Multi-modality imaging of the systemic right ventricle in congenital heart disease.

A comprehensive and structured imaging approach in the evaluation of the systemic right ventricle (sRV) in patients with complete transposition of the great arteries (TGA) after atrial switch procedure and congenitally corrected transposition of the great arteries (ccTGA) is a key for their optimal lifelong surveillance. Despite the improvements in cardiovascular imaging of adults with congenital heart disease (ACHD), the imaging of sRV remains an ongoing challenge due to its complex morphology and the difficulty in applying the existing knowledge for the systemic left ventricle. While cardiac magnetic resonance (CMR) is considered the gold standard imaging method, echocardiographic evaluation is primarily preferred in everyday clinical setting. Although qualitative assessment of its systolic function is primarily used, the introduction of advanced echocardiographic techniques, such as speckle tracking echocardiography (STE) and three-dimensional echocardiography (3DE), has provided new insights into the optimal assessment of the sRV. Standardized quantitative parameters remain to be elucidated, and morphometric and mechanistic studies are warranted to validate reference ranges for the sRV. This review highlights the challenges in the optimal evaluation of sRV and summarizes the available imaging tools. HIGHLIGHTS: CMR is the gold standard imaging method of sRV. Qualitative assessment of the systolic function of sRV is primarily used. Advanced echocardiographic techniques (STE and 3DE) provide optimal sRV assessment. Reference ranges for the sRV indices are warranted to be validated.

Marfan Syndrome beyond Aortic Root-Phenotyping Using Cardiovascular Magnetic Resonance Imaging and Clinical Implications.

Marfan syndrome (MFS) is an inherited autosomal-dominant connective tissue disorder with multiorgan involvement including musculoskeletal, respiratory, cardiovascular, ocular, and skin manifestations. Life expectancy in patients with MFS is primarily determined by the degree of cardiovascular involvement. Aortic disease is the major cardiovascular manifestation of MFS. However, non-aortic cardiac diseases, such as impaired myocardial function and arrhythmia, have been increasingly acknowledged as additional causes of morbidity and mortality. We present two cases demonstrating the phenotypical variation in patients with MFS and how CMR (Cardiovascular Magnetic Resonance) could serve as a "one stop shop" to retrieveS all the necessary information regarding aortic/vascular pathology as well as any potential underlying arrhythmogenic substrate or cardiomyopathic process.

Diagnostic and therapeutic dilemmas in a patient with myocarditis, Brugada syndrome and arrhythmic syncope.

We present a case of a previously healthy 23-year-old male who presented with chest pain, palpitations and spontaneous type 1 Brugada electrocardiographic (ECG) pattern. Positive family history for sudden cardiac death (SCD) was remarkable. Initially, clinical symptoms in combination with myocardial enzymes elevation, regional myocardial oedema with late gadolinium enhancement (LGE) on cardiac magnetic resonance (CMR) and inflammatory lymphocytoid-cell infiltrates in the endomyocardial biopsy (EMB) suggested the diagnosis of a myocarditis-induced Brugada phenocopy (BrP). Under immunosuppressive therapy with methylprednisolone and azathioprine, a complete remission of both symptoms and biomarkers was accomplished. However, the Brugada pattern did not resolve. The eventually spontaneous Brugada pattern type 1 established the diagnosis of Brugada syndrome (BrS). Due to his previous history of syncope, the patient was offered an ICD that he declined. After his discharge he experienced a new episode of arrhythmic syncope. He was readmitted and received an ICD.

Cardiomyopathies in children: An overview.

Paediatric cardiomyopathies form a heterogeneous group of disorders characterized by structural and electrical abnormalities of the heart muscle, commonly due to a gene variant of the myocardial cell structure. Mostly inherited as a dominant or occasionally recessive trait, they might be part of a syndromic disorder of underlying metabolic or neuromuscular defects or combine early developing extracardiac abnormalities (i.e., Naxos disease). The annual incidence of 1 per 100,000 children appears higher during the first two years of life. Dilated and hypertrophic cardiomyopathy phenotypes share an incidence of 60% and 25%, respectively. Arrhythmogenic right ventricular cardiomyopathy (ARVC), restrictive cardiomyopathy, and left ventricular noncompaction are less commonly diagnosed. Adverse events such as severe heart failure, heart transplantation, or death usually appear early after the initial presentation. In ARVC patients, high-intensity aerobic exercise has been associated with worse clinical outcomes and increased penetrance in at-risk genotype-positive relatives. Acute myocarditis in children has an incidence of 1.4-2.1 cases/per 100,000 children per year, with a 6-14% mortality rate during the acute phase. A genetic defect is considered responsible for the progression to dilated cardiomyopathy phenotype. Similarly, a dilated or arrhythmogenic cardiomyopathy phenotype might emerge with an episode of acute myocarditis in childhood or adolescence. This review provides an overview of childhood cardiomyopathies focusing on clinical presentation, outcome, and pathology.

