Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations.

Mutations in the gene encoding fukutin-related protein (FKRP) cause limb-girdle muscular dystrophy 2I (LGMD2I) and congenital muscular dystrophy (MDC1C). Cardiac involvement was frequently reported with numerous mutations including C826A and 1364C > A mutations. The original Tunisian family with LGMD2I included 12 patients sharing the LGMD phenotype and homozygous to the 1486T > A mutation but who did not display any cardiac involvement. In this study, we report the clinical data, cardiac assessment and mutation analysis in four sibs belonging to a second Tunisian LGMD2I family. All patients showed the LGMD phenotype, the oldest brother and sister had mild cardiac involvement, whereas two twin sisters displayed severe cardiomyopathy leading to death. The patients shared the compound heterozygous 1486T > A, 1364C > A mutation in the FKRP gene suggesting that the association of a compound heterozygous state of mutation responsible for LGMD2I and the MDC1C phenotype could lead to cardiac involvement.

[Inhospital prognosis of acute myocardial infarction: comparison of two periods to ten years of interval]. / Pronostic hospitalier de l'infarctus du myocarde comparaison de deux périodes a dix ans d'intervalle.

Acute myocardial infarction prognosis depends on many factors relative to the patient, to the disease and to the quality and promptness of the treatment. The interventional revascularisation is superior to pharmacological revascularisation. The aim of the study is to compare acute myocardial infarction inhospital lethality in the coronary care unit before and after use of emergency angioplasty. The retrospective study compared inhospital lethality over two four years periods separated by an interval of ten years: [1991-1994] and [2001-2004]. Lethality had increased from 7.8% to 11.3%. During the second period emergency angioplasty (under 24 hours) primary (4.8%) or rescue (2.5%), not applied in the nineties, was not related to survival and did not allow an improvement of patients' hospital prognosis. The population of the second period was characterized by: a greater average age (60.8 vs. 58.6 years), more female subjects (20.1 vs. 14.6%), less nicotinic subjects (60.2 vs. 78.5%) and less patients receiving fibrinolytic treatment (43.0 vs. 50.4%). These parameters were as many factors related to the risk of hospital death in univariate analysis. The multivariate analysis showed that after adjustment on all the other factors the lack of thrombolysis remains unquestionably related to the hospital overlethality. The time delays for admission in the intensive care unit were relatively long and comparable over the two periods (8.2 vs. 7.5 hours). Within our hospital structure early angioplasty not being able to be realized in the hour, which follows the diagnosis on a large scale, and in a continual way, it would be preferable to always consider thrombolysis first in all cases apart from contraindications without excluding the possibility of a hybrid treatment.

[Cardiac involvement in Emery-Dreifuss muscular dystrophy: a case report]. / L'atteinte cardiaque dans la dystrophie musculaire d'Emery-Dreifuss. A propos d'un cas.

Emery Dreifuss muscular dystrophy (EDMD) is an uncommon hereditary myopathy characterized by 3 symptoms: slow progressive muscular atrophy, muscular contractures and cardiac disease which affect prognosis. We report a 22 year-old patient with EDMD which shows the typical features of the associated dilated cardiomyopathy, ventricular arrhythmia, atrio-ventricular block, atrial standstill then atrial paralysis.

[Dilated cardiomyopathy and atrio-ventricular block in coeliac disease. Two case reports]. / Cardiomyopathie dilatée et bloc auriculo-ventriculaire dans la maladie coeliaque. A propos de deux observations.

We report two cases of celiac disease (CD) presented as an idiopathic dilated cardiomyopathy in association with a complete heart block in one patient, without digestive manifestation. The diagnosis of CD was obtained by both positivity of antiendomysial antibodies (AEA) and identification of the characteristic duodenal endoscopic and histological findings. Gluten-free diet improved the cardiac function in one patient but it had no effect on atrioventricular conduction in this same patient. These cases highlight the possible cardiac involvement in celiac disease and the relevance of antiendomysial and antigliadin antibodies test in case of rhythm disturbances and cardiomyopathies of unknown etiology. The effect of gluten free diet on cardiac performance was described.

[Familial hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome]. / Cardiomyopathie hypertrophique familiale associée à un syndrome de Wolff-Parkinson-White.

Familial hypertrophic cardiomyopathy (HCM) with Wolff-Parkinson-White (WPW) syndrome is extremely rare and associated with a high risk of ventricular tachyarrhythmia and sudden death. We report a familial form of hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome in two siblings 7 and 12-year-old. These patients showed progression to left ventricular dilatation. Early recognition and treatment of such forms can improve such evolution and the risk of sudden death.

[Prognosis of intraventricular septal rupture in myocardial infarct: apropos of 13 cases]. / Pronostic des ruptures septales interventriculaires dans l'infarctus du myocarde: a propos de 13 cas.

The authors report the experience about 13 cases of postinfarction ventricular septal rupture. Patients (9 men and 4 women) aged 60 to 76 years average 68 years. The site of necrosis was the anterior wall in 8 cases and the posterior wall in 5 cases. The diagnosis of septal rupture was confirmed by echocardiography and/or angiography. 6 patients died after averages: 7 days. Surgical intervention was performed in 7 cases after a mean of 51 days following the date of the myocardial infarction after an intensive care. We emphasize to demonstrate the helpful of intensive care and the role of early surgery for a good prognosis.

[Angina and myocardial ischemia related to a fistula between the anterior interventricular artery and the pulmonary artery in a 56-year-old man]. / Angor et ischémie myocardique liés à une fistule entre l'interventriculaire antérieure et l'artère pulmonaire chez un homme de 56 ans.

The authors report a case of fistula between the left anterior descending artery (LAD) and the pulmonary artery (PA), in which the only clinical expression was angina associated with electrical signs of myocardial ischaemia on exertion. In the absence of any other signs of left-right shunt related to the fistula, the initial diagnosis was that of atherosclerotic coronary artery disease, especially as this 56-year-old man presented three risk factors. Coronary angiography revealed this anomaly and corrected the diagnosis. Surgical closure of the fistula under cardiopulmonary bypass and via a pulmonary artery approach led to resolution of the angina and exertional ischaemia. Similar cases of LAD-PA fistula responsible for angina as the only clinical manifestation and discovered on coronary angiography have been rarely reported in the literature.

[Severe aneurysmal dilatation of the left atrium. Apropos of a case]. / Importante dilatation anévrysmale de l'auricule gauche. A propos d'un cas.

The authors report the case of an eleven year old child with aneurysmal dilatation of the left atrial appendage and underline the diagnostic value of Doppler echocardiography in this affectation. The two signs which led to investigation of the patient and the diagnosis of this rare congenital abnormality were bulging of the left heart border on chest X-ray and atrial fibrillation. In addition to visualising a left para-cardiac chamber communicating with the left atrium on transthoracic and transoesophageal echocardiography, colour Doppler confirmed an exchange of blood between the two chambers. This aneurysm was particularly voluminous and contained echos of spontaneous contrast, a possible source of thrombosis. Thoracic CT scan and angiocardiography did not provide any further useful information. The surgical findings confirmed the presence of a large aneurysm of the left atrial appendage and excluded partial agenesis of the pericardium, the main differential diagnosis. The aneurysm was excised under cardiopulmonary bypass, and, in particular, atrial fibrillation did not recur after surgery.