Informe de caso de miocardiopatía no compactada en una mujer de 34 años / Case report of left ventricular noncompaction cardiomyopathy in a 34-year-old woman

Introducción: la miocardiopatía no compactada (MCNC) es una miocardiopatía no clasificada por la Organización Mundial de la Salud. Se describe como una enfermedad congénita muy rara, donde se observan trabeculaciones endomiocárdicas que aumentan en número y prominencia. Esta miocardiopatía conlleva un alto riesgo de arritmias malignas, fenómeno tromboembólico y disfunción ventricular izquierda. Objetivo: reportar el caso de una mujer de 34 años, diagnosticada previamente con obesidad mórbida, que acudió a consulta externa para una evaluación cardiovascular prequirúrgica. El electrocardiograma mostró el ventrículo izquierdo (VI) ligeramente dilatado y llamativa trabeculación del mismo. Resultados: se confirma el diagnóstico de MCNC a través de una imagen de resonancia magnética. Se autoriza su cirugía y se recomiendan cambios en su estilo de vida y cambio de medicación para riesgos de fallo cardíaco. En el último ecocardiograma, los diámetros del VI muestran mejoría con respecto al primero. Conclusiones: la presencia de trabeculaciones en el VI debe considerarse un dato clínico de sospecha de MCNC. Se deben realizar más investigaciones sobre las causas de esta miocardiopatía no clasificada para desarrollar mejores formas terapéuticas, sin embargo, ha sido probada la eficacia de los bloqueadores de los receptores de la angiotensina II en el manejo farmacoterapéutico de esta condición

Introduction: Left ventricular non-compaction cardiomyopathy (LVNC) is a cardiomyopathy not classified by the World Health Organization. It is described as a very rare congenital disease where endomyocardial trabeculations that increase in number and prominence are observed. This cardiomyopathy carries a high risk of malignant arrhythmias, thromboembolic events and left ventricular dysfunction. Objective: To report the case of a 34-year-old woman, previously diagnosed with morbid obesity, who came to the outpatient clinic for a preoperative cardiovascular evaluation. The electrocardiogram showed a slightly dilated left ventricle (LV) and striking trabeculation. Results: The diagnosis of LVNC was confirmed by magnetic resonance imaging. Surgery was authorized and lifestyle changes and change of medication for heart failure risks were recommended. On the last echocardiogram, LV diameters show improvement from the first. Conclusions: The presence of trabeculations in the LV should be considered as clinical data of suspected LVNC. Further investigations on the causes of this unclassified cardiomyopathy should be performed to develop better therapeutic ways, however, the efficacy of angiotensin II receptor blockers in the pharmacotherapeutic management of this condition has been proven

Miocardiopatia não compactada em crianças e adolescentes: do desafio do diagnóstico ecocardiográfico ao acompanhamento clínico / Non-compacted cardiomyopathy in children and adolescents: from the challenge of echocardiographic diagnosis to clinical follow-up

Fundamentos: Miocardiopatia não compactada (MCNC) caracteriza-se por hipertrabeculações e recessos profundos no ventrículo esquerdo, com apresentação clínica heterogênea, desde pacientes assintomáticos a insuficiência cardíaca (IC), eventos tromboembólicos arritmias com risco de morte súbita. Por ser rara e não apresentar critérios diagnósticos bem definidos, sua história natural na pediatria é pouco conhecida. Este estudo descreve a apresentação e evolução clínica de pacientes portadores de MCNC. Metodologia: Estudo observacional, longitudinal, prospectivo, de pacientes pediátricos atendidos em um centro de referência em cardiologia pediátrica provenientes da região metropolitana II do Estado do Rio de Janeiro, com fenótipo de MCNC ao ecocardiograma (ECO) no período de 2 anos de acompanhamento, provenientes do Registro ChARisMa. Resultados: Analisados seis pacientes com MCNC, de 4 a 14 anos de idade, média de idade de 7,5 anos (DP: 3,93), 3 do sexo masculino (50%). Apresentando-se com IC (n=2), sopro cardíaco (n=1), arritmia cardíaca (n=1), assintomático (n=1) ou em investigação de síndrome genética (n=1). Fenótipos ao ECO: MCNC/Miocardiopatia dilatada (n=1) e MCNC/Miocardiopatia restritiva (n=1), fenótipo isolado de MCNC (n=4). A ressonância magnética cardíaca foi realizada, confirmando o diagnóstico (n=4). Os desfechos observados foram tromboembolismo, indicação de transplante cardíaco e taquicardia ventricular sustentada. Conclusões: Esta série de casos proporciona dados relevantes da MCNC pediátrica, mostrando a heterogeneidade da apresentação clínica, bem como a ocorrência de complicações potencialmente fatais. São necessários mais estudos prospectivos para que seu diagnóstico seja corretamente realizado e sua evolução clínica, resposta terapêutica e prognóstico sejam mais bem conhecidos. (AU)

