Left Ventricular Non-Compaction Cardiomyopathy: Case Report and Review of Literature

Non-compaction cardiomyopathy (NCC) is characterized by trabeculations in either one or both ventricles. Clinical presentation is highly variable: dyspnea, palpitation, thromboembolic events, arrhythmia, or sudden cardiac death. There are currently no universally-accepted criteria for classifying and diagnosing left ventricular non-compaction (LVNC) cardiomyopathy. Transthoracic echocardiography (TTE) is the diagnostic exam of choice. The diagnosis is often missed or delayed because of a lack of knowledge about this uncommon disease. Progression of LVNC is highly variable and prognosis is very difficult to predict. We report a case of a 50-year-old female patient with a history of total thyroidectomy under hormonal supplementation who consults for dyspnea and paroxysmal palpitations revealing an isolated LVNC. This case emphasizes the importance of imaging techniques, which are, TTE and cardiac magnetic resonance imaging (MRI) in early diagnosis, management, and follow-up.

A Young Healthy Woman with Supraventricular Tachycardia Reveals an Underlying Left Ventricular Non-compaction Cardiomyopathy: A Rare Case Report

LVNC (left ventricular non-compaction) is a rare congenital cardiomyopathy with a reported incidence of 0.05% in adults. It can occur in isolation or affect both ventricles. It’s characterized by prominent LV trabeculae and deep intertrabecular recesses which are filled with blood from the ventricular cavity without evidence of communication to the epicardial coronary artery system. Frequent premature supra ventricular tachycardia as unique finding in LVNC cardiomyopathy is rare manifestation of this disease. We report a case of a frequent persistent supraventricular tachycardia as first manifestation of a patient with LVNC cardiomyopathy in a young healthy woman who despite radio frequency ablation therapy of the supraventricular tachycardia remains symptomatic. The patient was later placed on medical therapy based on a non-cardio selective beta-blocker with a good clinical outcome without recurrent of supra-ventricular arrythmias.

Miocardio no compacto ¿Puede no ser una enfermedad? Razonamiento crítico sobre 140 miocardios no compactos evaluados con resonancia magnética cardiovascular / Non-compacted myocardium: Should it not be considered a disease? Critical thinking on 140 patients with non-compacted myocardium evaluated by cardiovascular magnetic resonance

RESUMEN Para que una alteración física sea considerada una enfermedad, debe cumplir con los criterios definidos por la OMS. El miocardio no compacto (MNC) es una hipertrabeculación ventricular no bien definida, de la que se duda si es una miocardiopatía en sí misma, o solo una variación de la normalidad. Nosotros analizamos 161 resonancias magnéticas cardíacas realizadas a 140 pacientes con MNC y sus relaciones con otras patologías, exponiéndolos a los criterios de "enfermedad" definidos por la OMS. Tras un análisis crítico, consideramos que no debería ser considerada una miocardiopatía en sí misma, sino una adaptación miocárdica ante condiciones adversas.

ABSTRACT For a physical alteration to be considered a disease, it must meet the criteria defined by the WHO. Non-compact myocardium (NCM) is a non-well-defined ventricular hypertrabeculation, where there are doubts whether it is a cardiomyopathy itself or just a variation of normality. We analyzed 161 studies in 140 patients with NCM and their relationships with other pathologies, exposing them to the "disease" criteria defined by the WHO. After a critical analysis, we consider that it should not be considered a cardiomyopathy in itself, but rather a myocardial adaptation to adverse conditions.

Genetic analysis of a family with congenital heart defects caused by chromosome 8p23.1 deletion / 中华医学遗传学杂志

Objective@#To explore the genetic basis for a family affected with congenital heart defects.@*Methods@#G-banding karyotyping, chromosomal microarray analysis (CMA) and multiplex ligation-dependent probe amplification (MLPA) were carried out to detect copy number variants in a patient with left ventricular noncompaction (LVNC) and his fetus.@*Results@#G-banding karyotyping showed the patient was 45, XY, rob(15; 21)(q10; q10)[36]/46, XY[64], while the fetus had an normal karyotype. CMA revealed that both had arr[hg19]8p23.1(11 232 919-11 935 465)×1. MLPA showed both had deletion of all exons of the GATA4 gene.@*Conclusion@#The LVNC of the patient and the ventricular septal defect(VSD) of his fetus may result from the same 8p23.1 deletion, for which GATA4 is probably the key gene.

