An Unusual Presentation of a Myocardial Crypt in Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiovascular disease with prevalence of 0.2% in the population. More than 1000 mutations in more than 10 genes encoding for proteins of the cardiac sarcomere have been identified. Cardiac magnetic resonance imaging (CMR) is used to characteri...

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Main Authors: Danny A. J. P. van de Sande, Jan Hoogsteen, Luc J. H. J. Theunissen
Format: Article
Language:English
Published: Hindawi Limited 2014-01-01
Series:Case Reports in Cardiology
Online Access:http://dx.doi.org/10.1155/2014/737052
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spelling doaj-545f900fbc8645e38afc334c916e378a2020-11-24T23:22:18ZengHindawi LimitedCase Reports in Cardiology2090-64042090-64122014-01-01201410.1155/2014/737052737052An Unusual Presentation of a Myocardial Crypt in Hypertrophic CardiomyopathyDanny A. J. P. van de Sande0Jan Hoogsteen1Luc J. H. J. Theunissen2Department of Cardiology, Máxima Medical Center, De Run 4600, 5504 DB Veldhoven, The NetherlandsDepartment of Cardiology, Máxima Medical Center, De Run 4600, 5504 DB Veldhoven, The NetherlandsDepartment of Cardiology, Máxima Medical Center, De Run 4600, 5504 DB Veldhoven, The NetherlandsHypertrophic cardiomyopathy (HCM) is a common inherited cardiovascular disease with prevalence of 0.2% in the population. More than 1000 mutations in more than 10 genes encoding for proteins of the cardiac sarcomere have been identified. Cardiac magnetic resonance imaging (CMR) is used to characterize left ventricular morphology with great precision in patients with HCM and it identifies unique structural abnormalities in patients with HCM. We present a case of a 56-year-old man who had positive family history of HCM who was a carrier of the genetic MYH-7 2770 G > C, exon 23 mutation. Transthoracic echocardiography showed thickening of the interventricular septum (16 mm) and in particular the basal septum. CMR confirmed the diagnosis of HCM in the anteroseptal myocardium with a thickness of 23 mm and also revealed large and deep myocardial crypts in the anterior wall. These myocardial crypts are rarely found in the so-called genotype positive and phenotype positive patients, as in our case. Also the crypts in this case are deeper and wider than those reported in other cases. So in conclusion, this case reveals an uncommon finding of a myocardial crypt at an unusual myocardial site with the unusual morphology in a patient with genotypic and phenotypic expression of hypertrophic cardiomyopathy.http://dx.doi.org/10.1155/2014/737052
collection DOAJ
language English
format Article
sources DOAJ
author Danny A. J. P. van de Sande
Jan Hoogsteen
Luc J. H. J. Theunissen
spellingShingle Danny A. J. P. van de Sande
Jan Hoogsteen
Luc J. H. J. Theunissen
An Unusual Presentation of a Myocardial Crypt in Hypertrophic Cardiomyopathy
Case Reports in Cardiology
author_facet Danny A. J. P. van de Sande
Jan Hoogsteen
Luc J. H. J. Theunissen
author_sort Danny A. J. P. van de Sande
title An Unusual Presentation of a Myocardial Crypt in Hypertrophic Cardiomyopathy
title_short An Unusual Presentation of a Myocardial Crypt in Hypertrophic Cardiomyopathy
title_full An Unusual Presentation of a Myocardial Crypt in Hypertrophic Cardiomyopathy
title_fullStr An Unusual Presentation of a Myocardial Crypt in Hypertrophic Cardiomyopathy
title_full_unstemmed An Unusual Presentation of a Myocardial Crypt in Hypertrophic Cardiomyopathy
title_sort unusual presentation of a myocardial crypt in hypertrophic cardiomyopathy
publisher Hindawi Limited
series Case Reports in Cardiology
issn 2090-6404
2090-6412
publishDate 2014-01-01
description Hypertrophic cardiomyopathy (HCM) is a common inherited cardiovascular disease with prevalence of 0.2% in the population. More than 1000 mutations in more than 10 genes encoding for proteins of the cardiac sarcomere have been identified. Cardiac magnetic resonance imaging (CMR) is used to characterize left ventricular morphology with great precision in patients with HCM and it identifies unique structural abnormalities in patients with HCM. We present a case of a 56-year-old man who had positive family history of HCM who was a carrier of the genetic MYH-7 2770 G > C, exon 23 mutation. Transthoracic echocardiography showed thickening of the interventricular septum (16 mm) and in particular the basal septum. CMR confirmed the diagnosis of HCM in the anteroseptal myocardium with a thickness of 23 mm and also revealed large and deep myocardial crypts in the anterior wall. These myocardial crypts are rarely found in the so-called genotype positive and phenotype positive patients, as in our case. Also the crypts in this case are deeper and wider than those reported in other cases. So in conclusion, this case reveals an uncommon finding of a myocardial crypt at an unusual myocardial site with the unusual morphology in a patient with genotypic and phenotypic expression of hypertrophic cardiomyopathy.
url http://dx.doi.org/10.1155/2014/737052
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