Background: Non-compacted cardiomyopathy (NCCM) is characterized by hypertrabeculations and deep recesses in the left ventricle, with a heterogeneous clinical presentation, ranging from asymptomatic patients to those with heart failure (HF), thromboembolic events and arrhythmias with risk of sudden death. As it is rare and does not have well-defined diagnostic criteria, its natural history in pediatrics is poorly understood. This study describes the clinical presentation and clinical course of patients with NCCM. Methodology: Observational, longitudinal, prospective study of pediatric patients seen at a pediatric cardiology referral center from metropolitan region II in the state of Rio de Janeiro, with NCCM phenotype on echocardiogram (ECHO) during a 2-year follow-up, from the ChARisMa registry. Results: 6 patients aged 4 to 14, with NCCM, were analyzed. Mean age 7.5 years (SD: 3.93), 3 males (50%). The patients presented HF (n=2), cardiac murmur (n=1), cardiac arrhythmia (n=1), were asymptomatic (n=1) or were under investigation for a genetic syndrome (n=1). Phenotypes on ECHO: NCCM/dilated cardiomyopathy (n=1) and NCCM/restrictive cardiomyopathy (n=1), isolated phenotype of NCCM (n=4). Cardiac magnetic resonance imaging was performed and confirmed the diagnosis (n=4). The outcomes observed were thromboembolism, indication for heart transplantation, and sustained ventricular tachycardia. Conclusions:This case series provides relevant data for pediatric NCCM as it shows its heterogeneous clinical presentation and potentially fatal complications. More prospective studies are needed for an accurate diagnosis and to allow its clinical course, therapeutic response and prognosis to be better known. (AU)

Left ventricular noncompaction in a Para athlete / Miocárdio não compactado em paratleta

ABSTRACT The left ventricular noncompaction is a congenital cardiomyopathy characterized by the presence of abnormal trabeculations in the left ventricle. The present study describes the case of a 14-year-old female Para athlete, who plays goalball. She was asymptomatic, with history of congenital nystagmus and mild visual impairment, who presented nonspecific electrocardiographic abnormalities during pre-competition screening. Cardiac magnetic resonance imaging showed left ventricular non-compaction (non-compacted to compacted layer ratio equal to 2.5) and mild biventricular systolic dysfunction. Initially, the patient was excluded from sports participation and clinical follow-up was performed every three months. Patient remained asymptomatic during the one-year follow-up, with no history of unexplained syncope, marked impairment of systolic function or significant ventricular arrhythmias at the exercise stress test. Finally, she was released for competitive goalball participation and clinical follow-up was continued every 6 months. There is no consensus regarding the eligibility criteria for sports participation in cases of left ventricular non-compaction. Thus, it is prudent to individualize the decision regarding practice of sports, as well as to consider participation in competitive sports for asymptomatic individuals and with no disease repercussions.

RESUMO O miocárdio não compactado é uma cardiomiopatia congênita caracterizada pela presença de trabeculações anormais no ventrículo esquerdo. O presente estudo descreve o caso de uma paratleta de goalball, 14 anos, sexo feminino, assintomática, com história pessoal de nistagmo congênito e leve deficiência visual, que apresentou alterações eletrocardiográficas inespecíficas durante avaliação pré-participação. A ressonância magnética cardíaca evidenciou presença de não compactação miocárdica (relação entre camada não compactada/camada compactada igual a 2,5) e disfunção sistólica biventricular leve. Inicialmente, a paciente foi afastada da prática de esportes, e o seguimento clínico foi realizado a cada 3 meses. A paciente permaneceu assintomática durante o período de 1 ano de seguimento, sem história de síncope inexplicada, comprometimento significativo da função sistólica ou taquiarritmias ventriculares importantes ao teste de esforço. Por fim, ela foi liberada para prática competitiva de goalball, e o seguimento clínico foi mantido a cada 6 meses. Não há consenso quanto aos critérios de elegibilidade para a prática esportiva nos casos de miocárdio não-compactado. Assim, é prudente individualizar a decisão quanto a prática esportiva, bem como considerar a participação em esportes competitivos para indivíduos assintomáticos e sem repercussões da doença.

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.

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.

