Left ventricular noncompaction − Risk stratification and genetic consideration −

Ichida, Fukiko

doi:10.1016/j.jjcc.2019.09.011

Cited by 50 publications

(57 citation statements)

References 60 publications

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“…(1) two-layered myocardium with a noncompacted-to-compacted (N/C) ratio of more than 2.0 at end diastole, (2) prominent endomyocardial trabeculations that are distributed in more than one LV wall segment, and (3) deep fossas filled with blood from the ventricular cavity on color Doppler imaging [8].…”

Section: Echocardiographic Data Collectionmentioning

confidence: 99%

Left Ventricular Noncompaction and Congenital Heart Disease Increases the Risk of Congestive Heart Failure

Hirono

Hata

Miyao

et al. 2020

JCM

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Background: Left ventricular noncompaction (LVNC) is a hereditary cardiomyopathy that is associated with high morbidity and mortality rates. Recently, LVNC was classified into several phenotypes including congenital heart disease (CHD). However, although LVNC and CHD are frequently observed, the role and clinical significance of genetics in these cardiomyopathies has not been fully evaluated. Therefore, we aimed to evaluate the impact on the perioperative outcomes of children with concomitant LVNC and CHD using next-generation sequencing (NGS). Methods: From Japanese probands with LVNC (25 males and 28 females) were enrolled and we screened 182 cardiomyopathy-associated genes in these patients using NGS. Results: The age at diagnosis of the enrolled patients ranged from 0 to 14 years (median: 0.3 months). A total of 23 patients (43.4%) were diagnosed with heart failure, 14 with heart murmur (26.4%), and 6 with cyanosis (11.3%). During the observation period, 31 patients (58.5%) experienced heart failure and 13 (24.5%) developed arrhythmias such as ventricular tachycardia, supraventricular tachycardia, and atrioventricular block. Moreover, 29 patients (54.7%) had ventricular septal defects (VSDs), 17 (32.1%) had atrial septal defects, 10 had patent ductus arteriosus (PDA), and 7 (13.2%) had Ebstein's anomaly and double outlet right ventricle. Among the included patients, 30 underwent surgery, 19 underwent biventricular repair, and 2 underwent pulmonary artery banding, bilateral pulmonary artery banding, and PDA ligation. Overall, 30 genetic variants were identified in 28 patients with LVNC and CHD. Eight variants were detected in MYH7 and two in TPM1. Echocardiography showed lower ejection fractions and more thickened trabeculations in the left ventricle in patients with LVNC and CHD than in age-matched patients with VSDs. During follow-up, 4 patients died and the condition of 8 worsened postoperatively. The multivariable proportional hazards model showed that heart failure, LV ejection fraction of < 24%, LV end-diastolic diameter z-score of > 8.56, and noncompacted-to-compacted ratio of the left ventricular apex of > 8.33 at the last visit were risk factors for survival. Conclusions: LVNC and CHD are frequently associated with genetic abnormalities. Knowledge of the association between CHD and LVNC is important for the awareness of clinical implications during the preoperative and postoperative periods to identify the populations who are at an increased risk of additional morbidity.

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Section: Echocardiographic Data Collectionmentioning

confidence: 99%

Left Ventricular Noncompaction and Congenital Heart Disease Increases the Risk of Congestive Heart Failure

Hirono

Hata

Miyao

et al. 2020

JCM

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“…16 Isolated LVNC with normal systolic function has the best outcome. 17 However, LVNC with congenital heart disease is associated with more extensive trabeculations, worse systolic function, and genetic abnormalities. 18 Our patient needs to be monitored for LV systolic dysfunction, thromboembolic episodes, and arrhythmias, which pose a significant risk to the health.…”

Section: Discussionmentioning

confidence: 99%

Partial Trisomy 16q21-q24.3 with Novel Cardiac Manifestation of Left Ventricular Noncompaction Cardiomyopathy: A Case Report

2020

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Partial trisomy 16q is most often a consequence of malsegregation from a balanced parental translocation involving chromosome 16q. It is characterized by nonspecific craniofacial dysmorphic features, hypotonia, developmental delay, psychomotor retardation, and systemic manifestations of cardiac defect, renal abnormalities, and lung abnormalities. The survival of these patients depends upon the extent and severity of the organs involved. The present literature is replete with cases of partial trisomy 16q having structural cardiac defects. However, in the present report we describe a novel finding of myocardial disease in the form of left ventricular noncompaction (LVNC) cardiomyopathy associated with this genetic condition.

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“…Außerdem variieren Schweregrad und Beginn der Symptomatik bei ein und derselben Mutation mitunter sehr deutlich, bis hin zu Individuen, die trotz vorhandener, klar als pathogen eingestufter Mutation in einem LVNC-assoziierten Gen ihr Leben lang kein nennenswertes Herzproblem entwickeln. [16,17].…”

Section: Pathophysiologie Und Genetischer Hintergrundunclassified

Linksventrikuläre Non-Compaction-Kardiomyopathie

Verheyen¹,

Juch²,

Ablasser³

2020

Kardiologie up2date

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Left ventricular noncompaction − Risk stratification and genetic consideration −

Cited by 50 publications

References 60 publications

Left Ventricular Noncompaction and Congenital Heart Disease Increases the Risk of Congestive Heart Failure

Left Ventricular Noncompaction and Congenital Heart Disease Increases the Risk of Congestive Heart Failure

Partial Trisomy 16q21-q24.3 with Novel Cardiac Manifestation of Left Ventricular Noncompaction Cardiomyopathy: A Case Report

Linksventrikuläre Non-Compaction-Kardiomyopathie

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