Mirror syndrome with noncompaction cardiomyopathy in the mother and fetus. Case report / Síndrome en espejo con miocardiopatía no compactada en la madre y el feto. Reporte de caso

Objective: To report the case of a pregnant woman with mirror syndrome associated with non-compaction cardiomyopathy in the mother and the fetus, in which antenatal medical treatment provided to the mother resulted in a favorable perinatal maternal outcome. Case presentation: A 16-year old primigravida with 33 weeks of gestation referred from a Level I institution to a private Level IV center in Medellín, Colombia, because of a finding of fetal hydrops on obstetric ultrasound. During hospitalization, the patient showed clinical and ultrasonographic signs of heart failure (dyspnea, edema and hypoxemia), with the diagnosis of hydrops fetalis (mirror syndrome) also confirmed. Diuretic treatment with furosemide was initiated in the mother, with subsequent improvement of the maternal condition as well as of the fetal edema. During the subacute postpartum period in the hospital, the presence of non-compaction cardiomyopathy was confirmed on cardiac nuclear magnetic resonance imaging in both the mother and the newborn. After discharge in adequated condition, they were included in the cardiovascular follow-up program for heart failure and congenital heart disease, respectively. Conclusion: A case of mirror syndrome associated with maternal and fetal non-compaction cardiomyopathy is presented. There is a limited number of reports on mirror syndrome due to cardiac anomalies (maternal and fetal), with weak treatment descriptions, pointing to the need for research in this area. It would be important to consider the diagnosis of non-compaction cardiomyopathy in fetuses with hydrops unrelated to isoimmunization or cardiac dysfunction, and approach these cases from a multi-disciplinary perspective.

Objetivo: reportar el caso de una gestante con síndrome en espejo asociada a miocardiopatía no compactada, tanto en la madre como el feto, en los que el tratamiento médico antenatal en la madre llevó a un resultado materno perinatal favorable. Presentación del caso: se describe el caso de una primigestante de 16 años, con 33 semanas de embarazo, remitida desde una institución de primer nivel de atención a una institución privada de cuarto nivel en la ciudad de Medellín, Colombia, por presentar feto con hidropesía en ultrasonido obstétrico de control. Durante la hospitalización, la paciente presentó signos clínicos y ecocardiográficos de falla cardiaca (disnea, edema e hipoxemia), a la vez que se confirmó el diagnóstico de Hydrops fetalis (síndrome en espejo). Se instauró tratamiento diurético con furosemida en la madre, logrando mejoría del cuadro materno y del edema fetal. En el puerperio mediato hospitalario se confirmaron la presencia de miocardiopatía no compactada en la resonancia magnética nuclear cardiaca, tanto de la madre como del recién nacido. Ambos egresaron en adecuadas condiciones y fueron vinculados al programa de seguimiento cardiovascular: falla cardiaca y de cardiopatía congénitas, respectivamente. Conclusión: se presenta un caso de síndrome en espejo asociado a miocardiopatía no compactada materna y fetal. Es limitado el número de reportes de síndrome en espejo por anomalías cardiacas (maternas y fetales) y pobre la descripción de los tratamientos realizados que surgen como temas a investigar. Sería importante considerar el diagnóstico de MNC en fetos con hidropesía no asociados a isoinmunización y con disfunción cardiaca, así como su atención por equipos multidisciplinarios.

Síndrome en espejo con miocardiopatía no compactada en la madre y el feto. Reporte de caso / Mirror syndrome with noncompaction cardiomyopathy in the mother and fetus. Case report

Objetivo: reportar el caso de una gestante con síndrome en espejo asociada a miocardiopatía no compactada (MNC), tanto en la madre como el feto, en los que el tratamiento médico antenatal en la madre llevó a un resultado materno perinatal favorable. Presentación del caso: se describe el caso de una primigestante de 16 años, con 33 semanas de embarazo, remitida desde una institución de primer nivel de atención a una institución privada de cuarto nivel en la ciudad de Medellín, Colombia, por presentar feto con hidropesía en ultrasonido obstétrico de control. Durante la hospitalización, la paciente presentó signos clínicos y ecocardiográficos de falla cardiaca (disnea, edema e hipoxemia), a la vez que se confirmó el diagnóstico de Hydrops fetalis (síndrome en espejo). Se instauró tratamiento diurético con furosemida en la madre, logrando mejoría del cuadro materno y del edema fetal. En el puerperio mediato hospitalario se confirmaron la presencia de miocardiopatía no compactada en la resonancia magnética nuclear cardiaca, tanto de la madre como del recién nacido. Ambos egresaron en adecuadas condiciones y fueron vinculados al programa de seguimiento cardiovascular: falla cardiaca y de cardiopatía congénitas, respectivamente. Conclusión: se presenta un caso de síndrome en espejo asociado a miocardiopatía no compactada materna y fetal. Es limitado el número de reportes de síndrome en espejo por anomalías cardiacas (maternas y fetales) y pobre la descripción de los tratamientos realizados que surgen como temas a investigar. Sería importante considerar el diagnóstico de MNC en fetos con hidropesía no asociados a isoinmunización y con disfunción cardiaca, así como su atención por equipos multidisciplinarios.