Complicated coarctation repair: The importance of three-dimensional cross-sectional imaging in late postoperative assessment.

Coarctation of the aorta (CoA) represents 5%-8% of congenital heart disease patients and is one of the most common causes of neonatal surgical intervention. These patients require close lifelong follow-up due to frequent long-term complications. Although transthoracic echocardiography is the first-line technique for its diagnosis and follow-up, cross-sectional imaging with cardiovascular magnetic resonance (CMR) gives excellent anatomical and functional information, especially in complex CoA. We present the case of a 17-year-old patient who underwent complicated neonatal CoA repair and demonstrate how CMR and thorough operative records helped to define the exact anatomy of repair many years after surgery. Furthermore, we conclude that keeping surgical drawings in the patient records can be of great importance, especially in complicated cases.

Right Ventricular Dysfunction and the Effect of Defibrillator Implantation in Patients With Nonischemic Systolic Heart Failure.

Background Patients with nonischemic systolic heart failure are at an increased risk of sudden cardiac death, but more discriminating tools are needed to identify those patients likely to benefit from implantable cardioverter-defibrillator (ICD) implantation. Whether right ventricular (RV) ejection fraction (RVEF) can identify patients with nonischemic systolic heart failure more likely to benefit from ICD implantation is not yet known. Methods In this post hoc analysis of the DANISH trial (Danish Study to Assess the Efficacy of ICDs in Patients with Nonischemic Systolic Heart Failure on Mortality), patients with nonischemic systolic heart failure randomized to ICD or control underwent cardiovascular magnetic resonance. RV systolic dysfunction was defined as RVEF ≤45%. Cox regression assessed the effects of RV function and ICD implantation on all-cause mortality, sudden cardiac death, and cardiovascular death. Results Overall, 239 patients had interpretable images of RV volume. Median RVEF was 51%, RV systolic dysfunction was present in 75 (31%) patients, and 55 (23%) patients died. RVEF was an independent predictor of all-cause mortality, hazards ratio 1.34 per 10% absolute decrease in RVEF (95% CI, 1.05-1.70), P=0.02. There was a statistically significant interaction between RVEF and the effect of ICD implantation ( P=0.001). ICD implantation significantly reduced all-cause mortality in patients with RV systolic dysfunction, hazards ratio 0.41 (95% CI, 0.17-0.97), P=0.04 but not in patients without RV systolic dysfunction, hazards ratio 1.87 (95% CI, 0.85-3.92), P=0.12, ( P=0.01 for the difference in effect of ICD between RV groups). Conclusions In this post hoc analysis of the DANISH trial, ICD therapy was associated with survival benefit in patients with biventricular heart failure. These findings need confirmation in a prospective study. CLINICAL TRIAL REGISTRATION: URL: https://www.clinicaltrials.gov . Unique identifier: NCT00542945.

Identification of myocardial diffuse fibrosis by 11 heartbeat MOLLI T 1 mapping: averaging to improve precision and correlation with collagen volume fraction.

OBJECTIVES: Our objectives involved identifying whether repeated averaging in basal and mid left ventricular myocardial levels improves precision and correlation with collagen volume fraction for 11 heartbeat MOLLI T 1 mapping versus assessment at a single ventricular level. MATERIALS AND METHODS: For assessment of T 1 mapping precision, a cohort of 15 healthy volunteers underwent two CMR scans on separate days using an 11 heartbeat MOLLI with a 5(3)3 beat scheme to measure native T 1 and a 4(1)3(1)2 beat post-contrast scheme to measure post-contrast T 1, allowing calculation of partition coefficient and ECV. To assess correlation of T 1 mapping with collagen volume fraction, a separate cohort of ten aortic stenosis patients scheduled to undergo surgery underwent one CMR scan with this 11 heartbeat MOLLI scheme, followed by intraoperative tru-cut myocardial biopsy. Six models of myocardial diffuse fibrosis assessment were established with incremental inclusion of imaging by averaging of the basal and mid-myocardial left ventricular levels, and each model was assessed for precision and correlation with collagen volume fraction. RESULTS: A model using 11 heart beat MOLLI imaging of two basal and two mid ventricular level averaged T 1 maps provided improved precision (Intraclass correlation 0.93 vs 0.84) and correlation with histology (R 2 = 0.83 vs 0.36) for diffuse fibrosis compared to a single mid-ventricular level alone. ECV was more precise and correlated better than native T 1 mapping. CONCLUSION: T 1 mapping sequences with repeated averaging could be considered for applications of 11 heartbeat MOLLI, especially when small changes in native T 1/ECV might affect clinical management.

