Meandering right pulmonary vein associated with severe and progressive "idiopathic-like" pulmonary hypertensive vascular disease.

Congenital anomalies of the pulmonary veins are rare. Meandering right pulmonary vein, considered a part of the Scimitar syndrome spectrum, is often an incidental finding during chest imaging. We present the case of a 4-year-old girl diagnosed with meandering pulmonary vein, who developed pulmonary hypertensive disease with an aggressive course, in spite of absence of hypoxia or elevated pulmonary wedge pressure.

Severe Thrombocytopenia as the Main Manifestation of Childhood-Onset Systemic Lupus Erythematosus.

Thrombocytopenia is a common hematologic abnormality of childhood-onset systemic lupus erythematosus (cSLE). Although in most cases thrombocytopenia is mild, severe thrombocytopenia with bleeding complications might occur, and is further correlated with disease activity and a worse prognosis. We report two female patients with severe thrombocytopenia as the initial manifestation of cSLE, which were successfully treated by intensive immunosuppression including several high-dose methylprednisolone pulses and IV cyclophosphamide. Both patients were initially diagnosed with idiopathic thrombopenic purpura (ITP) refractory to conventional treatment and complicated with haemorrhagic manifestations. For this matter, patients with ITP should be assessed for the presence of ANA, anti-dsDNA antibodies, and complement levels, since they are at high risk to develop cSLE.

Microscopic magnetic resonance in congenital diaphragmatic hernia and associated malformations in rats.

BACKGROUND/AIM: The research on congenital diaphragmatic hernia (CDH) is often carried out on the nitrofen fetal rat model in which most investigations involve microdissections and fastidious assessment of serial sections of different anatomic areas. Current microscopic magnetic resonance (MMR) equipment allows detailed anatomic studies of alive, fresh or fixed fetuses. The purpose of the present study was to demonstrate that CDH itself and most of the associated malformations are adequately imaged and measured by MMR. MATERIALS AND METHODS: Fetuses from pregnant rats treated with either i.g. vehicle (control, n = 10) or 100 mg nitrofen (only those with CDH, n = 18) on E9.5 were recovered on E21 (term = E22) and total body was scanned by MMR under sedation in a 7 T MRI system (Bruker Medical, Ettlingen, Germany). CDH was detected with a coronal multislice fast spin echo sequence with a long repetition time and short effective echo time. Oblique MPR and 3D reconstructions were used. All studies were processed with attention to the hernia and its contents and the structure of the tracheobronchial tree and the lung, the heart and great vessels, the thymus and cervico-thoracic vertebrae. The findings in both groups were compared. RESULTS: Congenital diaphragmatic hernia, lung hypoplasia and parenchymal features were clearly depicted. Tracheal ring anomalies were also demonstrated. The thymus was significantly smaller in CDH pups (2.9 x 1 x 2.4 mm) than in controls (4 x 1.3 x 2.8 mm) (p < 0.01). MRI was particularly performant for imaging cardiovascular anomalies: 4 double aortic arches, 3 Fallots, 3 right aortic arches, 3 ventricular septal defects and 1 aberrant subclavian artery. CONCLUSIONS: Microscopic magnetic resonance involves refined and expensive equipment but it provides a powerful research tool for the study of CDH and other malformations in rat fetuses. Further work on this area is warranted.

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions.

Most monogenic disorders have a primary clinical presentation. Inherited ISG15 deficiency, however, has manifested with two distinct presentations to date: susceptibility to mycobacterial disease and intracranial calcifications from hypomorphic interferon-II (IFN-II) production and excessive IFN-I response, respectively. Accordingly, these patients were managed for their infectious and neurologic complications. Herein, we describe five new patients with six novel ISG15 mutations presenting with skin lesions who were managed for dermatologic disease. Cellularly, we denote striking specificity to the IFN-I response, which was previously assumed to be universal. In peripheral blood, myeloid cells display the most robust IFN-I signatures. In the affected skin, IFN-I signaling is observed in the keratinocytes of the epidermis, endothelia, and the monocytes and macrophages of the dermis. These findings define the specific cells causing circulating and dermatologic inflammation and expand the clinical spectrum of ISG15 deficiency to dermatologic presentations as a third phenotype co-dominant to the infectious and neurologic manifestations.

[Risk factors for surgery of congenital heart disease in adults: twenty-two years of experience. Who should operate them?]. / Factores de riesgo asociados a la cirugía del adulto con cardiopatía congénita: 22 años de experiencia. ¿Quién debe intervenirlos?

OBJECTIVE: To assess the association between mortality in surgery of congenital heart disease in adults, and factors related to patients and operations. METHOD: Descriptive study of operations performed by specialized surgeons in congenital heart surgery (238), adult acquired surgery (117), and specialty residents (108). The association of mortality with surgical risk and complexity, specialization of surgeon, cardiopulmonary by-pass and aortic cross clamping was assessed fitting logistic regression models. RESULTS: A total of 463 operations were included (442 with cardiopulmonary by-pass) in the study performed between 1991 and 2012. Median age at surgery: 34; 52.8% were women. First surgery: 295, reoperation: 168. Median score of Aristotle was 6.8, with significantly higher complexity since 2001, after restructuring the Unit. Overall hospital mortality was 3.9%. Mortality was significantly associated to number of previous surgeries (OR: 5.02; 95%CI: 1.44-17.52), operations by acquired heart disease surgeons (OR: 3.53; 95%CI: 1.14-10.98), higher Aristotle (OR: 1,64; 95%CI: 1.18-2.29), and high cardiopulmonary by-pass time (OR: 1.13; 95%CI: 1.07-1.19). CONCLUSIONS: Surgery of congenital heart disease in adults has been performed with low mortality. High complexity interventions, prolonged cardiopulmonary by-pass times and multiple reoperations were associated to higher mortality. Participation of cardiac surgeons specialized in congenital heart disease is associated with better outcomes.

