Non-Compaction Cardiomyopathy and Multiple Sclerosis: Associated or Independent Diseases? A Case Report.

Non-compaction cardiomyopathy (NCCM) is associated with neuromuscular disorders; however, there has been little investigation on its association with other neurological diseases, such as multiple sclerosis. We present the case of a 46-year-old woman with a history of multiple sclerosis who developed heart failure and was diagnosed with non-compaction cardiomyopathy.

Intraventricular synchronism assessment by gated-SPECT myocardial perfusion imaging in cardiac resynchronization therapy. Does cardiomyopathy type influence results?

PURPOSE: To analyze the evolution post-cardiac resynchronization therapy (CRT) in left ventricular non-compaction (LVNC) cardiomyopathy (CM) patients compared to other types of CM, according to clinical and functional variables, by using gated-SPECT myocardial perfusion imaging (MPI). METHODS: Ninety-three patients (60 ± 11 years, 28% women) referred for pre-CRT assessment were studied and divided into three groups: 1 (non-ischemic CM with LVNC, 11 patients), 2 (ischemic CM, 28 patients), and 3 (non-ischemic CM, 53 patients). All were studied by a 99mTc-MIBI gated-SPECT MPI at rest pre-CRT implantation and 6 ± 1 months after, including intraventricular dyssynchrony assessment by phase analysis. Quality of life was measured by the Minnesota Living with Heart Failure Questionnaire (MLHFQ). RESULTS: No differences in sex, atherosclerotic risk factors other than smoking habit, and MLHFQ results were found among groups. LVNC CM patients were younger, with greater QRS width and lower left ventricular ejection fraction (LVEF) at baseline, but the differences were not significant. No significant differences were found at baseline regarding ventricular function, although end-systolic volume was slightly higher in LVNC CM patients. Mean SRS was significantly higher (p < 0.0001) in ischemic patients (14.9) versus non-ischemic ones (8.7 in group 1 and 9 in group 2). At baseline, LVNC CM patients were significantly more dyssynchronous: Their phase standard deviation (PSD) was higher (89.5° ± 14.2°) versus groups 2 (65.2° ± 23.3°) and 3 (69.7° ± 21.7°), p = 0.007. Although the quality of life significantly improved in all groups, non-ischemic patients (with or without LVNC) showed a higher LVEF increase and volumes reduction at 6 months post-CRT. Dyssynchrony reduced post-CRT in all groups. Nevertheless, those more dyssynchronous at baseline (LVNC CM) exhibited the most significant intraventricular synchronism improvement: PSD was reduced from 89.5° ± 14.2° at baseline to 63.7° ± 20.5° post-CRT (p = 0.028). Six months post-CRT, 89% of patients were responders: 11 (100%) of those with LVNC CM, 25 (86%) of those with ischemic CM, and 47 (89%) of patients with non-ischemic CM. No patient with LVNC CM had adverse events during the follow-up. CONCLUSION: CRT contributes to a marked improvement in non-ischemic CM patients with non-compaction myocardium. Phase analysis in gated-SPECT MPI is a valuable tool to assess the response to CRT.

Biventricular imaging markers to predict outcomes in non-compaction cardiomyopathy: a machine learning study.

