scholarly journals Spectrum of Clinical Features and Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children

2021 ◽  
Vol 11 (4) ◽  
pp. 191-203
Author(s):  
Agata Paszkowska ◽  
Alicja Mirecka-Rola ◽  
Dorota Piekutowska-Abramczuk ◽  
Elżbieta Ciara ◽  
Łukasz Mazurkiewicz ◽  
...  
Keyword(s):  
Heart Failure ◽  
Family History ◽  
Clinical Symptoms ◽  
Sinus Bradycardia ◽  
Left Ventricular ◽  
Genetic Profile ◽  
Left Ventricular Noncompaction ◽  
Genetic Syndromes ◽  
Ventricular Noncompaction ◽  
Characteristic Features

Background: Left ventricular noncompaction (LVNC) is a genetically determined cardiomyopathy that occurs following a disruption of endomyocardial morphogenesis. The purpose of this study was to identify the clinical characteristics and genetic profile of children with LVNC. Methods: From February 2008 to July 2020, a total of 32 children (median 11.5 years) with LVNC were prospectively enrolled and followed up for a median of 4.02 years. Diagnosis was made based on characteristic features of LVNC in echocardiography and cardiovascular magnetic resonance (CMR). Patients’ clinical symptoms, family history, ECG, Holter ECG, and genetic tests were also evaluated. Results: The most common presenting symptom was heart failure (31% of children). ECG abnormalities were noted in 56% of patients. The most prominent features were ventricular arrhythmias, sinus bradycardia, and paroxysmal third-degree atrioventricular block. Most of the patients (94%) met the criteria for LVNC and CMR confirmed this diagnosis in 82% of cases. The molecular etiology was found in 53% of children. Conclusion: Although heart failure and arrhythmias were very frequent in our study group, thromboembolic events and genetic syndromes were rare. For the accurate and reliable assessment of children with LVNC, it is necessary to get to know their family history and detailed clinical profile.

scholarly journals Spectrum of Clinical Features and Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children

2021 ◽  
Author(s):  
Agata Paszkowska ◽  
Alicja Mirecka-Rola ◽  
Dorota Piekutowska-Abramczuk ◽  
Elżbieta Ciara ◽  
Łukasz Mazurkiewicz ◽  
...  
Keyword(s):  
Heart Failure ◽  
Family History ◽  
Clinical Symptoms ◽  
Sinus Bradycardia ◽  
Left Ventricular ◽  
Genetic Profile ◽  
Left Ventricular Noncompaction ◽  
Genetic Syndromes ◽  
Ventricular Noncompaction ◽  
Characteristic Features

Background: Left ventricular noncompaction (LVNC) is a genetically determined cardiomyopathy, that occurs following a disruption of endomyocardial morphogenesis. The purpose of this study was to identify the clinical characteristics and genetic profile of children with LVNC. Methods: From February 2008 to July 2020, a total of 32 children (median 11.5 years) with LVNC were prospectively enrolled and followed up for the median of 4.02 years. Diagnosis was made based on characteristic features of LVNC in echocardiography and cardiovascular magnetic resonance (CMR). Patients’ clinical symptoms, family history, ECG, Holter ECG and genetic tests were also evaluated. Results: The most common presenting symptom was heart failure (31% of children). ECG abnormalities were noted in 56% of patients. The most prominent features were ventricular arrhythmias, sinus bradycardia and paroxysmal third-degree atrioventricular block. Most of the patients (94%) met the criteria for LVNC and CMR confirmed this diagnosis in 82% of cases. The molecular etiology was found in 53% of children. Conclusion: Although heart failure and arrhythmias were very frequent in our study group, thromboembolic events and genetic syndromes were rare. For accurate and reliable assessment of children with LVNC, it is necessary to get to know their family history and detailed clinical profile.

scholarly journals Left ventricular noncompaction—a rare cause of triad: heart failure, ventricular arrhythmias, and systemic embolic events: a case report 

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Despina Toader ◽  
Alina Paraschiv ◽  
Petrișor Tudorașcu ◽  
Diana Tudorașcu ◽  
Constantin Bataiosu ◽  
...  
Keyword(s):  
Heart Failure ◽  
Cardiac Magnetic Resonance ◽  
Magnetic Resonance ◽  
Left Ventricle ◽  
Ventricular Arrhythmias ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Left Ventricular Noncompaction ◽  
Ventricular Noncompaction ◽  
The Right

