Imaging Features of Arrhythmogenic Cardiomyopathies.

Arrhythmogenic cardiomyopathy (ACM) is a genetic disease characterized by replacement of ventricular myocardium with fibrofatty tissue, predisposing the patient to ventricular arrhythmias and/or sudden cardiac death. Most cases of ACM are associated with pathogenic variants in genes that encode desmosomal proteins, an important cell-to-cell adhesion complex present in both the heart and skin tissue. Although ACM was first described as a disease predominantly of the right ventricle, it is now acknowledged that it can also primarily involve the left ventricle or both ventricles. The original right-dominant phenotype is traditionally diagnosed using the 2010 task force criteria, a multifactorial algorithm divided into major and minor criteria consisting of structural criteria based on two-dimensional echocardiographic, cardiac MRI, or right ventricular angiographic findings; tissue characterization based on endomyocardial biopsy results; repolarization and depolarization abnormalities based on electrocardiographic findings; arrhythmic features; and family history. Shortfalls in the task force criteria due to the modern understanding of the disease have led to development of the Padua criteria, which include updated criteria for diagnosis of the right-dominant phenotype and new criteria for diagnosis of the left-predominant and biventricular phenotypes. In addition to incorporating cardiac MRI findings of ventricular dilatation, systolic dysfunction, and regional wall motion abnormalities, the new Padua criteria emphasize late gadolinium enhancement at cardiac MRI as a key feature in diagnosis and imaging-based tissue characterization. Conditions to consider in the differential diagnosis of the right-dominant phenotype include various other causes of right ventricular dilatation such as left-to-right shunts and variants of normal right ventricular anatomy that can be misinterpreted as abnormalities. The left-dominant phenotype can mimic myocarditis at imaging and clinical examination. Additional considerations for the differential diagnosis of ACM, particularly for the left-dominant phenotype, include sarcoidosis and dilated cardiomyopathy. ©RSNA, 2024 Test Your Knowledge questions for this article are available in the supplemental material.

A 30-Year-Old Immune Deficient Woman With Persistent Cough and Shortness of Breath.

CASE PRESENTATION: A 30-year-old woman was referred with increasing shortness of breath and cough in the setting of GATA2 deficiency. She initially presented 9 years previously with recurrent episodes of pneumonia and sinusitis. Genetic testing revealed a heterozygous GATA2 mutation (c.988C>T). She has since had multiple infections that have included necrotizing fasciitis of the right thumb, recurrent pilonidal infections (which required 23 procedures), esophageal candidiasis, and human papillomavirus-positive high-grade squamous intraepithelial lesion of the cervix. Serial bone marrow biopsy specimens showed persistent hypocellularity (20% to 60%) with intermittent erythroid atypia and variable detection of trisomy 8, which were concerning for evolving myelodysplastic syndrome. One year before the current admission, she was diagnosed with disseminated Mycobacterium avium complex and was treated with rifabutin, ethambutol, and azithromycin. She was taking voriconazole, acyclovir, and trimethoprim-sulfamethoxazole prophylaxis.

Increased Epicardial Fat Volume Is Independently Associated with the Presence and Severity of Systemic Sclerosis.

RATIONALE AND OBJECTIVES: The study aimed to determine if intrathoracic fat volumes are associated with the presence and severity of systemic sclerosis (SSc), defined by the presence of pulmonary arterial hypertension (PAH). MATERIALS AND METHODS: A total of 265 patients were included in the study, 202 of whom had SSc (134 had SSc with no PAH and 68 had SSc-associated PAH) and who underwent high-resolution computed tomography, and 63 controls who underwent coronary computed tomography angiography with calcium scoring. Intrathoracic and epicardial (EFV) fat volumes were quantified by manual tracing of the mediastinum and the pericardium, the difference of which represents the extrapericardial fat volume. Associations between these three fat volumes and the presence and severity of SSc, adjusted for cardiovascular risk factors and interstitial lung disease, were evaluated by logistic regression analysis. RESULTS: Of the 202 patients with SSc, the mean age was 55 years (ranged from 20 to 86), and 79% (159 of 202) were women. Adjusted EFV (odds ratio [OR]: 1.065; 95% confidence interval [CI]: 1.046-1.084, P = < 0.0001), extrapericardial fat volume (OR: 1.028, 95% CI: 1.017-1.038, P = < 0.0001), and intrathoracic fat volume (OR: 1.033, 95% CI: 1.023-1.043, P = 0.001) were associated with the presence of SSc. Only EFV was associated with SSc severity (adjusted OR: 1.010, 95% CI: 1.003-1.018, P = 0.007). CONCLUSION: Increased epicardial fat volume is associated with the presence and severity of SSc, independent of cardiovascular risk factors and interstitial lung disease.

Evaluation with cardiovascular MR imaging of baffles and conduits used in palliation or repair of congenital heart disease.

