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Open access

Sergio Barros-Gomes, Niyada Naksuk, Dragan Jevremovic and Hector R Villarraga

Cardiac amyloidosis (CA) is relatively rare and frequently misdiagnosed. Other disorders presenting with increased left ventricular (LV) mass can mimic its diagnosis. This case illustrates unique findings of primary light chain (AL) amyloidosis in a patient with remarkable signs of CA. Here, we report a 49-year-old male with prior diagnosis of hypertrophic cardiomyopathy (HCM) based on an echocardiogram performed 1 year earlier, which presented with 8 weeks of periorbital rash. The patient had numbness in the past 3 years. More recently, the patient presented with shortness of breath. Physical examination was remarkable for periorbital purpura, macroglossia and orthostatic hypotension. Cardiac auscultation showed S3 and S4. Electrocardiography showed diffuse low-voltage QRS complexes. Echocardiography revealed severe diastolic impairment; granular ‘sparkling’ pattern of the myocardium with thickened walls, interatrial septum and valves; and pericardial effusion. Diastolic dysfunction and thick walls with low ECG voltage are compelling diagnostic findings. Laboratory workup showed increased free light chain-differential (FLC-diff), N-terminal fragment of brain natriuretic peptide (NT-BNP) and cardiac Troponin T (cTnT). Bone marrow biopsy confirmed AL amyloidosis. A diagnosis of AL amyloidosis with cardiac involvement mimicking HCM was made. The patient died during hospitalization due to sudden cardiac death. This case illustrates the importance of the combination of clinical, serological, and electro- and echocardiographic findings to establish the diagnosis of CA.

Learning points:

  • Several disorders presenting with increased LV mass can mimic CA.

  • Echocardiography is one of the most important methods to diagnose CA and HCM.

  • Signs of CA include LV wall thickness; thickening of interatrial septum, valves and right ventricular free wall; and pericardial effusion. Diastolic dysfunction and thick walls on echocardiography with low ECG voltage are the hallmark of disease.

  • CA is a major prognostic factor in AL amyloidosis.

  • Signs of HCM on echocardiography include several patterns of LV hypertrophy, such as sigmoidal, reverse curve, neutral and apical morphologies; LV outflow tract or mid-cavity obstruction; systolic anterior motion of mitral leaflets; mitral regurgitation and diastolic dysfunction.

  • The combination of clinical and serological features, along morphological and functional structures, has an important role for establishing diagnosis and predicting prognosis.

Open access

Daniel X Augustine, Lindsay D Coates-Bradshaw, James Willis, Allan Harkness, Liam Ring, Julia Grapsa, Gerry Coghlan, Nikki Kaye, David Oxborough, Shaun Robinson, Julie Sandoval, Bushra S Rana, Anjana Siva, Petros Nihoyannopoulos, Luke S Howard, Kevin Fox, Sanjeev Bhattacharyya, Vishal Sharma, Richard P Steeds, Thomas Mathew and the British Society of Echocardiography Education Committee

Pulmonary hypertension is defined as a mean arterial pressure of ≥25 mmHg as confirmed on right heart catheterisation. Traditionally, the pulmonary arterial systolic pressure has been estimated on echo by utilising the simplified Bernoulli equation from the peak tricuspid regurgitant velocity and adding this to an estimate of right atrial pressure. Previous studies have demonstrated a correlation between this estimate of pulmonary arterial systolic pressure and that obtained from invasive measurement across a cohort of patients. However, for an individual patient significant overestimation and underestimation can occur and the levels of agreement between the two is poor. Recent guidance has suggested that echocardiographic assessment of pulmonary hypertension should be limited to determining the probability of pulmonary hypertension being present rather than estimating the pulmonary artery pressure. In those patients in whom the presence of pulmonary hypertension requires confirmation, this should be done with right heart catheterisation when indicated. This guideline protocol from the British Society of Echocardiography aims to outline a practical approach to assessing the probability of pulmonary hypertension using echocardiography and should be used in conjunction with the previously published minimum dataset for a standard transthoracic echocardiogram.

