Systolic Anterior Motion of the Anterior Mitral Leaflet and Hypertrophic Cardiomyopathy: A Predictor of Non-Genetic, Non-Familial Disease?

Medford, Beth A.; Haugaa, Kristina H; Bos, J. Martijn; Miller, Angela R.; Ommen, Steve R.; Gersh, Bernard J.; Johnson, Jonathan N.; Cetta, Frank; Eidem, Benjamin W.; O’Leary, Patrick

doi:10.1016/s0735-1097(13)60532-x

Cited by 1 publication

(5 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Morphology aside, septal thickness as a marker of severity of hypertrophy is also an independent predictor of informative testing in adults 25‐28,33 . This finding has also been tentatively reported in children 37,60 .…”

Section: Resultssupporting

confidence: 73%

“…Morphology aside, septal thickness as a marker of severity of hypertrophy is also an independent predictor of informative testing in adults. [25][26][27][28]33 This finding has also been tentatively reported in children. 37,60 An important source of heterogeneity in the literature are different reported classifications of septal thickness, which limits direct comparison of data.…”

Section: Septal Thicknesssupporting

confidence: 83%

“…The largest study in our review found an LVOT gradient of >30 mmHg to be predictive of informative genetic testing. The presence of systolic anterior motion of the anterior mitral leaflet has been reported to be negatively associated with presence of a pathogenic variant in HCM 26 . The ratio of end‐systolic left atrial diameter to end‐diastolic left ventricular diameter has been reported as a positive predictor in one study 29 .…”

Section: Resultsmentioning

confidence: 90%

“…The presence of systolic anterior motion of the anterior mitral leaflet has been reported to be negatively associated with presence of a pathogenic variant in HCM. 26 The ratio of end-systolic left atrial diameter to end-diastolic left ventricular diameter has been reported as a positive predictor in one study. 29 Right atrial enlargement has also been suggested as a predictor in one study [Limongelli et al, 2016].…”

Section: Other Parametersmentioning

confidence: 94%

“…Patients with informative genetic testing are significantly younger [25][26][27][28][29][30][31] regardless of the geographic origin of the studied cohort. [32][33][34] Some authors report female sex to also be a predictor, including a multi-national cohort.…”

Section: Clinical Characteristicsmentioning

confidence: 99%

See 4 more Smart Citations

Clinical prediction of genotypes in hypertrophic cardiomyopathy: A systematic review

Aziz

Musiol

Moody

et al. 2021

Eur J Clin Investigation

View full text Add to dashboard Cite

Introduction: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac condition and the most common cause of sudden cardiac death (SCD) in patients below the age of 35. Genetic testing is a vital part of HCM diagnostics, yet correlation with clinical phenotypes remains complex. Identifying clinical predictors of informative genetic testing may prevent unnecessary investigations and improve cost-effectiveness of services. This article reviews the current literature pertinent to identifying such predictors. Methods: Five literature databases were screened using a suitably designed search strategy. Studies investigating the correlation between having a positive genetic test for HCM and a range of clinical and radiological parameters were included in the systematic review. Results: Twenty-nine observational studies of a total of 9,486 patients were included. The main predictors of informative genetic testing were younger age, higher septal thickness, reverse septal curvature, family history of HCM and SCD and the absence of hypertension. Two externally validated scoring systems have also been developed: the Mayo and Toronto scores. Novel imaging markers and complex algorithmic models are emerging predictors. Conclusion: Using clinical predictors to decide whom to test is a feasible alternative to investigating all comers. Nonetheless, currently there is not enough evidence to unequivocally recommend for or against this strategy. Further validation of current predictors and identification of new ones remain open research avenues. K E Y W O R D S genotype, hypertrophic cardiomyopathy 2 of 16 | AZIZ et Al.

show abstract

Section: Resultssupporting

confidence: 73%