Denver Sallee

Association between cardiac tumors and tuberous sclerosis in the fetus and neonate

A retrospective review was performed in 94 patients with > or =1 cardiac tumors seen on prenatal or neonatal echocardiography at 5 major referral centers. Tuberous sclerosis was present in 68 patients diagnosed with a cardiac tumor in utero or during the neonatal period, including 61 of 64 with multiple tumors.

Hemodynamic predictors of aortic dilatation in bicuspid aortic valve by velocity-encoded cardiovascular magnetic resonance

BackgroundCongenital Bicuspid Aortic Valve (BAV) is a significant risk factor for serious complications including valve dysfunction, aortic dilatation, dissection, and sudden death. Clinical tools for identification and monitoring of BAV patients at high risk for development of aortic dilatation, an early complication, are not available.MethodsThis paper reports an investigation in 18 pediatric BAV patients and 10 normal controls of links between abnormal blood flow patterns in the ascending aorta and aortic dilatation using velocity-encoded cardiovascular magnetic resonance. Blood flow patterns were quantitatively expressed in the angle between systolic left ventricular outflow and the aortic root channel axis, and also correlated with known biochemical markers of vessel wall disease.ResultsThe data confirm larger ascending aortas in BAV patients than in controls, and show more angled LV outflow in BAV (17.54 ± 0.87 degrees) than controls (10.01 ± 1.29) (p = 0.01). Significant correlation of systolic LV outflow jet angles with dilatation was found at different levels of the aorta in BAV patients STJ: r = 0.386 (N = 18, p = 0.048), AAO: r = 0.536 (N = 18, p = 0.022), and stronger correlation was found with patients and controls combined into one population: SOV: r = 0.405 (N = 28, p = 0.033), STJ: r = 0.562 (N = 28, p = 0.002), and AAO r = 0.645 (N = 28, p < 0.001). Dilatation and the flow jet angle were also found to correlate with plasma levels of matrix metallo-proteinase 2.ConclusionsThe results of this study provide new insights into the pathophysiological processes underlying aortic dilatation in BAV patients. These results show a possible path towards the development of clinical risk stratification protocols in order to reduce morbidity and mortality for this common congenital heart defect.

Tricuspid regurgitation in patients with repaired Tetralogy of Fallot and its relation to right ventricular dilatation

In a cohort of 56 school-aged children with repaired tetralogy of Fallot, significant (moderate to severe) tricuspid regurgitation was common (32% of patients) and was related to both tricuspid annulus dilatation and structural valve abnormalities that were potentially related to previous surgery. Even after adjusting for pulmonary regurgitation, tricuspid regurgitation was significantly correlated with right ventricular volume (r= 0.39, p = 0.009), suggesting that tricuspid regurgitation as well as pulmonary regurgitation may contribute significantly to progressive right ventricular dilatation in this population.

PULMONARY VALVE REPLACEMENT AFTER TETRALOGY OF FALLOT REPAIR IN PREADOLESCENT PATIENTS

BACKGROUND After tetralogy of Fallot (TOF) repair, severe pulmonary insufficiency is known to impair biventricular function. Pulmonary valve replacement (PVR) alleviates symptoms, normalizes right ventricular volumes, and improves ventricular function. Most studies addressing the role of PVR have examined older adolescents or adults. Less is known about the potential benefits of PVR in preadolescents with TOF and significant right ventricular dilatation. METHODS We reviewed the clinical data for all preadolescents (< or = 13 years) with TOF who underwent cardiac magnetic resonance imaging (cMRI) or PVR, or both. Serial cMRI data were analyzed to determine the change in indexed right ventricular end-diastolic volume (RVEDV) and biventricular ventricular ejection fractions. Available cMRI data after PVR were compared with data before PVR. RESULTS During the study period, 101 preadolescents with TOF had cMRI. The median age of complete repair was 6 months (range, 6 days to 3.4 years). The mean RVEDV at the first study was 135 +/- 39 mL/m(2). For 32 with serial cMRI studies, the RVEDV increased at a mean yearly rate of 9 mL/m(2). Ventricular systolic function was impaired in 46 (46%). Forty-two patients underwent PVR at a mean age of 8 +/- 3 years. No hospital deaths occurred, and no pulmonary valve reinterventions have been required. CONCLUSIONS Significant right ventricular dilatation is common in preadolescents after transannular patch repair of TOF. Routine follow-up of this population should incorporate cMRI. Further studies will be needed to determine whether a strategy of early PVR might improve intermediate-term outcome.

Hemodynamic and electrocardiographic effects of early pulmonary valve replacement in pediatric patients after transannular complete repair of tetralogy of Fallot.

