Evidence for genetic heterogeneity in Carvajal syndrome.

Carvajal syndrome is a rare syndrome with woolly hair, palmoplantar keratosis and dilated cardiomyopathy. The inheritance of the mutation is autosomal recessive. As a causal gene, the desmoplakin gene (DSP) has so far been identified; it encodes an essential component of desmosomes, a cell-cell structure aimed at keeping cells attached to each other in tissues in which cells are often exposed to strong shear forces. Recently, familial cases of an autosomal dominant Carvajal syndrome were documented with a new feature: hypo/oligodontia. A mutation in the DSP gene was also evidenced in these latter cases. A patient was seen for cardiogenetic consultation at the University Hospital of Lyon with cardiac failure involving first degree atrioventricular block, complete left bundle branch block, non-compaction of the apex of the left ventricle and a dilated cardiomyopathy. A coronarography disclosed a complete thrombosis of the right coronary artery. At examination, he had also woolly hair, mild palmoplantar keratosis and missing teeth (essentially molars and premolars). His family history was uninformative. His DNA was screened for mutations in the DSP and plakoglobin genes but no mutation could be found. This case suggests that Carvajal syndrome with hypo/oligodontia is a heterogeneous condition in which genes other than DSP might be involved, although we cannot rule out a mutation in this gene consisting in a deletion of a single exon or a gene rearrangement.

[Recurrent septicaemia following incomplete removal of pacemaker leads]. / Septicémie récidivante après extraction incomplète de sondes de stimulateur cardiaque.

INTRODUCTION: Septicaemia on endocardial pacemaker leads is very rare but the presentation is insidious and the prognosis very bad if all the implanted materiel is not completely removed. OBSERVATION: A 55 year-old woman presented three episodes of Staphylococcus epidermidis septicaemia in three years, after incomplete removal of the pacing system. Permanent cure was finally obtained after complete removal of the pacemaker material. COMMENT: Emphasis must be placed on the difficulty in diagnosing and treating such affections, their severity and also the interest of a certain number of prophylactic measures.

Athlete's heart or hypertrophic cardiomyopathy: usefulness of N-terminal pro-brain natriuretic peptide.

BACKGROUND: Distinguishing physiological hypertrophy from hypertrophic cardiomyopathy in athletes remains difficult, but vital in view of the risk of sudden death under effort. NT-proBNP was previously reported to be usually normal in healthy athletes, but often elevated in case of hypertrophic cardiomyopathy. OBJECTIVES: To assess the interest of NT-proBNP in differential diagnosis of left ventricular hypertrophy in athletes. METHODS: NT-proBNP levels were measured at rest and after effort in trained athletes referred for suspectedly abnormal (>or=13 mm) left ventricular hypertrophy. RESULTS: 17 patients were included, 10 of whom were diagnosed with hypertrophic cardiomyopathy (group I) while the other 7 presented typical signs of athlete's heart (group II). NT-proBNP levels did not significantly differ between groups, whether at rest or after effort. NT-proBNP levels were, however, significantly elevated in 3 subjects in group I, while being consistently normal in group II. CONCLUSIONS: In active athletes presenting with ambiguous left ventricular hypertrophy, abnormal NT-proBNP levels indicate hypertrophic cardiomyopathy, whereas normal values are inconclusive.

150 microgram intracoronary adenosine bolus for accurate fractional flow reserve assessment of angiographically intermediate coronary stenosis.

AIMS: Fractional flow reserve measurement is based upon achieving maximum hyperemia. A 40 microg intracoronary (IC) adenosine bolus sometimes seems insufficient, and we therefore sought to assess the possible role of 100-150 microg boli in routine. METHODS AND RESULTS: 108 intermediate (49+/-16%) stenoses were consecutively studied with 6F catheters. A history of myocardial infarction in the territory of the explored artery or myocardial hypertrophy were the exclusion criteria. Mean FFR was 0.82+/-0.12 with a 40 microg adenosine bolus and decreased to 0.80+/-0.12 and 0.80+/-13 respectively with 100microg and 150 microg boli (P<0.001 vs 40microg in both cases; 100 vs 150 microg, NS). The 40 microg bolus failed to diagnose 8 out of 30 (27%) significant stenoses (i.e., final FFR <0.75). The large boli led to 12 (11%) transient asymptomatic and spontaneously resolving AV blocks without other side-effects. CONCLUSION: FFR underestimated a quarter of intermediate stenoses with the currently used 40microg IC adenosine bolus. A large bolus up to 150 microg appears to be accurate and safe for routine FFR measurement.