AIMS: Left ventricular non-compaction cardiomyopathy (LVNC) is a genetic heart disease, with heart failure, arrhythmias, and embolic events as main clinical manifestations. The goal of this study was to analyse a large set of echocardiographic (echo) and cardiac magnetic resonance imaging (CMRI) parameters using machine learning (ML) techniques to find imaging predictors of clinical outcomes in a long-term follow-up of LVNC patients. METHODS AND RESULTS: Patients with echo and/or CMRI criteria of LVNC, followed from January 2011 to December 2017 in the heart failure section of a tertiary referral cardiologic hospital, were enrolled in a retrospective study. Two-dimensional colour Doppler echocardiography and subsequent CMRI were carried out. Twenty-four hour Holter monitoring was also performed in all patients. Death, cardiac transplantation, heart failure hospitalization, aborted sudden cardiac death, complex ventricular arrhythmias (sustained and non-sustained ventricular tachycardia), and embolisms (i.e. stroke, pulmonary thromboembolism and/or peripheral arterial embolism) were registered and were referred to as major adverse cardiovascular events (MACEs) in this study. Recruited for the study were 108 LVNC patients, aged 38.3 ± 15.5 years, 48.1% men, diagnosed by echo and CMRI criteria. They were followed for 5.8 ± 3.9 years, and MACEs were registered. CMRI and echo parameters were analysed via a supervised ML methodology. Forty-seven (43.5%) patients had at least one MACE. The best performance of imaging variables was achieved by combining four parameters: left ventricular (LV) ejection fraction (by CMRI), right ventricular (RV) end-systolic volume (by CMRI), RV systolic dysfunction (by echo), and RV lower diameter (by CMRI) with accuracy, sensitivity, and specificity rates of 75.5%, 77%, 75%, respectively. CONCLUSIONS: Our findings show the importance of biventricular assessment to detect the severity of this cardiomyopathy and to plan for early clinical intervention. In addition, this study shows that even patients with normal LV function and negative late gadolinium enhancement had MACE. ML is a promising tool for analysing a large set of parameters to stratify and predict prognosis in LVNC patients.

Use of sacubitril/valsartan in non-compaction cardiomyopathy: a case report.

The use of sacubitril/valsartan significantly reduces death or hospitalization in patients with ejection fraction < 40%. There is no study evaluating this drug effects in non-compaction cardiomyopathy (NCCM) individuals. The aim of this article is to report a case of a patient with NCCM initially refractory to gold standard treatment and afterwards treated with sacubitril/valsartan and its improvements. This is a case report of a 48-year-old woman, presenting with NCCM heart failure, who had received standard guideline-directed medical therapy for 18 months without any improvement in clinical and echocardiographic parameters. After that period, sacubitril/valsartan was initiated. After 18 months of refractory usage of guideline-directed medical therapy, sacubitril/valsartan was started, and significant change in functional class (III to I) and important ventricular remodelling were achieved with an improvement of 29% in the ejection fraction, reduction of 7 mm in ventricular diastolic diameter, and mild to none mitral valve functional regurgitation. In this case report, sacubitril/valsartan use was associated with improvement of echocardiographic and clinical parameters in a patient with NCCM.

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.

Terapia de resincronización cardíaca: un paciente con extrema disfunción ventricular y múltiples comorbilidades / Cardiac resynchronization therapy: a patient with extreme ventricular dysfunction and multiple comorbidities

Resumen Se presenta el caso de un varón de 56 años con cardiomiopatía no compactada y muy severa disfunción ventricular, con trastorno de conducción intraventricular y QRS ancho. Adolecía de comorbilidades incluyendo nefropatía diabética termi nal (en diálisis) y nunca pudo recibir terapia médica óptima por hipotensión e hiperkalemia. Con indicación IIa para terapia de resincronización cardíaca se le implantó resincronizador con desfibrilador, con respuesta aguda clínica y ecocardiográ fica excelente. Falleció a los tres meses del implante por asistolia que no pudo ser rescatada por el dispositivo. Es nuestra opinión que la presencia de comorbilidades graves y la imposibilidad de dar terapia médica óptima son una limitante para el éxito a mediano y largo plazo de la terapia de resincronización.

Abstract We present the case of a 56-year-old man with non-compaction cardiomyopathy and very severe ventricular dysfunction, with intraventricular conduction disorder and wide QRS. He suffered from comorbidities including terminal diabetic nephropathy (on dialysis) and was never able to receive optimal medical therapy for hypotension and hyperkalemia. With indication IIa for cardiac resynchronization therapy, a resynchronizer with a defibrillator was implanted, with an acute clinical and excellent echocardiographic response. He died three months after the implant due to asystole that could not be rescued by the device. It is our opinion that the presence of severe comorbidities and the impossibility of giving optimal medical therapy are a limitation for the medium and long-term success of the resynchronization therapy.

