Late-Onset Fabry Disease Presenting With Ventricular Tachycardia Originating From Typical Inferolateral Scar.

Late-onset cardiac Fabry disease is not uncommon among patients with unexplained left ventricular hypertrophy. Despite a less severe phenotype, life-threatening complications are possible in late-onset cardiac Fabry and may be the first presentation of the disease. Classical imaging features support the diagnosis; however, the presence of less common findings, such as ischemic features, should not lead to overlooking the diagnosis. Indeed, the coexistence of Fabry and ischemic heart disease is possible, even in the absence of obstructive coronary artery disease. Therefore, a high level of suspicion should be maintained, even in the presence of atypical presentations.

A case report: multiple right ventricular diverticula with constrictive pericarditis and right heart failure.

BACKGROUND: Right ventricular diverticula (RVD) are very rare congenital anomalies and their association with constrictive pericarditis is even rarer. So far, only one case has been published in literature. CASE SUMMARY: We report a case of multiple congenital RVD with constrictive pericarditis and right heart failure which was incidentally identified on surveillance computed tomography (CT) for abdominal lymphangioma. Interval CT, echocardiography, and cardiac magnetic resonance imaging (CMR) studies were performed and reviewed. Computed tomography abdomen showed hepatic congestion with features of portal hypertension, increasing size of the RVD on review of serial CTs, and eccentric foci of pericardial calcification. Echocardiography performed for breathlessness demonstrated supranormal early diastolic tissue velocities with average of 19.8 cms-1 and a septal bounce phenomenon on m-mode imaging suggesting constrictive physiology, which triggered a CMR referral. Cardiac magnetic resonance imaging HASTE and right ventricular (RV) outflow tract imaging showed four outpouchings along RV free wall, the largest measuring 4.5 × 2 cm with a sizeable neck. These outpouchings displayed a trabecular network and/or were contractile aiding the diagnosis of diverticula as opposed to aneurysms. Right ventricular function was moderately compromised, whereas left ventricular function was preserved. DISCUSSION: Right ventricular diverticula can be associated with, and potentially be causative of, pericardial thickening and calcification eventually leading to constrictive pericarditis and heart failure.

Incidental extra-cardiac findings on clinical CMR.

AIMS: Cardiac magnetic resonance (CMR) imaging benefits from a large field of view, but consequently captures incidental extra-cardiac findings (IEFs). There is a relative paucity of data for CMR in this regard. Our objectives were to assess the frequency and significance of IEFs reported from clinically indicated CMR scans, and additionally to ascertain if reporting rates differed between radiologist and cardiologist in a 'real-world' setting. METHODS AND RESULTS: A total of 714 patients were included for the study. All patients were referred to a single tertiary cardiac unit for clinically indicated scans. The clinical reports were retrospectively reviewed for reported IEF, and classified as 'minor', or 'major' depending on the need of further investigation or clinical correlation. A total of 180 IEFs were reported in 154 (21.6%) patients. Ninety IEFs were considered minor, and 90 major. Of the latter, eight (1.1%) were considered highly significant. Two hundred scans were reported by a consultant radiologist, and 514 by cardiologists. There was no significant difference in the rates of IEF reporting between the two specialties (P = 0.38). CONCLUSION: IEFs are common, requiring further investigation in a substantial minority. The incidence of highly significant findings in this study was low (∼1%), and similar to the reported incidence in the computed tomography literature. No significant difference was found between the reporting rates of IEFs between different specialties.

Tricuspid regurgitation: contemporary management of a neglected valvular lesion.

Right-sided cardiac valvular disease has traditionally been considered less clinically important than mitral or aortic valve pathology. However, detectable tricuspid regurgitation (TR) is common and recent data suggest that significant TR can lead to functional impairment and reduced survival, particularly in patients with concomitant left-sided valvular disease. The tricuspid valve is a complex anatomical structure and advances in three dimensional echocardiography and cardiac MRI have contributed to a greater understanding of tricuspid valve pathology. These imaging techniques are invaluable in determining the aetiology and severity of TR, and provide an assessment of right ventricular function and pulmonary artery pressure. TR is more prevalent in women and those with a history of myocardial infarction and heart failure. It also occurs in about 10% of patients with rheumatic heart disease. Chronic severe TR may have a prolonged clinical course culminating in the development of fatigue and poor exercise tolerance due to a reduced cardiac output. Approximately 90% of cases of TR are secondary to either pulmonary hypertension or intrinsic right ventricular pathology and about 10% are due to primary tricuspid valve disease. Primary causes such as Ebstein's anomaly, rheumatic disease, myxomatous changes, carcinoid syndrome, endomyocardial fibrosis, and degenerative disease have characteristic morphological features readily identifiable by echocardiography. Ascertaining an accurate right ventricular systolic pressure is important in separating primary from secondary causes as significant TR with a pressure <40 mm Hg implies intrinsic valve disease. Cardiac MRI may be indicated in those with inadequate echocardiographic images and is also the gold standard for the evaluation of right ventricular function and morphology. The assessment of leaflet morphology, annular dimensions, and pulmonary artery pressure are particularly important for determining subsequent management. Along with appropriate treatment of the underlying cause of TR and pulmonary hypertension, management guidelines indicate a move towards more aggressive treatment of TR. In those undergoing left-sided valve surgery, tricuspid valve repair is universally recommended in the presence of severe coexistent TR; in those with isolated severe TR, surgery is recommended in the presence of symptoms or progressive right ventricular dilatation or dysfunction.

Incidental detection of apical hypertrophic cardiomyopathy by myocardial perfusion imaging.

BACKGROUND: Echocardiography plays a central role in the diagnosis of hypertrophic cardiomyopathy (HCM). However, apical involvement of HCM may be missed because of foreshortening and inadequate clinical suspicion. These patients may be referred for single-photon emission computed tomography imaging. METHODS: We present three cases of HCM predominantly involving the cardiac apex, whose diagnosis was first suspected on myocardial perfusion imaging. These patients were referred for chest pain syndromes to exclude significant coronary artery disease. All were undiagnosed on initial routine transthoracic echocardiography, and none were specifically suspected by the referring clinicians. All cases underwent an adenosine stress rest technetium-99m tetrofosmin myocardial perfusion protocol, and were subsequently referred for transpulmonary contrast echocardiography. RESULTS: Single-photon emission computed tomography imaging revealed increased tracer uptake in all cases, most marked in the apical myocardium. Inferior wall ischaemia was detected in one case, consistent with a coronary stenosis seen at angiography. Apical hypokinesia was noted in two patients on gated studies. Contrast echocardiography confirmed the diagnosis of HCM with apical involvement in all cases. CONCLUSION: Echocardiography is the first-line imaging technique for the diagnosis of HCM, but apical involvement may be missed unless a contrast study is performed. The presence of increased apical tracer uptake on perfusion imaging should alert the referring physician to the possibility of apical HCM, irrespective of earlier echocardiographic findings.