Open access

Antonis Pantazis, Annina S Vischer, Maria Carrillo Perez-Tome and Silvia Castelletti

The clinical spectrum of hypertrophic cardiomyopathy (HCM) is complex and includes a variety of phenotypes, which leads to different types of manifestations. Although most of the patients are asymptomatic, a significant proportion of them will develop symptoms or risk of arrhythmias and sudden cardiac death (SCD). Therefore, the objectives of HCM diagnosis and management are to relieve the patients' symptoms (chest pain, heart failure, syncope, palpitations, etc.), prevent disease progression and major cardiovascular complications and SCD. The heterogeneity of HCM patterns, their symptoms and assessment is a challenge for the cardiologist.

Open access

Thomas Mathew, Lynne Williams, Govardhan Navaratnam, Bushra Rana, Richard Wheeler, Katherine Collins, Allan Harkness, Richard Jones, Dan Knight, Kevin O'Gallagher, David Oxborough, Liam Ring, Julie Sandoval, Martin Stout, Vishal Sharma, Richard P Steeds and on behalf of the British Society of Echocardiography Education Committee

Heart failure (HF) is a debilitating and life-threatening condition, with 5-year survival rate lower than breast or prostate cancer. It is the leading cause of hospital admission in over 65s, and these admissions are projected to rise by more than 50% over the next 25 years. Transthoracic echocardiography (TTE) is the first-line step in diagnosis in acute and chronic HF and provides immediate information on chamber volumes, ventricular systolic and diastolic function, wall thickness, valve function and the presence of pericardial effusion, while contributing to information on aetiology. Dilated cardiomyopathy (DCM) is the third most common cause of HF and is the most common cardiomyopathy. It is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension and valve disease) or coronary artery disease sufficient to cause global systolic impairment. This document provides a practical approach to diagnosis and assessment of dilated cardiomyopathy that is aimed at the practising sonographer.

Open access

Sothinathan Gurunathan and Roxy Senior

Summary

We present the case of a 32-year-old man who presented with a remote history of chest pain and was diagnosed with non-compaction cardiomyopathy on echocardiography. On presentation, he was relatively asymptomatic with normal cardiac function. Unfortunately, he presented 1 year later with a catastrophic embolic stroke.

Learning points:

  • Left ventricular non-compaction (LVNC) is a myocardial disorder characterised by prominent left ventricular (LV) trabeculae, a thin compacted layer and deep intertrabecular recesses.

  • Two-dimensional echocardiography with colour Doppler is the study of choice for diagnosis and follow-up of LVNC. CMR serves an important role where adequate echocardiographic imaging cannot be obtained.

  • LVNC is associated with high rates of mortality and morbidity in adults, including heart failure, thromboembolic events and tachyarrhythmias.

Open access

V S Ellensen, S Saeed, T Geisner and R Haaverstad

We present a rare complication of deep venous thrombosis with pulmonary embolism that threatened the patient with systemic embolization. A 36-year-old female was referred to the hospital after five days of progressive shortness of breath and chest pain. Preceding onset of symptoms, she had undergone surgery leading to reduced physical activity and had just returned from vacation by a long flight. Investigations with transthoracic and transesophageal echocardiography revealed a thromboembolism-in-transit across a patent foramen ovale. Thoracic CT showed submassive bilateral pulmonary embolism. Hemodynamic parameters were stable. The patient was treated surgically with extraction of the thrombus, closure of the foramen ovale and removal of the bilateral pulmonary emboli. She was discharged after an uneventful hospital stay.

Learning points:

  • Thromboembolism-in-transit across a patent foramen ovale usually occurs in the presence of deep venous thrombosis with pulmonary embolism. The abrupt rise in pulmonary arterial pressure may contribute to the migration of the thrombus across the atrial septum to the systemic circulation.

  • If any abnormal structures are seen in the left atrium by TTE in a patient with pulmonary embolism, a TEE should be performed to rule out an embolus entrapped in a patent foramen ovale.