A Rare Case of Non-compaction Cardiomyopathy in an Indo-Caribbean Patient / Un raro caso de cardiomiopatía no compactada en un paciente indo-caribeño

ABSTRACT Non-compaction cardiomyopathy is a rare form of cardiac disease that presents with symptoms of congestive heart failure, ventricular arrhythmias or thromboembolism. Within the Caribbean setting, there are limited data regarding its existence. We present a case of non-compaction cardiomyopathy, diagnosed by transthoracic echocardiogram and cardiac magnetic resonance imaging, with the use of established criteria. It is interesting to highlight such a condition within the small Caribbean population, especially given its link to heritability and the ease with which it can be mistaken for a dilated cardiomyopathy.

RESUMEN La miocardiopatía no compactada o espongiforme es una forma rara de enfermedad cardíaca que se presenta con síntomas de insuficiencia cardíaca congestiva, arritmias ventriculares o tromboembolismos. En el entorno caribeño, hay datos limitados sobre su existencia. Presentamos un caso de cardiomiopatía no compactada, diagnosticada mediante ecocardiograma transtorácico y resonancia magnética cardíaca, con el uso de criterios establecidos. Es interesante destacar tal condición dentro de la pequeña población caribeña, especialmente dada su relación con la heredabilidad y la facilidad con la que se le puede confundir con una miocardiopatía dilatada.

Decreased glycolytic metabolism in non-compaction cardiomyopathy by 18F-fluoro-2-deoxyglucose positron emission tomography: new insights into pathophysiological mechanisms and clinical implications.

AIMS: The pathophysiological mechanisms of left ventricular non-compaction cardiomyopathy (LVNC) remain controversial. This study performed combined 18F-fluoro-2-deoxyglucose dynamic positron emission tomography (FDG-PET) and 99mTc-sestamibi single-photon emission computed tomography (SPECT) studies to evaluate myocardial glucose metabolism and perfusion in patients with LVNC and their clinical implications. METHODS AND RESULTS: Thirty patients (41 ± 12 years, 53% male) with LVNC, diagnosed by cardiovascular magnetic resonance (CMR) criteria, and eight age-matched healthy controls (42 ± 12 years, 50% male) were prospectively recruited to undergo FDG-PET with measurement of the myocardial glucose uptake rate (MGU) and SPECT to investigate perfusion-metabolism patterns. Patients with LVNC had lower global MGU compared with that in controls (36.9 ± 8.8 vs. 44.6 ± 5.4 µmol/min/100 g, respectively, P = 0.02). Of 17 LV segments, MGU levels were significantly reduced in 8, and also a reduction was observed when compacted segments from LVNC were compared with the segments from control subjects (P < 0.001). Perfusion defects were also found in 15 (50%) patients (45 LV segments: 64.4% match, and 35.6% mismatch perfusion-metabolism pattern). Univariate and multivariate analyses showed that beta-blocker therapy was associated with increased MGU (beta coefficient = 10.1, P = 0.008). Moreover, a gradual increase occurred in MGU across the beta-blocker dose groups (P for trend = 0.01). CONCLUSION: The reduction of MGU documented by FDG-PET in LVNC supports the hypothesis that a cellular metabolic pathway may play a role in the pathophysiology of LVNC. The beneficial effect of beta-blocker mediating myocardial metabolism in the clinical course of LVNC requires further investigation.

Spectrum of Cardiac Arrhythmias in Isolated Ventricular Non-Compaction.

A wide spectrum of cardiac arrhythmias has been observed in patients with isolated ventricular non-compaction, which is defined by hypertrabeculated ventricular myocardium with deep intertrabecular recesses, in the absence of concomitant congenital heart disease. In this genetically diverse phenotype, the development of fibrosis contributes to an arrhythmogenic substrate underlying atrioventricular conduction diseases, supraventricular tachycardias and ventricular tachycardias. Within this spectrum, monomorphic ventricular tachycardia is the most frequently observed arrhythmia, and this prevalence has important implications for sudden cardiac death risk.