ABSTRACT Objective: To report the case of a pregnant woman with mirror syndrome associated with noncompaction cardiomyopathy in the mother and the fetus, in which antenatal medical treatment provided to the mother resulted in a favorable perinatal maternal outcome. Case presentation: A 16-year old primigravida with 33 weeks of gestation referred from a Level I institution to a private Level IV center in Medellín, Colombia, because of a finding of fetal hydrops on obstetric ultrasound. During hospitalization, the patient showed clinical and ultrasonographic signs of heart failure (dyspnea, edema and hypoxemia), with the diagnosis of hydrops fetalis (mirror syndrome) also confirmed. Diuretic treatment with furosemide was initiated in the mother, with subsequent improvement of the maternal condition as well as of the fetal edema. During the subacute postpartum period in the hospital, the presence of non-compaction cardiomyopathy was confirmed on cardiac nuclear magnetic resonance imaging in both the mother and the newborn. After discharge in adequated condition, they were included in the cardiovascular follow-up program for heart failure and congenital heart disease, respectively. Conclusion: A case of mirror syndrome associated with maternal and fetal non-compaction cardiomyopathy is presented. There is a limited number of reports on mirror syndrome due to cardiac anomalies (maternal and fetal), with weak treatment descriptions, pointing to the need for research in this area. It would be important to consider the diagnosis of non-compaction cardiomyopathy in fetuses with hydrops unrelated to isoimmunization or cardiac dysfunction and approach these cases from a multidisciplinary perspective.

Diagnóstico prenatal de no compactación del miocardio ventricular: presentación de un caso / Prenatal diagnosis of noncompaction of the ventricular myocardium: A case report / Prenatal diagnosis of noncompaction of the ventricular myocardium: A case report

RESUMEN El 'miocardio esponjoso' o cardiopatía no compactada es una rara miocardiopatía congénita de etiología desconocida, que resulta de un fallo en la embriogénesis en el proceso evolutivo de la trabeculación miocárdica normal. Los hallazgos ecocardiográficos característicos de esta enfermedad consisten en múltiples trabeculaciones miocárdicas y profundos recesos intertrabeculares que se comunican con la cavidad ventricular izquierda, derecha o ambas. Se presenta un caso de esta miocardiopatía que afecta el ventrículo derecho, en feto de 31 semanas de gestación, cuya madre era portadora asintomática de dicha patología. Se presenta las imágenes ecográficas prenatales, incluyendo la evaluación mediante la técnica de deformación miocárdica (strain), haciendo énfasis en la importancia de la historia clínica del paciente, las posibles etiologías y el diagnóstico diferencial con otras entidades.

ABSTRACT "Spongy cardiomyopathy" or noncompaction heart disease is a rare congenital cardiomyopathy of unknown etiology which results from a failure in embryogenesis in the evolutionary process of normal myocardial trabeculation. The characteristic echocardiographic findings of this disease consist of multiple myocardial trabeculations and deep intertrabecular recesses that communicate with the left or right ventricular cavity or both. We present a case of this cardiomyopathy that affects the right ventricle, in a fetus of 31 weeks gestation, whose mother was an asymptomatic carrier of said pathology. Prenatal ultrasound images are presented, including evaluation using the strain (myocardial deformation) technique, emphasizing the importance of the patient's medical history, possible etiologies and differential diagnosis with other entities.

Isolated Non-Compacted Myocardium: Should We Consider the Presence of Extrasystoles as the Initial Manifestation?

Ventricular non-compaction occurs due to failure in myocardial morphogenesis during the fetal period. Patients can have heart failure, as well as systemic complications due to thromboembolism and cardiac arrhythmias. Early diagnosis is essential. We present the case of an asymptomatic 49-year-old woman who initially manifested ventricular extrasystoles and heart failure with reduced ejection fraction and a myocardial noncompaction diagnosis

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.

Miocardiopatia não compactada em gestante com linfoma não Hodgkin. Relato de caso / Non-compaction cardiomyopathy in pregnant women with non-Hodgkin lymphoma: a case report

