MR findings of Non-Compaction Myocardiopathy

Transcription

1 MR findings of Non-Compaction Myocardiopathy Poster No.: C-2158 Congress: ECR 2011 Type: Educational Exhibit Authors: H. Patricio, J. Trigo, A. Botelho, M. Sanches; Coimbra/PT Keywords: Congenital, Diagnostic procedure, MR, Echocardiography, Cardiac DOI: /ecr2011/C-2158 Any information contained in this pdf file is automatically generated from digital material submitted to EPOS by third parties in the form of scientific presentations. References to any names, marks, products, or services of third parties or hypertext links to thirdparty sites or information are provided solely as a convenience to you and do not in any way constitute or imply ECR's endorsement, sponsorship or recommendation of the third party, information, product or service. ECR is not responsible for the content of these pages and does not make any representations regarding the content or accuracy of material in this file. As per copyright regulations, any unauthorised use of the material or parts thereof as well as commercial reproduction or multiple distribution by any traditional or electronically based reproduction/publication method ist strictly prohibited. You agree to defend, indemnify, and hold ECR harmless from and against any and all claims, damages, costs, and expenses, including attorneys' fees, arising from or related to your use of these pages. Please note: Links to movies, ppt slideshows and any other multimedia files are not available in the pdf version of presentations. Page 1 of 15

2 Learning objectives With this presentation, the authors review the etiology and clinical manifestations of noncompaction myocardiopathy. The MRI protocol for studying these patients is reviewed, and the findings in MR imaging and 2D echocardiography are presented. The criteria for an accurate diagnose in both diagnostic techniques are discussed. Page 2 of 15

3 Background Non-compaction of the myocardium is an uncommon cardiomyopathy, previously was called "spongy myocardium", because of its appearance. It is caused by abnormal fetal endomyocardial morphogenesis. 1 - History Non-compaction of the myocardium was initially described as persistence of "sinusoids" in the left ventricule in 1984 by Engberding and Bender, assessed by 2Dechocardiography. In the following years some more cases were reported. Echocardiography showed channel-like structures in a thickened myocardiumof a hypokynetic left ventricule, and angiography showing a honeycomb-like structure of the inner left ventricule wall. In 1990, Chin et al. described a group of 8 patients and, based on better understanding of developmental physiology, suggested that it would be renamed to "isolated noncompaction of the left ventricular myocardium". In 1995 the World Health Organization and of the International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies defined cardiomyopathies as diseases of the myocardium associated with cardiac dysfunction, distinguishing five major disease entities. Non-compaction myocardiopathy was categorized as a unclassified cardiomyopathy, like another diseases such as fibroelastosis, amyloidosis and mitochondrial cardiomyopathies. 2 - Etiology Before the fifth week of intrauterine life, the myocardium forms a loose network of avascular sponge-like meshwork of myocardial fibres and sinusoids which are in continuity with the ventricular cavity. Compaction of the ventricular myocardium, with conversion of the intertrabecular spaces into capillaries, occurs during fifth and eighth gestational weeks, progressing from the epicardium towards the endocardium and from the base towards the apex. In non-compact myocardiopathy there is an arrest in this progress, with remaining noncompact myocardium, most frequently in apical location. Page 3 of 15

4 Non-compaction myocardiopathy can occur sporadically, but may have familial inheritance in up 44%. Therefore, screening the family members is recommended. The pattern of inheritance is generally autosomal dominant. X-linked recessive inheritance has been described with mutations in the G4.5 gene on the Xq28 chromosomal region. Mutations in other genes have also been described. 3 - Clinical manifestations Non-compactiom miocardipathy can arise in either children or adults, and the age of onset of its manifestations is highly variable. Some studies reported showed predominance in males and a mean age at diagnosis of 42 years. The clinical manifestations are mostly related to reduced systolic left ventricular function. The most common are heart failure symptoms, arrhythmias and embolic events. Various patterns of arrhythmias can also be observed, ranging from atrial fibrillation to sustained ventricular tachycardia. 4 - Clinical manifestations Non-compact myocardiopathy is not uncommonly misdiagnosed as apical hypertrophic cardiomyopathy. In these cases, the application of the echocardiographic criteria may help to achieve the correct diagnosis. 5 - Treatment The main emphasis of the clinical treatment is on the treatment of heart failure and arrhythmias and the prevention of thromboembolic events. The treatment of heart failure follows the general guidelines for heart failure treatment. Heart transplantation has been performed successfully for end-stage heart failure. For patients with persistent ventricular tachycardia or patients who have survived an episode of cardiac arrest, the implantation of an implantable cardiac defibrillator (ICD) is indicated as secondary prophylaxis. Page 4 of 15

5 Long-term oral anticoagulation is indicated in patients with arrhythmic anomalies, impaired left ventricular function, or intracardiac thrombi. Page 5 of 15

