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January 1, 2015Journal of Cardiovascular Magnetic ResonanceOpen Access

Abnormal septal convexity into the left ventricle occurs in subclinical hypertrophic cardiomyopathy

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Key result

Gene mutation carriers without left ventricular hypertrophy exhibited significantly increased septal convexity into the left ventricle compared to healthy controls (5.0 vs 1.6 mm, p<0.0001).

Why the study?

Does the presence of a pathogenic sarcomere mutation without left ventricular hypertrophy increase left ventricular septal convexity compared to healthy controls?

Population

72 individuals, comprising 36 pathogenic sarcomere mutation carriers without left ventricular hypertrophy…

Comparison

Presence of a pathogenic sarcomere mutation… vs Healthy volunteers matched for age, sex, body…

Design

Case-control, Electrocardiographic images were analyzed by an experienced…

Authors

Patricia Réant
Patricia RéantHeart Failure / Cardiomyopathy
GCGabriella CapturCardiac ImagingMMMariana MirabelInstitute Mutualiste Montsouris

Discussion

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Implication

Increased septal convexity may flag subclinical HCM in sarcomere carriers; leaves open prospective validation as an imaging biomarker.

Study Design

Type

Case-Control (n=72)

Blinding

Blinded analysis

Multicenter

No

Structured PICO

Does the presence of a pathogenic sarcomere mutation without left ventricular hypertrophy increase left ventricular septal convexity compared to healthy controls?

P
Population
72 individuals, comprising 36 pathogenic sarcomere mutation carriers without left ventricular hypertrophy (G+LVH-, mean age 31.3, 33% male) and 36 age-, sex-, body surface area-, and ethnicity-matched healthy controls (mean age 33.4, 33% male) from a UK center.
I
Intervention
Presence of a pathogenic sarcomere mutation without left ventricular hypertrophy (G+LVH-)
C
Comparator
Healthy volunteers matched for age, sex, body surface area, and ethnicity, with no history of cardiovascular disease or hypertension
O
Outcome
Left ventricular septal convexity (SCx) measured in the apical four-chamber view by cardiovascular magnetic resonancesurrogate

Main Result

Absolute Event Rate: 5% vs 1.6%

p-value: p=<0.0001

Abnormal septal convexity into the left ventricle is a newly identified imaging biomarker for subclinical hypertrophic cardiomyopathy in sarcomere mutation carriers.

Limitations

  • Single centre study
  • Highly selected population (predominantly white females aged <60 years)
  • Lack of follow-up to confirm if the abnormality precedes or predicts the subsequent development of significant LVH
  • Single center study
  • Highly selected population (predominantly white females aged <60 years, no hypertension)
  • Lack of follow-up to confirm if abnormality precedes or predicts significant LVH

Cite This Study

Réant et al. (2015) conducted a case-control in Subclinical hypertrophic cardiomyopathy (n=72). Pathogenic sarcomere mutation (G+LVH-) vs. Healthy controls was evaluated on Septal convexity (SCx) into the left ventricle (p=<0.0001). Gene mutation carriers without left ventricular hypertrophy exhibited significantly increased septal convexity into the left ventricle compared to healthy controls (5.0 vs 1.6 mm, p<0.0001).

synapsesocial.com/papers/6a15979f5347fbb173a002ffhttps://doi.org/10.1186/s12968-015-0160-y

Topics

Cardiac MRIHypertrophic cardiomyopathy
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Emergence of gene mutation carriers and the expanding disease spectrum of hypertrophic cardiomyopathy2010 · 49 citations
  2. 2Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families.1997 · 307 citations
  3. 3Standardized cardiovascular magnetic resonance imaging (CMR) protocols, society for cardiovascular magnetic resonance: board of trustees task force on standardized protocols2008 · 692 citations
  4. 4An integrated map of genetic variation from 1,092 human genomes2012 · 8,283 citations
  5. 5Diagnostic, Prognostic, and Therapeutic Implications of Genetic Testing for Hypertrophic Cardiomyopathy2009 · 398 citations