In adults, pulmonary value replacement (PVR) shows improvement in right ventricular (RV) volume and function and reduces QRS duration. In addition, RV volume correlates with QRS duration and QRS change. This has not been shown in pediatric patients. The purpose of this study was to evaluate serial magnetic resonance imaging (MRI) and electrocardiogram measurements before and after early PVR in a pediatric population with repaired Tetralogy of Fallot and whether QRS duration and QRS change correlated with RV volume. A retrospective review of MRIs and electrocardiograms was conducted on 10 patients. Median age at repair was 2.1 ± 0.7 years, and median age at PVR was 11.5 ± 2.0 years. There were significant decreases in RV end diastolic volume (EDV)/body surface area (BSA) (p < 0.0004), end systolic volume (ESV)/BSA (p = 0.02), RVEDV/left ventricular (LV) EDV (p < 0.001), RV ejection fraction (p < 0.04), RV stroke volume (SV)/BSA (p < 0.0002), and (RVSV - LVSV)/BSA (p = 0.0007). No significant change in QRS duration occurred (p = 0.08). QRS duration (pre-r = 0.44, p = 0.20; post-r = 0.34, p = 0.33) and QRS change (r = −0.08, p = 0.83) did not correlate with RVEDV. We propose early consideration of PVR in pediatric patients. PVR improves RV volumes and function and may provide beneficial electromechanical effects by slowing the progression of QRS duration.

Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature

Mutations in the EFEMP2 (alias FBLN4) gene, which encodes the extracellular matrix protein fibulin-4, lead to severe aortopathy with aneurysm formation and vascular tortuosity. The disease phenotype, termed autosomal recessive cutis laxa type 1B (ARCL 1B), is rare among heritable connective tissue diseases but becomes more likely when noting family consanguinity and loose, inelastic skin in the patient. Our patient presented with an intercurrent illness exacerbating upper airway obstruction due to compression from a large aortic aneurysm. Genetic testing eventually revealed the causative mutation. She was initially treated with an angiotensin II receptor blocker and beta-blocker and eventually underwent total thoracic aortic replacement via a two-stage elephant trunk-type procedure. She recovered well and is currently asymptomatic but will require lifetime follow-up due to residual vascular tortuosity and aneurysm risk. Conclusion: Better understanding of the importance of transforming growth factor beta signaling in the pathophysiology of aortopathies such as ARCL 1B has led to targeted medical therapies. Specific surgical techniques can lead to optimal outcomes in these patients.

“PINOT”: Time-resolved parallel magnetic resonance imaging with a reduced dynamic field of view

This article introduces a novel method named “Parallel Imaging and Noquist in Tandem” (PINOT) for accelerated image acquisition of cine cardiac magnetic resonance imaging. This method combines two prior information formalisms, the SPACE‐RIP implementation of parallel imaging and the Noquist method for reduced‐data image reconstruction with prior knowledge of static and dynamic regions in the field of view. The general theory is presented, and supported by results from experiments using time‐resolved two‐dimensional simulation data and retrospectively sub‐sampled magnetic resonance imaging data with acceleration factors around 4. A signal‐to‐noise ratio analysis and a comparison study with TSENSE and k‐t SENSE show that PINOT performs favorably in preserving edge detail, at a cost in signal‐to‐noise ratio and computational complexity. Magn Reson Med, 2010.

Detection of a Coronary Artery Anomaly after a Sudden Cardiac Arrest in a 17 Year-old with D-transposition of the Great Arteries Status Post Arterial Switch Operation: A Case Report

Long-term follow-up and testing for patients who have undergone congenital heart surgery is an evolving field. We report the case of a 17-year-old patient who had an arterial switch operation as an infant for d-transposition of the great vessels and suffered sudden cardiac arrest while participating in a cross-country event. Previous evaluations, including a cardiac catheterization and stress testing, did not indicate any identifiable abnormalities. After the arrest, a computed tomography angiogram of his chest showed an abnormal takeoff of the reimplanted left coronary artery.

Isolated Innominate Artery From the Main Pulmonary Artery in DiGeorge Syndrome

![Figure][1] ![Figure][1] [![Graphic][3] ][3] Suprasternal View Showing the Ascending Aorta in Short Axis The main pulmonary artery (MPA) is seen, with the isolated innominate artery (IA) originating from the MPA. Note the long course of the IA prior to its division into the

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

PurposeSmooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle–dependent organs. We sought to define the clinical history of SMDS to develop recommendations for evaluation and management.MethodsMedical records of 33 patients with SMDS (median age 12 years) were abstracted and analyzed.ResultsAll patients had congenital mydriasis and related pupillary abnormalities at birth and presented in infancy with a patent ductus arteriosus or aortopulmonary window. Patients had cerebrovascular disease characterized by small vessel disease (hyperintense periventricular white matter lesions; 95%), intracranial artery stenosis (77%), ischemic strokes (27%), and seizures (18%). Twelve (36%) patients had thoracic aortic aneurysm repair or dissection at median age of 14 years and aortic disease was fully penetrant by the age of 25 years. Three (9%) patients had axillary artery aneurysms complicated by thromboembolic episodes. Nine patients died between the ages of 0.5 and 32 years due to aortic, pulmonary, or stroke complications, or unknown causes.ConclusionBased on these data, recommendations are provided for the surveillance and management of SMDS to help prevent early-onset life-threatening complications.