Heart and Aorta Anomalies in Turner Syndrome and Relation with Karyotype.

OBJECTIVES: Turner Syndrome (TS) is associated with a high risk of cardiac anomalies and cardiovascular disease. We aimed to evaluate patients with TS (n=33) for cardiac and aortic pathology using thorax magnetic resonance angiography (MRA). SUBJECTS AND METHODS: Clinical findings, karyotypes, echocardiogram (ECHO) findings and thorax MRA results were evaluated. Aortic dimensions were measured and standard Z scores of aortic diameters along with aortic size index (ASI) were calculated. RESULTS: Mean age of the patients was 13.7±3.4 years. MRA revealed cardiovascular pathology in 10 patients (30%). CoA (n=4), aberrant right subclavian artery (n=3), dilatation of the ascending aorta (n=1), tortuosity of the descending aorta (n=1) and fusiform dilatation of the left subclavian artery (n=1) were found. Two of the four patients with CoA found on MRA were detected with ECHO. Mean diameter of the sinotubular junction was found to be elevated [mean±SD: 2.4±1.5]. Z scores for the diameters of the isthmus, ascending aorta and descending aorta were in normal ranges. 45,X patients were found to have significantly higher ASI values than non 45,X patients (p=0.036). CONCLUSION: Our findings indicate that patients with TS should be evaluated with MR imaging studies in addition to ECHO to reveal additional subtle cardiac and vascular anomalies. CoA which is very distally located or which has mild nature may not be seen by ECHO. The increase in ASI observed in 45,X patients may herald the development of life-threatening complications. Therefore, frequent follow-up is warranted in these patients.

Modified central aortopulmonary shunt with end-to-end anastomosis of the shunt to the pulmonary trunk: Early results of a novel shunt procedure for first-stage palliation of infants with pulmonary atresia and hypoplastic pulmonary arteries.

OBJECTIVE: The aim was to investigate a novel palliative shunt performed between the ascending aorta and the main pulmonary artery in patients with pulmonary atresia. PATIENTS AND METHODS: Thirteen patients with intracardiac defects [tetralogy of Fallot (seven patients); tetralogy of Fallot and major aortopulmonary collateral arteries (one patient); ventricular septal defect and major aortopulmonary collateral arteries (two patients); tricuspid atresia (three patients)] and pulmonary atresia underwent shunt operation. Patient selection was made based on preoperative echocardiography and perioperative findings. Eight of the patients were female and five were male. Ages and weight ranged between 1-235 days and 2,950-7,900 g, respectively. Preoperative room air oxygen saturation ranged between 68-83 %. RESULTS: Operations were performed through a median sternotomy. The main pulmonary artery was transected from the right ventricular outflow tract and using a 3-3.5 mm diameter graft, a modified central aortopulmonary shunt was created (graft anastomosis was end-to-end to the pulmonary artery and side-to-side to the aorta). Postoperative oxygen saturation increased 5-10% and diastolic blood pressure decreased by 3-6 mmHg. One hospital mortality occurred, due to sepsis, and two late deaths, one due to pneumonia and one sudden death, occurred in the follow-up period. Patients were followed up for 3-16 months after the operations. During the follow-up period four patients received corrective operations, one unifocalization and three total corrections. CONCLUSION: Modified central aortopulmonary shunt with end-to-end anastomosis of the shunt to the pulmonary trunk is a novel palliative shunt operation. Our early results with this technique indicate rapid palliation and early achievement of bilateral homogenous adequate pulmonary artery size with a low incidence of overflow to pulmonary circulation and minimal arterial distortion.

Use of a bifurcated ePTFE graft for off-pump extracardiac Fontan completion.

A 6-year-old girl underwent off-pump extracardiac Fontan completion. Intrapericardial inferior caval vein was found to be accompanied by the hepatic vein on the left side; a 20 x 10 x 10-mm bifurcated ePTFE graft was used without external shunting. This approach is practical for the surgeons and may result in lower perioperative Fontan pressures/transpulmonary gradients as well as a shorter intubation period and hospital stay.

Influenza a-associated acute necrotizing encephalopathy.

Acute inflammatory processes of the brain tissue and meninges caused by viruses are relatively common and may be caused by a number of different viral agents. The specific etiological agent is not identified in many instances. Most cases completely recover. The prognosis depends upon the severity of the clinical illness, the specific etiology, and the age of the child. Acute necrotizing encephalopathy (ANE) is an important clinical type of encephalitis. In recent years, many cases of ANE caused by influenza A virus infection have been reported from different Eastern and European countries. In this paper we describe a young child with influenza A-associated ANE.

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.

BACKGROUND: Desmosomes are cellular junctions important for intercellular adhesion and anchoring the intermediate filament (IF) cytoskeleton to the cell membrane. Desmoplakin (DSP) is the most abundant desmosomal protein with 2 isoforms produced by alternative splicing. METHODS: We describe a patient with a recessively inherited arrhythmogenic dilated cardiomyopathy with left and right ventricular involvement, epidermolytic palmoplantar keratoderma, and woolly hair. The patient showed a severe heart phenotype with an early onset and rapid progression to heart failure at 4 years of age. RESULTS: A homozygous nonsense mutation, R1267X, was found in exon 23 of the desmoplakin gene, which results in an isoform specific truncation of the larger DSPI isoform. The loss of most of the DSPI specific rod domain and C-terminal area was confirmed by Western blotting and immunofluorescence. We further showed that the truncated DSPI transcript is unstable, leading to a loss of DSPI. DSPI is reported to be an obligate constituent of desmosomes and the only isoform present in cardiac tissue. To address this, we reviewed the expression of DSP isoforms in the heart. Our data suggest that DSPI is the major cardiac isoform but we also show that specific compartments of the heart have detectable DSPII expression. CONCLUSIONS: This is the first description of a phenotype caused by a mutation affecting only one DSP isoform. Our findings emphasise the importance of desmoplakin and desmosomes in epidermal and cardiac function and additionally highlight the possibility that the different isoforms of desmoplakin may have distinct functional properties within the desmosome.

Can cystinosis cause coronary artery dilatation?

In children, dilated coronary arteries are usually caused by Kawasaki's disease. We report four children with dilated coronary arteries and nephropathic cystinosis.

Trans-sternal cardiac injury caused by a hooked needle.

Cardiac injuries remain the most challenging of all injuries seen in the field of trauma surgery. Penetrating injury to the heart generally occurs less frequently than blunt injury and most commonly injures the large anterior right ventricle. We present an unusual, and to our knowledge a previously unreported, cause of cardiac penetrating trauma in a child, involving a hooked needle (a 15 cm long, metallic device usually used for crocheting or lacemaking). A ventricular septal defect was managed conservatively shortly after the primary cardiorrhaphy. Evaluation methods for this rare presentation and its possible surgical treatments are discussed.