  • When acute pulmonary hypertension cannot be assessed by conventional methods, additional parameters such as shortened right ventricular outflow tract acceleration time and a mid-systolic notching of the pulse wave Doppler profile in the right ventricular outflow tract may be useful.

  • Mortality is highest during the initial 24 h after onset of chest symptoms; thus, optimal treatment must commence urgently.

  • The choice of treatment in each individual patient must be made after a thorough discussion in a multidisciplinary heart team.

Open access

Peter H Waddingham, Sanjeev Bhattacharyya, Jet Van Zalen and Guy Lloyd

Objective

Patients with non-ischaemic systolic heart failure (HF) and idiopathic dilated cardiomyopathy (DCM) are a heterogenous group with varied morbidity and mortality. Prognostication in this group is challenging. We performed a systematic review and meta-analysis to examine the significance of the presence of contractile reserve as assessed via stress imaging on mortality and hospitalisation.

Methods

A search for studies that non-invasively assessed contractile reserve in patients with DCM or non-ischaemic HF with reduced ejection fraction, stress imaging with follow-up data comparing outcomes. A range of imaging modalities and stressors were included. We examined primary endpoints of mortality and secondary endpoints of combined cardiovascular events including HF progression or hospitalisation. Our analysis compared endpoints in patients with contractile reserve and those without it.

Results

Nine prospective cohort studies were identified describing a total of 787 patients. These studies are methodologically but not statistically heterogenous (I 2 = 31%). Using a random effect model, the presence of contractile reserve was associated with a significantly lower risk of mortality and cardiovascular events odds ratios of 0.20 (CI 0.11, 0.39) (P < 0.00001) and 0.13 (CI 0.04, 0.40) (P = 0.0004), respectively.

Conclusion

Regardless of stressor and imaging modality and despite the significant methodological heterogeneity within the current data (imaging techniques and parameters), patients with non-ischaemic cardiomyopathy and reduced EF who demonstrate contractile reserve have a lower mortality, and lower events/hospitalisations. The presence of contractile reserve therefore offers a potential positive prognostic indicator when managing these patients.

Open access

Anne Ringle, Anne Dornhorst, Michaela B Rehman, Cristina Ruisanchez and Petros Nihoyannopoulos

Background

We sought to assess the long-term evolution of left ventricular (LV) function using two-dimensional (2D) and three-dimensional (3D) speckle tracking echocardiography (STE) for the detection of preclinical diabetic cardiomyopathy, in asymptomatic type 1 diabetic patients, over a 6-year follow-up.

Design and methods

Sixty-six asymptomatic type 1 diabetic patients with no cardiovascular risk factors were compared to 26 matched healthy controls. Conventional, 2D and 3D-STE were performed at baseline. A subgroup of 14 patients underwent a 6-year follow-up evaluation.

Results

At baseline, diabetic patients had similar LV ejection fraction (60 vs 61%; P = NS), but impaired longitudinal function, as assessed by 2D-global longitudinal strain (GLS) (−18.9 ± 2 vs −20.5 ± 2; P = 0.0002) and 3D-GLS (−17.5 ± 2 vs −19 ± 2; P = 0.003). At follow-up, diabetic patients had worsened longitudinal function compared to baseline (2D-GLS: −18.4 ± 1 vs −19.2 ± 1; P = 0.03). Global circumferential (GCS) and radial (GRS) strains were unchanged at baseline and during follow-up. Metabolic status did not correlate with GLS, whereas GCS and GRS showed a good correlation, suggestive of a compensatory increase of circumferential and radial functions in advanced stages of the disease – long-term diabetes (GCS: −26 ± 3 vs −23.3 ± 3; P = 0.008) and in the presence of microvascular complications (GRS: 38.8 ± 9 vs 34.3 ± 8; P = 0.04).

Conclusions

Subclinical myocardial dysfunction can be detected by 2D and 3D-STE in type 1 diabetic patients, independently of any other cardiovascular risk factors. Diabetic cardiomyopathy progression was suggested by a mild decrease in longitudinal function at the follow-up, but did not extend to a clinical expression of the disease, as no death or over heart failure was reported.

