Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation.

AIMS: Mutations of the LMNA gene encoding lamin A/C induce heterogeneous phenotypes ranging from cardiopathies and myopathies to lipodystrophies. The aim of this study was to compare cardiometabolic complications in patients with heterozygous LMNA mutations at the 482nd codon, the 'hotspot' for partial lipodystrophy, with carriers of other, non-R482 LMNA mutations. METHODS AND RESULTS: This study included 29 patients with R482 LMNA mutations, 29 carriers of non-R482 LMNA mutation and 19 control subjects. Cardiac and metabolic phenotypes were compared between groups. A family history of either cardiac implantable electronic devices (CIEDs; P < 0.001) or sudden death (P < 0.01) was more frequent in non-R482 than R482 carriers. The non-R482 carriers also had more abnormalities on electrocardiography and received CIEDs more often than R482 carriers (P < 0.001). On cardiac ultrasound, non-R482 patients had greater frequencies of left atrial enlargement (P < 0.05) and lower left ventricular ejection fractions (P < 0.01) than R482 carriers. In contrast, R482 carriers had lower BMI (P < 0.05), leptin (P < 0.01) and fat mass (P < 0.001), but higher intra-/total abdominal fat-mass ratios (P < 0.001) and prevalences of diabetes (P < 0.01) and hypertriglyceridaemia (P < 0.05) than non-R482 carriers, with a trend towards more coronary artery disease. However, non-R482 carriers had higher intra-/total abdominal fat-mass ratios (P < 0.02) and prevalences of diabetes (P < 0.001) and hypertriglyceridaemia (P < 0.05) than the controls. CONCLUSION: Non-R482 carriers present more frequently with arrhythmias than R482 carriers, who twice as often have diabetes, suggesting that follow-up for laminopathies could be adjusted for genotype. Non-R482 mutations require ultra-specialized cardiac follow-up, and coronary artery disease should not be overlooked. Although overlapping phenotypes are found, LMNA mutations essentially lead to tissue-specific diseases, favouring genotype-specific pathophysiological mechanisms.

Case report. Congenital left ventricular aneurysm diagnosed by spiral CT angiography.

We report a rare case of congenital left ventricular aneurysm, diagnosed by spiral CT angiography. Despite 1 s time acquisition, spiral CT, with adequate acquisition parameters and bolus injection of contrast medium, produced sufficiently good images to permit visualization of the aneurysm. Subsequently, reconstructions (shaded surface display and multiplanar reformation) were performed to demonstrate the relationship of the aneurysm with the remainder of the left ventricle, the wide neck of the aneurysm, and the absence of contractility, therein permitting differentiation from a congenital diverticulum.

[Painful left bundle-branch block during exertion]. / Le bloc de branche gauche douloureux d'effort.

Two new cases of exercise related left-bundle branch block are reported in this study. They should be added to the twenty established and published cases. Comparison opens the way to discussion of the mechanism of onset. Ischemia is often accused, although no exploration has been able to demonstrate its responsibility in the origin of the problem. These two cases have novel features, particularly in describing the first case of painful exercise related bundle branch block in a subject twenty-three years of age. Ischemia linked to epicardial coronary lesions cannot be held responsible, but the possibility of micro-circulatory ischemia is suggested.

[Paroxysmal supraventricular tachycardia induced by deglutition]. / Tachycardie supra-ventriculaire paroxystique induite par la déglutition.

The authors report the case of a 43-year-old man with runs of tachycardia, sometimes atrial and sometimes by reentry, induced by atrial extrasystoles provoked by ewallowing. This rare condition, 21 descriptions of which are referred to, raises the problem of the inducing mechanism, with discussion of the role of mechanical stimulus played by the alimentary bolus or of a reflex of ortho- or parasympathetic origin. The discussion includes a detailed review of this condition and its treatment. The prognosis is always excellent but symptomatic discomfort may be considerable. Spontaneous recovery is possible, as in the case described here.

[Double compression of the celiac and mesenteric arteries by the arcuate ligament. An unusual cause of abdominal angina in young subjects]. / Compression coelio-mésentérique double par le ligament arqué. Une cause rare d'angor abdominal du sujet jeune.

The authors report the case of a 26 year-old woman hospitalized because of epigastric pain with onset a few years previously, occurring primarily after a heavy meal, and the recent discovery of a para-umbilical abdominal murmur with irradiation to the right iliac artery. The digital aortic angiography showed the absence of opacification of the coeliac trunk (CT) at its origin due to a very tight stenosis and a 50% narrowing of the proximal part of the superior mesenteric artery (SM). The abdominal ultrasonogram with pulsed Doppler clearly showed the very tight stenosis of the ostium of the CT and the stenosis of the S.M. Surgery confirmed the extrinsic compression of the two vessels by an aberrant fibromuscular bundle resembling an arcuate ligament. Section of this bundle completely freed the vessels. The course was favorable: the pain and murmur disappeared and there was no imprint on either vessel on the control angiography. In the discussion, the authors review the numerous atypical anatomical abnormalities which have been incriminated in the genesis of these compressions and analyze the resulting clinical syndrome. The contribution of the pulsed Doppler coupled with ultrasonography is discussed. Treatment is always surgical. This case provides an opportunity to review this exceptional entity represented by the double coeliac-mesenteric compression by the arcuate ligament. This is the first time a patient was examined by pulsed Doppler, which allows for rapid noninvasive and detailed work-up of the affection, entirely in agreement with the data obtained from the other examinations and the operative observations.