A wide array of baffles and conduits are used in repair or palliation of congenital heart disease, which is the most common major birth defect, often with complex redirection of blood flow to achieve a more stable physiology. Cardiovascular magnetic resonance (CMR) imaging is an increasingly used modality for noninvasive assessment of anatomy and physiology both before and after surgical intervention, with highly reproducible measurements of ventricular size and function, quantification of valvular insufficiency and flow volumes, and excellent delineation of intracardiac and extracardiac anatomy. The authors review the indications, appearances on CMR images, and potential complications of various cardiovascular baffles and conduits: Mustard and Senning procedures, venoatrial baffles, intraventricular baffles, ventriculoarterial conduits, and baffles and conduits used in functional single-ventricle palliation. CMR imaging offers the most complete evaluation of single-ventricle anatomy and physiology, demonstrating the anatomy of venous pathways and pulmonary arteries and quantifying systemic ventricular size and systolic function, differential pulmonary blood flow, ratio of pulmonary to systemic blood flow, and aortopulmonary collateral flow. Anatomic and physiologic considerations are discussed, and suggested CMR imaging protocols and practical advice for performing and interpreting CMR studies are provided. The diversity and complexity of baffles and conduits complicates performance and interpretation of studies in this population, but a fundamental understanding of the goals of the procedure, postoperative physiology, and potential complications allows targeted imaging and precise reporting of clinically significant findings. Supplemental material available at http://radiographics.rsna.org/lookup/suppl/doi:10.1148/rg.323115096/-/DC1.

Pilot study of cardiac magnetic resonance imaging for detection of embolic source after ischemic stroke.

BACKGROUND: Transesophageal echocardiography (TEE) is the standard for evaluating cardioembolic sources of stroke, although many strokes remain cryptogenic after TEE. Cardiac magnetic resonance (CMR) imaging may have advantages over TEE. We performed a prospective pilot study comparing CMR to TEE after stroke to assist in planning future definitive studies. METHODS: Individuals with nonlacunar stroke within 90 days of undergoing clinical TEE were prospectively identified and underwent a 1.5 Tesla research CMR scan. Exclusion criteria included >50% relevant cervical vessel stenosis and inability to undergo nonsedated CMR. A descriptive comparison of cardioembolic source (intracardiac thrombus/mass, aortic atheroma ≥ 4 mm, or patent foramen ovale [PFO]) by study type was performed. RESULTS: Twenty patients underwent CMR and TEE a median of 6 days apart. The median age was 51 years (interquartile range [IQR] 40, 63.5), 40% had hypertension, 15% had diabetes, 25% had a previous stroke/transient ischemic attack, 5% had atrial fibrillation, and none had coronary disease or heart failure. No patient had intracardiac thrombus or mass detected on either study. Aortic atheroma ≥ 4 mm thick was identified by TEE in 1 patient. CMR identified aortic atheroma as <4 mm in this patient (3 mm on CMR compared with 5 mm on TEE). PFO was identified in 6 of 20 patients on TEE; CMR found only 1 of these. CONCLUSIONS: In this pilot study, TEE identified more potential cardioembolic sources than CMR imaging. Future studies comparing TEE and CMR after stroke should focus on older subjects at higher risk for cardiac disease to determine whether TEE, CMR, or both can best elucidate potential cardioembolic sources.

Preprocedural planning with prospectively triggered multidetector row CT angiography prior to bronchial artery embolization in cystic fibrosis patients with massive hemoptysis.

STUDY OBJECTIVES: The aim of this study was to determine if electrocardiographically synchronized, prospectively triggered multidetector row computed tomography (ECG-MDR-CT) angiography of the aorta can accurately predict the location of ectopic bronchial arteries in patients with cystic fibrosis (CF) with massive hemoptysis prior to bronchial artery embolization (BAE). DESIGN AND SETTING: The study was a prospective, observational study from September 1, 2009 to June 30, 2011, conducted at a university hospital with an adult CF center. PATIENTS: The study included adult CF patients with massive hemoptysis. RESULTS: A total of four adult patients (mean [± SD] age = 31.5 ± 7.9 years) with CF and massive hemoptysis underwent ECG-MDR-CT angiography. The location of the bleeding source was predicted in each case based on lung pathology observed on ECG-MDR-CT angiography. All four patients eventually required BAE without the need for conventional aortograms since the locations of the bronchial arteries were determined prior to the procedure. Review of lung pathology and arterial networks from the ECG-MDR-CT angiography data limited the number of selective catheterizations necessary to complete the procedures. BAE resulted in complete resolution of hemoptysis in three patients and successful mitigation of the bleeding in the fourth patient until lung transplantation was performed 1 week later. CONCLUSIONS: ECG-MDR-CT angiography accurately depicted bronchial artery anatomy in CF patients with massive hemoptysis and provided excellent preprocedural planning for BAE. The information provided by ECG-MDR-CT angiography of the aorta prior to conventional angiography decreased the BAE radiation dose and contrast volume and likely reduced table time.

