Percutaneous balloon angioplasty for severe native aortic coarctation in young infants less than 6 months: medium- to long-term follow-up / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Although balloon angioplasty (BA) has been performed for more than 20 years, its use as a treatment for native coarctation of the aorta (CoA) during childhood, especially in young infants, remains controversial. This study aimed to assess the effects and potential role of percutaneous transcatheter BA for native CoA as an alternative therapy to surgical repair in young infants.</p><p><b>METHODS</b>The 37 patients aged from 6 days to 6 months with severe CoA in congestive heart failure or circulatory shock were admitted for BA. Patient's weight ranged from 2.4 to 6.1 kg. All 37 patients were experiencing cardiac dysfunction, and eight patients were in cardiac shock with severe metabolic acidosis. Eleven patients had an isolated CoA, whereas the others had a CoA associated with other cardiac malformations. Cardiac catheterization and aortic angiography were performed under general anesthesia with intubation. Transfemoral arterial approaches were used for the BA. The size of the balloon ranged from 3 mm × 20 mm to 8 mm × 20 mm, and a coronary artery balloon catheter was preferred over a regular peripheral vascular balloon catheter.</p><p><b>RESULTS</b>The femoral artery was successfully punctured in all but one patient, with that patient undergoing a carotid artery puncture . The systolic peak pressure gradient (PG) across the coarctation was 41.0 ± 16.0 mmHg (range 13-76 mmHg). The mean diameter of the narrowest coarctation site was 1.7 ± 0.6 mm (range 0.5-2.8 mm). All patients had successful dilation; the PG significantly decreased to 13.0 ± 11.0 mmHg (range 0-40 mmHg), and the diameter of coarctation significantly improved to 3.8 ± 0.9 mm (range 2.5-5.3 mm). No intraoperative complications occurred for any patients. However, in one case that underwent a carotid artery puncture, a giant aneurysm formed at the puncture site and required surgical repair. The following observations were made during the follow-up period from 6-month to 7-year: (1) The PG across the coarctation measured by echocardiography further decreased or remained stable in 31 cases. The remaining six patients, whose PGs gradually increased, required a second dilation. No patient required further surgery because of a CoA; (2) in two cases, an aortic aneurysm was found with an angiogram performed immediately postdilatation and disappeared at 18 and 12 months of age, respectively; (3) tricuspid regurgitation and pulmonary hypertension improved in all patients; (4) all patients were doing well and were asymptomatic.</p><p><b>CONCLUSIONS</b>Percutaneous BA is a relatively safe and effective treatment for severe native CoA in young infants, and should be considered a valid alternative to surgery because of its good outcome and less trauma and fewer complications than surgery.</p>

Clinical characteristics and imaging evaluation in children with renovascular hypertension / 中华儿科杂志

<p><b>OBJECTIVE</b>To characterize the clinical and angiographic features in children with renovascular hypertension.</p><p><b>METHOD</b>Clinical data of 14 children (7 male, 7 female; age 0.8-14 years, mean 8.7 years), who were diagnosed with renovascular hypertension by renal angiography in our institute from January 2005 to December 2012 were collected and retrospectively analyzed.</p><p><b>RESULT</b>The mean blood pressure at the diagnosis was 187/127 mm Hg. Chief complaints of symptomatic patients were headache (29%, 4/14), hypertensive encephalopathy (36%, 5/14), signs of congestive heart failure (14%, 2/14) and hematemesis (7%, 1/14). Renovascular hypertension was found incidentally in 14% (2/14) of patients who were asymptomatic. Conventional renal angiography elucidated the anatomical distribution of lesions in the renal arterial system. It was found that 14% (2/14) of patients had bilateral disease, 50% (7/14) had single stenosis at main or accessory renal artery, while multiple stenoses was seen in 43% (6/14) of children, with involvement of segmental renal artery and small interlobar or arcuate vessels. Compared with catheter angiography, 50% (7/14) of patients with renovascular hypertension, especially intrarenal arterial disease, were missed on computed tomography angiography or magnetic resonance angiography.</p><p><b>CONCLUSION</b>It is mandatory to emphasize blood pressure measurement in pediatric clinical practice for early recognition of renovascular hypertension. As children with renovascular hypertension display involvement of multiple arteries, including in smaller intrarenal arteries, digital subtraction angiography is the only method that can reliably diagnose pediatric renovascular hypertension.</p>