A miocardiopatia não compactada é uma doença congênita rara, que pode ocorrer isoladamente ou associada a outros defeitos, por falha no processo de compactação das fibras miocárdicas, resultando na persistência de trabeculações e recessos profundos. A associação entre a miocardiopatia não compactada e gestação é incomum na literatura, assim como a relação com macroglobulinemia de Waldenstrom, um tipo de linfoma não Hodgkin. Descrevemos aqui a rara associação destas três patologias. Trata-se de paciente do sexo feminino, sem antecedentes hematológicos, neoplasias ou cardiopatias, que procurou o serviço com queixa de astenia progressiva, dores no corpo, perda ponderal importante e anemia. Na investigação diagnóstica, a imunoeletroforese de proteína constatou pico monoclonal em IgM Kappa, com inventário medular por imunofenotipagem e biópsia de medula óssea com Kappa+, CD19+, CD20+, CD38 e CD79b, confirmando diagnóstico de neoplasia de linfócitos B maduros. Na terapêutica, optou-se pelo esquema de primeira linha com dexametasona, rituximabe e ciclofosfamida (DRC) − este último considerado agente alquilante cardiotóxico. Em triagem pré-quimioterápica, o eletrocardiograma mostrou alteração da repolarização ventricular anterosseptal. O ecocardiograma transtorácico evidenciou trabeculações excessivas no ápice do ventrículo esquerdo, sugerindo não compactação do miocárdio. A ressonância magnética confirmou o diagnóstico. Foi iniciada terapia com metoprolol e ácido acetilsalisílico. Todavia, após o último ciclo de terapia quimioterápica, paciente descobriu gravidez (G1P1A0). O período gestacional e o puerpério evoluíram sem manifestações clínicas de insuficiência cardíaca, em classe funcional I (New York Heart Association), mesmo com redução da fração de ejeção do ventrículo esquerdo ao ecocardiograma transtorácico. (AU)

Non-compaction cardiomyopathy is a rare congenital disease that can occur in isolation or associated with other defects, due to failure in compaction of myocardial fiber, resulting in persistence of myocardial trabeculations and deep recesses. The association between non-compaction cardiomyopathy and gestation, as well as the relationship with Waldenstrom's macrobulinemia, a type of Non-Hodgkin's Lymphoma (NHL), are not common in the literature. This study describes the rare association of these three pathologies. This is the case of a female patient with no history of hematological, neoplastic, or heart diseases, who sought the service with complaints of progressive weakness, body aches, important weight loss, and anemia. During the diagnostic investigation, protein immunoelectrophoresis showed a monoclonal peak in IgM Kappa monoclonal gammopathy, with a medullary inventory by immunophenotyping and bone marrow biopsy with Kappa+, CD19+, CD20+, CD38 and CD79b, confirming the diagnosis of mature B-cell lymphocyte neoplasm. The first line therapy chosen was dexamethasone, rituximab, and cyclophosphamide (CKD), with the latter being considered a cardiotoxic alkylating agent. At pre-chemotherapy screening, the electrocardiogram showed an alteration of the anteroseptal ventricular repolarization. Transthoracic echocardiography (ETT) showed excessive trabeculations at the apex of the left ventricle (LV), suggesting no compaction of the myocardium. The magnetic resonance imaging confirmed the diagnosis.Therapy with metoprolol and acetylsalicylic acid was started. However, after the last cycle of chemotherapy, the patient found she was pregnant (G1P1A0). The gestational and puerperium period progressed with no clinical manifestations of heart failure, in functional class I (New York Heart Association), albeit the reduction of the ejection fraction of the left ventricular shown in the transthoracic echocardiography. (AU)

Left ventricular noncompaction and pre-excitation: an unusual finding in adults

Left ventricular noncompaction (LVNC) is a rare form of cardiomyopathy characterized by prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. The disease is potentially associated with sudden cardiac death due to LV dysfunction and ventricular arrhythmias. The presence of accessory pathway and Wolff-Parkinson-White syndrome is particularly rare in adults. Here we describe the rare association of LVNC and ventricular pre-excitation in an 18-year-old female with neonatal hypoxic brain injury (AU)

Miocárdio não compactado de ventrículo esquerdo: relato de caso com estudo de necropsia / Noncompaction of ventricular myocardium: case report with autopsy

O miocárdio não compactado de ventrículo esquerdo é cardiomiopatia genética em decorrência de uma anormalidade da morfogênese endomiocárdica. Quando presente, geralmente está associado a outras anomalias cardíacas congênitas, sendo raro seu achado isolado sem outras alterações estruturais cardíacas associadas. Desde seu primeiro relato em 1990, a não compactação do miocárdio vem sendo amplamente estudada a fim de se estabelecerem caráter genético, história natural, métodos de diagnóstico, repercussões hemodinâmicas e prognóstico. O objetivo deste estudo foi relatar um caso de miocárdio não compactado isolado de ventrículo esquerdo com estudo de necrópsia.

Noncompaction of the ventricular myocardium is a genetic cardiomyopathy due to an alteration in endomyocardial morphogenesis. When present, it is commonly associated with other congenital cardiac diseases, whereas it is rare as an isolated finding without other associated cardiac structural alterations. Since its first report in 1990, the noncompaction of the ventricular myocardium has been widely studied in order to establish its genetic character, natural history, diagnostic methods, hemodynamic repercussions and prognosis. This study aims to report the case of an isolated noncompaction of the left ventricular myocardium with autopsy.