Abstract Background Left ventricular noncompaction is a rare cardiomyopathy characterized by a thin, compacted epicardial layer and a noncompacted endocardial layer, with trabeculations and recesses that communicate with the left ventricular cavity. In the advanced stage of the disease, the classical triad of heart failure, ventricular arrhythmia, and systemic embolization is common. Segments involved are the apex and mid inferior and lateral walls. The right ventricular apex may be affected as well. Case presentation A 29-year-old Caucasian male was hospitalized with dyspnea and fatigue at minimal exertion during the last months before admission. He also described a history of edema of the legs and abdominal pain in the last weeks. Physical examination revealed dyspnea, pulmonary rales, cardiomegaly, hepatomegaly, and splenomegaly. Electrocardiography showed sinus rhythm with nonspecific repolarization changes. Twenty-four-hour Holter monitoring identified ventricular tachycardia episodes with right bundle branch block morphology. Transthoracic echocardiography at admission revealed dilated left ventricle with trabeculations located predominantly at the apex but also in the apical and mid portion of lateral and inferior wall; end-systolic ratio of noncompacted to compacted layers > 2; moderate mitral regurgitation; and reduced left ventricular ejection fraction. Between apical trabeculations, multiple thrombi were found. The right ventricle had normal morphology and function. Speckle-tracking echocardiography also revealed systolic left ventricle dysfunction and solid body rotation. Abdominal echocardiography showed hepatomegaly and splenomegaly. Abdominal computed tomography was suggestive for hepatic and renal infarctions. Laboratory tests revealed high levels of N-terminal pro-brain natriuretic peptide and liver enzymes. Cardiac magnetic resonance evaluation at 1 month after discharge confirmed the diagnosis. The patient received anticoagulants, antiarrhythmics, and heart failure treatment. After 2 months, before device implantation, he presented clinical improvement, and echocardiographic evaluation did not detect thrombi in the left ventricle. Coronary angiography was within normal range. A cardioverter defibrillator was implanted for prevention of sudden cardiac death. Conclusions Left ventricular noncompaction is rare cardiomyopathy, but it should always be considered as a possible diagnosis in a patient hospitalized with heart failure, ventricular arrhythmias, and systemic embolic events. Echocardiography and cardiac magnetic resonance are essential imaging tools for diagnosis and follow-up.

scholarly journals Left ventricular noncompaction: Clinical-echocardiographic study

2012 ◽  
Vol 69 (1) ◽  
pp. 32-36 ◽  
Author(s):  
Aleksandra Nikolic ◽  
Ljiljana Jovovic ◽  
Slobodan Tomic ◽  
Milan Vukovic
Keyword(s):  
Heart Failure ◽  
Clinical Presentation ◽  
Color Doppler ◽  
Neuromuscular Diseases ◽  
Left Ventricular ◽  
Left Ventricular Noncompaction ◽  
Ventricular Noncompaction ◽  
Mortality And Morbidity ◽  
Echocardiographic Examination ◽  
Myocardial Fibers

Background/Aim. Left ventricular noncompaction (LVNC) is a disorder in endomyocardial morphogenesis, seen either isolated (in the absence of other cardiac anomalies) or in association with congenital heart disease and some neuromuscular diseases. Intrauterine arrest of the compaction of myocardial fibers is postulated to be the reason of LVNC. Recognition of this condition is extremely important due to its high mortality and morbidity that lead to progressive heart failure, ventricular arrhythmias and thromboembolic events. The aim of this study was to determine the prevalence and clinical presentation of LVNC among consecutive outpatients according to clinical and echocardiographyic findings. Methode. A total of 3,854 consecutive patients examined at the Institute for Cardiovascular Diseases within a period January 2006 - January 2007 were included in the study. All the patients underwent echocardiographic examination using the same equipment (Vivid 7, GE Medical System). Echocardiographic parameters and clinical presentation in patients with echocardiographic criteria for LVNC were analyzed. Results. Analyzing 3,854 consecutive outpatients, using two-dimensional Color Doppler echocardiography from January 2006 to January 2007, 12 patients met the criteria for LVNC. Seven of them were male. The mean age at diagnosis was 45 ? 15 years. Analyzing clinical manifestation of LVNC it was found that seven patients had signs of heart failure, six had arrhythmias with no embolic events. Conclusion. Our results suggest that the real prevalence of LVNC may be higher than expected. New studies have to be done to solve this problem.

scholarly journals Left Ventricular Noncompaction: New Insights into a Poorly Understood Disease.