Common and uncommon vascular rings and slings: a multi-modality review.

Vascular rings and pulmonary slings are congenital anomalies of the aortic arch/great vessels and pulmonary arteries, respectively, that commonly present early during infancy and childhood with respiratory and/or feeding difficulties. The diagnosis of these conditions frequently utilizes a multi-modality radiological approach, commonly utilizing some combination of radiography, esophagography, CT angiography and MR angiography. The purpose of this pictorial review is to illustrate the radiological findings of common and uncommon vascular rings and pulmonary slings in children using a state-of-the-art multi-modality imaging approach.

Relation of right ventricular dilation, age of repair, and restrictive right ventricular physiology with patient-reported quality of life in adolescents and adults with repaired tetralogy of fallot.

The present study aimed to determine the predictors of patient-reported quality of life and restrictive right ventricular (RV) physiology in adolescents and adults with repaired tetralogy of Fallot. A total of 62 patients (median age 28.5 years, range 14 to 69) undergoing cardiovascular magnetic resonance imaging completed the Short Form 36-item questionnaire, version 2, a validated quality of life assessment. RV inflow curves were generated from the sum of tricuspid inflow and pulmonary insufficiency. The patient-reported quality of life was comparable to population norms. Patients repaired after 1 year of age showed a strong trend toward a greater likelihood of physical component summary age-adjusted z-score ≤-1 (odds ratio 7.50, 95% confidence interval 0.90 to 62.3, p = 0.06). Patients with a RV ejection fraction of <45% reported decreased physical component summary (p = 0.02) and physical functioning (p = 0.02) scores. The RV end-diastolic volume, pulmonary regurgitation, and diastolic indexes did not predict the quality of life. The indexed RV end-diastolic volume was related to diastolic abnormalities, correlating with a greater peak early filling rate (r = 0.71, p <0.0001), ratio of peak early to atrial filling rates (r = 0.45, p = 0.006), and showing a strong trend with the end-diastolic forward flow in the pulmonary trunk (odds ratio 2.67 for moderate dilation and 3.50 for severe dilation, p = 0.06). Patients who underwent repair before 1 year old were more likely to have end-diastolic forward flow (15 of 17 vs 25 of 42, p = 0.03). In conclusion, the RV ejection fraction and age of repair were the best predictors of quality of life in this population, in whom end-diastolic forward flow and associated diastolic parameters appeared to reflect an overdistended ventricle, which might suggest a role for early pulmonary valve replacement.

Cardiovascular MR imaging of conotruncal anomalies.

Conotruncal anomalies are congenital heart defects that result from abnormal formation and septation of the outflow tracts of the heart and great vessels. The major conotruncal anomalies include tetralogy of Fallot, transposition of the great arteries, double-outlet right ventricle, truncus arteriosus, and interrupted aortic arch. Cardiovascular magnetic resonance (MR) imaging is an important modality for the evaluation of patients with these defects. Major advances in cardiovascular MR imaging equipment and techniques allow precise delineation of the cardiovascular anatomy and accurate quantitative assessment of ventricular function and blood flow. The data provided by cardiovascular MR imaging are useful for treatment planning and posttreatment monitoring, supplement information obtained with echocardiography, and in many cases obviate cardiac catheterization.

Cardiovascular magnetic resonance imaging of hypoplastic left heart syndrome in children.

Cardiovascular magnetic resonance imaging (CMR) plays an important complementary role to echocardiography and conventional angiography in the evaluation of hypoplastic left heart syndrome. This imaging modality is particularly useful for assessing cardiovascular postsurgical changes, extracardiac vascular anatomy, ventricular and valvular function, and a variety of complications. The purpose of this article is to provide a contemporary review of the role of CMR in the management of untreated and surgically palliated hypoplastic left heart syndrome in children.

Quantification in cardiac MRI: advances in image acquisition and processing.

Cardiac magnetic resonance (CMR) imaging enables accurate and reproducible quantification of measurements of global and regional ventricular function, blood flow, perfusion at rest and stress as well as myocardial injury. Recent advances in MR hardware and software have resulted in significant improvements in image quality and a reduction in imaging time. Methods for automated and robust assessment of the parameters of cardiac function,blood flow and morphology are being developed. This article reviews the recent advances in image acquisition and quantitative image analysis in CMR.

Cross-sectional imaging of primary thoracic sarcomas with histopathologic correlation: a review for the radiologist.

Numerous forms of primary sarcoma can arise from the heart, pericardium, great vessels, lungs, chest wall, and breasts. Magnetic resonance imaging and computed tomography currently play important roles in determining the extent of primary thoracic sarcoma involvement, potential for resectability, and response to therapy. The purpose of this article is to review the various forms of primary sarcoma that may affect the thorax as well as illustrate pertinent cross-sectional radiologic findings with histopathologic correlation.