Left ventricle non-compaction cardiomyopathy: Different clinical scenarios and magnetic resonance imaging findings / Miocardiopatía no compactada: diferentes escenarios clínicos y hallazgos en cardiorresonancia magnética

Left ventricle non-compaction cardiomyopathy is currently considered as a well-defined individual entity. However, it includes a broad spectrum of clinical, radiological and pathophysiological findings. In this review we describe 3 different scenarios of this entity: an isolated case with severe left ventricle dysfunction, an "associated" case in a patient with previous atrial septum defect and pulmonary stenosis and finally, as a finding in a patient with a transient cerebrovascular ischemic attack. In the 2 last cases, both asymptomatic, morphological criteria of left ventricle non-compaction were found but, ventricular function was normal and cardiac-MRI showed no late gadolinium hyperenhancement. Periodical follow-up and familial screening were recommended. Natural history and prognosis factors of this disease are still not well known. Further and longer series of patients with this diagnosis are needed to completely define radiological criteria, clinical presentation and evolution.

La miocardiopatía no compactada está considerada actualmente como una entidad independiente y bien definida. Sin embargo, presenta un espectro amplio de hallazgos clínicos, radiológicos y fisiopatológicos. En la presente revisión describimos 3 escenarios clínicos diferentes de dicha entidad: un caso con disfunción ventricular severa, un caso como entidad «asociada¼ a una cardiopatía congènita en un pacientes con un defecto del septo interauricular previo y estenosis pulmonar, y finalmente, como un hallazgo casual en un paciente con un accidente cerebrovascular transitorio. En estos 2 últimos casos se encontraron criterios morfológicos de miocardiopatía no compactada con función ventricular normal y sin presencia de realce tardío de gadolinio en el estudio de cardio-RM. En todos ellos se recomendó estudio familiar. La historia natural y el pronóstico de esta anatomía patológica no son todavía del todo conocidos. Series mayores y seguimiento más largos son necesarios para definir completamente los criterios radiológicos, la presentación clínica y la evolución de esta fascinante entidad.

Miocárdio não-compactado como diagnóstico diferencial de cardiomiopatia periparto: A propósito de um caso

A cardiomiopatia periparto (CMPP) é uma das causas comuns de cardiomiopatia secundária de etiologia desconhecida. Caracteriza-se pela presença de insuficiência cardíaca congestiva (ICC) materna, no último mês de gestação ou até cinco meses pós-parto, com disfunção ventricular sistólica esquerda, na ausência de outras causas de insuficiência cardíaca e em mulheres previamente saudáveis. A terapêutica médica consiste no bloqueio neuro-hormonal, suporte inotrópico, redução da pré e pós-carga cardíaca e anticoagulação. O transplante cardíaco está reservado aos casos graves e refratários à terapêutica medicamentosa. O prognóstico é variável: aproximadamente 50-60% das pacientes recuperam completamente a função cardíaca, na maioria das vezes dentro dos primeiros seis meses. Relata-se um caso de mulher negra, 37 anos, multípara, pré-natal sem intercorrências, sem comorbidades prévias ou uso de drogas, que desenvolveu um quadro de ICC, de instalação súbita, com disfunção ventricular comprovada ao ecocardiograma 15 dias após parto normal. Houve suspeição clínica de miocárdio não-compactado (MNC) que levou a dúvida quanto ao diagnóstico de CMPP, posto ser esta um diagnóstico de exclusão. A presença de MNC foi afastada pela ressonância nuclear magnética cardíaca.

