Hypertrophic Cardiomyopathy With Restrictive Phenotype and Myocardial Crypts

Department of Radiology, University of Rome Sapienza, Viale Regina Elena, Rome, Italy.
Journal of thoracic imaging (Impact Factor: 1.74). 05/2010; 25(4):W121-3. DOI: 10.1097/RTI.0b013e3181ced17a
Source: PubMed


This report describes a 22-year-old woman who has clinical and physiologic features of a restrictive cardiomyopathy. Magnetic resonance imaging showed myocardial delayed enhancement and interventricular septal crypts characteristic of hypertrophic cardiomyopathy (HCM). Transcatheter biopsy confirmed the diagnosis, revealing marked myocyte hypertrophy, interstitial fibrosis, and fiber disarray, which are findings consistent with HCM. A review of the literature suggests that this is the first case of HCM reported with a restrictive pattern and myocardial crypts.

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    • "More than 1000 mutations in more than 10 genes encoding for proteins of the cardiac sarcomere have been identified [1]. A thickened (hypertrophied) nondilated left ventricle (LV) characterizes HCM in the absence or without evidence of a cardiac or systemic disease, which is able to produce such a grade of hypertrophy [1] [2]. This thickening can be detected by 2D echocardiography and CMR provides an advanced imaging tool to characterize the phenotypic expression of HCM [3]. "
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    ABSTRACT: 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.
    Full-text · Article · Nov 2014
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    • "There are three major types of cardiomyopathy – dilated cardiomyopathy (DCM) [3], hypertrophic cardiomayopathy [4], and restrictive cardiomyopathy [5]. Hypertrophic cardiomyopathy is a genetic disorder that causes a chaotic growth of heart muscle cells within the ventricles and can cause potentially fatal cardiac arrhythmias. "
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    ABSTRACT: Although chronic sympathetic activation provides inotropic and chronotropic support to the failing heart, such activation may also have deleterious effects, including the direct cardiotoxic effects of catecholamines, activation of the renin-angiotensin-aldosterone system and an increase in myocardial oxygen demand. These observations indicate that β-blockade might be beneficial in the treatment of heart failure resulting from dilated cardiomyopathy or ischaemic heart disease. Carvedilol is a non-selective β-blocker acting on β1-, β2-, and α1-adrenoceptors. It possesses potent anti-oxidant and anti-apoptotic properties, along with neuroprotective, vasculoprotective, cardioprotective effects, and it has reduced overall mortality in patients with heart failure in controlled clinical trials. Its role in treating cardiomyopathy requires focus. The fact that anthracyclines are cardiotoxic seriously narrows their therapeutic index in cancer therapy. The cardiotoxic risk increases with the cumulative dose and may lead to congestive heart failure and dilated cardiomyopathy in adults and in children. This review focuses on recent research regarding the beneficial effects of carvedilol in the treatment of dilated cardiomyopathy and to revisit the available evidence on the cardioprotection of carvedilol when associated with anthracycline and to explain the mechanisms underlying the benefits of their co-administration.
    Full-text · Article · May 2011 · Pharmaceuticals