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      Apical hypertrophic cardiomyopathy: diagnosis, medical and surgical treatment

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          Abstract

          Apical hypertrophic cardiomyopathy (AHCM) is a rare form of hypertrophic cardiomyopathy, occasionally resulting in severe complications. The paper covers the etiology and pathogenesis of AHCM, different imaging methods and characteristic appearance of the disease in each of them. Echocardiography and cardiovascular magnetic resonance imaging (CMR) are known to be the most valuable imaging methods. Moreover, this review presents medical and surgical treatment, as well as the clinical course and prognosis. Despite possible morbid events the overall cardiovascular mortality rate of AHCM patients is low, and the prognosis is relatively optimistic.

          Streszczenie

          Kardiomiopatia koniuszkowa (AHCM) jest rzadką postacią kardiomiopatii przerostowej, która w niektórych przypadkach powoduje poważne komplikacje. Autorzy przedstawiają etiologię i patogenezę AHCM oraz różne techniki obrazowania pozwalające na ustalenie rozpoznania. Echokardiografia i magnetyczny rezonans jądrowy są najlepszymi metodami diagnostycznymi. Ponadto autorzy omawiają aktualne metody leczenia farmakologicznego i chirurgicznego, a także przebieg kliniczny i rokowanie. Pomimo występowania poważnych powikłań śmiertelność pacjentów z AHCM jest stosunkowo mała, a przebieg łagodny.

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          Long-term outcome in patients with apical hypertrophic cardiomyopathy.

          Maria J. Eriksson, Brian Sonnenberg, Anna Woo … (2002)
          The aim of this study was to describe long-term outcome in patients with apical hypertrophic cardiomyopathy (ApHCM) followed in a tertiary referral center. Apical hypertrophic cardiomyopathy is a relatively rare form of hypertrophic cardiomyopathy (HCM), first described in Japan. Initial reports, based on a limited number of patients, emphasized the benign nature of this condition. A retrospective study of 105 patients with ApHCM diagnosed at the Toronto General Hospital from 1975 to 2000 was performed. Symptoms, clinical findings, mortality and cardiovascular morbidity were analyzed. The mean age at presentation was 41.4 +/- 14.5 years. During a mean follow-up of 13.6 +/- 8.3 years from presentation, cardiovascular mortality was 1.9% (2/105) and annual cardiovascular mortality was 0.1%. Overall survival was 95% at 15 years. Thirty-two patients (30%) had one or more major morbid events, the most frequent being atrial fibrillation (12%) and myocardial infarction (10%). Probability of survival without morbid events was 74% at 15 years. Three predictors of cardiovascular morbidity were identified: age at presentation or = II at baseline. Forty-four percent of the patients were asymptomatic at the time of last follow-up. Apical hypertrophic cardiomyopathy in North American patients is not associated with sudden cardiac death and has a benign prognosis in terms of cardiovascular mortality. Nevertheless, one third of these patients experience serious cardiovascular complications, such as myocardial infarction and arrhythmias. These data are likely to influence the counseling and management of patients with ApHCM.
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            Clinical Utility of Cardiovascular Magnetic Resonance in Hypertrophic Cardiomyopathy

            Martin S. Maron (2012)
            Hypertrophic cardiomyopathy (HCM) is characterized by substantial genetic and phenotypic heterogeneity, leading to considerable diversity in clinical course including the most common cause of sudden death in young people and a determinant of heart failure symptoms in patients of any age. Traditionally, two-dimensional echocardiography has been the most reliable method for establishing a clinical diagnosis of HCM. However, cardiovascular magnetic resonance (CMR), with its high spatial resolution and tomographic imaging capability, has emerged as a technique particularly well suited to characterize the diverse phenotypic expression of this complex disease. For example, CMR is often superior to echocardiography for HCM diagnosis, by identifying areas of segmental hypertrophy (ie., anterolateral wall or apex) not reliably visualized by echocardiography (or underestimated in terms of extent). High-risk HCM patient subgroups identified with CMR include those with thin-walled scarred LV apical aneurysms (which prior to CMR imaging in HCM remained largely undetected), end-stage systolic dysfunction, and massive LV hypertrophy. CMR observations also suggest that the cardiomyopathic process in HCM is more diffuse than previously regarded, extending beyond the LV myocardium to include thickening of the right ventricular wall as well as substantial morphologic diversity with regard to papillary muscles and mitral valve. These findings have implications for management strategies in patients undergoing invasive septal reduction therapy. Among HCM family members, CMR has identified unique phenotypic markers of affected genetic status in the absence of LV hypertrophy including: myocardial crypts, elongated mitral valve leaflets and late gadolinium enhancement. The unique capability of contrast-enhanced CMR with late gadolinium enhancement to identify myocardial fibrosis has raised the expectation that this may represent a novel marker, which may enhance risk stratification. At this time, late gadolinium enhancement appears to be an important determinant of adverse LV remodeling associated with systolic dysfunction. However, the predictive significance of LGE for sudden death is incompletely resolved and ultimately future large prospective studies may provide greater insights into this issue. These observations underscore an important role for CMR in the contemporary assessment of patients with HCM, providing important information impacting diagnosis and clinical management strategies.
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              Characteristics and clinical significance of late gadolinium enhancement by contrast-enhanced magnetic resonance imaging in patients with hypertrophic cardiomyopathy.