La miocardiopatía periparto (MCPP) es una causa frecuente de miocardiopatía secundaria de etiología desconocida. Se caracteriza por la presencia de insuficiencia cardíaca congestiva (ICC) en la madre en el último mes del embarazo o hasta cinco meses después del parto, con disfunción sistólica del ventrículo izquierdo en ausencia de otras causas de insuficiencia cardíaca en mujeres previamente sanas. El tratamiento médico consiste en el bloqueo neurohormonal, soporte inotrópico, la reducción de la pre y post-carga cardíaca y anticoagulación. El trasplante cardíaco está reservado para casos graves y refractarios al tratamiento farmacológico. El pronóstico es variable: aproximadamente el 50-60% de las pacientes recuperan completamente la función cardíaca, en la mayoría de los casos en los primeros seis meses. Se presenta el caso clínico de una mujer de raza negra de 37 años, multípara, prenatal sin complicaciones, sin comorbilidades previas o uso de drogas, que desarrollo ICC, de aparición súbita, con disfunción ventricular demostrada en el ecocardiograma 15 días después de un parto normal. No había sospecha clínica de miocardiopatía no compactada (MNC) que dio lugar a duda sobre el diagnóstico de MCPP, ya que éste es un diagnóstico de exclusión. La presencia de MNC fue descartada por resonancia magnética nuclear cardíaca.

Peripartum cardiomyopathy (PPCM) is a common cause of secondary cardiomyopathy of unknown etiology. It is characterized by the presence of congestive heart failure (CHF) in the mother in the last month of pregnancy or until five months after birth with left ventricular systolic dysfunction in the absence of other causes of heart failure in previously healthy women. Medical treatment consists of neurohormonal blockade, inotropic support, reduced pre-and post-cardiac load and anticoagulation. Heart transplantation is reserved for severe cases refractory to medical therapy. The prognosis is variable: approximately 50-60% of patients recover full cardiac function, in most cases in the first six months. We report the case of a black woman of 37 years, multiparous, prenatal without complications, comorbidities or previous drug use that developed CHF, sudden onset, demonstrated ventricular dysfunction on echocardiography 15 days after childbirth normal. There was no clinical suspicion of non-compaction cardiomyopathy (NCC) which gave rise to doubt about the diagnosis of PPCM, since this is a diagnosis of exclusion. The presence of NCC was ruled out by cardiac magnetic resonance imaging.

Miocárdio nÒo-compactado como diagnóstico diferencial de cardiomiopatia periparto: A propósito de um caso

A cardiomiopatia periparto (CMPP) é uma das causas comuns de cardiomiopatia secundária de etiologia desconhecida. Caracteriza-se pela presenþa de insuficiÛncia cardíaca congestiva (ICC) materna, no último mÛs de gestaþÒo ou até cinco meses pós-parto, com disfunþÒo ventricular sistólica esquerda, na ausÛncia de outras causas de insuficiÛncia cardíaca e em mulheres previamente saudáveis. A terapÛutica médica consiste no bloqueio neuro-hormonal, suporte inotrópico, reduþÒo da pré e pós-carga cardíaca e anticoagulaþÒo. O transplante cardíaco está reservado aos casos graves e refratários O terapÛutica medicamentosa. O prognóstico é variável: aproximadamente 50-60% das pacientes recuperam completamente a funþÒo cardíaca, na maioria das vezes dentro dos primeiros seis meses. Relata-se um caso de mulher negra, 37 anos, multípara, pré-natal sem intercorrÛncias, sem comorbidades prévias ou uso de drogas, que desenvolveu um quadro de ICC, de instalaþÒo súbita, com disfunþÒo ventricular comprovada ao ecocardiograma 15 dias após parto normal. Houve suspeiþÒo clínica de miocárdio nÒo-compactado (MNC) que levou a dúvida quanto ao diagnóstico de CMPP, posto ser esta um diagnóstico de exclusÒo. A presenþa de MNC foi afastada pela ressonÔncia nuclear magnética cardíaca.(AU)

