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At least 37 records · Page 2Linked to original sources
PubMed1964

THE ARTIFICIAL CARDIAC PACEMAKER. INDICATIONS FOR IMPLANTATION.

Extensive clinical experience has demonstrated that implantable cardiac pacemakers are safe and effective mechanisms for controlling symptoms and preventing the hazards of third degree heart block with Stokes-Adams syncope. Medical management of this disease does not provide reliable protection and life expectancy averages about two years after diagnosis. Hence the negligible surgical morbidity and mortality associated with pacemaker implantation justifies broad indications to implant one of the four commercially available battery-powered units. ELECTIVE IMPLANTATION OF A PACEMAKER SHOULD BE CONSIDERED IN PATIENTS WITH PERSISTENT THIRD DEGREE HEART BLOCK WHO HAVE HAD: One or more episodes of Stokes-Adams syncope; surgical injury to the conduction system, regardless of syncopal attacks; evidence of low cardiac output with cardiomegaly secondary to bradycardia. Few if any other cardiac arrythmias are satisfactorily controlled by an electrical pacemaker. Emergency pacemaker control is obviously necessary for patients developing intractable or recurrent bouts of asystole. During the interval until an implantable unit can be obtained and sterilized, the patient may be controlled by intravenous isoproterenol or by an external pacemaker attached to a transvenous catheter electrode, a precordial skin electrode or a percutaneous myocardial wire electrode.

Adams-Stokes Syndrome↗
PubMed2003

Lamin A/C truncation in dilated cardiomyopathy with conduction disease.

BACKGROUND: Mutations in the gene encoding the nuclear membrane protein lamin A/C have been associated with at least 7 distinct diseases including autosomal dominant dilated cardiomyopathy with conduction system disease, autosomal dominant and recessive Emery Dreifuss Muscular Dystrophy, limb girdle muscular dystrophy type 1B, autosomal recessive type 2 Charcot Marie Tooth, mandibuloacral dysplasia, familial partial lipodystrophy and Hutchinson-Gilford progeria. METHODS: We used mutation detection to evaluate the lamin A/C gene in a 45 year-old woman with familial dilated cardiomyopathy and conduction system disease whose family has been well characterized for this phenotype 1. RESULTS: DNA from the proband was analyzed, and a novel 2 base-pair deletion c.908_909delCT in LMNA was identified. CONCLUSIONS: Mutations in the gene encoding lamin A/C can lead to significant cardiac conduction system disease that can be successfully treated with pacemakers and/or defibrillators. Genetic screening can help assess risk for arrhythmia and need for device implantation.

Alternative Splicing↗
PubMed2006

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

Individuals with the same genetic disorder often show remarkable differences in clinical severity, a finding generally attributed to the genetic background. We identified two patients with genetically proven Emery-Dreifuss muscular dystrophy (EDMD) who followed an unusual course and had uncommon clinicopathological findings. We hypothesized digenic inheritance and looked for additional molecular explanations. Mutations in additional separate genes were identified in both patients. The first patient was a member of a family with molecularly proven X-linked EDMD. However, the clinical features were unusually severe for this condition in the propositus: he presented at 2.5 years with severe proximal weakness and markedly elevated serum creatine kinase. Muscle weakness rapidly progressed, leading to loss of independent ambulation by the age of 12. In addition, the patient developed cardiac conduction system disease requiring pacing at the age of 11 and severe dilated cardiomyopathy in the early teens. Despite pacing, he had several syncopal episodes attributed to ventricular dysrhythmias. As these resemble the cardiac features of patients with the autosomal dominant variant of EDMD, we examined the lamin A/C gene, identifying a de-novo mutation in the propositus. The second patient had a cardioskeletal myopathy, similar to his mother who had died more than 20 years previously. Because of the dominant family history, a laminopathy was suspected and a mutation in exon 11 of the LMNA gene was identified. This mutation, however, was not present in his mother, but instead, surprisingly, was identified in his virtually asymptomatic father. Unusual accumulations of desmin found in the cardiac muscle of the propositus prompted us to examine the desmin gene in this patient, and in so doing, we identified a desmin mutation, in addition to the LMNA mutation in the propositus. These cases suggest that separate mutations in related proteins that are believed to interact, or that represent different parts of a presumed functional pathway, may synergistically contribute to disease severity in autosomal dominant EDMD. Furthermore, digenic inheritance may well contribute to the clinical severity of many other neuromuscular disorders.

Adolescent↗
PubMed2005

Unexpected perinatal death and sudden infant death syndrome (SIDS): anatomopathologic and legal aspects.

This work intends to be a review of the recent histopathological findings elicited by research into sudden and unexpected perinatal death and sudden infant death syndrome (SIDS) that have dictated a novel approach to the inherent problems by pathologists, especially those entrusted with forensic medical authority. The new approach stems from the recent advances made in the understanding of neuro- and/or cardiac-conduction-system diseases present in unexpected perinatal death and SIDS. These demand that an accurate morphologic examination be performed of these structures, which modulate respiratory, cardiovascular, digestive, and arousal activities, in all victims of sudden death. A histopathologic study of an ample register of cases of victims of sudden death, either perinatally or in early infancy, has demonstrated frequent alterations both of the autonomic nervous system (especially hypoplasia of the arcuate nucleus) and of the cardiac conduction system (accessory atrioventricular pathways). The present research provides an in-depth study of the many still-controversial aspects underlying perinatal unexpected death and SIDS and is recommended for professionals working in the forensic field, whose greater insight into this problem will allow more complete medicolegal documentation.

Autonomic Nervous System↗