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Role of advanced CMR features in identifying a positive genotype of hypertrophic cardiomyopathy

Saima Mushtaq1, Mattia Chiesa1, Valeria Novelli1

  • 1Centro Cardiologico Monzino IRCCS, Milan, Italy.

International Journal of Cardiology
|September 13, 2024
PubMed

Insights

Cardiac magnetic resonance (CMR) imaging reveals distinct patterns in hypertrophic cardiomyopathy (HCM) patients. The mid-septum in positive genotype HCM shows specific T1 and ECV values, aiding in diagnosis.

Area of Science:

  • Cardiology
  • Medical Imaging
  • Genetics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a prevalent inherited cardiovascular disease affecting approximately 1 in 500 individuals.
  • Cardiac magnetic resonance (CMR) imaging is a crucial non-invasive tool for assessing HCM, quantifying hypertrophy, and detecting myocardial fibrosis.

Purpose of the Study:

  • To investigate basic and advanced Cardiac magnetic resonance (CMR) imaging features in hypertrophic cardiomyopathy (HCM) patients.
  • To differentiate between HCM patients with negative and positive genotypes using CMR findings.

Main Methods:

  • A cohort of 110 hypertrophic cardiomyopathy (HCM) patients underwent both Cardiac magnetic resonance (CMR) and genetic testing.
  • Standardized CMR protocols including T1 mapping, T2 mapping, and late gadolinium enhancement (LGE) were employed.
  • Patients were categorized into two groups: negative genotype (Group 1) and positive genotype (Group 2).

Main Results:

  • Positive genotype HCM patients exhibited significantly higher left ventricular (LV) mass and thickness compared to negative genotype patients.
  • Late gadolinium enhancement (LGE) was more extensive in positive genotype HCM patients, both in absolute and relative terms.
  • Specific segments of the mid-septum (segments 8 and 9) showed altered native T1 and ECV values in positive genotype HCM, with lower mean T2 values observed.

Conclusions:

  • The mid-septum, specifically segments 8 and 9, is identified as a key region for diagnosing positive genotype HCM using Cardiac magnetic resonance (CMR).
  • CMR-derived parameters, including T1 mapping, T2 mapping, and LGE, provide valuable insights into genotypic stratification in HCM.
Abstract

Keywords:
GenotypeHypertrofic cardiomiopathyMapping

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