6 Imaging findings OR Procedure details Echocardiography Because of its availability, the diagnosis of non-compaction myocardiopathy is usually made by echocardiography. The diagnostic criteria were defined by Jenni and Stollberger. Echocardiographic criteria for the diagnosis of non-compaction cardiomyopathy There are at least four prominent trabecula and deep intertrabecular recesses. Blood flow between the cavum of the left ventricle and the recesses is demon- strable with color Doppler ultrasonography or through the use of ultrasonographic contrast medium. The non-compact mural segments have a typical bilaminar structure, and the noncompact subendocardial layer is at least twice as thick as the compact subepicardial layer in systole. Non-compaction is seen mainly at the cardiac apex and in the inferior, central, and lateral portions of the left ventricular wall. No other cardiac abnormalities are present. For best visual differentiation the parasternal short axis at end-systole is used, with the characteristic two-layered structure consisting of a thin, compacted outer (epicardial) layer and a much thicker, non-compacted inner (endocardial) layer. Cardiac apex, inferior and lateral left ventricular walls are the most frequently affected segments and are often hypokinetic. An important differential diagnostic consideration is the presence of prominent trabeculations as a common variant of normal hearts. In the case of poor image quality, contrast echocardiography may be helpful to facilitate the diagnosis. Page 6 of 15

7 Fig. References: - Coimbra/PT Computed tomography (CT) Multi-slice CT can also be used to identify non-compact areas of the left ventricle. Although ultrafast CT provides high-resolution imaging of non-compacted myocardium, it has not been widely used in the diagnosis of non-compaction cardiomyopathy and clear diagnostic criteria have not been established in CT. MRI Recent technological advances have resulted in superior MR image quality of the heart. Although artefacts can be produced by breathing or by cardiac arrhythmia, MRI provides better plannar evaluation of the left ventricule than echocardiography, namely in patients with poor ultrasound window. The MRI protocol for studying non-compaction cardiomiopathy include a combination of T1-weighted imaging and "cine"-weighted imaging in both cardiac long and short axes. Page 7 of 15

8 The affected myocardium segments present a thickened wall with multiple prominent ventricular trabeculations and deep intertrabecular recesses. A decreased ventricular systolic function is usually present. Petersen et al. have compared magnetic resonance images from patients with left ventricular non-compaction with those of healthy controls and of patients with other anomalies such as hypertension or hypertrophic cardiomyopathy, and determined the ratio of non-compacted to compacted myocardium in diastole to be more than 2,3. Fig. References: - Coimbra/PT MR imaging allow a superior visualization of myocardium perhaps of a better transverse alignment of trabeculae to the imaging plane. Page 8 of 15

9 Fig. References: - Coimbra/PT Fig. References: - Coimbra/PT Page 9 of 15

10 Because systole has the effect of obliterating the sinusoids, it is consensually recommended that the non-compacted and compacted myocardium layers to be measured at end-diastole, resulting in higher ratio values than in echocardigraphic criteria taken in systole. Fig. References: - Coimbra/PT Page 10 of 15

11 Fig. References: - Coimbra/PT In our institution, the borderline cases, when the non-compact/compact myocardium ratio is about 2.3, are currently submitted to an annual follow-up. Page 11 of 15

12 Fig. References: - Coimbra/PT Page 12 of 15

13 Conclusion The MRI evaluation for non-compact myocardiopathy is still in progress, but offers an excellent diagnostic visualization myocardium and application of the criteria for this pathology. Because of the clinical awareness and high availability of echocardiography provides a more easily suspicion and diagnosis of this pathology and allows an early treatment and prevention of possible complications. Page 13 of 15

14 Personal Information Page 14 of 15

15 References Complications of non-compaction of the left ventricular myocardium in a paediatric population: a prospective study; Lilje C, Rázek V, Joyce J, Rau T, Finckh B, Weiss F, Habermann C, Rice J, Weil J; European Heart Journal (2006) 27, Isolated Non-Compaction Cardiomyopathy; Engberding R, Stöllberger C, Ong P, Yelbuz T, Gerecke B, Breithardt G; Dtsch Arztebl Int 2010; 107(12): Isolated Ventricular Non-Compaction: An Underdiagnosed Cause of Congestive Heart Failure; Schwartzenberg S, Sherez J, Wexler D, Aviram G, Keren G; IMAJ 2009;11: Isolated ventricular non-compaction of the myocardium in adults; Jenni R, Oechslin E, van der Loo B; Heart 2007;93:11-15 Left ventricular non-compaction: clinical features and cardiovascular magnetic resonance imaging; Yousef Z, Foley P, Khadjooi K, Chalil S, Sandman H, Mohammed N; Leyva F; BMC Cardiovascular Disorders 2009, 9:37 Page 15 of 15