La miocardiopatía periparto (MCPP) es una causa frecuente de miocardiopatía secundaria de etiología desconocida. Se caracteriza por la presencia de insuficiencia cardíaca congestiva (ICC) en la madre en el último mes del embarazo o hasta cinco meses después del parto, con disfunción sistólica del ventrículo izquierdo en ausencia de otras causas de insuficiencia cardíaca en mujeres previamente sanas. El tratamiento médico consiste en el bloqueo neurohormonal, soporte inotrópico, la reducción de la pre y post-carga cardíaca y anticoagulación. El trasplante cardíaco está reservado para casos graves y refractarios al tratamiento farmacológico. El pronóstico es variable: aproximadamente el 50-60% de las pacientes recuperan completamente la función cardíaca, en la mayoría de los casos en los primeros seis meses. Se presenta el caso clínico de una mujer de raza negra de 37 años, multípara, prenatal sin complicaciones, sin comorbilidades previas o uso de drogas, que desarrollo ICC, de aparición súbita, con disfunción ventricular demostrada en el ecocardiograma 15 días después de un parto normal. No había sospecha clínica de miocardiopatía no compactada (MNC) que dio lugar a duda sobre el diagnóstico de MCPP, ya que éste es un diagnóstico de exclusión. La presencia de MNC fue descartada por resonancia magnética nuclear cardíaca.(AU)

Peripartum cardiomyopathy (PPCM) is a common cause of secondary cardiomyopathy of unknown etiology. It is characterized by the presence of congestive heart failure (CHF) in the mother in the last month of pregnancy or until five months after birth with left ventricular systolic dysfunction in the absence of other causes of heart failure in previously healthy women. Medical treatment consists of neurohormonal blockade, inotropic support, reduced pre-and post-cardiac load and anticoagulation. Heart transplantation is reserved for severe cases refractory to medical therapy. The prognosis is variable: approximately 50-60% of patients recover full cardiac function, in most cases in the first six months. We report the case of a black woman of 37 years, multiparous, prenatal without complications, comorbidities or previous drug use that developed CHF, sudden onset, demonstrated ventricular dysfunction on echocardiography 15 days after childbirth normal. There was no clinical suspicion of non-compaction cardiomyopathy (NCC) which gave rise to doubt about the diagnosis of PPCM, since this is a diagnosis of exclusion. The presence of NCC was ruled out by cardiac magnetic resonance imaging.(AU)

Evaluación de la miocardiopatía no compactada con resonancia magnética cardíaca en pacientes con función sistólica del ventrículo izquierdo conservada y disminuida / Evaluation of non-compaction cardiomyopathy with cardiac magnetic resonance imaging in patients with preserved and decreased left ventricular systolic function

Objective: Non-compaction cardiomyopathy (NCC) is a genetic disorder characterized by the presence of an extensive trabecular layer of myocardium with intertrabecular recesses in communication with the ventricular cavity. The objective of this study is to evaluate the clinical and morphological characteristics of patients with NCC with and without systolic dysfunction assessed by cardiac magnetic resonance (CMR) imaging, as well as to discuss the value and limitations of echocardiography and CMR imaging in its diagnosis. Twenty patients diagnosed with NCC were retrospectively included. Studies were performed on a 1.5 Tesla resonator. The end-diastolic volume (LVEDV) and end-systolic volumen (LVESV), end-diastolic diameter (LVEDD) and end-systolic diameter (LVESD), left ventricular ejection fraction (LVEF), cardiac mass and LV trabeculations were determined. A 17-segment myocardium segmentation model was applied. Student s T test was used to compare variables between groups. Significance level was set at p <0.05. Correlation between 2 continuous variables was calculated using the linear regression model. The statistical software package used for data analysis was StatsDirect (Version 2.6.5,. Altrincham, UK. Results: The average thickness of NC myocardial segments and normal myocardium was 13.1 +/- 3.3 mm and 3.6 +/- 0.6 mm, respectively. The average number of myocardial segments with NC was 8.2 +/- 1.2. The more affected segments were the apex of the heart and the lateral segments at the apical and mid-ventricular level. LVEDD, LVEDV, global LV mass, compacted and trabeculated, were significantly increased in the group of patients with ventricular dysfunction. LVEF had a negative linear correlation with trabecular myocardal mass (MM)/ m2 (R = 0.67, p = 0.001), LVEDV /m2 (R = 0.77, p <0.001) and LVEDD/m2 (R = 0.7, p <0.001). Similarly, a negative linear correlation between LVTM/m² and LVEDV/m² (R = 0.76, p < 0.001) was observed. Conclusion: In our population...

