Utility of serial 12-lead electrocardiograms in children with Marfan syndrome

Arunamata, Alisa; Nguyen, Charles; Ceresnak, Scott R.; Dubin, Anne M.; Olson, Inger; Murphy, Daniel J.; Tierney, Elif Seda Selamet

doi:10.1017/s1047951118000707

Cited by 4 publications

(12 citation statements)

References 18 publications

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“…The main topics covered were diagnostics (12%), cardiovascular matters (50%), skeletal matters (22%), ocular matters (9%), other medical aspects (5%) and psychosocial perspectives (2%). Most papers were published in subject‐specific journals, most commonly in heart journals (41%), as shown in Figure .…”

Section: Resultsmentioning

confidence: 99%

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A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome

et al. 2020

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Aim The present study aimed to map and summarise the research on children, aged 0‐18 years, with Marfan syndrome, identify research gaps and point to research agendas. Methods A scoping review was systematically performed by searching multiple databases from January 1996 to April 2019. Primary studies presenting results on at least six individuals aged 0‐18 years with Marfan syndrome, diagnosed according to the Ghent nosology, were selected. Results From 2341 de‐duplicated records, 92 papers were included, mapped and described. Their topics were diagnostics (12%), cardiovascular matters (50%), skeletal matters (22%), ocular matters (9%), other medical aspects (5%) and psychosocial perspectives (2%). Most studies were from Europe and North America and published between 1999 and 2019 in subject‐specific or paediatric journals, while a few were published in genetics journals. All studies had quantitative designs, and very few were multicentre studies. Each study had six to 608 subjects for a total of approximately 5809. Conclusion A wide range of research topics on adolescent and paediatric Marfan syndrome was found, but qualitative studies and a focus on psychosocial matters were lacking. Future investigations addressing noncardiovascular consequences and patient experiences are needed, as well as studies reaffirming or replicating existing intervention study results.

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Section: Resultsmentioning

confidence: 99%

“…Concerning cardiovascular matters, 46 publications matched our inclusion criteria . We sorted the papers into three subtopics by focus area: cardiovascular diagnostics (n = 16), features (n = 14) and medical and surgical treatment (n = 16; Tables ).…”

Section: Resultsmentioning

confidence: 99%

A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome

et al. 2020

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“…Prolonged atrio-ventricular conduction time and altered depolarization is suggested by longer PQ- and QTc-intervals compared to healthy controls [ 80 ]. A (mildly) prolonged QTc-interval (>440 ms) has been described in 16–20% and 9–20% of adults and children respectively, while almost no patients present with QTc-intervals >500 ms [ 14 , 80 , 81 , 85 ]. The relevance of these subtle ECG changes remains understudied, but longer QTc-intervals have been associated with ventricular arrhythmia in MFS [ 14 ].…”

Section: Association With Arrhythmiamentioning

confidence: 99%

Myocardial Function, Heart Failure and Arrhythmia in Marfan Syndrome: A Systematic Literature Review

Demolder

Kodolitsch²,

Muiño-Mosquera

et al. 2020

Diagnostics

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Marfan syndrome (MFS) is a heritable systemic connective tissue disease with important cardiovascular involvement, including aortic root dilatation and mitral valve prolapse. Life expectancy in patients with MFS is mainly determined by cardiovascular complications, among which aortic dissection or rupture are most dreaded. In recent years, heart failure and ventricular arrhythmia have drawn attention as extra-aortic cardiovascular manifestations and as additional reported causes of death. Imaging studies have provided data supporting a primary myocardial impairment in the absence of valvular disease or cardiovascular surgery, while studies using ambulatory ECG have demonstrated an increased susceptibility to ventricular arrhythmia. In this paper, current literature was reviewed in order to provide insights in characteristics, pathophysiology and evolution of myocardial function, heart failure and ventricular arrhythmia in MFS.

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“…However, in MFS + animals the increase in heart rate is not enough to provide adequate aortic blood flow, suggesting the presence of high-output cardiac failure. In fact, our analysis of the heart revealed hypertrophy of both ventricles and decreased lumen-to-heart area and without difference total heart area in MFS + animals, characteristic of cardiac insufficiency [23, 24, 25], as observed in some MFS patients [26, 27]. This important cardiac phenotype deserves further investigation.…”

Section: Discussionmentioning

confidence: 57%

Association of thoracic spine deformity and cardiovascular disease in a mouse model for Marfan syndrome

et al. 2019

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AimsCardiovascular manifestations are a major cause of mortality in Marfan syndrome (MFS). Animal models that mimic the syndrome and its clinical variability are instrumental for understanding the genesis and risk factors for cardiovascular disease in MFS. This study used morphological and ultrastructural analysis to the understanding of the development of cardiovascular phenotypes of the the mgΔloxPneo model for MFS.Methods and resultsWe studied 6-month-old female mice of the 129/Sv background, 6 wild type (WT) and 24 heterozygous animals from the mgΔloxPneo model. Descending thoracic aortic aneurysm and/or dissection (dTAAD) were identified in 75% of the MFS animals, defining two subgroups: MFS with (MFS+) and without (MFS-) dTAAD. Both subgroups showed increased fragmentation of elastic fibers, predominance of type I collagen surrounding the elastic fiber and fragmentation of interlaminar fibers when compared to WT. However, only MFS animals with spine tortuosity developed aortic aneurysm/dissection. The aorta of MFS+ animals were more tortuous compared to those of MFS- and WT mice, possibly causing perturbations of the luminal blood flow. This was evidenced by the detection of diminished aorta-blood flow in MFS+. Accordingly, only MFS+ animals presented a process of concentric cardiac hypertrophy and a significantly decreased ratio of left and right ventricle lumen area.ConclusionsWe show that mgΔloxPneo model mimics the vascular disease observed in MFS patients. Furthermore, the study indicates role of thoracic spine deformity in the development of aorta diseases. We suggest that degradation of support structures of the aortic wall; deficiency in the sustenance of the thoracic vertebrae; and their compression over the adjacent aorta resulting in disturbed blood flow is a triad of factors involved in the genesis of dissection/aneurysm of thoracic aorta.

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Utility of serial 12-lead electrocardiograms in children with Marfan syndrome

Cited by 4 publications

References 18 publications

A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome

A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome

Myocardial Function, Heart Failure and Arrhythmia in Marfan Syndrome: A Systematic Literature Review

Association of thoracic spine deformity and cardiovascular disease in a mouse model for Marfan syndrome

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