              Rick A. Nishimura, Steve R. Ommen, A. Araoz … (2009)
              Myocardial late gadolinium enhancement (LGE) on contrast-enhanced magnetic resonance imaging (CE-MRI) of patients with hypertrophic cardiomyopathy (HCM) has been suggested to represent intramyocardial fibrosis and, as such, an adverse prognostic risk factor. We evaluated the characteristics of LGE on CE-MRI and explored whether LGE among patients with HCM was associated with genetic testing, severe symptoms, ventricular arrhythmias, or sudden cardiac death (SCD). Four hundred twenty-four patients with HCM (age=55+/-16 years [range 2 to 90], 41% females), without a history of septal ablation/myectomy, underwent CE-MRI (GE 1.5 Tesla). We evaluated the relation between LGE and HCM genes status, severity of symptoms, and the degree of ventricular ectopy on Holter ECG. Subsequent SCD and appropriate implanted cardioverter defibrillator (ICD) therapies were recorded during a mean follow-up of 43+/-14 months (range 16 to 94). Two hundred thirty-nine patients (56%) had LGE on CE-MRI, ranging from 0.4% to 65% of the left ventricle. Gene-positive patients were more likely to have LGE (P or=3 dyspnea and angina class >or=3 were similar in patients with and without LGE (125 of 239 [52%] versus 94 of 185 [51%] and 24 of 239 [10%] versus 18 of 185 [10%], respectively, P=NS). LGE-positive patients were more likely to have episodes of nonsustained ventricular tachycardia (34 of 126 [27%] versus 8 of 94 [8.5%], P<0.001), had more episodes of nonsustained ventricular tachycardia per patient (4.5+/-12 versus 1.1+/-0.3, P=0.04), and had higher frequency of ventricular extrasystoles/24 hours (700+/-2080 versus 103+/-460, P=0.003). During follow-up, SCD occurred in 4 patients, and additional 4 patients received appropriate ICD discharges. All 8 patients were LGE positive (event rate of 0.94%/y, P=0.01 versus LGE negative). Two additional heart failure-related deaths were recorded among LGE-positive patients. Univariate associates of SCD or appropriate ICD discharge were positive LGE (P=0.002) and presence of nonsustained ventricular tachycardia (P=0.04). The association of LGE with events remained significant after controlling for other risk factors. In patients with HCM, presence of LGE on CE-MRI was common and more prevalent among gene-positive patients. LGE was not associated with severe symptoms. However, LGE was strongly associated with surrogates of arrhythmia and remained a significant associate of subsequent SCD and/or ICD discharge after controlling for other variables. If replicated, LGE may be considered an important risk factor for sudden death in patients with HCM.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Kardiochir Torakochirurgia Pol
                Journal ID (iso-abbrev): Kardiochir Torakochirurgia Pol
                Journal ID (publisher-id): KITP
                Title: Kardiochirurgia i Torakochirurgia Polska = Polish Journal of Cardio-Thoracic Surgery
                Publisher: Termedia Publishing House
                ISSN (Print): 1731-5530
                ISSN (Electronic): 1897-4252
                Publication date (Electronic): 31 December 2018
                Publication date (Print): December 2018
                Volume: 15
                Issue: 4
                Pages: 246-253
                Affiliations
                [1 ]Cardiology Institute and Clinic, Poznan University of Medical Sciences, Poznan, Poland
                [2 ]Hypertensiology, Angiology and Internal Medicine Institute, Poznan University of Medical Sciences, Poznan, Poland
                [3 ]Erich & Hanna Klessmann-Institute, Heart & Diabetes Center NRW, Bad Oeynhausen, Germany
                [4 ]Department of Thoracic and Cardiovascular Surgery, Heart and Diabetes Center NRW Ruhr-University of Bochum, Bad Oeynhausen, Germany
                Author notes
                Address for correspondence: Jerzy Paluszkiewicz, Cardiology Institute and Clinic, Poznan University of Medical Sciences, 1/2 Długa St, 61-848 Poznan, Poland. e-mail: jpalusz@ 123456gmail.com
                Article
                Publisher ID: 80922
                DOI: 10.5114/kitp.2018.80922
                PMC ID: 6329883
                PubMed ID: 30647749
                SO-VID: 356f4348-80c1-4b2b-9dfb-045bdefab16c
                Copyright © Copyright: © 2018 Polish Society of Cardiothoracic Surgeons (Polskie Towarzystwo KardioTorakochirurgów) and the editors of the Polish Journal of Cardio-Thoracic Surgery (Kardiochirurgia i Torakochirurgia Polska)
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.

                History
                Date received : 02 December 2018
                Date accepted : 02 December 2018
                Categories
                Subject: Review Paper

                Keywords: apical hypertrophic cardiomyopathy,sudden cardiac death,echocardiography,magnetic resonance imaging
                Data availability:
                Keywords: apical hypertrophic cardiomyopathy, sudden cardiac death, echocardiography, magnetic resonance imaging

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