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.

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

Research progress on genetic pathogenesis of non-compaction of the ventricular myocardium in children / 中国小儿急救医学

Non-compaction of the ventricular myocardium(NVM), also known as cavernous cardiomyopathy, is dominated by left ventricular non-compaction(LVNC)in most patients.The incidence of NVM in childhood cardiomyopathy is second only to dilated cardiomyopathy and hypertrophic cardiomyopathy, and the pathological changes are prominent trabeculae and deep intertrabecular clefts.Most pediatric patients have serious complications, such as heart failure, serious arrhythmias, and thrombus.Therefore, it is particularly important to study the pathogenesis of LVNC in children.NVM may be caused by the cessation of myocardial compaction in early embryonic development, so the genetic pathogenesis of NVM is particularly important.This review aimed to elucidate the genetic pathogenesis of LVNC in children, and provide more ideas for the pathogenesis and genetic therapy of LVNC in the future.

Research progress on genetic pathogenesis of non-compaction of the ventricular myocardium in children / 中国小儿急救医学

Non-compaction of the ventricular myocardium(NVM), also known as cavernous cardiomyopathy, is dominated by left ventricular non-compaction(LVNC)in most patients.The incidence of NVM in childhood cardiomyopathy is second only to dilated cardiomyopathy and hypertrophic cardiomyopathy, and the pathological changes are prominent trabeculae and deep intertrabecular clefts.Most pediatric patients have serious complications, such as heart failure, serious arrhythmias, and thrombus.Therefore, it is particularly important to study the pathogenesis of LVNC in children.NVM may be caused by the cessation of myocardial compaction in early embryonic development, so the genetic pathogenesis of NVM is particularly important.This review aimed to elucidate the genetic pathogenesis of LVNC in children, and provide more ideas for the pathogenesis and genetic therapy of LVNC in the future.

Clinical characteristics and pregnancy outcomes of pregnant women with left ventricular non-compaction / 中华妇产科杂志

Objective:To investigate the clinical characteristics and pregnancy outcomes in pregnant women with left ventricular non-compaction (LVNC).Methods:The clinical data of seven pregnant women with LVNC from January 2011 to December 2021 in Beijing Anzhen Hospital,Capital Medical University were retrospectively analyzed, including age, gestational age of symptom first occured, LVNC history, clinical symptoms, New York Heart Association (NYHA) cardiac function class, echocardiography, blood brain natriuretic peptide (BNP), treatment and the maternal and fetal outcomes.Results:Five cases were diagnosed before pregnancy, of which there were three women with medication; one case diagnosed in the month of pregnancy; one case diagnosed at 36 weeks of gestation. NYHA cardiac function was grade Ⅰ in four cases and grade Ⅱ in three cases before or during the first trimester of pregnancy. Of the five pregnant women who underwent echocardiography, there were one case of left ventricular insufficiency, three cases of mild left ventricular dysfunction and one case of normal left ventricular function before or during the first trimester of pregnancy. Of the five pregnant women to the second and third trimester of pregnancy, there were one case of grade Ⅳ, one case of grade Ⅲ, two cases of grade Ⅱ-Ⅲ and one case of grade Ⅱ in NYHA class ; three cases of left ventricular insufficiency, two cases of normal left ventricular function by echocardiography four cases had cardiac symptoms at 15-24 weeks of gestation and were treated with medication. In four cases, blood BNP increased to 214-1 197 ng/L during pregnancy, and were 89-106 ng/L after termination of pregnancy. There were 4 cases with arrhythmia. Indications for termination of pregnancy: LVNC complicated with heart failure in two cases, LVNC complicated with decreased cardiac function and threatened preterm birth in one case, complicated with pregnancy at full term in two cases, LVNC complicated with severe pulmonary hypertension in one case, and left ventricular dysfunction in one case. Cesarean section in four cases in the third-trimester, in one case in the second-trimester, and forceps curettage in two cases were taken. Two full-term infants,two preterm infants were born without LVNC.Conclusions:Women diagnosed with LVNC and low left ventricular ejection fraction before pregnancy are more prone to decreased cardiac function during pregnancy. Carrying out pregnancy risk assessment and strengthening the multi-disciplinary team management of high risk factors in pregnancy are conducive to achieve good pregnancy outcomes.

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.

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.

Anaesthetic management of a patient with non compaction cardiomyopathy for implantable cardioverter defibrillator lead replacement

Non compaction cardiomyopathy (NCM) is a rare, primary genetically derived cardiomyopathy with a variable clinical presentation ranging from absence of symptoms to congestive heart failure, systemic thromboembolism, arrythmias and sudden cardiac death. Being an uncommon condition, the perioperative concerns in a patient with NCM have not been studied much. With increasing awareness and improved diagnostic tools including high resolution echocardiography and cardiac MRI, there has been an increase in the reporting of cases which stresses on the need for a complete understanding of this form of cardiomyopathy and its perioperative anaesthetic management. Authors report the case of a 24 years old female, with NCM who underwent prophylactic Implantable cardioverter defibrillator (ICD) insertion 5 years ago and was now posted for ICD removal and replacement in view of inappropriate ICD functioning.

