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Hypertrophic cardiomyopathy is the most common inherited cardiovascular disease. It is characterized by increased ventricular wall thickness and is highly complex due to its heterogeneous clinical presentation, several phenotypes, large number of associated causal mutations and broad spectrum of complications. It is caused by mutations in sarcomeric proteins, which are identified in up to 60% of cases of the disease. Clinical manifestations of Hypertrophic Cardiomyopathy include shortness of breath, chest pain, palpitations and syncope, which are related to the onset of diastolic dysfunction, left ventricular outflow tract obstruction, ischemia, atrial fibrillation and abnormal vascular responses. It is associated with an increased risk of sudden cardiac death, heart failure and thromboembolic events. In this article, we discuss the diagnostic and therapeutic aspects of this disease., (Copyright © 2017 Elsevier España, S.L.U. All rights reserved.)

Introduction and Objectives: Myocardial interstitial fibrosis, a hallmark of hypertrophic cardiomyopathy (HCM), has been proposed as an arrhythmic substrate. Fibrosis is associated with increased extracellular volume (ECV), which can be quantified by computed tomography (CT). We aimed to analyze the association between CT-determined ECV and malignant ventricular arrhythmias., Methods: A retrospective case-control observational study was conducted in HCM patients with implantable cardioverter-defibrillator, undergoing a CT-protocol with continuous iodine contrast infusion to determine equilibrium ECV. Left ventricular septal and lateral CT-determined ECV was compared between prespecified cases (malignant arrhythmia any time before CT scan) and controls (no prior malignant arrhythmias) and among ECV tertiles., Results: A total of 78 implantable cardioverter-defibrillator HCM patients were included; 24 were women, with a mean age of 52.1 ± 15.6 years. Mean ECV ± standard deviation in the septal left ventricular wall and was 29.8% ± 6.3% in cases (n = 24) vs 31.9% ± 8.5% in controls (n = 54); P = .282. Mean ECV in the lateral wall was 24.5% ± 6.8% in cases vs 28.2% ± 7.4% in controls; P = .043. On comparison of the entire population according to septal ECV tertiles, no significant differences were found in the number of patients receiving appropriate shocks. Conversely, we found a trend (P = .056) for a higher number of patients receiving appropriate shocks in the lateral ECV lowest tertile., Conclusions: Extracellular volume was not increased in implantable cardioverter-defibrillator HCM patients with malignant ventricular arrhythmias vs those without arrhythmias. Our findings do not support the use of ECV (a surrogate of diffuse fibrosis) as a predictor of arrhythmias in high-risk HCM patients., (Copyright © 2017 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.)

Hypertrophic cardiomyopathy (HCM) is characterized by the presence of an abnormal hypertrophy of the left ventricle (LV), without dilation, and in the absence of any condition or another cardiac or systemic disease capable of inducing such hypertrophy. This primary or idiopathic hypertrophy can occur with or without dynamic obstruction (induced by exercise) of the LV outflow tract, so in its natural history two fundamental aspects are highlighted: the production of symptoms by blocking the LV outflow tract and the occurrence of sudden cardiac death secondary to ventricular arrhythmias. This revision includes the work of different Iberoamerican investigators, who contributed in an important way to lay the groundwork of what we know nowadays as HCM. It also includes the main anatomopathological characteristics, from its initial description to the new perspective we have concerning the myofiber disarray as the main histopathologic feature.

Background: The magnetic resonance imaging (MRI) is an effective method to study hypertrophic cardiomyopathy (HCM)., Objective: To evaluate, using MRI, the parameters of systolic function, perfusion and myocardial viability in patients with HCM, comparing the groups with and without obstruction of the left ventricular outflow tract., Methods: Twenty-one patients with a diagnosis of HCM underwent the assessment of myocardial function, viability and perfusion under stress and at rest through MRI., Results: The ventricular segments most severely impaired by hypertrophy were those of the septal region. The obstructive group presented segmental myocardial thickening distribution similar to the non-obstructive group, but with higher means than the first group. The mean ejection fraction of the patients in the obstructive group was higher than in the non-obstructive group, whereas the means of the end systolic and diastolic volumes were lower in the obstructive group. There was a positive correlation between the ventricular segmental thickening and the late enhancement segmental mass. The stress induction resulted in an increase in the number of segments with perfusion alterations and this alteration was more evident in the obstructive group., Conclusion: The thickest ventricular segments are the septal ones. The hypertrophic regions are associated to a greater extension of late enhancement. There was a positive correlation between the areas of ventricular hypertrophy and altered myocardial perfusion and these findings were more evident in the obstructive group.

