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      Phenotypic Spectrum and Clinical Characteristics of Apical Hypertrophic Cardiomyopathy: Multicenter Echo-Doppler Study

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          Objectives: The aim of this study was to define the phenotypic spectrum of apical hypertrophic cardiomyopathy (ApHCM) and clinical characteristics pertaining to identified subtypes. Methods: In 182 consecutive ApHCM patients (58.9 ± 11.2 years; 142 men) with left ventricular ejection fraction ≧50%, we measured end-diastolic wall thickness of all 16 left ventricular segments to determine patterns of hypertrophy. Echo-Doppler parameters, electrocardiography patterns, and clinical findings were analyzed. Results: ApHCM was classified into three types as pure focal (n = 81), pure diffuse (n = 70) and mixed type (n = 31) according to patterns of hypertrophy. Incidence of atrial fibrillation (5% for pure focal vs. 11% for pure diffuse vs. 23% for mixed type, p < 0.05) and left atrial volume index (30.9 ± 11.8, 35.7 ± 14.8, and 41.3 ± 15.9 ml/m<sup>2</sup>, respectively, p < 0.001) were significantly different among subtypes. Peak systolic (6.6 ± 1.0 vs. 6.3 ± 1.2 vs. 5.9 ± 1.1 cm/s, respectively, p < 0.05), diastolic (5.1 ± 1.8 vs. 5.0 ± 1.2 vs. 4.1 ± 1.3 cm/s, respectively, p < 0.05) mitral annular velocity, E/E′ (13.3 ± 4.2 vs. 13.7 ± 5.4 vs. 16.1 ± 6.1, respectively, p < 0.05) were also significantly different. Conclusions: ApHCM contains three morphologically distinct phenotypes and detailed subtyping is important in the prediction of development of atrial fibrillation, left atrial volume index and left ventricular longitudinal function.

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          Most cited references 14

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          Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings.

          To determine the accuracy of echocardiographic left ventricular (LV) dimension and mass measurements for detection and quantification of LV hypertrophy, results of blindly read antemortem echocardiograms were compared with LV mass measurements made at necropsy in 55 patients. LV mass was calculated using M-mode LV measurements by Penn and American Society of Echocardiography (ASE) conventions and cube function and volume correction formulas in 52 patients. Penn-cube LV mass correlated closely with necropsy LV mass (r = 0.92, p less than 0.001) and overestimated it by only 6%; sensitivity in 18 patients with LV hypertrophy (necropsy LV mass more than 215 g) was 100% (18 of 18 patients) and specificity was 86% (29 of 34 patients). ASE-cube LV mass correlated similarly to necropsy LV mass (r = 0.90, p less than 0.001), but systematically overestimated it (by a mean of 25%); the overestimation could be corrected by the equation: LV mass = 0.80 (ASE-cube LV mass) + 0.6 g. Use of ASE measurements in the volume correction formula systematically underestimated necropsy LV mass (by a mean of 30%). In a subset of 9 patients, 3 of whom had technically inadequate M-mode echocardiograms, 2-dimensional echocardiographic (echo) LV mass by 2 methods was also significantly related to necropsy LV mass (r = 0.68, p less than 0.05 and r = 0.82, p less than 0.01). Among other indexes of LV anatomy, only measurement of myocardial cross-sectional area was acceptably accurate for quantitation of LV mass (r = 0.80, p less than 0.001) or diagnosis of LV hypertrophy (sensitivity = 72%, specificity = 94%).(ABSTRACT TRUNCATED AT 250 WORDS)
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            Long-term outcome in patients with apical hypertrophic cardiomyopathy.

            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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              Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy.

              We investigated cardiac energetics in subjects with mutations in three different familial hypertrophic cardiomyopathy (HCM) disease genes, some of whom were nonpenetrant carriers without hypertrophy, using phosphorus-31 magnetic resonance spectroscopy. Familial hypertrophic cardiomyopathy is caused by mutations in sarcomeric protein genes. The mechanism by which these mutant proteins cause disease is uncertain. A defect of myocyte contractility had been proposed, but in vitro studies of force generation have subsequently shown opposing results in different classes of mutation. An alternative hypothesis of "energy compromise" resulting from inefficient utilization of adenosine triphosphate (ATP) has been suggested, but in vivo data in humans with genotyped HCM are lacking. The cardiac phosphocreatine (PCr) to ATP ratio was determined at rest in 31 patients harboring mutations in the genes for either beta-myosin heavy chain, cardiac troponin T, or myosin-binding protein C, and in 24 controls. Transthoracic echocardiography was used to measure left ventricular (LV) dimensions and maximal wall thickness. The PCr/ATP was reduced in the HCM subjects by 30% relative to controls (1.70 +/- 0.43 vs. 2.44 +/- 0.30; p < 0.001), and the reduction was of a similar magnitude in all three disease-gene groups. The PCr/ATP was equally reduced in subjects with (n = 24) and without (n = 7) LV hypertrophy. Our data provide evidence of a bioenergetic deficit in genotype-confirmed HCM, which is present to a similar degree in three disease-gene groups. The presence of energetic abnormalities, even in those without hypertrophy, supports a proposed link between altered cardiac energetics and development of the disease phenotype.

                Author and article information

                S. Karger AG
                April 2008
                10 October 2007
                : 110
                : 1
                : 53-61
                aYonsei University College of Medicine, bSeoul National University College of Medicine, cUlsan University College of Medicine, and dSungkyunkwan University College of Medicine, Seoul, Republic of Korea
                109407 Cardiology 2008;110:53–61
                © 2007 S. Karger AG, Basel

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                Page count
                Figures: 3, Tables: 5, References: 24, Pages: 9
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