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.

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.

A Rare Case of Left Ventricular Noncompaction in LEOPARD Syndrome

No abstract available.

Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation

The fact that different types of cardiomyopathies can be manifested by the same sarcomere protein gene mutation in a single family is well known. However, mixed features of different types of cardiomyopathies in a single patient have not been well appreciated. We identified a novel mutation in cardiac troponin I3 (Arg186Gly) in the present case, and two of the family members showed mixed morphologic features of hypertrophic cardiomyopathy and left ventricular non-compaction. Moreover, both the features of cardiomyopathies were not apparent for each type of cardiomyopathy. In the patient's family, four other members had unexpected deaths before the age of 30.