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CMR derived left ventricular septal convexity in carriers of the hypertrophic cardiomyopathy-causing MYBPC3-Q1061X

Mika Tarkiainen1, Petri Sipola1, Mikko Jalanko2

  • 1Department of Radiology, Kuopio University Hospital, Kuopio, Finland.

Scientific Reports
|April 13, 2019
PubMed

Insights

Septal convexity is increased in individuals with the MYBPC3-Q1016X mutation, a cause of hypertrophic cardiomyopathy (HCM). This finding holds true even in mutation carriers without left ventricular hypertrophy (LVH), suggesting it reflects septal remodeling.

Area of Science:

  • Cardiology
  • Genetics
  • Biomedical Imaging

Background:

  • Hypertrophic cardiomyopathy (HCM) is often associated with mutations in genes like MYBPC3.
  • Increased septal convexity of the left ventricle has been observed in HCM patients, sometimes even without evident left ventricular hypertrophy (LVH).
  • The Finnish founder mutation Q1016X in the MYBPC3 gene is a known cause of HCM.

Purpose of the Study:

  • To investigate septal convexity using cardiac magnetic resonance (CMR) in individuals with the MYBPC3-Q1016X mutation.
  • To determine if septal convexity is altered in mutation carriers, with or without LVH.
  • To explore the relationship between septal convexity and other cardiac parameters.

Main Methods:

  • Cardiac magnetic resonance (CMR) imaging was used to measure septal convexity in the end-diastolic 4-chamber view.
  • The study included 67 participants: 47 with the MYBPC3-Q1016X mutation and 20 healthy controls.
  • Measurements were compared between mutation carriers (with and without LVH) and controls.

Main Results:

  • Septal convexity was significantly increased in mutation carriers with LVH compared to controls (11.4 ± 4.3 mm vs 2.7 ± 3.2 mm, P < 0.001).
  • A trend towards increased septal convexity was observed in mutation carriers without LVH compared to controls (4.9 ± 2.5 mm vs 2.7 ± 3.2 mm, P = 0.074).
  • When indexed for body surface area (BSA), septal convexity was significantly higher in mutation carriers without LVH (2.8 ± 1.4 mm/m² vs 1.5 ± 1.6 mm/m², P = 0.036).
  • Septal convexity correlated with BSA, age, maximal LV wall thickness, LV mass, and late gadolinium enhancement in all mutation carriers.

Conclusions:

  • Individuals with the MYBPC3-Q1016X mutation exhibit increased septal convexity, regardless of the presence of LVH.
  • Septal convexity appears to be a marker of septal remodeling in HCM.
  • This measurement may aid in identifying mutation carriers who do not yet show LVH on imaging.

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