Miocardiopatía no compactada / Non-compacted cardiomyopathy / Cardiomiopatia não compactada

Resumen: La miocardiopatía no compactada es un trastorno caracterizado por una morfología anómala del miocardio, con una organización en dos capas diferenciadas: una capa fina epicárdica compactada y bien desarrollada, y otra capa endocárdica gruesa de aspecto esponjoso, con trabéculas y recesos intertrabeculares prominentes. En algunos casos se asocia a dilatación ventricular y disfunción sistólica, lo que conduce a insuficiencia cardíaca, arritmias cardíacas y complicaciones tromboembólicas. No está totalmente claro si se trata de una miocardiopatía definida como tal o si es un rasgo fenotípico compartido por muchas otras patologías subyacentes. Para su diagnóstico, la ecocardiografía representa la primera herramienta a emplear, utilizando varios criterios definidos hasta la fecha, aunque con escasa correlación entre ellos. La cardio-resonancia magnética (Cardio-RM), con criterios diagnósticos bien establecidos, trata de superar las limitaciones de la ecocardiografía. El tratamiento se basa en el manejo de las complicaciones según las guías de práctica general. Se han definido recomendaciones en cuanto al despistaje de la misma y el pronóstico es muy variable, si bien el conocimiento que tenemos de la patología hasta la fecha es aún muy limitado.

Summary: Non-compaction cardiomyopathy is a disorder characterized by an anomalous morphology of the myocardium, with an organization in two differentiated layers: a thin and well developed epicardial layer, and another thick endocardial layer of spongy appearance, with prominent trabeculae and intertrabecular recesses. In some cases, it is associated with ventricular dilatation and systolic dysfunction, which leads to heart failure, cardiac arrhythmias and thromboembolic complications. It is not entirely clear whether it is a cardiomyopathy per se or it is really a phenotypic trait shared by many other underlying pathologies. For its diagnosis, echocardiography represents the first tool to be used, with several diagnostic criteria defined to date, although they present little correlation. To help these limitations, cardiac magnetic resonance is also used, which has established criteria too. The treatment is based on the management of complications according to general practice guidelines. Recommendations have been defined regarding the screening of the pathology and the prognosis is very variable, even though the knowledge we have of the pathology to date is still very limited.

Resumo: A cardiomiopatia não compactada é um distúrbio caracterizado por morfologia anômala do miocárdio, com organização em duas camadas diferenciadas: camada fina epicárdica bem desenvolvida e compacta, e outra camada endocárdica espessa de aspecto esponjoso, com trabéculas e recessos intertrabeculares proeminentes. Em alguns casos está associada à dilatação ventricular e disfunção sistólica, o que leva à insuficiência cardíaca, arritmias cardíacas e complicações tromboembólicas. Não está completamente claro se é uma cardiomiopatia definida como tal ou se é um traço fenotípico compartilhado por muitas outras patologias subjacentes. Para o seu diagnóstico, a ecocardiografia representa a primeira ferramenta a ser utilizada, com vários critérios diagnósticos definidos até o momento, embora com pouca correlação entre eles. Ressonância Cardio-Magnética, com critérios diagnósticos bem estabelecidos, tenta superar as limitações da ecocardiografia. O tratamento baseia-se no manejo das complicações de acordo com as diretrizes da prática geral. Definimos recomendações quanto à triagem das mesmas e o prognóstico é muito variável, embora o conhecimento que temos da patologia até o momento ainda seja muito limitado.

