Long-Term Prognostic Value of Cardiac Magnetic Resonance in Left Ventricle Noncompaction

Andreini, Daniele; Pontone, Gianluca; Bogaert, Jan; Roghi, Alberto; Barison, Andrea; Schwitter, Juerg; Mushtaq, Saima; Vovas, Georgios; Scocco, Paola; Aquaro, Giovanni Donato; Monney, Pierre; Segurini, Chiara; Guglielmo, Marco; Conte, Edoardo; Fusini, Laura; Russo, Antonio Dello; Lombardi, Massimo; Gripari, Paola; Baggiano, Andrea; Fiorentini, Cesare; Lombardi, Federico; Bartorelli, Antonio L.; Pepi, Mauro; Masci, Pier Giorgio

doi:10.1016/j.jacc.2016.08.053

Cited by 134 publications

(118 citation statements)

References 26 publications

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“…However, its presence may be important for prognostic purposes. In a study of 113 patients followed for a mean of 4 years, the presence of LV dilatation, LV dysfunction, and LGE (seen only in 11 patients) were predictive of cardiac events whereas the degree of LV trabeculation was not (34). More CMR studies of this condition are needed to establish its role in this condition as the sensitivity is high, but the specificity remains problematic.…”

Section: Genetic Cardiomyopathiesmentioning

confidence: 99%

Role of Cardiac Magnetic Resonance in the Diagnosis and Prognosis of Nonischemic Cardiomyopathy

Patel

Kramer

2017

JACC: Cardiovascular Imaging

230

140

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Cardiac magnetic resonance (CMR) is a valuable tool for the evaluation of patients with, or at risk for, heart failure and has a growing impact on diagnosis, clinical management, and decision-making. Through its ability to characterize the myocardium using multiple different imaging parameters, it provides insight into the etiology of the underlying heart failure and its prognosis. CMR is widely accepted as the reference standard for quantifying chamber size and ejection fraction. Additionally, tissue characterization techniques such as late gadolinium enhancement (LGE) and other quantitative parameters such as T1-mapping, both native and with measurement of extracellular volume fraction, T2-mapping, and T2-* mapping have been validated against histology in a wide range of clinical scenarios. In particular, the pattern of LGE in the myocardium can help determine the underlying etiology of the heart failure. The presence and extent of LGE determines prognosis in many of the non-ischemic cardiomyopathies. The use of CMR should increase as its utility in characterization and assessment of prognosis in cardiomyopathies is increasingly recognized. Cardiovascular magnetic resonance, cardiomyopathy, heart failure, hypertrophic cardiomyopathy, sarcoidosis, amyloidosis

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Section: Genetic Cardiomyopathiesmentioning

confidence: 99%

Role of Cardiac Magnetic Resonance in the Diagnosis and Prognosis of Nonischemic Cardiomyopathy

Patel

Kramer

2017

JACC: Cardiovascular Imaging

230

140

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“…12 Cardiac magnetic resonance (CMR) depicts appearance of the myocardium with excellent quality and its role in diagnosing LVNC is increasing. 13-15 LVNC is currently thought to be a genetically heterogeneous, monogenic disease with autosomal dominant, autosomal recessive, and X-linked forms reported. 16-18 The mechanism responsible for the LVNC phenotype remains unclear but is thought to be related to abnormal cardiac embryogenesis with the majority of cases being familial or genetically triggered.…”

Section: Introductionmentioning

confidence: 99%

Novel Genetic Triggers and Genotype–Phenotype Correlations in Patients With Left Ventricular Noncompaction

