Ventricular arrhythmia risk prediction in repaired Tetralogy of Fallot using personalized computational cardiac models.

Background: Adults with repaired tetralogy of Fallot (rTOF) are at increased risk for ventricular tachycardia (VT) due to fibrotic remodeling of the myocardium. However, the current clinical guidelines for VT risk stratification and subsequent implantable cardioverter-defibrillator deployment for primary prevention of sudden cardiac death in rTOF remain inadequate.

Objective: The purpose of this study was to determine the feasibility of using an rTOF-specific virtual-heart approach to identify patients stratified incorrectly as being at low VT risk by current clinical criteria.

Computational Identification of Ventricular Arrhythmia Risk in Pediatric Myocarditis.

Children with myocarditis have increased risk of ventricular tachycardia (VT) due to myocardial inflammation and remodeling. There is currently no accepted method for VT risk stratification in this population. We hypothesized that personalized models developed from cardiac late gadolinium enhancement magnetic resonance imaging (LGE-MRI) could determine VT risk in patients with myocarditis using a previously-validated protocol.

Appropriate Use Criteria for paediatric echocardiography in an outpatient practice: a validation study.

Background: Although transthoracic echocardiography is the dominant imaging modality in CHD, optimal utilisation is unclear. We assessed whether adherence to the paediatric Appropriate Use Criteria for outpatient transthoracic echocardiography could reduce inappropriate use without missing significant cardiac disease.

Methods: Using the Appropriate Use Criteria, we determined the indication and appropriateness rating for each initial echocardiogram performed at our institution during calendar year 2014 (N=1383).

Role of virtual reality in congenital heart disease.

Objective: New platforms for patient imaging present opportunities for improved surgical planning in complex congenital heart disease (CHD). Virtual reality (VR) allows for interactive manipulation of high-resolution representations of patient-specific imaging data, as a supplement to traditional 2D visualizations and 3D printed heart models.

Design: We present the novel use of VR for the presurgical planning of cardiac surgery in two infants with complex CHD to demonstrate interactive real-time views of complex intra and extracardiac anatomy.

Assessment of Pentalogy of Cantrell using 3D Multidetector Computed Tomography.

A 7-month-old white female with Pentalogy of Cantrell was imaged using 64 slice multidetector computed tomography (MDCT) with 3D mapping to better determine the extent of cardiac, thoracic, and abdominal malformations. Complimentary to ultrasound, the use of 3D 64 slice MDCT can facilitate effective diagnosis and treatment planning in cases of Pentalogy of Cantrell.

Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome).

We present the cardiac findings from the autopsy of a 28-year-old male with mucopolysaccharidosis VII (MPS VII), also known as Sly Syndrome, whose diagnosis was confirmed by biochemical testing. The patient died a sudden cardiac death. Autopsy showed thickened and stenotic aortic valve leaflets as well as marked concentric intimal thickening of the aorta and muscular arteries.

Utility of a High-Resolution 3D MRI Sequence (3D-SPACE) for Evaluation of Congenital Heart Disease.

The purpose of this study was to evaluate the role of a high-resolution 3D dark-blood turbo spin echo sequence with variable flip angles (3D-SPACE) in evaluation of congenital heart disease. SPACE sequence was performed in 20 patients (mean age, 17.6 ± 12.

Placement of implantable cardioverter-defibrillators in paediatric and congenital heart defect patients: a pipeline for model generation and simulation prediction of optimal configurations.

There is currently no reliable way of predicting the optimal implantable cardioverter-defibrillator (ICD) placement in paediatric and congenital heart defect (CHD) patients. This study aimed to: (1) develop a new image processing pipeline for constructing patient-specific heart-torso models from clinical magnetic resonance images (MRIs); (2) use the pipeline to determine the optimal ICD configuration in a paediatric tricuspid valve atresia patient; (3) establish whether the widely used criterion of shock-induced extracellular potential (Φe) gradients ≥5 V cm(-1) in ≥95% of ventricular volume predicts defibrillation success. A biophysically detailed heart-torso model was generated from patient MRIs.

