functional status of QAV is predominantly regurgitant; whereas pure stenotic QAV can be as few as in only 0.7% of the patients. QAV is usually an isolated anomaly, but other congenital heart defects can be present in 18-32% of the patients. About one-fifth of them require a surgical operation. Tricuspidalization is a preferred technique for QAV repair. As not all the patients with a QAV necessarily warrant a surgical operation, decision-making in patient selection and surgical procedure of choice are crucial. Antibiotic prophylaxis against infective endocarditis is necessary in the QAV patients with unequal-sized cusps.

Aberrant origin of vertebral artery is rare. The anatomical features and clinical significance of this lesion remain to be clarified. A comprehensive collection of the pertinent literature resulted in a cohort of 1286 cases involving 955 patients and 331 cadavers. There were more left than right and more unilateral than bilateral aberrant vertebral arteries. Patients with aberrant origin of vertebral artery were often asymptomatic and in only 5.5% of the patients their symptoms were probably related to the aberrant origin of vertebral artery. The acquired cardiovascular lesions were present in 9.5% of the patients, 20.9% of which were vertebral artery-associated lesions. Eight (0.8%) patients had a vertebral artery dissection. Logistic regression analysis showed significant regressions between bovine trunk and left vertebral artery (P=0.000), between the dual origins of vertebral artery and cerebral infarct/thrombus (P=0.041), between associated alternative congenital vascular variants and cervical/aortic dissection/atherosclerosis (P=0.008). Multiple logistic regression demonstrated that side of the aberrant origin of vertebral artery (left vertebral artery) (P=0.014), arch branch pattern (direct arch origin) (P=0.019), presence of the common trunk (P=0.019), associated acquired vascular disorder (P=0.034) and the patients who warranted management (P=0.000) were significant risk predictors for neurological sequelea. The patients with neurological symptoms and those for neck and chest operations/ interventions should be carefully screened for the possibility of an aberrant origin of vertebral artery. The results from the cadaver metrology study are very helpful in the design of the aortic stent. The arch branch pattern has to be taken into consideration before any maneuver in the local region so as to avoid unexpected events in relation to aberrant vertebral artery.

IntroductionCongenital left ventricular to right atrial (LV-RA) shunt (Gerbode defect) is rare, while acquired LV-RA shunt has been increasingly reported. As yet, systematically incorporated data of the LV-RA shunt have not been presented.AimTo present the clinical features, diagnostic challenge and management strategies of congenital and acquired LV-RA shunts.Material and methodsThe data source was based on a comprehensive literature retrieval of the LV-RA shunt in the period 1990–2013.ResultsIn comparison with the acquired Gerbode defect, the congenital Gerbode defect group of patients were younger and were associated more often with additional congenital disorders. Previous cardiac surgery and infective endocarditis were the two major aetiologies of the occurrence of the acquired shunts. Paravalvular abscess was associated in 10.2% and atrioventricular block in 13.6% of the acquired group patients. Transoesophageal echocardiography showed a higher diagnostic accuracy, lower missed diagnosis and lower inclusive diagnosis rates, in comparison to transthoracic echocardiography, but the misdiagnosis rates of the two modalities did not differ from each other. Four (4.5%) of the acquired group patients were complicated by atrioventricular block following surgical or interventional closure of the shunt. Eight (9.1%) patients died in the acquired group, but no patient died in the congenital group.ConclusionsThe diagnosis of an LV-RA shunt is quite challenging, especially in the context of coexisting abnormalities including an additional intracardiac shunt, tricuspid regurgitation, pulmonary artery hypertension and infective endocarditis, which have to be carefully differentiated from the shunt by further investigations. A better control of infective complications and careful manoeuvres during surgery may help to keep the LV-RA-sensitive septum intact.

To the best of our knowledge, this is the first report identifying as the causative gene for human NOA and POI. Furthermore, our pedigree analysis shows an autosomal recessive mode of inheritance for NOA and POI caused by in this family.