Non-compaction of ventricular myocardium in children / 中华实用儿科临床杂志

Non-compaction of ventricular myocardium (NVM), a rare congenital and inherited cardiomyopathy, is characterized by prominent trabeculations and deep intertrabecular recesses in communication with the ventricular cavity.NVM has diverse clinical presentations without specificity, of which the major characteristics are cardiac insufficiency, arrhythmias and thrombosis.Echocardiography and cardiac magnetic resonance imaging are necessary technologies to diagnose NVM.Symptomatic therapy is the only choice for most patients.Furthermore, if medical treatment fails, the heart transplantation could be performed.As a whole, NVM has a high mortality and entirely different prognosis, however, the prognosis of asymptomatic patients is relatively good.

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.

Non-compaction of ventricular myocardium in children / 中华实用儿科临床杂志

Non-compaction of ventricular myocardium (NVM),a rare congenital and inherited cardiomyopathy,is characterized by prominent trabeculations and deep intertrabecular recesses in communication with the ventricular cavity.NVM has diverse clinical presentations without specificity,of which the major characteristics are cardiac insufficiency,arrhythmias and thrombosis.Echocardiography and cardiac magnetic resonance imaging are necessary technologies to diagnose NVM.Symptomatic therapy is the only choice for most patients.Furthermore,if medical treatment fails,the heart transplantation could be performed.As a whole,NVM has a high mortality and entirely different prognosis,however,the prognosis of asymptomatic patients is relatively good.

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

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.

Prevalence, Characteristics, and Clinical Significance of Concomitant Cardiomyopathies in Subjects with Bicuspid Aortic Valves

PURPOSE: The present study aimed to investigate the prevalence, characteristics, and clinical significance of concomitant specific cardiomyopathies in subjects with bicuspid aortic valves (BAVs). MATERIALS AND METHODS: A total of 1186 adults with BAV (850 males, mean age 56±14 years) at a single tertiary center were comprehensively reviewed. Left ventricular non-compaction, hypertrophic cardiomyopathy, and idiopathic dilated cardiomyopathy were confirmed when patients fulfilled current clinical and echocardiographic criteria. Clinical and echocardiographic characteristics, including comorbidities, heart failure presentation, BAV morphology, function, and aorta phenotypes, in BAV subjects with or without specific cardiomyopathies were compared. RESULTS: Overall, 67 subjects (5.6%) had concomitant cardiomyopathies: 40 (3.4%) patients with left ventricular non-compaction, 17 (1.4%) with hypertrophic cardiomyopathy, and 10 (0.8%) with dilated cardiomyopathy. BAV subjects with hypertrophic cardiomyopathy had higher prevalences of diabetes mellitus and heart failure with preserved ejection fraction, and tended to have type 0 phenotype, while BAV subjects with dilated cardiomyopathy showed higher prevalences of chronic kidney disease and heart failure with reduced ejection fraction. BAV subjects with left ventricular non-compaction were significantly younger and predominantly male, and had greater BAV dysfunction and a higher prevalence of normal aorta shape. In multiple regression analysis, cardiomyopathy was independently associated with heart failure (odds ratio 2.795, 95% confidential interval 1.603–4.873, p<0.001) after controlling for confounding factors. CONCLUSION: Concomitant cardiomyopathies were observed in 5.6% of subjects with BAV. A few different clinical and echocardiographic characteristics were found. The presence of cardiomyopathy was independently associated with heart failure.

Prenatal chocardiography in diagnosis of fetal noncompaction of ventricular myocardium / 中国介入影像与治疗学

Objective: To investigate the value of prenatal echocardiography in diagnosis of fetal noncompaction of ventricular myocardium (FNVM). Methods: Echocardiographic data of 12 fetuses with FNVM were analyzed and compared with the pathological results. Results: All 12 fetuses were diagnosed with FVNM. Biventricular involvement was detected in 5 fetuses, left ventricle involvement was observed in 5 fetuses, while right ventricle involvement was found in 2 fetuses. FNVM mostly involved the left ventricular apical (n=10). Associated abnormalities of heart structures were noticed in 7 fetuses, while 5 fetuses were found with serous membrane fluid and 3 fetuses with arrhythmia. Eight fetuses were tested for single gene mutation and copy number variations, among them 6 were detected with pathogenic gene mutations, 1 with the likely pathogenic gene mutation KCNH2 and 1 with chromosomal microdeletion. Conclusion: FNVM can involve both the left and the right ventricles, which tends to combine with right sided lesions, arrhythmia and serous membrane fluid. Prenatal echocardiography may play an important role in the diagnosis, prognosis and parental counseling of FNVM.

Evaluation of left ventricular systolic function in children with left ventricular noncompaction using real-time three-dimensional echocardiography / 中国介入影像与治疗学

Objective: To observe the value of real-time three-dimensional echocardiography (RT-3DE) for evaluating left ventricular global and regional systolic function in children with left ventricular noncompaction (LVNC). Methods: According to left ventricular ejection fraction (LVEF) detected with conventional echocardiography, 34 children with LVNC were divided into LVEF normal group (group A, LVEF≥50%, n=25) and LVEF reduced group (group B, LVEF0.05), while rEF of apical septal, inferior and lateral segments, as well as med inferoseptal, inferior and inferolateral segments were significantly different between group A and C (all P0.05), while rESV of basal inferolateral and anterolateral segments, med anterior, anteroseptal, inferior, inferolateral and anterolateral segments, apical anterior, septal and lateral segments, as well as rEF in all 17 segments of myocardium in left ventricular were significantly different between group B and C (all P<0.05). Conclusion: RT-3DE can be used to evaluate the regional and global systolic function, which is helpful to early diagnosis, treatment and prognosis of LVNC children.