Danon disease: a novel Lamp-2 gene mutation in a family with four affected members.

This is a report of a family with four members affected with Danon disease and variable clinical presentations, including cardiomyopathy, skeletal muscle pathology, and hepatopathy. Analysis by electron microscopy of the quadriceps muscle from the proband and his brother showed abnormal mitochondria, and immunohistochemistry revealed no expression of LAMP-2 protein. This defect is due to a yet undescribed mutation located at the second nucleotide in the intron 8 of the Lamp-2 gene (c.1093+2 T>A) that generated exon 8 skipping confirmed at RNA level in the proband.

[Tropical endomyocardial fibrosis or Davies disease. A case report]. / Fibrosis endomiocárdica tropical o enfermedad de Davies. A propósito de un caso.

Endomyocardial fibrosis is a restrictive endomyocardial myocardiopathy of unclear etiology, it is an endemic disease in tropical and subtropical countries. The patients are usually young and the disease has an insidious onset and poor prognosis. Surgery may lead to clinical improvement and prolong life expectancy, although it is only a palliative treatment and does not stop disease progression. We present a case of endomyocardial fibrosis from Equatorial Guinea with severe clinical involvement and clear improvement following surgery. The current etiopathogenic hypothesis, the results obtained and the management of these cases, which are infrequent in Spain, are discussed. We also comment upon the differences with the historically related Loeffler syndrome according to one of the etiopathogenic hypotheses.

CarboMedics and Monostrut valves: clinical and hemodynamic outcomes in a randomized study.

BACKGROUND AND AIM OF THE STUDY: Our aim was to compare the CarboMedics (CM) and Monostrut (M) mechanical heart valve prostheses in the aortic position. These prostheses have been studied extensively in the past, both have well-defined characteristics, and have not been modified for many years. METHODS: This randomized, prospective study included 200 consecutive patients; 100 received the CM prosthesis and 100 the M prosthesis. Both groups were statistically similar in terms of age, aortic valve lesion, and preoperative clinical and surgical characteristics. Mean follow up was 5.58 years (range: 2 months to 11 years); total follow up was 1095 patient-years (pt-yr) (CM 5.33 years, 528 pt-yr; M 5.85 years, 567 pt-yr). RESULTS: Early mortality rates were 1% in the CM group and 3% in the M group. Late mortality rates were 7% and 9%, respectively. Mean (+/- SD) survival rates at 11 years were 80.51 +/- 7.36% for the CM group and 79.62 +/- 5.59% for the M group. There were no cases of mechanical valve failure in either group. The linearized rates of major thromboembolism were 1.03% and 0.20% per pt-yr for the CM and M groups, respectively; the rates of major bleeding-events were 0.71% and 0.61% per pt-yr, respectively. The rate of paravalvular leak was 0.35% and 0% per pt-yr in the CM and M groups, respectively. Postoperative NYHA class was I-II in 95.83% of CM patients, and in 94.37% of M patients. CONCLUSION: Clinical results with CarboMedics and Monostrut prostheses are highly satisfactory, but no superiority of one valve over the other can be identified.

[Retrospective analysis of a large number of patients over 70 years old, subject to percutaneous coronary angioplasty or to surgery]. / Análisis retrospectivo de una cohorte de pacientes mayores de 70 años sometidos a angioplastia coronaria percutánea o a cirugía.

INTRODUCTION: The number of patients of advanced age with symptomatic coronary illness that need surgical or percutaneous revascularisation is increasing. The aim of the present paper is to gain knowledge of the evolution of patients over 70 years of age subjected to myocardial revascularisation. MATERIAL AND METHODS: We compare two groups of patients, in a non-aleatory manner, subjected to angioplasty (N=65) and to surgery (N=75). The average age was 74.12 +/- 3.5 (70-85) and 71.97 +/- 1.9 (70-79) years respectively. The number of unhealthy vessels was greater in the surgical group (1.84 +/- 0.8 vs 2.65 +/- 0.8). RESULTS: The number revascularised vessels is greater and revascularisation more complete in the surgical group (1.14 +/- 0.4 vs 2.59 +/- 0.9) and (76% vs 49%). There is no difference in mortality in both groups. The functional degree during the evolution is worse for the angioplasty group and besides more antianginous medicines are used in treatment (1.92 +/- 1.2 vs 1.26 +/- 0.8) and they are subjected more frequently to a new revascularisation. CONCLUSIONS: Both the sick rate and the mortality of the procedure was similar in both groups. Both procedures are valid therapeutic alternatives and are acceptably safe with these patients. Surgery is more complete and is carried out on a group of patients with greater coronary distress. There are no differences in life expectancy amongst the patients treated with either of the techniques. During the follow-up period the functional degree of the surgical group is better and there are more patients treated with monotherapy.

Cardiac echinococcosis and systemic embolism. Report of a case.

We report the case of a 13-year-old boy who, previously in a healthy condition, was admitted to hospital with an acute ischemia of the lower half of the trunk following a slight traumatism. During the surgical operation it was noticed that the embolized material corresponded to hydatid vesicles. The patient died as a result of irreversible anaphylactic shock after the operation. The autopsy revealed the presence of a hydatid cyst in the posterior wall of the left atrium which had ruptured into the atrial cavity. The immediate exeresis of the cardiac cyst is suggested, when it is noticed that the embolized material is made up of hydatid vesicles located in the left cavities of the heart.