Tetralogy of Fallot and aortic root dilation: a long-term outlook.

Dilation of the sinus of Valsalva (SoV) has been increasingly observed after repaired tetralogy of Fallot (TOF). We estimate the prevalence of SoV dilation in adults with repaired TOF and analyze possible factors related to aortic disease. Adults with TOF [n = 109, median age 33.

Inhaled epoprostenol therapy for pulmonary hypertension: Improves oxygenation index more consistently in neonates than in older children.

The purpose of this study was to determine the efficacy of inhaled epoprostenol for treatment of acute pulmonary hypertension (PH) in pediatric patients and to formulate a plan for a prospective, randomized study of pulmonary vasodilator therapy in this population. Inhaled epoprostenol is an effective treatment for pediatric PH. A retrospective chart review was conducted of all pediatric patients who received inhaled epoprostenol at a tertiary care hospital between October 2005 and August 2007.

Aortic root replacement in 372 Marfan patients: evolution of operative repair over 30 years.

Background: We reviewed the evolution of practice and late results of aortic root replacement (ARR) in Marfan syndrome patients at our institution.

Methods: A retrospective clinical review of Marfan patients undergoing ARR at our institution was performed. Follow-up data were obtained from hospital and office records and from telephone contact with patients or their physicians.

Surgically corrected congenital heart disease: utility of 64-MDCT.

Objective: The purpose of this article is to review the CT appearance of postoperative morphology and complications after surgical correction of congenital heart anomalies.

Conclusion: Echocardiography is typically the initial imaging technique used for congenital heart disease; however, some thoracic regions are beyond the imaging scope of echocardiography, particularly after surgical revision. This article shows, through a series of illustrative cases, the usefulness of 64-MDCT in these patients.

Aortic root operations for Marfan syndrome: a comparison of the Bentall and valve-sparing procedures.

Background: We compared results of the Bentall procedure with valve-sparing aortic root replacement (VSRR) for aortic root aneurysm in Marfan syndrome.

Methods: Marfan syndrome patients who had the Bentall procedure or VSRR at our institution between April 1997 and September 2006 were identified. Follow-up information was obtained from hospital charts and contact with patients or their physicians.

Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance.

The autosomal dominant inheritance of bicommissural aortic valve (BAV) (Online Mendelian Inheritance in Man #109730) in some families is well-documented; however, the inheritance of BAV with thoracic aortic aneurysm (TAA) is less clear. Whether the aneurysm is secondary to hemodynamic perturbation related to the valve abnormality or a primary manifestation of the disorder remains controversial. Guidelines are needed regarding the follow-up and treatment of these patients and their families.

Progressive dilation of the ascending aorta in children with isolated bicuspid aortic valve.

Although patients with bicuspid aortic valves (BAVs) are predisposed to ascending aortic (AA) dilation, stenosis, and dissection, the development of aortic disease in children with BAVs is poorly described. The purposes of this study were to determine the rate of change of AA diameter in children with BAVs and to identify risk factors for the development of aortic dilation. The echocardiograms of 276 children aged<19 years (mean 8.

Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease.

Background: Loeys-Dietz syndrome (LDS) is a recently described genetic aortic aneurysm syndrome resulting from mutations in receptors for the cytokine transforming growth factor-beta. Phenotypic features include a bifid uvula, hypertelorism, cleft palate, and generalized arterial tortuosity, but risk of thoracic aortic rupture and dissection is the principle focus of management and exceeds that of most known connective tissue disorders. Our surgical experience with LDS was reviewed to assess outcomes and develop guidelines for management of this aggressive disease.

Cardiac valve assessment with MR imaging and 64-section multi-detector row CT.

