Athlete's heart and hypertrophic cardiomyopathy

Long-term athletic training is associated with morphologic left ventricular (LV) remodeling, that in elite athletes may be substantial and raise differential diagnosis with structural heart disease, ie, hypertrophic cardiomyopathy (HCM). Several criteria for differential diagnosis are discussed here, including the morphologic features of LV hypertrophy in athletes (ie, the symmetric distribution of LV wall thickening, the enlarged cavity with normal shape) and normal diastolic LV filling pattern. The most definitive criterion for differential diagnosis is the response to deconditioning, which is associated with a substantial reduction in LV wall thickness (by 2–5 mm, mean 3 mm) in athlete's heart; no substantial morphologic changes occur in patients with HCM. Finally, genetic screening for DNA abnormalities, although at present limited to research-oriented genotyping of family HCM pedigrees and are not yet available for clinical purposes, in the near future may offer the most definitive diagnosis of HCM, regardless of the morphologic expression and clinical presentation of the disease.     

Amyloid heart disease mimicking hypertrophic cardiomyopathy

OBJECTIVE: To investigate the importance of transthyretin (TTR) gene mutations in explaining the phenotypic expression in patients diagnosed with hypertrophic cardiomyopathy (HCM) in northern Sweden. BACKGROUND: Hypertrophic cardiomyopathy is relatively common and often caused by mutations in sarcomeric protein genes. Mutations in the TTR gene are also common, one of which causes familial amyloid polyneuropathy (FAP), with peripheral polyneuropathy and frequently, cardiac hypertrophy. These circumstances were highlighted by the finding of an index case with amyloidosis, presenting itself as HCM. Initial rectal and fat biopsies did not show amyloid deposits. Later on, the patient was shown to carry a TTR gene mutation, and cardiac amyloidosis was confirmed by myocardial biopsy. Only then was a repeated fat biopsy positive for amyloid deposits. DESIGN: Cross-sectional study. SETTING: Cardiology tertiary referral centre. SUBJECTS: Forty-six unrelated individuals with HCM and the index case were included. Common diagnostic criteria for HCM were used. The 46 patients with HCM were previously analysed for mutations in eight sarcomeric protein genes and the TTR gene was now analysed by denaturing high-performance liquid chromatography and direct sequencing. RESULTS: One mutation in the TTR gene (Val30Met) was found in three individuals and the index case. CONCLUSIONS: Three of the 46 cases with HCM carried the Val30Met mutation, and were considered likely to have cardiac amyloidosis, like the index case. As a correct diagnosis of cardiac amyloidosis is mandatory for a potentially life-saving treatment, TTR mutation analysis should be considered in cases of HCM not explained by mutations in sarcomeric protein genes.     

Hypersensitivity myocarditis complicating hypertrophic cardiomyopathy heart

The present report describes a case of eosinophilic myocarditis complicating hypertrophic cardiomyopathy. The 47-year-old female patient, known to have hypertrophic cardiomyopathy, was admitted with biventricular failure and managed aggressively with dobutamine infusion and other drugs while being assessed for heart transplantation. On transthoracic echocardiogram, she had moderate left ventricular dysfunction with regional variability and moderate mitral regurgitation. The recipient's heart showed the features of apical hypertrophic cardiomyopathy and myocarditis with abundant eosinophils. Myocarditis is rare and eosinophilic myocarditis is rarer. It is likely that the hypersensitivity (eosinophilic) myocarditis was related to dobutamine infusion therapy. Eosinophilic myocarditis has been reported with an incidence of 2.4% to 7.2% in explanted hearts and may be related to multidrug therapy.     

Negative-pressure ventilation: is there still a role?

Negative-pressure ventilation (NPV) was the primary mode of assisted ventilation for patients with acute respiratory failure until the Copenhagen polio epidemic in the 1950s, when, because there was insufficient equipment, it was necessary to ventilate patients continually by hand via an endotracheal tube. Thereafter, positive-pressure ventilation was used routinely. Since it was also observed that patients with obstructive sleep apnoea could be treated noninvasively with positive pressure via a nasal mask, noninvasive positive-pressure ventilation (NPPV) has become the most widely used noninvasive mode of ventilation. However, NPV still has a role in the treatment of certain patients. In particular, it has been used to good effect in patients with severe respiratory acidosis or an impaired level of consciousness, patients that to date have been excluded from all prospective controlled trials of NPPV. NPV may be used in those who cannot tolerate a facial mask because of facial deformity, claustrophobia or excessive airway secretion. NPV has also been used successfully in small children, and beneficial effects on the cardiopulmonary circulation maybe a particular advantage in children undergoing complex cardiac reconstructive surgery. This review is divided into two parts: the first is concerned with the use of negative-pressure ventilation in the short term, and the second with its use in the long term.     