Clinical features and molecular diagnosis of three patients with DiGeorge anomaly / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate the clinical features and molecular diagnostic methods of three patients with DiGeorge anomaly.</p><p><b>METHOD</b>The clinical manifestations and immunological features of the three cases with DiGeorge anomaly were analyzed. We detected the chromosome 22q11.2 gene deletion by fluorescence in situ hybridization (FISH).</p><p><b>RESULT</b>(1) CLINICAL MANIFESTATIONS: All three cases had varying degrees of infection, congenital heart disease and small thymus by imaging; two cases had significant hypocalcemia (1.11 mmol/L and 1.22 mmol/L, respectively), accompanied by convulsions; only 1 case had cleft palate and all had no significant facial deformity. (2) Immunological characteristics: All three cases had varying degrees of T-cell immune function defects (percentage of T lymphocytes was 24% - 43%, absolute count was 309 - 803/µl), and levels of immunoglobulin G, A, M, and percent of B lymphocytes and absolute count were normal. (3) Detection of the chromosome 22q11.2 gene deletion: 400 cells of each case were detected. All cells showed two green and one red hybridization signal, indicating the presence of gene deletions in chromosome 22q11.2. (4) OUTCOME: All three cases were treated with thymosin, and appropriate clinical intervention for cardiac malformations, hypocalcemia, and were followed-up for 4 - 18 months, the prognosis was good.</p><p><b>CONCLUSION</b>DiGeorge anomaly showed diverse clinical manifestations. We should consider the disease if patients had congenital heart disease, thymic hypoplasia, hypocalcemia and/or impaired immune function. FISH for detecting chromosome 22q11.2 gene deletion can be used as accurate and rapid diagnostic method. Thymosin treatment and other clinical intervention may help to improve the prognosis of patients with partial DiGeorge anomaly.</p>

Downregulation of Rho associated coiled-coil forming protein kinase 1 in the process of delayed myocardialization of cardiac proximal outflow tract septum in connexin 43 knockout mice embryo / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The connexin43 knockout (Cx43 KO) mouse dies at birth with an enlarged conotruncal region, which leads to the obstruction of the right outflow tract (OFT). Since myocardialization of the proximal OFT septum is one of the key events during heart development, we investigated the process in the Cx43 KO embryo hearts. Rho associated coiled-coil forming protein kinase 1 (ROCK1), is a recently found key molecule to regulate the myocardialization of OFT, but its spatiotemporal expression pattern during myocardialization remains unknown. The objective of this study was to investigate the differentially expressed pattern of ROCK1 between Cx43 KO and wild type embryo hearts, and its relationship with the delayed myocardialization in Cx43 KO embryo hearts.</p><p><b>METHODS</b>Using immunohistochemistry, the processes of myocardiolization were investigated both in Cx43 KO and wild type embryo hearts. The differentially expressed pattern of ROCK1 between Cx43 KO and wildtype embryo hearts was evaluated both at the mRNA and protein level by real-time RT-PCR and immunohistochemistry.</p><p><b>RESULTS</b>The expression of α-sarcomeric actin (α-SCA) in the proximal OFT septum of Cx43 KO embryos was delayed. Meanwhile, it was shown that the downregulation of ROCK1 coincided with delayed myocardialization. The expression of ROCK1 protein was mainly limited to the proximal outflow tract septum from embryo day (E) E11.5 to E15.5. Its expression pattern was similar with that of α-SCA. Real-time RT-PCR found that the expression level of Rock-1 mRNA began at a low level on E11.5 and reached peak at E13.5 and E14.5.</p><p><b>CONCLUSIONS</b>ROCK1 may have an important role in the process of myocardialization of the proximal OFT septum. Downregulation of ROCK1 is likely to contribute to the aberrant myocardialization in Cx43 KO embryo hearts.</p>