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Echocardiographic evaluation of pre-diagnostic development in young relatives genetically predisposed to hypertrophic

Morten K Jensen1, Ole Havndrup2, Michael Christiansen3

  • 1The Unit for Inherited Heart Diseases, The Heart Center, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark. mortenjensen@dadlnet.dk.

The International Journal of Cardiovascular Imaging
|August 2, 2015
PubMed

Insights

Children with hypertrophic cardiomyopathy (HCM) gene mutations show early echocardiographic changes. These include reduced left ventricular size and altered diastolic function, appearing before diagnosis.

Area of Science:

  • Cardiology
  • Genetics
  • Echocardiography

Background:

  • Early identification of hypertrophic cardiomyopathy (HCM) echocardiographic changes is crucial for clinical management and understanding disease pathogenesis.
  • Longitudinal studies tracking pre-diagnostic echocardiographic changes in young relatives of HCM patients are essential.

Purpose of the Study:

  • To investigate the development of pre-diagnostic echocardiographic alterations in young relatives of HCM patients over a 12-year follow-up period.
  • To compare echocardiographic parameters between gene mutation carriers, non-carriers, and relatives with unknown genetic status.

Main Methods:

  • Inclusion of HCM relatives under 18 years old, not meeting diagnostic criteria for HCM.
  • Echocardiographic evaluations performed at baseline and after 12 ± 1 years.
  • Genetic screening of sarcomere genes (CRYAB, α-GAL, titin) to categorize participants into non-carriers, carriers (phenotype-negative), and unknown genetic status groups.

Main Results:

  • At baseline (age 11 ± 5 years), no significant echocardiographic differences were observed between groups.
  • During follow-up (age 23 ± 5 years), carriers (n=8) exhibited significantly lower left ventricular end-diastolic dimension (LVEDd) (41 ± 4 mm vs. 46 ± 4 mm; p=0.04) and higher E/e' ratio (6 ± 1 vs. 5 ± 1; p=0.003) compared to non-carriers (n=23).
  • Relatives with unknown genetic status (n=24) showed no significant differences in LVEDd or E/e' compared to non-carriers, although some had Z-scores >2.

Conclusions:

  • Children carrying pathogenic sarcomere gene mutations for HCM develop reduced LVEDd and increased E/e' as the first pre-diagnostic echocardiographic manifestations.
  • These echocardiographic changes emerge during follow-up into adulthood, highlighting their potential as early biomarkers for HCM.

Keywords:
CardiomyopathyCarriersChildrenDiastolic functionDimensionsFamily screeningHypertrophyInherited heart diseaseLeft ventricleSarcomere gene mutation

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