2020 ◽  
Vol 16 ◽  
Author(s):  
Dário Celestino Sobral Filho ◽  
Pedro Lukas do Rêgo Aquino ◽  
Guilherme de Souza Silva ◽  
Caroline Bernardi Fabro
Keyword(s):  
Clinical Manifestations ◽  
Left Ventricular ◽  
Left Ventricular Noncompaction ◽  
Genetic Syndromes ◽  
Ventricular Noncompaction ◽  
Genetic Pattern ◽  
Blood Filling ◽  
Pattern Diagnosis ◽  
First Time ◽  
Morphological Expression

: Left ventricular noncompaction (LVNC) is a congenital pathology that directly affects the lining walls of myocardial tissue, causing trabeculations with blood filling in the inner wall of the heart, concomitantly with the development of a mesocardial thinning. Although LVNC was described for the first time as long ago as 1984, our understanding of the disease with regard to its genetic pattern, diagnosis, clinical presentation and treatment is still scanty. LVNC can present as an isolated condition or associated with congenital heart disease, genetic syndromes or neuromuscular disease. This suggests that LVNC is not a distinct form of cardiomyopathy, but rather a morphological expression of different diseases. Recognition of the disease is of fundamental importance because its clinical manifestations are variable, ranging from the absence of any symptom to congestive heart failure, lethal arrhythmias and thromboembolic events. The study of this disease has emphasized its genetic aspects, as it may be of sporadic origin or hereditary, in which case it most commonly has an autosomal dominant inheritance or one linked to the X chromosome. Echocardiography is the gold standard for diagnosis, and magnetic resonance imaging may refine the identification of the disease, especially in those patients with non-conclusive echocardiography. This article sets out to review the main characteristics of the LVNC and present updates, especially in the genetic pattern, diagnosis and treatment of the disease.

LVAD as a Bridge to Heart Transplantation in a Patient with Left Ventricular Noncompaction Cardiomyopathy and Advanced Heart Failure

2016 ◽  
Vol 19 (3) ◽  
pp. 128 ◽  
Author(s):  
Andraž Cerar ◽  
Juš Kšela ◽  
Gregor Poglajen ◽  
Bojan Vrtovec ◽  
Ivan Kneževič
Keyword(s):  
Heart Failure ◽  
Heart Transplantation ◽  
Specific Treatment ◽  
Left Ventricular ◽  
Advanced Heart Failure ◽  
Circulatory Support ◽  
Left Ventricular Noncompaction ◽  
Ventricular Noncompaction ◽  
Noncompaction Cardiomyopathy ◽  
Left Ventricular Noncompaction Cardiomyopathy

Left ventricular noncompaction cardiomyopathy (LVNC) is a rare hereditary cardiomyopathy characterized by the formation of an outer compacted and inner noncompacted layer of the myocardium. The latter is characterized by prominent trabeculations and deep intertrabecular recesses and is functionally inferior to the compacted myocardium. As there is no specific treatment for patients with LVNC who develop heart failure, the management of these patients is limited and many patients progress to advanced stages of the disease. For LVNC patients with advanced heart failure, the data regarding the use of mechanical circulatory support are scarce. We report a case of a 29-year-old patient with LVNC and advanced refractory heart failure, who was successfully bridged to heart transplantation using a long-term continuous-flow left ventricular assist device.

Clinical Outcomes in Patients With Isolated Left Ventricular Noncompaction and Heart Failure

2014 ◽  
Vol 20 (10) ◽  
pp. 709-715 ◽  
Author(s):  
Ferande Peters ◽  
Bijoy K. Khandheria ◽  
Francois Botha ◽  
Elena Libhaber ◽  
Hiral Matioda ◽  
...  
Keyword(s):  
Heart Failure ◽  
Clinical Outcomes ◽  
Left Ventricular ◽  
Left Ventricular Noncompaction ◽  
Ventricular Noncompaction
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