A variety of noninvasive techniques are available to assess cardiac valve morphologic features and function, with echocardiography currently being the most widely used modality for this purpose. Technical advances in electrocardiographically gated multi-detector row computed tomography (CT) and magnetic resonance (MR) imaging allow the noninvasive visualization of the cardiac valves. At present, 64-section multi-detector row CT and MR imaging are commonly being used for comprehensive examination of the heart.

Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2.

Arrhythmogenic right ventricular dysplasia (ARVD) is a genetic disorder resulting in fibro-fatty replacement of right ventricular myocytes and consequent ventricular arrhythmias. Heterozygous mutations in PKP2 encoding plakophilin-2 have previously been reported to cause dominant ARVD with reduced penetrance. We report the first case of recessive ARVD caused by mutations in PKP2.

Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Objectives: The purpose of our study was to characterize the penetrance of PKP2 mutations among family members of people with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and to examine clinical features and predictors of disease among PKP2 mutation carriers.

Background: Arrhythmogenic right ventricular dysplasia/cardiomyopathy is an inherited cardiomyopathy characterized by fatty-fibrous myocardial replacement of the right ventricle, ventricular arrhythmias, and right ventricular dysfunction. Mutations in PKP2, the gene encoding plakophilin-2, are found in 11% to 43% of ARVD/C probands.

Valve-sparing aortic root replacement: early experience with the De Paulis Valsalva graft in 51 patients.

Background: Valve-sparing aortic root replacement for treatment of aortic sinus disease avoids the problems of prosthetic valves, but some patients suffer late valve incompetence as a result of leaflet distortion or annular dilatation. The reimplantation technique using the De Paulis Valsalva graft might improve late results of valve-sparing aortic root replacement by maintaining annular stability and re-creating sinuses that minimize leaflet stress.

Methods: Retrospective review was conducted of all patients at our institution who underwent valve-sparing aortic root replacement using the Valsalva graft.

Magnetic resonance imaging of a distorted left subclavian artery course: an important clue to an unusual type of double aortic arch.

The objective of this study was to determine if distortion of the left subclavian artery course distinguishes double aortic arch with atretic left dorsal aorta from right aortic arch with mirror image branching. We performed a retrospective case series at a tertiary care center. Twenty-six patients undergoing magnetic resonance imaging for suspicion of a vascular ring were identified, 6 of whom had an atretic left dorsal aorta confirmed by surgical inspection.

Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.

Background: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy characterized by right ventricular dysfunction and ventricular arrhythmias. A recent study reported mutations in PKP2, encoding the desmosomal protein plakophilin-2, associated with ARVD/C. The purpose of our study was to validate the frequency of PKP2 mutations in another large series of ARVD/C patients and to examine the phenotypic characteristics associated with PKP2 mutations.

Feasibility and variability of three dimensional echocardiography in arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Arrhythmogenic right ventricular dysplasia (ARVD/C) is a genetic cardiomyopathy characterized by fibrous fatty replacement of the right ventricular (RV) myocardium, leading to progressive RV failure and ventricular arrhythmias in young athletes. This study evaluated whether transthoracic, real-time, 3-dimensional echocardiography (3DE) can adequately assess RV morphology and function in ARVD/C by comparing 3DE with cardiac magnetic resonance (CMR), the current reference standard. Three-dimensional echocardiography was prospectively performed in 58 patients (23 with ARVD/C, 20 first-degree relatives with no ARVD/C, 8 with idiopathic ventricular tachycardia with no ARVD/C, and 7 healthy volunteers).

Arrhythmogenic right ventricular dysplasia: a United States experience.

Background: Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy characterized by right ventricular dysfunction and ventricular arrhythmias. The purpose of our study was to describe the presentation, clinical features, survival, and natural history of ARVD in a large cohort of patients from the United States.

Methods And Results: The patient population included 100 ARVD patients (51 male; median age at presentation, 26 [interquartile range {IQR}, 18 to 38; range, 2 to 70] years).