Left Ventricular Non-Compaction in an adult with Patent Ductus Arteriosus

Introduction@#Left ventricular non-compaction (LVNC) is a rare form of cardiomyopathy that may occur in isolation or with an associated cardiac anomaly. It presents with a wide array of manifestations, prompting early recognition to be imperative to prevent progression of symptoms.@*Case presentation@#We report a case of a 46-year-old male complaining of palpitations for 10 years who survived sudden cardiac arrest on the same year as symptom onset. Consult was advised but was not done until he had heart failure symptoms. Carvedilol, furosemide and digoxin were given. Initially, some improvement was noted but he later developed dyspnea on exertion prompting consult at our institution. Pertinent physical examination findings include a dynamic precordium, apex beat at sixth left intercostal space-anterior axillary line (LICS AAL), right ventricular heave, distinct heart sounds, normal rate, irregularly irregular rhythm, a grade 4/6 continuous murmur heard best at the left upper sternal border, suggestive of patent ductus arteriosus (PDA), and a grade 3/6 holosystolic murmur at the apex radiating to the axilla, suggestive of mitral regurgitation. Transthoracic echocardiography confirmed presence of a PDA (0.8cm) with left to right shunt and Qp/Qs of 2.7:1. Incidental finding of LVNC was noted characterized by prominent ventricular trabeculations and deep intertrabecular recesses. Optimal medical treatment for heart failure was given with symptomatic relief. Surgical closure of the PDA was contemplated after hemodynamic studies can confirm the absence of irreversible pulmonary hypertension.@*Discussion@#Patients with LVNC may be asymptomatic or may present with heart failure, sudden cardiac death or arrhythmias. The diagnosis of LVNC poses a diagnostic challenge. Echocardiography is a cost-effective diagnostic tool that will allow early diagnosis. Cardiac magnetic resonance (CMR) imaging is an alternative diagnostic modality. Once the diagnosis has been confirmed, prompt initiation of guideline-directed medical treatment for heart failure may prevent progression of disease.@*Conclusion@#Left ventricular non-compaction may occur in isolation or in association with other congenital heart diseases such as patent ductus arteriosus. Closure of a PDA is indicated in the presence of a significant shunt and with confirmation of acute reversibility in the presence of pulmonary hypertension to prevent the possibility of decompensation in a patient with heart failure.

Fetal noncompaction cardiomyopathy and histologic diagnosis of spongy myocardium: case report and review of the literature

Abstract Noncompaction cardiomyopathy (NCCM) and left ventricular noncompaction (LVNC), in their isolated form, are rare cardiomyopathies. They are characterized by a thickened myocardium due to the presence of deep trabeculae recesses, and to thick trabeculae. This condition is associated with a variable clinical phenotype including heart failure, thromboembolism, and sudden death. We report a case of LVNC at 26 weeks and 4 days of gestation revised on the basis of what is currently reported in the literature. A review of the literature was performed to better describe this rare condition. Left ventricular noncompaction is a rare fetal condition and it should be suspected in case of cardiomyopathy.

Ventrículo izquierdo no compacto: panorámica y arritmogenia / Left ventricular non-compaction cardiomyopathy: outlook and cardiac arrhythmias

Las miocardiopatías constituyen un grupo importante y heterogéneo de enfermedades del miocardio asociadas a disfunción mecánica, eléctrica, o ambas. El ventrículo izquierdo no compacto es una miocardiopatía familiar de etiología incierta de la que se desconocen sus exactas incidencia y prevalencia. Se caracteriza por un aumento en la masa trabecular del VI en contraste con una fina capa epicárdica compacta que puede visualizarse con técnicas de imagen que confirman el diagnóstico. En este artículo se describen la clasificación de MOGE(S) para las miocardiopatías, los trastornos electrocardiográficos que pueden encontrarse en pacientes con ventrículo izquierdo no compacto, el papel de la estimulación eléctrica programada del corazón y otros aspectos de interés de esta enfermedad. Además, se presentan algunos trastornos electrocardiográficos demostrativos (criterios de Stollberger y Jenni) encontrados en pacientes afectados

Cardiomyopathies are an important and diverse group of myocardial diseases associated with mechanical, electrical, or both dysfunctions. The left ventricular (LV) non-compaction is a familial cardiomyopathy of uncertain etiology, whose exact incidence and prevalence are unknown. It is characterized by an increase in the trabecular mass of the LV in contrast to a thin compact epicardial layer that can be visualized with imaging techniques that confirm the diagnosis. In this article is described the classification of MOGE (S) for cardiomyopathies, electrocardiographic disorders that can be found in patients with left ventricular non-compaction, the role of programmed electrical stimulation of the heart and other aspects of interest of this disease. In addition, some demonstrative electrocardiographic disorders (Stollberger and Jenni criteria) found in affected patients are presented

Clinical characteristics and prognosis of children with ventricular noncompaction / 中国小儿急救医学

