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.

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.

Não Compactação do Ventrículo Esquerdo no Adulto: Experiência de umaClínica de Insuficiência Cardíaca / Left Ventricular Noncompaction in Adulthood: Heart Failure Clinic Experience

Fundamentos: A não compactação do ventrículo esquerdo (NCVE) é um tipo distinto de cardiomiopatia, queapresenta várias características específicas. O curso natural desta entidade não é totalmente conhecido.Objetivos: Definir as características clínicas, complicações e sobrevida de pacientes com NCVE, acompanhadosem clínica de insuficiência cardíaca (IC).Métodos: Estudo retrospectivo que incluiu pacientes com NCVE, tratados em clínica de IC do Hospital São João, na cidade do Porto, Portugal, de janeiro de 2006 a fevereiro de 2014. Os dados demográficos, sintomas de IC e fração de ejeção no início do tratamento, o curso da NCVE (alterações da classe funcional), efeitos colaterais esobrevivência foram registrados a partir dos prontuários. Resultados: Foram incluídos 10 pacientes, 6 do sexo masculino, com mediana de 63 anos de idade. Nove apresentavam sintomas de IC e começaram medicação modificadora de prognóstico. Todos tinham fração deejeção do ventrículo esquerdo <45%. Um paciente não iniciou hipocoagulação oral; 7 apresentaram algum grau de recuperação de sintomas de IC; 3 foram hospitalizados com exacerbações de IC; 1 teve acidente vascular encefálico cardioembólico; e 1 paciente foi submetido a transplante de coração.Conclusões: Os pacientes com NCVE apresentaram comorbidades semelhantes às da população geral da sua faixa etária, exceto o aparente aumento da prevalência de FA. Estes pacientes responderam bem à terapêutica para a IC com benefício clínico. Houve poucas complicações, a maioria permaneceu clinicamente estável, sem qualquer hospitalizaçãoe com baixa taxa de mortalidade. Contudo, trata-se de um pequeno grupo de pacientes com tempo de seguimento curto.

Background: Left ventricular noncompaction (LVNC) is a distinct type of cardiomyopathy that presents several specific characteristics. The natural course of this condition is not totally known. Objectives: To define the clinical characteristics, complications and survival of patients with LVNC assisted in heart failure (HF) healthcare service.Methods: Retrospective study that included patients with LVNC treated in a HF healthcare service from Hospital São João, in Porto, Portugal, from January 2006 to February 2014. Demographic data, symptoms of heart failure and ejection fraction at the beginningof treatment, the course of LVNC (changes in functional class), side effects and survival were recorded from medical records. Results: The study included 10 patients, 6 males, with a median of 63 years of age. Nine had symptoms of HF and started taking medication to modify prognosis. Everyone had left ventricular ejection fraction <45%. One patient did not start oral anticoagulation; 7 had some degree of recovery symptoms of HF; 3 were hospitalized with heart failure exacerbations; 1 had cardioembolic stroke; and 1 patient underwent heart transplant.Conclusions: Patients with LVNC had similar comorbidities as the general population of their age group, except the apparent increase in the prevalence of AF. These patients responded well to therapy for IC with some clinical benefit. There were few complications, most remained clinically stable, without any hospitalization and low mortality rate. However, it is a small group ofpatients with short follow-up time.

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.

Isolated Noncompaction of Ventricular Myocardium: a Magnetic Resonance Imaging Study of 11 Patients

OBJECTIVE: To retrospectively summarize the cardiac magnetic resonance imaging (CMRI) findings of isolated noncompaction of ventricular myocardium (INVM). MATERIALS AND METHODS: Eleven patients (M:F = 9:2; mean age, 35 years) were evaluated. Steady-state free precession (SSFP), fast spin echo (SE) sequence, SSFP cine imaging, and delayed enhanced inversion recovery spoiled gradient echo (IR-SPGR) sequence were used for showing abnormal myocardium, measuring ratio of noncompacted/compacted myocardium layers (NC/C ratio), and detecting myocardial viability. The left ventricle was divided into nine segments and a NC/C ratio > 2.3 in diastole was used as cutoff value in diagnosing left INVM. The right ventricle was assessed qualitatively. RESULTS: Cardiac MRI indicated left INVM in seven patients, right INVM in one patient and biventricle INVM in three patients. Characteristic CMRI changes included prominent trabeculations, deep intertrabecular recesses and an increase in the NC/C ratio. The most frequently involved segments was left ventricular apex. Three patients had abnormal high signals within the trabecular structures on SE T2 weighted image. One ventricular aneurysm and one apical thrombus were also observed. Delayed enhancement was seen in six of nine patients with subendocardial and transmural patterns. CONCLUSION: There are CMRI features that might be characteristic for INVM.

Insuficiência cardíaca refratária em um paciente portador de miocárdio não compactado / Refractory heart failure in a patient with non-compacted myocardium / Insuficiencia cardiaca refractaria en un paciente portador de miocardio no compactado

A não compactação do miocárdio caracteriza-se por excessiva trabeculação e recessos dos ventrículos (usualmente o ventrículo esquerdo), devido à interrupção do processo de compactação das fibras miocárdicas durante a fase embriogênica. Essa anormalidade cursa frequentemente com insuficiência cardíaca, fenômenos tromboembólicos e arritmias cardíacas, conferindo mau prognóstico. Neste artigo descrevemos um caso de um rapaz de 26 anos com insuficiência cardíaca refratária devido a não compactação isolada do miocárdio ventricular esquerdo, que necessitou de transplante cardíaco.

The non-compacted myocardium is characterized by excessive trabeculation and ventricular recesses (usually of the left ventricle) due to the interruption of the myocardial fiber compaction during embryogenesis. This abnormality usually courses with heart failure, thromboembolic phenomena and cardiac arrhythmia, predicting a bad prognosis. We report the case of a 26-year-old male individual with refractory heart failure due to isolated left ventricular non-compacted myocardium that needed a heart transplant.

La no compactación del miocardio está caracterizada por excesiva trabeculación y recesos de los ventrículos (usualmente el ventrículo izquierdo), debido a la interrupción del proceso de compactación de las fibras miocárdicas durante la fase embriogénica. Esta anormalidad cursa frecuentemente con insuficiencia cardiaca, fenómenos tromboembólicos y arritmias cardiacas, presentando un mal pronóstico. En este artículo describimos un caso de un rapaz de 26 años con insuficiencia cardiaca refractaria debido a no compactación aislada del miocardio ventricular izquierdo, que necesitó transplante cardiaco.