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An unusual presentation of a myocardial crypt in hypertrophic cardiomyopathy

Danny A J P van de Sande1, Jan Hoogsteen1, Luc J H J Theunissen1

  • 1Department of Cardiology, Máxima Medical Center, De Run 4600, 5504 DB Veldhoven, The Netherlands.

Case Reports in Cardiology
|December 6, 2014
PubMed

Insights

This case study highlights an unusual finding of deep myocardial crypts in a patient with hypertrophic cardiomyopathy (HCM). These crypts were found in an uncommon location and morphology, despite genotypic and phenotypic HCM expression.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Hypertrophic cardiomyopathy (HCM) is a prevalent inherited cardiovascular disease affecting 0.2% of the population.
  • Over 1000 mutations in over 10 genes encoding cardiac sarcomere proteins are linked to HCM.
  • Cardiac magnetic resonance imaging (CMR) precisely characterizes left ventricular morphology and identifies unique structural abnormalities in HCM.

Purpose of the Study:

  • To present a rare case of hypertrophic cardiomyopathy (HCM) with unusual myocardial crypt findings.
  • To document the genotypic and phenotypic characteristics of the patient.
  • To highlight the diagnostic role of CMR in identifying rare structural abnormalities.

Main Methods:

  • Case report of a 56-year-old man with a family history of HCM.
  • Genetic testing identified the MYH-7 2770 G > C, exon 23 mutation.
  • Transthoracic echocardiography and Cardiac Magnetic Resonance Imaging (CMR) were used for diagnosis and characterization.

Main Results:

  • The patient had a confirmed MYH-7 mutation, indicative of genotypic HCM.
  • Transthoracic echocardiography showed significant interventricular septum thickening (16 mm).
  • CMR confirmed HCM with anteroseptal thickening (23 mm) and revealed unusually large, deep myocardial crypts in the anterior wall, rarely observed in genotype-positive, phenotype-positive individuals.

Conclusions:

  • This case demonstrates an uncommon finding of myocardial crypts with unusual morphology and location in a patient with genotypically and phenotypically expressed hypertrophic cardiomyopathy.
  • The findings underscore the importance of advanced imaging like CMR in detecting rare structural variations in HCM.
  • The deep and wide nature of the crypts in this case exceeds previously reported instances, suggesting a unique presentation of the disease.

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