Objective To investigate the clinical features and prognosis in ventricular noncompaction children. Methods Thirty-four cases who diagnosed with ventricular noncompaction were included in this study in Shengjing Hospital of China Medical University from January 2012 to May 2018. According to age, the children were divided into infantile type( age <1 year old) and juvenile type( age≥1 year old) . We ana-lyzed the clinical features,laboratory tests and prognosis. Results The average age at diagnosis was 3 years and 2 months. The sex ratio was 2. 4:1. Of these,32 cases were left ventricular noncompaction,1 was right ventricular noncompaction, and 1 was biventricular noncompaction. There were no statistically significant differences in family history,arrhythmia,and thrombotic events between infantile type and juvenile type. Heart failure was the first reason for most children,while older children often presented with fatigue when at diag-nosis. More than half of them showed significant left ventricular ejection fraction(LVEF) decreasing,and non-compacted layer to compacted layer(N/C) ratio showed negative correlation with LVEF(r= -0. 74, P<0. 001). Sixty-five percent(22/34) of the patients presented abnormal electrocardiogram. During the follow-up,one patient died of pulmonary embolism. No significant LVEF improvement was found in 35％(12/34) of the patient. The COX proportional hazards model showed that N/C ratio was an independent risk factor for poor prognosis of ventricular noncompaction(OR=14. 46,95％CI 1. 712 -120. 234,P<0. 05). Conclusion Children with ventricular noncompaction showed different clinical features and prognosis. Early diagnosis,treatment and long term follow up are key issues for the prognosis.

A Rare Case of Left Ventricular Noncompaction in LEOPARD Syndrome

No abstract available.

Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation

The fact that different types of cardiomyopathies can be manifested by the same sarcomere protein gene mutation in a single family is well known. However, mixed features of different types of cardiomyopathies in a single patient have not been well appreciated. We identified a novel mutation in cardiac troponin I3 (Arg186Gly) in the present case, and two of the family members showed mixed morphologic features of hypertrophic cardiomyopathy and left ventricular non-compaction. Moreover, both the features of cardiomyopathies were not apparent for each type of cardiomyopathy. In the patient's family, four other members had unexpected deaths before the age of 30.

Evaluation of Left Atrial Reservoir Function in Patients with Noncompaction Cardiomyopathy by Using Real-time Three-dimensional Echocardiography / 中国医科大学学报

Objective To assess left atrial reservoir function based on left atrial filling volume,the left atrial expansion index and left atrial ejection fraction (LAEF) were measured in patients with left ventricular non-compaction cardiomyopathy (LVNC),using real-time three-dimensional echocardiography (RT3DE),to determine the value for LVNC diagnosis.Methods The study included 20 patients diagnosed with LVNC,including 3 patients,aged 4-16 years;8 patients,aged 17-35 years;9 patients,aged 36-55 years;and 20 healthy age-matched control subjects.All patients underwent two-dimensional echocardiography and RT3DE.Results Two-dimensional echocardiography showed no differences between groups (P ＞ 0.05).RT3DE analysis showed that the average left atrial filling volume/BSA,left atrial expansion index,and LAEF were significantly higher in the LVNC group.Conclusion LVNC is associated with increased left atrial reservoir function.RT3DE shows promise for the diagnosis of LVNC.

Left ventricular noncompaction and gene mutation / 国际儿科学杂志

Left ventricular noncompaction(LVNC) is a relatively rare cardiomyopathy due to the cessa tion of endocardial and myocardial cells in the early embryo development.The disease mainly is involved in the left ventricle.LVNC is sporadic or familial genetic disease,which has obvious genetic heterogeneity.It is X linkage and autosomal dominant inheritance.The genetic characteristics of LVNC are not single inheritance,and its pathogenic gene and mutation site are diverse.It has been shown that LVNC has a close correlation with multiple gene mutations,and it is also overlap with the genes that caused other cardiomyopathy.In this paper,we will review the research progress of LVNC and related gene mutations.

Caracterización clínica y por imágenes de pacientes con el ventrículo izquierdo no compacto / Imaging clinical characterization of patients with left ventricular noncompaction