Open access

A E Velcea, S Mihaila Baldea, D Muraru, L P Badano and D Vinereanu

Summary

Neck venous malformations and their potentially life-threatening complications are rarely reported in the available literature. Cases of aneurysmal or hypo-plastic jugular vein thrombosis associated with systemic embolization have not been frequently reported. We present the case of a 60-year-old male, without any known risk factors for thromboembolic disease, admitted for sudden onset dyspnea. The physical examination was remarkable for a right lateral cervical mass, expanding with Valsalva maneuver. Thoracic CT with contrast established the diagnosis of bilateral pulmonary embolism and raised the suspicion of superior vena cava and right atrial thrombosis. Bedside transthoracic echocardiography confirmed the presence of a large right atrial thrombus, with intermittent protrusion through the tricuspid valve. Systemic thrombolysis with Alteplase was initiated shortly after diagnosis, in parallel with unfractionated heparin, with complete resolution of the intracavitary thrombus documented by echocardiography. The patient showed significant improvement in symptoms and was later started on oral anticoagulation. Computed vascular tomography of the neck was performed before discharge, showing hypoplasia of the left internal jugular vein and aneurismal dilation of the contralateral internal jugular vein, without thrombosis. There were no identifiable systemic causes for thrombosis. Surgical resection of the aneurismal jugular vein was excluded, because of its potential to cause intracranial hypertension. The preferred therapeutic option in this case was long-term oral anticoagulation.

Learning points:

  • Internal jugular venous malformations, such as aneurisms or hypoplasia, could be associated with an increased risk of thrombosis and major embolic events.

  • Systemic thrombolysis can be an efficient solution in cases of pulmonary embolism with right heart thrombosis.

  • Multimodality imaging is greatly valuable in clarifying the diagnosis of atypical cases.

Open access

Mohammed Andaleeb Chowdhury, Jered M Cook, George V Moukarbel, Sana Ashtiani, Thomas A Schwann, Mark R Bonnell, Christopher J Cooper and Samer J Khouri

Background

This analysis aims to assess the prognostic value of pre-operative right ventricular echocardiographic parameters in predicting short-term adverse outcomes and long-term mortality after coronary artery bypass graft (CABG).

Methods

Study design: Observational retrospective cohort. Pre-operative echocardiographic data, perioperative adverse outcomes (POAO) and long-term mortality were retrospectively analyzed in 491 patients who underwent isolated CABG at a single academic center between 2006 and 2014.

Results

Average age of enrolled subjects was 66 ± 11.5 years with majority being male (69%). 227/491 patients had 30 days POAO (46%); most common being post-operative atrial fibrillation (27.3%) followed by prolonged ventilation duration (12.7%). On multivariate analysis, left atrial volume index ≥42 mL/m2 (LAVI) (OR (95% CI): 1.98 (1.03–3.82), P = 0.04), mitral E/A >2 (1.97 (1.02–3.78), P = 0.04), right atrial size >18 cm2 (1.86 (1.14–3.05), P = 0.01), tricuspid annular plane systolic excursion (TAPSE) <16 mm (1.8 (1.03–3.17), P = 0.04), right ventricular systolic pressure (RVSP) ≥36 mmHg (pulmonary hypertension) (1.6 (1.03–2.38), P = 0.04) and right ventricle myocardial performance index (RVMPI) >0.55 (1.58 (1.01–2.46), P = 0.04) were found to be associated with increased 30-day POAO. On 3.5-year follow-up, cumulative survival was decreased in patients with myocardial performance index (MPI) ≥0.55 (log rank: 4.5, P = 0.034) and in patients with mitral valve E/e′ ≥14 (log rank: 4.9, P = 0.026).

Conclusion

Pre-operative right ventricle dysfunction (RVD) is associated with increased perioperative complications. Furthermore, pre-operative RVD and increased left atrial pressures are associated with long-term mortality post CABG.