Introduction and Objectives: Severity of hypertrophic cardiomyopathy has been associated with the amount of myocardial fibrosis in autopsy studies. Cardio-vascular magnetic resonance allows, by means of the delayed contrast-enhancement technique, an in vivo detection of focal myocardial fibrosis. Our aim was to study myocardial fibrosis in patients with hypertrophic cardiomyopathy by means of contrast-enhance cardio-vascular magnetic resonance., Methods: 43 patients (30 males; mean age 47 [18] years) were studied by cardio-vascular magnetic resonance. In all patients left ventricular function and mass was analyzed. Total mass of myocardial fibrosis, as identified by delayed contrast-enhancement, was also calculated., Results: In 63% of patients some degree of myocardial delayed contrast-enhancement was observed, total mass of myocardial fibrosis ranging between 1 and 59 g (mean: 17 g). There was a positive correlation between the amount of myocardial fibrosis and the degree of hypertrophy. Maximal wall thickness was higher in patients with myocardial fibrosis (23 [7] vs 18 [4] mm, respectively, P=.04). Familial cases were also more prevalent among this group (48% vs 13%, respectively), as well as conventional clinical risk factors., Conclusions: Myocardial fibrosis as detected by contrast-enhanced cardio-vascular magnetic resonance is highly prevalent in hypertrophic cardiomyopathy patients, particularly in familial cases with severe hypertrophy and associated risk factors.

Introduction and Objectives: In patients with hypertrophic cardiomyopathy, myocardial fibrosis can be detected by late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging. We investigated the relationships between the extent of LGE, left ventricular morphology and function, and clinical characteristics., Methods: Both cine and gadolinium-enhanced magnetic resonance imaging were performed in 104 patients with hypertrophic cardiomyopathy., Results: Fifty patients (48%) showed LGE (range: 1-11 segments). The extent of LGE was positively correlated with maximum left ventricular wall thickness (r=0.53, P< .001), left ventricular mass (r=0.41, P< .001), and the number of hypokinetic segments (r=0.51, P< .001), and inversely correlated with ejection fraction (r=-0.32, P=.001), the magnitude of the subaortic gradient increase during exercise echocardiography (r=-0.26, P=.023), and age at diagnosis (r=-0.20, P=.04). Four of the five patients with an ischemic response on exercise echocardiography had > or =3 segments showing LGE (P=.003). Severe hypertrophy (i.e., > or =30 mm) and nonsustained ventricular tachycardia occurred more frequently as the number of LGE segments increased (P< .001 and P=.04, respectively)., Conclusions: Extensive LGE reflects greater disease expression. It is associated with more severe myocardial damage (i.e., a lower ejection fraction and a larger number of hypokinetic segments) and with adverse clinical characteristics (e.g., young age at diagnosis, severe hypertrophy, nonsustained ventricular tachycardia, and an ischemic response on exercise), suggesting that it may be closely linked to prognosis.

Introduction and Objectives: Few studies have investigated death due to myocardial disease in children and young adults. The aim of this study was to analyze the epidemiological, clinical, and pathologic characteristics of death in these cases., Patients and Method: Population-based observational study of all deaths in individuals aged 1-35 years in the Spanish province of Biscay over a period of 12 years., Results: Forty deaths from myocardial disease occurred in 29 males and 11 females (mean age 25.3 years): 30 sudden and 10 non-sudden deaths. The mortality rate was 0.64 per 100,000 persons-year. The relative risk of sudden death was significantly greater than that of non-sudden death, particularly in adolescents and young males. The cause of death was myocarditis in 12 cases (83.3% sudden death), dilated cardiomyopathy in 10 (80% non-sudden death), arrhythmogenic cardiomyopathy in seven, hypertrophic cardiomyopathy in six, and idiopathic concentric left ventricular hypertrophy in five (100% sudden death). Myocardial disease was diagnosed before sudden death in only three cases. Ten subjects had symptoms and electrocardiogram abnormalities but their cardiomyopathy had not been diagnosed. Six individuals had a comorbid condition (morbid obesity in four), six had prodromal symptoms, and 11 had arrhythmic triggering factors (sporting activity in seven). Ventricular fibrillation was frequently observed during cardiopulmonary resuscitation., Conclusions: Mortality due to myocardial disease in children and young adults is uncommon. Most deaths are sudden. However, some may be preventable. Preventative measures should be aimed at sudden death in adolescents and young males. There was a noticeable association between arrhythmogenic cardiomyopathy and sporting activity.