Objetivos: El ventrículo izquierdo no compacto es cada vez más diagnosticado en el mundo con impacto significativo en la morbimortalidad. No existen registros en el medio local que describan el perfil de los pacientes afectados. El objetivo es describir las características: demográficas, clínicas e imagenológicas de los pacientes diagnosticados con el ventrículo izquierdo no compacto en un registro regional. Métodos: Estudio descriptivo de corte transversal que incluyó pacientes con sospecha del ventrículo izquierdo no compacto por la ecocardiografía y confirmación con la resonancia magnética contrastada. Se evaluaron las historias clínicas e imágenes de los pacientes obtenidas desde el año 2006 hasta el año 2013. Se analizan las características: demográficas, clínicas e imagenológicas. La caracterización anatómica y la fracción de eyección se basaron en la resonancia magnética contrastada. Resultados: Fueron incluidos 33 pacientes con diagnóstico del ventrículo izquierdo no compacto por la resonancia magnética contrastada. El promedio de edad fue 21,9 ± 19,8 años, siendo la población pediátrica la más representativa (30,3% de 1 a 10 años y 30,3% de 11 a 20 años). Hubo concordancia diagnóstica entre la ecocardiografía y la resonancia magnética contratada del 63,6%; los síntomas más frecuentes fueron: la disnea, el dolor torácico y las palpitaciones (78,8, 36,4 y 33,3%, respectivamente). La insuficiencia cardiaca fue el síndrome prevalente al diagnóstico (51,5%). La mayoría de los pacientes tenían fracción de eyección del ventrículo izquierdo £40% (57,6%), fracción de eyección del ventrículo izquierdo normal el 21,2%. Las paredes apicolaterales fueron las más comprometidas (48,3%). Los síntomas y la presencia de embolismo tuvieron relación con la severidad de la disfunción sistólica. Conclusiones: El ventrículo izquierdo no compacto es un diagnóstico cada vez más frecuente en el medio local y su presentación y evolución son similares a series de otros países. La sospecha de la ecocardiografía guarda correlación con los hallazgos en la resonancia magnética. El diagnóstico suele hacerse en infantes y adolescentes en estadios avanzados.

Motivation: Left ventricular noncompation is increasingly diagnosed in the world, with a significant impact on morbidity and mortality. There is no local register describing the profile of affected patients. The goal is to describe demographic, clinical and imaging characteristics of patients diagnosed with left ventricular noncompaction in a regional register. Methods: Cross-sectional descriptive study including patients with left ventricular noncompaction suspicion due to an echocardiogram, confirmed with a magnetic resonance with contrast. Patients’ medical records and images obtained between 2006 and 2013 were assessed. Demographic, clinical and imaging characteristics were analyzed. Anatomical characterization and ejection fraction were based on the magnetic resonance. Results: 33 patients diagnosed with left ventricular noncompaction via magnetic resonance were included. The average age was 21.9 ± 19.8, pediatric population was the most representative (30.3% between 1 and 10 years old and 30.3% between 11 and 20 years old). There was a 63% diagnostic coincidence between echocardiogram and magnetic resonance; most common symptoms were dyspnea, chest pain and palpitations (78,8, 36.4, 33.3% respectively). Cardiac failure was the syndrome prevalent to diagnosis (51.5%). Most patients suffered from left ventricular noncompaction <40% (57.6%), normal left ventricular noncompaction 21.2%. Apical lateral walls were the most compromised (48.3%). The symptoms and presence of an embolism were more related to the severity of the systolic dysfunction. Conclusions: Left ventricular noncompaction is an increasingly common diagnosis in the local area and its presentation and progress are similar to series from other countries. Suspicion in the echocardiogram is correlated to findings in the magnetic resonance. Diagnosis in infants and adolescents is usually reached at an advanced stage.

Anesthetic experience of patient with isolated left ventricular noncompaction: a case report / 대한마취과학회지

Isolated left ventricular noncompaction (LVNC) is a rare primary genetic cardiomyopathy characterized by prominent trabeculation of the left ventricular wall and intertrabecular recesses. Perioperative management of the patient with LVNC might be challenging due to the clinical symptoms of heart failure, systemic thromboembolic events, and fatal left ventricular arrhythmias. We conducted real time intraoperative transesophageal echocardiography in a patient with LVNC undergoing general anesthesia for ovarian cystectomy.

Isolated Right Ventricular Noncompaction Accompanied by Right Ventricular Failure / 대한내과학회지

Noncompaction of the ventricular myocardium is a rare congenital cardiomyopathy caused by arrest of normal endomyocardial embryogenesis. Isolated right ventricular noncompaction (IRNC) is an even rarer form of this disease. We report herein on a 68 year-old male diagnosed with IRNC who presented with right-sided heart failure, without involvement of the left ventricle. Diagnosis was achieved with the aid of echocardiography and ventriculography. Medical treatment including prescription of diuretics, a calcium channel blocker, and digitalis, improved both the symptoms and right ventricular function.