Miocardiopatía no-compacta biventricular / Biventricular non-compact cardiomyopathy

ResumenLa miocardiopatía ventricular no compacta (NCVI) es una afección rara con alta morbilidad y mortalidad debido a arritmias malignas, embolia trombótica sistémica e insuficiencia cardíaca. Se cree que la NCVI es causada por una interrupción en el proceso normal de compactación miocárdica. La compactación normal del miocardio embrionario procede del epicar dio al endocardio y de la base al ápice. En la embriogénesis temprana, el corazón se compone de malla suelta de fibras musculares que normalmente se condensan gradualmente, este proceso es más pronunciado en el lado izquierdo que en el lado derecho. Una compactación insuficiente del miocardio dará como resultado múltiples trabeculaciones ventricu lares prominentes y recesos inter trabeculares, afectando predominantemente el endocardio ventricular y el ápice del VI (ventrículo izquierdo). La miocardiopatía no compacta del ventricular izquierdo se puede producir de manera aislada o en asociación con defectos congénitos del corazón, síndromes genéticos y trastornos neuromusculares, entre otros.Presentamos un caso de un paciente masculino de 42 años de edad, con disnea y hallazgos electrocardiográficos de bloqueo de rama izquierda del Haz de His. Fue referido a cardiología para su valoración. Se le realizó un ecocardiogra ma que reveló un aumento de trabeculaciones y recesos profundos intertrabeculares en la pared del endocardio de ambos ventrículos.

AbstractLeft ventricular non-compaction cardiomyopathy (LVNC) is a rare condition associated with high morbidity and mortality due to malignant arrhythmias, systemic thrombotic embolism and heart failure. LVNC is thought to be caused by an arrest in the normal myocardial compaction process during early intrauterine life. Normal compaction of the embryonic myocardium proceeds from the epicardium to the endocardium and from the base of the heart to the apex. During early embryogenesis, the heart consists of loose mesh of muscle fibers that will gradually become compressed, this process is more pronounced in the left ventricle. An insufficient compaction of the myocardium will result in multiple prominent ventricular trabeculations and inter trabecular recesses that will predominantly affect the ventricular endocardium and the apex of the LV. Non-compaction of the left ventricular myocardium can occur in isolation, or in association with other conditions such as congenital heart defects (CHDs), genetic syndromes, and/or neuromuscular disorders, among others.We report the case of a 42 year-old male patient with dyspnea and ECG findings of left bundle branch block, who was referred to the Cardiology Department for evaluation. The echocardiogram performed revealed increased trabeculations and deep intertrabecular recesses in the endocardial wall of both ventricles.

Ressonância magnética cardíaca na cardiomiopatia dilatada: atualidades / Cardiac magnetic resonance in dilated cardiomyopathy: an update

JUSTIFICATIVA E OBJETIVOS: A cardiomiopatia dilatada(CMD) é a mais comum das cardiomiopatias, compreendendo mais de 90% de todos os casos. O seu diagnóstico é feito, sobretudo,com a utilização da ecocardiografia, a qual apresenta algumas limitações quanto à identificação da etiologia. A ressonância magnética cardíaca (RMC) tem se destacado como exame coadjuvante, permitindo melhor caracterização morfofuncional e tecidual do músculo cardíaco. O objetivo deste estudo foi descrevero papel da RMC no diagnóstico e avaliação das diversas causas de CMD.CONTEÚDO: A RMC apresentou bons resultados na aplicaçã oclínica em diversas causas de CMD, não possuindo capacidade de diferenciar todos os seus tipos, porém, contribuindo para a presunção diagnóstica.CONCLUSÃO: Com o avanço tecnológico da RMC, múltiplas indicações clínicas têm surgido em algumas ocasiões, com um aspecto complementar a determinados exames, em outras, como solução de dilemas diagnósticos. Tudo isso com acurácia superior aos demais métodos de imagem, poucas contraindicações e mínimos riscos de efeitos adversos.(AU)

BACKGROUND AND OBJECTIVES: Dilated cardiomyopathy (DCM) is the most common cause of cardiomyopathies,including more than 90% of all cases. Its diagnostic is done using, especially, echocardiography; which presents some limitations regarding the etiology's identification. Cardiac magnetic resonance (CMR) has been very useful as a more precise study, allowing better characterization of myocardium tissue and morphology. The objective of this article was to describe the role of the CMR in the diagnosis and evaluation of the diverse causes of DCM.CONTENTS : The CMR presented good results in the clinical applicationin diverse causes of DCM, not having capacity to differentiate all their types; however, better contributing to the diagnostic and patients follow up.CONCLUSION: With the technological development of CMR, several clinical indications have been created, in a few occasions with a complementing aspect to certain exams, in others with solutions of diagnostic dilemmas. All with higher accuracy in comparison to others image modalities, few contraindications and minimum adverse risks effects.(AU)