Cardiac involveent in type 1 myotonic dystrophy.

Myotonic dystrophy is a multisystem disorder in which cardiac involvement is common, particularly in conduction tissue. Its severity and symptoms vary, and so careful monitoring is required and a permanent pacemaker may need to be implanted. The aim of the study was to evaluate cardiac alterations and to correlate them with genetic (CTG expansion) and neurological data. Of the 46 patients studied, 80.4% presented asymptomatic cardiac conduction abnormalities but only one had impaired global systolic function, despite 32.6% having changes in left ventricular segmental contractility. Left ventricular noncompaction was found in 8 patients. Patients with greater CTG expansion had more severe neurological involvement and conduction abnormalities, and those with greater neurological disability had also more significant conduction tissue involvement.

Ambulatory electrocardiographic monitoring in type 1 myotonic dystrophy.

Myotonic dystrophy is a multisystemic disease, in which cardiac involvement is the second most common cause of death. Cardiac conduction tissue involvement is the most frequent, characteristically in a variably progressive and asymptomatic form. Careful surveillance through ambulatory monitoring is therefore needed, but with unknown periodicity. Our aim was to evaluate de novo changes on Holter monitoring performed at eight-month follow-up of a previously studied group of 36 patients with the genetic diagnosis of type 1 myotonic dystrophy, and to correlate them with genetic, neurological, and electrocardiographic data and risk factors for cardiac events. We found a high prevalence and variety of changes between baseline and follow-up Holter that justified permanent pacemaker implantation in 11 patients. In eight these were not documented in previous Holter readings. On the basis of our findings, we suggest that Holter monitoring in type 1 myotonic dystrophy patients should be performed on a regular basis, at intervals not greater than six months. Predictive parameters for the occurrence of these changes were not found.

Myxoma in the right ventricular outlow tract.

We present a patient with dyspnea, cyanosis and presyncope during exercise related to intermittent obstruction of the right outflow tract by a myxoma of the right ventricle attached to the membranous interventricular septum by its pedicle. We also review the specific medical and surgical features of such tumors. Right ventricular myxomas are rare benign tumors and clinical manifestations depend mainly on size and site of attachment. They can cause obstructive events, and embolism is also possible. Both forms of clinical presentation are potentially fatal and surgical removal should be urgently scheduled. This is usually curative, although recurrences have been reported, generally when these tumors are part of the Carney complex. The best surgical approach is individualized, and transesophageal echocardiography is an important tool in the decision. In our case right atriotomy was considered the best option.

Isolated pulmonary valve endocarditis due to Pseudomonas aeruginosa.

Isolated endocarditis of the native pulmonary valve is a rare clinical condition. It usually appears in association with certain predisposing factors, particularly intravenous drug abuse, alcohol abuse, sepsis, endovascular infections or congenital heart disease. The authors describe the case of isolated pulmonary valve endocarditis due to Pseudomonas aeruginosa of possible nosocomial origin in the absence of the predisposing factors mentioned above. Native pulmonary valve infection due to Pseudomnzonas aeruginosa in the absence of predisposing factors has not been described in the literature. The authors stress the importance of diagnosing this entity as early as possible as it is associated with high mortality and is on the increase due to the growing number of invasive procedures applied to patients in the hospital environment.

Familial apical hypertrophic cardiomyopathy with aneurysmal evolution--an unusual form.

The authors present the case of a 76-year-old patient with multiple vascular risk factors, admitted with acute coronary syndrome. The initial electrocardiogram was compatible with evolving anterior wall myocardial infarction and the echocardiogram showed an image interpreted in this context as left apical pseudoaneurysm. Complementary echocardiographic findings of atypical apical hypertrophy and echocardiographic screening performed on close relatives suggested apical hypertrophic cardiomyopathy as the most likely diagnosis, later confirmed by genetic study. This unusual presentation with evolution to ventricular aneurysm is probably due to progressive left ventricular apical remodeling and an echocardiographic image similar to that described points to the diagnosis of this entity. We emphasize the rarity of this phenotypic expression of apical hypertrophic cardiomyopathy, in particular with familial association.

Constrictive pericarditis of tuberculous etiology in the HIV-positive patient: case report and review of the literature.

Pericardial inflammation secondary to Mycobacterium tuberculosis infection is a rare condition, but its incidence is increasing in parallel with human immunodeficiency virus infection. Recrudescence of various types of tuberculosis should alert the clinician to the possibility of tuberculous pericarditis. The authors present the case of a 27-year-old white male, seropositive for the human immunodeficiency virus, presenting with large volume pericardial effusion and unusual echocardiographic features, global heart failure and clinical suspicion of tuberculosis. After anti-tuberculous chemotherapy and systemic corticosteroids there was some clinical improvement but evolution to constriction. The patient underwent pericardiectomy with good results. The authors present a literature review on constrictive tuberculous pericarditis in human immunodeficiency virus seropositive and seronegative patients, discussing the role of corticosteroids and the contribution of different diagnostic tools.

Implantable cardioverter-defibrillators in hypertrophic cardiomyopathy.

BACKGROUND: Hypertrophic cardiomyopathy is a genetic disease inherited as an autosomal dominant trait associated with risk of sudden death. The majority of cases of sudden death occur in young adults with no or few symptoms, which underlines the importance of risk stratification as a basis for selecting a therapeutic strategy. Implantable cardioverter-defibrillators are indicated in patients resuscitated following cardiac arrest, and those with sustained ventricular tachycardia or two or more risk factors identified in non-invasive tests. AIM: The aim of this study was to determine the number of appropriate therapies (anti-tachycardia pacing and defibrillation) and the risk factors, or association of risk factors, that predict therapies in patients with hypertrophic cardiomyopathy and an implantable cardioverter-defibrillator. METHODS: We studied 17 consecutive patients with hypertrophic cardiomyopathy and cardioverter-defibrillators implanted between December 1992 and June 2003. The following risk factors were analyzed: 1) previous cardiac arrest or sustained ventricular tachycardia; 2) family history of sudden cardiac death; 3) high-risk genetic mutations; 4) syncope; 5) non-sustained ventricular tachycardia; 6) hypotensive response to exercise; and 7) marked left ventricular hypertrophy. Appropriate therapies were determined and the predictive value of the different sudden death risk stratification parameters was analyzed. RESULTS: During a mean follow-up of 40 +/- 29 months, 7 patients (41%) received a total of 293 appropriate therapies. Of the 9 patients with previous cardiac arrest or ventricular tachycardia, 4 received appropriate therapies. In the remaining 8 patients, with implantable cardioverter-defibrillators for primary prevention, 3 received appropriate therapies. Family history of sudden death was associated with a positive predictive value of 25% for appropriate therapies, 40% for syncope and 50% for non-sustained ventricular tachycardia. The presence of any two risk factors was associated with a positive predictive value of 33% and the presence of three factors with 100%. CONCLUSION: In this group of patients, considered to be at high risk for sudden cardiac death, a considerable percentage had ventricular tachycardias that were correctly identified and treated by the implantable cardioverter-defibrillator. The percentage of patients with appropriate therapies was slightly higher in the group who had a cardioverter-defibrillator for secondary prevention of sudden death (aborted sudden death or sustained ventricular tachycardia). In patients with an implantable cardioverter-defibrillator for primary prevention, non-sustained ventricular tachycardia was the risk factor with the highest predictive value. An association of risk factors was also predictive of arrhythmic events.