Miszalski−Jamka¹,

Jefferies

Mazur³

et al. 2017

Circ Cardiovasc Genet

111

100

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Background Left ventricular non-compaction (LVNC) is a genetically and phenotypically heterogeneous disease and, although increasingly recognized in clinical practice, there is a lack of widely accepted diagnostic criteria. We sought to identify novel genetic causes of LVNC and describe genotype-phenotype correlations. Methods and Results 190 patients from 174 families with left ventricular hypertrabeculation (LVHT) or LVNC were referred for cardiac magnetic resonance and whole exome sequencing. 425 control individuals were included to identify variants of interest (VOIs). We found an excess of 138 VOIs in 102 (59%) unrelated patients in 54 previously identified LVNC or other known cardiomyopathy genes. VOIs were found in 68 of 90 probands with LVNC and 34 of 84 probands with LVHT (76% and 40%, respectively; p<0.001). We identified 0, 1, and ≥2 VOIs in 72, 74, and 28 probands, respectively. We found increasing number of VOIs in a patient strongly correlated with several markers of disease severity, including ratio of non-compacted to compacted myocardium (p<0.001) and left ventricular ejection fraction (p=0.01). The presence of sarcomeric gene mutations was associated with increased occurrence of late gadolinium enhancement (p=0.004). Conclusions LVHT and LVNC likely represent a continuum of genotypic disease with differences in severity and variable phenotype explained, in part, by the number of VOIs and whether mutations are present in sarcomeric or non-sarcomeric genes. Presence of VOIs is common in patients with LVHT. Our findings expand the current clinical and genetic diagnostic approaches for patients with LVHT and LVNC.

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“…A total of 13/172 (7.5%) patients met imaging criteria for LVNC. The CHD identified in this subgroup included atrioventricular septal defects [11], dextrocardia [10], systemic and pulmonary venous return abnormalities [7], and transposition of the great arteries [5]. From this subgroup, 61% ( n = 8) of the patients developed arrhythmias; and 61% ( n = 8) required medical management for chronic heart failure.…”

mentioning

confidence: 99%

Noncompaction cardiomyopathy and heterotaxy syndrome

Martinez

Ware

Schamberger

et al. 2017

Progress in Pediatric Cardiology

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Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by compact and trabecular layers of the left ventricular myocardium. This cardiomyopathy may occur with congenital heart disease (CHD). Single cases document co-occurrence of LVNC and heterotaxy, but no data exist regarding the prevalence of this association. This study sought to determine whether a non-random association of LVNC and heterotaxy exists by evaluating the prevalence of LVNC in patients with heterotaxy. In a retrospective review of the Indiana Network for Patient Care, we identified 172 patients with heterotaxy (69 male, 103 female). Echocardiography and cardiac magnetic resonance imaging results were independently reviewed by two cardiologists to ensure reproducibility of LVNC. A total of 13/172 (7.5%) patients met imaging criteria for LVNC. The CHD identified in this subgroup included atrioventricular septal defects [11], dextrocardia [10], systemic and pulmonary venous return abnormalities [7], and transposition of the great arteries [5]. From this subgroup, 61% (n = 8) of the patients developed arrhythmias; and 61% (n = 8) required medical management for chronic heart failure. This study indicates that LVNC has increased prevalence among patients with heterotaxy when compared to the general population (0.014–1.3%) suggesting possible common genetic mechanisms. Interestingly, mice with a loss of function of Scrib or Vangl2 genes showed abnormal compaction of the ventricles, anomalies in cardiac looping, and septation defects in previous studies. Recognition of the association between LVNC and heterotaxy is important for various reasons. First, the increased risk of arrhythmias demonstrated in our population. Secondly, theoretical risk of thromboembolic events remains in any LVNC population. Finally, many patients with heterotaxy undergo cardiac surgery (corrective and palliative) and when this is associated with LVNC, patients should be presumed to incur a higher peri-operative morbidity based on previous studies. Further research will continue to determine long-term and to corroborate genetic pathways.

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Long-Term Prognostic Value of Cardiac Magnetic Resonance in Left Ventricle Noncompaction

Abstract: In patients with LVNC evaluated by using CMR, the degree of LV trabeculation seems to have no prognostic impact over and above LV dilation, LV systolic dysfunction, and presence of LGE.

Cited by 134 publications

References 26 publications

Role of Cardiac Magnetic Resonance in the Diagnosis and Prognosis of Nonischemic Cardiomyopathy

Role of Cardiac Magnetic Resonance in the Diagnosis and Prognosis of Nonischemic Cardiomyopathy

Novel Genetic Triggers and Genotype–Phenotype Correlations in Patients With Left Ventricular Noncompaction

Noncompaction cardiomyopathy and heterotaxy syndrome

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