Objetivos: La miocardiopatía no compactada (MNC) es un desorden genético caracterizado por la presencia de una extensa capa de miocardio trabeculado con recesos intertrabeculares comunicados con la cavidad ventricular. El objetivo del trabajo es evaluar las características clínicas y morfológicas de los pacientes con MNC con y sin disfunción sistólica evaluados por resonancia magnética cardíaca (RMC), y poner en discusión los alcances y las limitaciones de la ecocardiografía y la RMC en su diagnóstico. Material y métodos: Se incluyeron en forma retrospectiva 20 pacientes con diagnóstico de MNC. Los estudios se realizaron en un resonador de 1.5 Tesla. Se determinaron: volumen de fin de diástole (VFDVI) y sístole, diámetro de fin de diástole (DFDVI) y sístole, fracción de eyección (FEVI), masa cardíaca y trabeculaciones del VI. La distribución del miocardio NC se llevó a cabo con el modelo de 17 segmentos miocárdicos. Se empleó el test de Student para comparar las variables entre ambos grupos. El nivel de significancia fue establecido en p < 0,05. La correlación entre 2 variables continuas se calculó usando el modelo de regresión lineal. Los análisis se realizaron utilizando el software de estadística StatsDirect (versión 2.6.5, Altrincham, UK). Resultados: El espesor medio del miocardio NC y el miocardio normal fue 13.1 +/- 3.3 mm y 3.6 +/- 0.6 mm respectivamente. El número medio de segmentos con miocardio NC fue 8.2 +/- 1.2, siendo los más afectados el ápex y los segmentos laterales a nivel apical y medioventricular. El DFDVI, el VFDVI, la masa global, compactada y trabeculada del VI estuvieron incrementados en forma significativa en el grupo de pacientes con disfunción ventricular. La FEVI tuvo una correlación lineal negativa con masa de miocardio trabeculado del VI (MTVI)/m2 (R = 0.67, p = 0.001), el VFDVI/m2 (R = 0.77, p < 0.001) y el DFDVI/m2 (R = 0.7, p < 0.001). Asimismo, hubo una correlación lineal negativa entre la MTVI/m2 y el VFDVI/m2...

Miocardiopatía no compactada: una serie de 15 casos / Non compaction cardiomyopathy: a series of 15 cases

Background: Non compaction cardiomyopathy is a rare disorder caused by the arrest of myocardial compaction during embryogenesis, leading to a non compacted endocardial layer with marked hypertrabeculation and deep recesses. Aim: To report the clinical and echocardiographic characteristics of a series of 15 adult patients with non-compaction cardiomyopathy. Patients and Methods: We included a total of 15 patients aged 52 ± 17 years (40 percent males) diagnosed at our echocardiography laboratory between January 2001 and July 2010. Results: Theform of presentation was heart failure in 53 percent of subjects, syncope in 20 percento, ventricular arrhythmias in 13 percento and stroke in 7 percent>. Left ventricular end-diastolic diameter was 66 ±11 mm and estimated ejection fraction was 27 ± 10 percent>. Apical and/or mid-ventricular segments of the left ventricle were involved in all the cases. Pulmonary hypertension was present in 40 percento. The average follow-up was 19 months and no patient died during this period. Sixty seven percent ofthe patients had manifestations of heart failure, 27 percento presented sustained ventricular arrhythmias and 20 percent> had atrial fibrillation orflutter, whereas 13 percento had cerebral embolic events. An automated internal cardioverter defibrillator was implanted in 47 percento of patients. Conclusions: Non-compaction cardiomyopathy is associated with high cardiovascular morbidity. The diagnosis is made in advanced stages of the disease, with significant dilation and ventricular dysfunction.