Myocardial edema in Takotsubo syndrome mimicking apical hypertrophic cardiomyopathy: An insight into diagnosis by cardiovascular magnetic resonance.

Myocardial edema is one of the characteristic features in the pathogenesis of Takotsubo syndrome. We report a middle aged man who presented with typical clinical and echocardiographic features of apical variant of Takotsubo syndrome. However, a cardiovascular magnetic resonance study performed 10 days after presentation did not show any apical 'ballooning' but revealed features of an apical hypertrophic cardiomyopathy on cine images. Tissue characterization with T2 weighted images proved severe edema as the cause of significantly increased apical wall thickness. A follow-up cardiovascular magnetic resonance study was performed 5 months later which showed that edema, wall thickening and the appearance of apical hypertrophic cardiomyopathy all resolved, confirming Takotsubo syndrome as the cause of the initial appearance. As the affected myocardium most commonly involves the apical segments, an edema induced increase in apical wall thickness may lead to appearances of an apical hypertrophic cardiomyopathy rather than apical ballooning in the acute to subacute phase of Takotsubo syndrome.

Effect of personalized external aortic root support on aortic root motion and distension in Marfan syndrome patients.

OBJECTIVE: Personalized external aortic root support (PEARS) is a novel surgical approach with the aim of stabilizing the aortic root size and decreasing risk of dissection in Marfan syndrome patients. A bespoke polymer mesh tailored to each patient's individual aorta shape is produced by modeling and then surgically implanted. The aim of this study is to assess the mechanical effects of PEARS on the aortic root systolic downward motion (an important determinant of aortic wall stress), aortic root distension and on the left ventricle (LV). METHODS/RESULTS: A cohort of 27 Marfan patients had a prophylactic PEARS surgery between 2004 and 2012 with 24 having preoperative and follow-up cardiovascular magnetic resonance imaging studies. Systolic downward aortic root motion, aortic root distension, LV volumes/mass and mitral annular systolic excursion before the operation and in the latest follow-up were measured randomly and blinded. After a median follow-up of 50.5 (IQR 25.5-72) months following implantation of PEARS, systolic downward motion of aortic root was significantly decreased (12.6±3.6mm pre-operation vs 7.9±2.9mm latest follow-up, p<0.00001). There was a tendency for a decrease in systolic aortic root distension but this was not significant (median 4.5% vs 2%, p=0.35). There was no significant change in LV volumes, ejection fraction, mass and mitral annular systolic excursion in follow-up. CONCLUSIONS: PEARS surgery decreases systolic downward aortic root motion which is an important determinant of longitudinal aortic wall stress. Aortic wall distension and Windkessel function are not significantly impaired in the follow-up after implantation of the mesh which is also supported by the lack of deterioration of LV volumes or mass.

The value of E/Em ratio in the estimation of left ventricular filling pressures: impact of acute load reduction: a comparative simultaneous echocardiographic and catheterization study.

BACKGROUND: The ratio of the early transmitral flow velocity to the early diastolic tissue velocity (E/Em) has been suggested as a reliable estimate of left ventricular diastolic pressures (LVDP). However, the evidence regarding the ability of E/Em to detect LVDP changes is relatively equivocal. Our aim was to evaluate the validity of the ratio following acute load reduction. METHODS AND RESULTS: 68 consecutive patients referred for coronary angiography underwent LV catheterization and echocardiography simultaneously. Doppler signals of transmitral flow and spectral TD signals at the level of the mitral annulus were obtained before and directly after intravenous administration of nitroglycerin (NTG). The predictive ability of E/Em to identify elevated LVDP was modest (area under curve=0.71 ± 0.08, p<0.01). The index was more strongly associated with LVDP in patients with reduced ejection fraction (EF)<55% (r=0.68; p<0.01) than in patients with normal EF. Following NTG, E/Em lacked any predictive potential for elevated LVDP whereas changes LVDP could not be reliably tracked using E/Em. CONCLUSION: The predictive capacity of E/Em for elevated LVDP was weak and declined significantly following acute reduction in LV load. Changes in LVDP were not reliably predicted by E/Em. The current findings derived from a real-world patient population with relatively high filling pressures indicate that E/Em may not be sufficiently robust to be employed as a single non-invasive estimate of LVDP nor for monitoring load reducing medical therapy.