Pulmonary hypertension in bronchopulmonary dysplasia: clinical findings, cardiovascular anomalies and outcomes.

OBJECTIVE: Pulmonary hypertension (PH) worsens the prognosis of bronchopulmonary dysplasia (BPD). The following items have not been fully established for PH in BPD: clinical characterization, incidence of cardiovascular anomalies (CVAs), response to PH treatment, and outcome. STUDY DESIGN: A review of clinical records, computed tomography (CT) images and catheterization data of 36 patients with PH-BPD referred to our PH Unit (March 2006 to December 2011) was performed. Twenty-nine patients without major congenital heart defects and with complete follow-up data were included. RESULTS: The diagnosis of PH was made at a median age of 4.5 months (IQR 2.4-7.8), with an echocardiography estimated median right ventricular pressure/systemic pressure ratio of 70% (IQR 60-80%). CT scanning was performed in 21 patients and catheterization in 14 patients. CVAs were found in 19 patients (65.5%): aortopulmonary collaterals (n = 9), pulmonary vein stenosis (n = 7), ASD (n = 4), and PDA (n = 9). Hemodynamic data: PVRI 4.3 UW m(2) (2.7-7); PVRI/SVRI 0.44 (0.32-0.8); and transpulmonary gradient 28 mmHg (19-40). At a median follow-up of 35 months (IQR 21-91), 6 patients had undergone shunts closure, 22 received specific PH drugs, 3 spontaneously improved of their PH, and 8 (26%) had died. CONCLUSION: PH in BPD is not always a transient condition; it can be diagnosed at later stages and can have a protracted course. The incidence of associated CVAs is high. Prompt diagnosis, detection, and treatment of CVAs, and specific drug therapy can improve the outcome in these patients, although the mortality rate remains high.

Factores de riesgo asociados a la cirugía del adulto con cardiopatía congénita: 22 años de experiencia. ¿Quién debe intervenirlos? / Risk factors for surgery of congenital heart disease in adults: Twenty-two years of experience. Who should operate them?

Objetivo: Analizar la asociación entre mortalidad en cirugía de cardiopatías congénitas del adulto y los factores relacionados con el paciente y la intervención. Método: Estudio descriptivo de intervenciones por cirujanos con actividad habitual en cardiopatías congénitas (238), cardiopatías adquiridas (117) y residentes (108). Se evaluó la asociación de la mortalidad con el riesgo y complejidad quirúrgica, actividad habitual del cirujano, y tiempo de circulación extracorpórea y de pinzamiento aórtico, mediante modelos de regresión logística. Resultados: Se incluyeron 463 cirugías (442 con circulación extracorpórea) entre 1991 y 2012. Edad mediana de intervención: 34 años (52.8% mujeres); primera cirugía 295, reintervención 168. La puntuación mediana del Aristóteles fue 6.8, con complejidad significativamente mayor tras reestructurarse la Unidad en 2001. La mortalidad hospitalaria total fue del 3.9%. La mortalidad se asoció significativamente al número de intervenciones previas (OR: 5.02; IC 95%: 1.44-17.52), intervenciones por cirujanos de cardiopatía adquirida (OR: 3.53; IC 95%: 1.14-10.98), Aristóteles alto (OR: 1,64; IC 95%: 1.18-2.29), y tiempos prolongados de extracorpórea (OR: 1.13; IC 95%: 1.07-1.19). Conclusiones: La mortalidad en cirugía de cardiopatía congénita en adultos es baja. Las intervenciones de alta complejidad, tiempos elevados de extracorpórea y múltiples reintervenciones se asocian con mayor mortalidad. La participación de cirujanos especialistas en cardiopatías congénitas se asocia con mejores resultados.

Objective: To assess the association between mortality in surgery of congenital heart disease in adults, and factors related to patients and operations. Method: Descriptive study of operations performed by specialized surgeons in congenital heart surgery (238), adult acquired surgery (117), and specialty residents (108). The association of mortality with surgical risk and complexity, specialization of surgeon, cardiopulmonary by-pass and aortic cross clamping was assessed fitting logistic regression models. Results: A total of 463 operations were included (442 with cardiopulmonary by-pass) in the study performed between 1991 and 2012. Median age at surgery: 34; 52.8% were women. First surgery: 295, reoperation: 168. Median score of Aristotle was 6.8, with significantly higher complexity since 2001, after restructuring the Unit. Overall hospital mortality was 3.9%. Mortality was significantly associated to number of previous surgeries (OR: 5.02; 95%CI: 1.44-17.52), operations by acquired heart disease surgeons (OR: 3.53; 95%CI: 1.14-10.98), higher Aristotle (OR: 1,64; 95%CI: 1.18-2.29), and high cardiopulmonary by-pass time (OR: 1.13; 95%CI: 1.07-1.19). Conclusions: Surgery of congenital heart disease in adults has been performed with low mortality. High complexity interventions, prolonged cardiopulmonary by-pass times and multiple reoperations were associated to higher mortality. Participation of cardiac surgeons specialized in congenital heart disease is associated with better outcomes.