Familial complete heart block in hypertrophic cardiomyopathy

We report the finding of complete heart block in two siblings (brother and sister) with hypertrophic cardiomyopathy. Its relationship to the disease is discussed and the relevant literature is reviewed.     

Aging and neutrophils: there is still much to do

Human neutrophils are activated by a wide array of compounds through their receptors. This elicits their classical functions, such as chemotaxis, phagocytosis, and the production of reactive oxygen species (ROS). Upon stimulation, neutrophils also produce lipid and immune mediators and can present antigen through the major histocompatibility complex I (MHC-I). The age-related impairment of the classical functions of neutrophils is well described, but experimental evidence showing alterations in the production of mediators and antigen presentation with aging are lacking. This review highlights the role of neutrophils in age-related pathologies such as Alzheimer's disease, atherosclerosis, cancer, and autoimmune diseases. Furthermore, we discuss how aging potentially affects the production and release of mediators by human neutrophils in ways that may contribute to the development of these pathologies.     

Alcohol septal ablation for obstructive hypertrophic cardiomyopathy: ultra-low dose of alcohol (1 ml) is still effective

Echo-guided alcohol septal ablation (ASA) is an alternative treatment for highly symptomatic patients with obstructive hypertrophic cardiomyopathy (HOCM). Previous reports suggest that a low dose of alcohol (1.5–2 ml) is as effective as the classic dose (2–4 ml) used in the past. Because a larger infarct might be associated with a potential long-term risk, in this pilot study we wanted to determine whether an ultra-low dose of alcohol (1 ml) would be effective in the mid-term follow-up. Seventy patients (55 ± 13 years, range 24–81 years, septum thickness <31 mm) with a highly symptomatic HOCM receiving maximum medical therapy were enrolled. Thirty-five consecutive patients (group I) have been treated with an ultra-low alcohol dose (1.0 ± 0.1 ml) and compared with a control group II of 35 patients treated by the same medical team using the classic alcohol dose (2.5 ± 0.8 ml) in the past. At 6-month follow-up, both groups of patients improved in dyspnea (2.9 ± 0.6 vs 1.5 ± 0.5 New York Heart Association [NYHA] class for group I; P < 0.01, and 2.5 ± 0.7 vs 1.4 ± 0.4 NYHA class for group II; P < 0.01) and angina (2.1 ± 1 vs 0.6 ± 0.8 Canadian Cardiovascular Society [CCS] class for group I; P < 0.01, and 2.1 ± 0.9 vs 0.7 ± 0.7 CCS class for group II; P < 0.01). There was a significant decrease in left ventricular (LV) ejection fraction (P < 0.05), septum thickness (P < 0.01), and LV outflow gradient (P < 0.01) in both groups of patients. However, there was no significant difference with regard to the extent of symptomatic or echocardiographic changes and complications between both groups. These results suggest that the ultra-low dose of alcohol (1 ml) is still effective in the treatment of the majority of HOCM patients without extreme septum hypertrophy (<31 mm).     

Familial spontaneous complete heart block in hypertrophic cardiomyopathy

Two siblings with hypertrophic cardiomyopathy developed spontaneous complete heart block requiring permanent pacemaker implantation at similar ages (29 and 33 years). The clinical, morphological, and haemodynamic expressions of hypertrophic cardiomyopathy differed considerably in these two patients. The sister had severe functional limitation due to dyspnoea, pronounced and diffuse left ventricular hypertrophy (maximum ventricular septal thickness of 41 mm), and left ventricular outflow obstruction (peak subaortic gradient of 75 mm Hg under basal conditions). In contrast the brother was symptom free, had only modest left ventricular hypertrophy which was confined to the anterior ventricular septum (maximal thickness of 16 mm), and had no echocardiographic evidence of subaortic obstruction. These dissimilar findings in siblings with hypertrophic cardiomyopathy suggest that the predisposition to develop complete heart block was probably genetically transmitted, although it was unrelated to the phenotypic and clinical expression of the disease.     

HLA in hypertrophic cardiomyopathy and rheumatic heart disease

1. HLA antigens were determined in 30 Japanese patients with hypertrophic cardiomyopathy. Several antigens were more common in patients compared with controls, but statistically significant differences were not evidenced. In families one and two, six of seven kindred who inherited HLA-A9 and B7 had the disease. None of five kindred lacking HLA-B7 showed evidence of the disease. In families three and four, affecting family members had HLA-A2 and BW-35. Our finding suggest that the HLA system may play some role in the pathogenesis of hypertrophic cardiomyopathy with familial occurrence. 2. Twenty patients with rheumatic valvular heart disease were also studied. There was no significant difference in frequencies of HLA antigens between patients and controls.