Diagnosing acute aortic syndromes: the role of specific biochemical markers.

Acute aortic syndromes (AAS) remain one of the most challenging medical emergencies. Making a prompt and accurate diagnosis is a race against time, where delay may be disastrous for the patient's life. Prompt and accurate diagnosis using imaging modalities has been available for many years, but the major concern is how the clinician's suspicion should be aroused concerning the possibility of an acute aortic syndrome, especially in cases of atypical clinical presentation and/or poor signs during clinical examination. Since the first case report publication in 1995, novel biochemical markers have been used for the rapid diagnosis of AAS, such as smooth muscle myosin heavy chains, serum soluble elastin fragments, and d-dimers, with the latter being the most widely used in clinical trials. Despite their potential, all these substances need to be re-evaluated in large randomized trials before they can be included as biomarkers of high sensitivity and specificity in clinical practice.

Asymptomatic papillary fibroelastoma of the aortic valve in a young woman - a case report.

Echocardiography represents an invaluable diagnostic tool for the detection of intracardiac masses while simultaneously provides information about their size, location, mobility and attachment site as well as the presence and extent of any consequent hemodynamic derangement. A 29-year-old asymptomatic young woman with incidental transthoracic echocardiographic (TTE) discovery of an aortic valve mass is presented. The 2-dimensional TTE showed a mobile, pedunculated mass, attached by a thin stalk to the aortic surface of the right coronary aortic cusp at the junction of its base with the anterior aortic wall. The importance of valve sparing tumour resection even in asymptomatic patients is emphasised.

Are measurements of systolic myocardial velocities and displacement with colour and spectral Tissue Doppler compatible?

BACKGROUND: Tissue Doppler (TD) in pulsed mode (spectral TD) and colour TD are the two modalities today available in tissue velocity echocardiography (TVE). Previous studies have shown poor agreement between these two methods when measuring myocardial velocities and displacement. In this study, the concordance between the myocardial velocity and displacement measurements using colour TD and different spectral TD procedures was evaluated. METHODS: Left ventricular (LV) longitudinal systolic myocardial velocities and displacement during ejection period were quantified at the basal septal and lateral wall in 24 healthy individuals (4 women and 20 men, 34 +/- 12 years) using spectral TD, colour TD and M-mode recordings. Mean, maximal and minimal spectral TD systolic velocities and the corresponding displacement values were obtained by measurements at the outer and inner borders of the spectral velocity signal. The results were then compared with those obtained with the two other modalities used. RESULTS: Systolic myocardial velocities derived from mean spectral TD frequencies were highly concordant with corresponding colour TD measurements (mean difference 0.10 +/- 0.54 cm/sec in septal and 0.09 +/- 0.97 cm/sec in lateral wall). Similarly, the agreement between spectral and colour TD (mean difference 0.22 +/- 0.74 mm in septal and 0.02 +/- 0.86 mm in lateral wall) as well as M-mode was good when mean spectral velocities were temporally integrated and the results did not differ statistically. Conversely, displacement values from the inner or outer border of the spectral signal differed significantly from values obtained with colour TD and M-mode (p < 0.001, in both cases). CONCLUSION: LV systolic myocardial measurements based on mean spectral TD frequencies are highly concordant with those provided by colour TD and M-mode. Hence, in order to maintain compatibility of the results, the use of this particular spectral TD procedure should be advocated in clinical praxis.

Association of impaired glucose tolerance with increased heart rate and subclinical inflammation.

INTRODUCTION: This study was designed to assess possible alterations in heart rate (HR), heart rate variability (HRV) and circulating serum levels of proinflammatory cytokines in patients with impaired glucose tolerance (IGT). METHODS: Forty-five patients, aged 34-68 years, with IGT were compared with 28 age-matched healthy controls. Using a 24-hour ambulatory electrocardiogram, we calculated mean HR during daytime (HR-D), night-time (HR-N) and the entire 24-hour period (HR-24h), as well as time domain HRV parameters. From blood samples interleukin-6 (IL-6), tumour necrosis factor-alpha (TNF-a) and its soluble receptor (sTNFRII) were also calculated by immunoassay. RESULTS: Patients showed higher mean HR compared to controls and significantly elevated circulating levels of TNF-a, sTNFRII, and IL-6. Pearson correlation analysis showed that TNF-a was positively correlated with mean HR-D (r: 0.304, p=0.042). IL-6 was also positively correlated with mean HR-24h (r: 0.299, p=0.046) and with mean HR-D (r: 0.410, p=0.005). CONCLUSION: IGT patients have an increased HR and elevated cytokine levels. These changes could serve as an index of the primary atherosclerotic process.