Hypertrophic cardiomyopathy is a relatively common genetic disorder with heterogeneity in mutations, forms of presentation, prognosis and treatment strategies. Hypertrophic cardiomyopathy is recognized as the most common cause of sudden cardiac death that occurs in young people, including athletes. The clinical diagnosis is complemented with the ecocardiographic study, in which an abnormal myocardial hypertrophy of the septum can be observed in the absence of a cardiac or systemic disease (arterial systemic hypertension, aortic stenosis). The annual sudden mortality rate is 1% and, in selected populations, it ranges between 3 and 6%. The therapeutic strategies depend on the different subsets of patients according to the morbidity and mortality, sudden cardiac death, obstructive symptoms, heart failure or atrial fibrillation and stroke. High risk patients for sudden death may effectively be treated with the automatic implantable cardioverter-defibrillator.

The heart is highly dependent for its function on oxidative energy generated in mitochondria, primarily by fatty acid beta-oxidation, respiratory electron chain and oxidative phosphorylation. Defects in mitochondrial structure and function have been found in association with cardiovascular diseases such as dilated and hypertrophy cardiomyopathy, cardiac conduction defects and sudden death, ischemic and alcoholic cardiomyopathy, as well as myocarditis. While a subset of these mitochondrial abnormalities have a defined genetic basis (e.g. mitochondrial DNA changes leading to oxidative phosphorylation dysfunction,fatty acid beta-oxidation defects due to specific nuclear DNA mutations), other abnormalities appear to be due to a more sporadic or environmental cardiotoxic insult or have not yet been characterized.This review focuses on abnormalities in mitochondrial bioenergetic function and mitochondrial DNA defects associated with cardiovascular diseases, their significance in cardiac pathogenesis as well as on the available diagnostic and therapeutic options. A concise background concerning mitochondrial biogenesis and bioenergetic pathways during cardiac growth,development and aging will also be provided.

Hypertrophic cardiomyopathy is characterized by a great variety of clinical manifestations and morphologic patterns. Hemodynamic classification in obstructive and nonobstructive forms may be clinically relevant since, although many patients have disabling symptoms in the absence of a pressure gradient, in the subset of patients who do have a gradient, symptom severity seems to relate its magnitude; this fact supports the use of some therapeutic approaches directed to reduce or eliminate obstruction. Nevertheless, the presence and severity of the gradient do not correlate with prognosis. On the other hand, from a morphological point of view, any classification will be limited by the great diversity of morphologic patterns, which include almost all forms of ventricular hypertrophy one could imagine, and by the possibility of significant changes in the severity and distribution of the hypertrophy during the life of the patient. In general, the degree and distribution of ventricular hypertrophy do not correlate with symptoms or prognosis. The identification of different molecular genetic abnormalities responsible for the development of hypertrophic cardiomyopathy, is expected to provide new insights in the etiology and pathogenesis of this disease, which should be considered in future classifications.

The lipomatous hypertrophy of the interatrial septum is a clinicopathological entity characterized by an accumulation of fat, not encapsulated but circumscribed in the atrial septum, over the fossa ovalis, and protruding into the right atrium; its thickness exceeding 15 mm. It is clinically associated with atrial electric abnormalities such as disorders of the atrial conduction and supraventricular arrhythmias, difficulty of the venous return and sudden death. In 1669 Lower described at the entrance to the right atrium, between the venae cavae, there is a tubercle formed by an accumulation of fat, covered over with muscular fibres that protrudes into the right atrium, which be called intervenous tubercle. The aim of this work is to find out the normal morphology of the intervenous tubercle and to find out whether or not lipomatous hypertrophy of interatrial septum is related to it in some way, because both coincides anatomically.

A 53-year-old patient was admitted to our hospital because of exertional angina and electrocardiographic changes suggesting ischemic heart disease. The echocardiogram and cardiac catheterization demonstrated apical hypertrophic cardiomyopathy with normal coronary angiogram. We review the clinical features, treatment and prognosis of this condition. We insist on the importance of clinically suspecting it in any asymptomatic patient, or with any type of cardiac symptoms, and giant negative T waves with electrocardiographic features of left ventricular hypertrophy.