Evaluación de la miocardiopatía no compactada con resonancia magnética cardíaca en pacientes con función sistólica del ventrículo izquierdo conservada y disminuida / Cardiac Magnetic Resonance Imaging for Evaluation of Non-Compaction Cardiomyopathy in Patients with or without Left Ventricular Systolic Dysfunction

Introducción La miocardiopatía no compactada (MNC) es un trastorno genético que se caracteriza por la presencia de una extensa capa de miocardio trabeculado con recesos intertrabeculares comunicados con la cavidad ventricular. Si bien su prevalencia es mayor en poblaciones sintomáticas con disfunción ventricular, las nuevas modalidades diagnósticas incrementaron su detección en pacientes asintomáticos con función sistólica conservada. No obstante, la patología permanece subdiagnosticada debido al bajo índice de sospecha sumado al uso de clasificaciones ecocardiográficas con criterios diagnósticos dispares. Se establecieron dos criterios diagnósticos de resonancia magnética cardíaca (RMC) que reconocen correctamente esta entidad. Objetivo Evaluar las características clínicas y morfológicas de los pacientes con MNC con disfunción sistólica y sin ella evaluados por resonancia magnética cardíaca (RMC). Material y métodos Se incluyeron en forma retrospectiva 20 pacientes con diagnóstico de MNC. Se determinaron: volumen de fin de diástole (VFDVI) y de sístole, diámetro de fin de diástole (DFDVI) y de sístole, fracción de eyección (FEVI), masa cardíaca y trabeculaciones del ventrículo izquierdo (VI). La distribución del miocardio NC se llevó a cabo con el modelo de 17 segmentos miocárdicos. Resultados El espesor medio del miocardio NC y el miocardio C fue de 13,1 ± 3,3 mm y de 3,6 ± 0,6 mm, respectivamente. El DFDVI, el VFDVI, la masa global, compactada y trabeculada del VI estuvieron incrementados en forma significativa en el grupo de pacientes con disfunción ventricular. Hubo una correlación positiva y una relación lineal entre el DFDVI y la MTVI (g/m2): r = 0,76; r² = 0,59; p < 0,001. Conclusiones Hallamos dos formas de presentación de la patología, una sutil con función sistólica conservada y otra asociada con disfunción ventricular que se comporta como la miocardiopatía dilatada.

Background Non-compaction cardiomyopathy (NCC) is a genetic disorder characterized by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. The prevalence of NCC is greater in symptomatic populations with left ventricular dysfunction; yet, it may also be detected in asymptomatic patients with normal left ventricular function using novel diagnostic tools. However, this condition is under-diagnosed due to a low index of clinical suspicion and to the use of echocardiography classifications based on different diagnostic criteria. The use of cardiac magnetic resonance imaging (CMRI) has established two diagnostic criteria that clearly recognize this disease. Objective To evaluate the clinical and morphological characteristics of patients with NCC with and without systolic dysfunction undergoing cardiac magnetic resonance imaging (CMRI). Material and Methods A total of 20 patients with NCC were retrospectively included. The following parameters were determined: left ventricular end-diastolic volume (LVEDV), left ventricular end-systolic volume (LVESV); left ventricular end-diastolic diameter (LVEDD); left ventricular end-systolic diameter (LVESD); cardiac mass and left ventricular trabeculations. The distribution of NC myocardium was evaluated according to the model of 17 myocardial segments. Results Mean myocardial thickness was 13.1±3.3 mm and 3.6±0.6 mm in NC versus normal myocardium, respectively. Patients with left ventricular dysfunction presented increased LVEDD, LVEDV, total cardiac mass, and LV non-compaction and trabeculations. We found a positive correlation and a linear relationship between LVEDD and TLVM (g/m2): r=0.76; r²=0.59; p<0.001. Conclusions We found that NCC can present either as a subtle condition with normal systolic function or as a dilated cardiomyopathy associated with ventricular dysfunction.