Left Ventricular Noncompaction: A Rare Cause of Heart Failure in a HIV Patient.

Background: Heart failure in patients with human immunodeficiency virus (HIV) is often from dilated cardiomyopathy as a result of HIV itself, drug myotoxicity, secondary infections, or druginduced atherosclerosis. Left ventricular noncompaction (LVNC) is a rare cardiac congenital abnormality which occurs due to early arrest of endomyocardial morphogenesis. Case: A 47- year-old female patient with HIV presented with sudden onset shortness of breath and symptoms of congestive heart failure. Echocardiography showed noncompacted endocardium with reduced left ventricular function. She was subsequently diagnosed with LVNC. Discussion: Multiple etiologies have been implicated in cardiomyopathy among HIV patients. LVNC is a rare cause of left ventricular failure, particularly in this population. Echocardiography plays a pivotal role in the diagnosis. Conclusion: It is often challenging to identify the underlying cause of cardiomyopathy in a patient with HIV. While LVNC is a rare cause of left ventricular failure, typical findings on echocardiography can obviate the need for a more complex evaluative strategy.

Isolated Left Ventricular Noncompaction with a Congenital Aneurysm Presenting with Recurrent Embolism

Isolated left ventricular noncompaction (LVNC) is a rare disorder caused by embryonic arrest of compaction. LVNC is sometimes associated with other congenital cardiac disorders; however, there have been few reports of its coexistence with a left ventricular aneurysm. A 40-year-old woman was admitted to our hospital for renal infarction. She had a history of embolic cerebral infarction 10 years ago. Transthoracic echocardiography showed prominent trabeculae and deep intertrabecular recesses which are filled with blood from the left ventricular (LV) cavity. A thrombus in the akinetic apical wall was confirmed by contrast echocardiography. Using cardiac computed tomography and magnetic resonance imaging, we rejected a possible diagnosis of suspicion of coronary artery disease. She was diagnosed LVNC with a thrombus in apical aneurysm. Here, we report the first patient in Korea known to have LVNC accompanying LV congenital aneurysm presenting with recurrent embolism.

Ventrículo izquierdo no compacto / Left ventricular noncompaction

El ventrículo izquierdo no compacto (VINC) o "esponjoso", es una cardiomiopatía recientemente descrita y reconocida con implicaciones pronósticas importantes. Se caracteriza por la presencia de un miocardio ancho con nichos intertrabeculares profundos sobre el lado endocavitario, llevando a hipertrabeculación. Aunque la etiología es desconocida, se ha descrito una importante agregación familiar y una superposición de esta patología con otras cardiopatías de carácter genético como la cardiomiopatía dilatada (CMD) y la cardiomiopatía hipertrófica (CMH). Desde el punto de vista clínico se presenta como un síndrome de falla cardiaca, aunque puede debutar con muerte súbita, arritmias o embolismo sistémico. En la actualidad la herramienta diagnóstica de mayor utilidad es la ecocardiografía, por sus menores costos, reproducibilidad y disponibilidad en forma extensa en los servicios médicos. Sin embargo, se ha demostrado una mayor certeza diagnóstica con la resonancia magnética cardiaca (RMC). El tratamiento de estos pacientes no difiere del recomendado para pacientes con síndrome de falla cardiaca de otras etiologías. (Acta Med Colomb 2011; 36: 187-195).

Left ventricular noncompaction (LVNC), or "spongy" cardiomyopathy, is a recently described and recognized finding with important prognostic implications. It is characterized by the presence of ventricular trabeculations and deep intertrabecular recesses on the endocavitary side, leading to hypertrabeculation. Although the etiology is unknown, a significant family aggregation of this disease as well as overlap with other genetic cardiomyopathies such as dilated cardiomyopathy and hypertrophic cardiomyopathy have been described. From the clinical point of view, LVNC often presents as heart failure, but may present with sudden death, arrhythmias and systemic embolism. At the present time the most useful diagnostic tool is transthoracic echocardiography because of its lower cost, reproducibility and availability, though cardiac magnetic resonance (CMR) imaging has shown greater diagnostic accuracy. Treatment of these patients is no different than that recommended for patients with heart failure syndromes of other etiologies. (Acta Med Colomb 2011; 36: 187-195).