Artigo recebido em 1 de novembro de 2010 Artigo aprovado em 11 de janeiro de 2011 ResumoA necrose cística da média (NCM) é uma desordem das grandes artérias, em particular a aorta, caracterizada por acúmulo de substância basofílica na camada média com lesões císticas-símile. É sabido que a NCM ocorre em certas doenças do tecido conjuntivo tal como síndrome de Marfan, síndrome de Ehlers-Danlos, e ectasia ânulo-aórtica, que normalmente resulta de mudanças degenerativas na parede aórtica. A relação entre NCM e defeitos congênitos do coração, assim como outras desordens, tem sido evidenciada. Os mecanismos são ainda controversos, embora muitos estudos moleculares tenham sido conduzidos. O objetivo do presente artigo é fornecer uma visão geral da NCM em termos de características patológicas, implicações clínicas e etiologia baseada em resultados de pesquisa molecular. Descritores

ObjectiveThe clinical features of cardiac myxoma stroke have not been sufficiently described. Debates remain concerning the options and timing of treatment and the clinical outcomes are unknown. This article aims to highlight the pertinent aspects of this rare condition.MethodsData source of the present study came from a comprehensive literature collection of cardiac myxoma stroke in PubMed, Google search engine and Highwire Press for the year range 2000-2014.ResultsYoung adults, female predominance, single cerebral vessel (mostly the middle cerebral artery), multiple territory involvements and solitary left atrial myxoma constituted the outstanding characteristics of this patient setting. The most common affected cerebral vessel (the middle cerebral artery) and areas (the basal ganglion, cerebellum and parietal and temporal regions) corresponded well to the common manifestations of this patient setting, such as conscious alteration, ataxia, hemiparesis and hemiplegia, aphasia and dysarthria. Initial computed tomography scan carried a higher false negative rate for the diagnosis of cerebral infarction than magnetic resonance imaging did. A delayed surgical resection of cardiac myxoma was associated with an increased risk of potential consequences in particular otherwise arterial embolism. The mortality rate of this patient population was 15.3%.ConclusionCardiac myxoma stroke is rare. Often does it affect young females. For an improved diagnostic accuracy, magnetic resonance imaging of the brain and echocardiography are imperative for young stroke patients in identifying the cerebral infarct and determining the stroke of a cardiac origin. Immediate thrombolytic therapy may completely resolve the cerebral stroke and improve the neurologic function of the patients. An early surgical resection of cardiac myxoma is recommended in patients with not large territory cerebral infarct.

Acute kidney injury (AKI) is a common complication of pediatric cardiac surgery and is associated with increased morbidity and mortality. Literature of AKI after pediatric cardiac surgery is comprehensively reviewed in terms of incidence, risk factors, biomarkers, treatment and prognosis. The novel RIFLE (pediatric RIFLE for pediatrics), Acute Kidney Injury Network (AKIN) and Kidney Disease Improving Global Outcomes (KDIGO) criteria have brought about unified diagnostic standards and comparable results for AKI after cardiac surgery. Numerous risk factors, either renal or extrarenal, can be responsible for the development of AKI after cardiac surgery, with low cardiac output syndrome being the most pronounced predictor. Early fluid overload is also crucial for the occurrence of AKI and prognosis in pediatric patients. Three sensitive biomarkers, neutrophil gelatinase-associated lipocalin, cystatin C (CysC) and liver fatty acid-binding protein, are regarded as the earliest (increase at 2-4 h), and another two, kidney injury molecule-1 and interleukin-18 represent the intermediate respondents (increase at 6-12 h after surgery). To ameliorate the cardiopulmonary bypass techniques, improve renal perfusion and eradicate the causative risk factors are imperative for the prevention of AKI in pediatric patients. The early and intermediate biomarkers are helpful for an early judgment of occurrence of postoperative AKI. Improved survival has been achieved by prevention, renal support and modifications of hemofiltration techniques. Further development is anticipated in small children.

Fetal primary cardiac tumors are rare, but they may cause complications, which are sometimes life threatening, including arrhythmias, hydrops fetalis, ventricular outflow/inflow obstruction, cardiac failure, and even sudden death. Among fetal primary cardiac tumors, rhabdomyomas are most common, followed by teratomas, fibromas, hemangiomas, and myxomas. Everolimus, a mammalian target of rapamycin inhibitor, has been reported to be an effective drug to cause tumor remission in three neonates with multiple cardiac rhabdomyomas. Neonatal cardiac surgery for the resection of primary cardiac tumors found by fetal echocardiography has been reported sporadically. However, open fetal surgery for pericardial teratoma resection, which was performed successfully via a fetal median sternotomy in one case report, could be a promising intervention to rescue these patients with large pericardial effusions. These recent achievements undoubtedly encourage further development in early management of fetal cardiac tumors. Owing to the rarity of fetal primary cardiac tumors, relevant information in terms of prenatal diagnosis, treatment, and prognosis remains to be clarified.