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

PURPOSE: Smooth 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. METHODS: Medical records of 33 patients with SMDS (median age 12 years) were abstracted and analyzed. RESULTS: All 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. CONCLUSION: Based on these data, recommendations are provided for the surveillance and management of SMDS to help prevent early-onset life-threatening complications.

Improved high-resolution pediatric vascular cardiovascular magnetic resonance with gadofosveset-enhanced 3D respiratory navigated, inversion recovery prepared gradient echo readout imaging compared to 3D balanced steady-state free precession readout imaging.

BACKGROUND: Improved delineation of vascular structures is a common indication for cardiovascular magnetic resonance (CMR) in children and requires high spatial resolution. Currently, pre-contrast 3D, respiratory navigated, T2-prepared, fat saturated imaging with a bSSFP readout (3D bSSFP) is commonly used; however, these images can be limited by blood pool inhomogeneity and exaggeration of metal artifact. We compared image quality of pediatric vasculature obtained using standard 3D bSSFP to 3D, respiratory navigated, inversion recovery prepared imaging with a gradient echo readout (3D IR GRE) performed after administration of gadofosveset trisodium (GT), a blood pool contrast agent. METHODS: For both sequences, VCG triggering was used with acquisition during a quiescent period of the cardiac cycle. 3D bSSFP imaging was performed pre-contrast, and 3D IR GRE imaging was performed 5 min after GT administration. We devised a vascular imaging quality score (VIQS) with subscores for coronary arteries, pulmonary arteries and veins, blood pool homogeneity, and metal artifact. Scoring was performed on axial reconstructions of isotropic datasets by two independent readers and differences were adjudicated. Signal- and contrast-to-noise (SNR and CNR) calculations were performed on each dataset. RESULTS: Thirty-five patients had both 3D bSSFP and 3D IR GRE imaging performed. 3D IR GRE imaging showed improved overall vascular imaging compared to 3D bSSFP when comparing all-patient VIQS scores (n = 35, median 14 (IQR 11-15), vs 6 (4-10), p < 0.0001), and when analyzing the subset of patients with intrathoracic metal (n = 17, 16 (14-17) vs. 5 (2-9), p < 0.0001). 3D IR GRE showed significantly improved VIQS subscores for imaging the RCA, pulmonary arteries, pulmonary veins, and blood pool homogeneity. In addition, 3D IR GRE imaging showed reduced variability in both all-patient and metal VIQS scores compared to 3D bSSFP (p < 0.05). SNR and CNR were higher with 3D IR GRE in the left ventricle and left atrium, but not the pulmonary arteries. CONCLUSIONS: Respiratory navigated 3D IR GRE imaging after GT administration provides improved vascular CMR in pediatric patients compared to pre-contrast 3D bSSFP imaging, as well as improved imaging in patients with intrathoracic metal. It is an excellent alternative in this challenging patient population when high spatial resolution vascular imaging is needed.

Late primary transplantation in complex congenital heart disease.

Heart transplantation is a viable option for patients with congenital heart disease who manifest heart failure, predominantly post-surgical palliation. We present a case of complex congenital heart disease, where surgical palliation was considered not to be an option. Considerate medical management with close follow-up allowed for a nine-yr delay until eventual successful heart transplantation. The case also highlights the natural history over nine yr of the effects of right ventricular outflow tract obstruction on the left ventricular remodeling which is analogous to a PA banding in patients with dilated cardiomyopathy.

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

UNLABELLED: 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.

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

BACKGROUND: Congenital 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. METHODS: This 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. RESULTS: The 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. CONCLUSIONS: The 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.

Rerouting of Cerebral Circulation: Extensive Transcatheter Aortic Arch Revision.

We describe an adolescent with long-standing atresia of the head/neck arteries and severe aortic coarctation. Because of progressive symptoms, a series of interventions was undertaken to provide direct aorta-to-carotid artery flow and coarctation treatment. This case highlights the unusual physiological features associated with atresia of all head and neck arteries. (Level of Difficulty: Advanced.).

Double Aortic Arch With Previously Undescribed Head and Neck Vessel Branching.

Vascular ring in the form of a double aortic arch is a rare anomaly that can cause airway compression. It occasionally occurs with unusual head and neck vessel branching. A 5-year-old boy with chronic respiratory symptoms was referred because of a tracheal indentation on his chest x-ray. Magnetic resonance imaging showed a double aortic arch with arch origins of a common carotid, vertebral, and subclavian on the right and internal and external carotids, vertebral, and subclavian arteries on the left. Our case represents, to our knowledge, the first report of a double aortic arch with 7 separate vessels arising from the transverse arches.