Clinical relevance of the electrocardiogram in relatives of patients with hypertrophic cardiomyopathy

Eighty-nine first-degree relatives of 22 patients with an established diagnosis of hypertrophic cardiomyopathy underwent electrocardiographic and echocardiographic screening. Scalar electrocardiogram was abnormal in 30/89 (33.7%) relatives. Of these thirty, eleven had definite evidence of hypertrophic cardiomyopathy at echo; one had borderline hypertrophy and was considered neither affected nor unaffected; four had questionable signs of hypertrophy. The remaining 14 relatives had normal echo-cardiograms. Fifty-nine relatives (66.3%) had normal electrocardiograms; at echo 3 were considered to have borderline hypertrophy, 16 had questionable signs of hypertrophy and 40 were normal. In relatives of patients with hypertrophic cardiomyopathy an abnormal electrocardiogram may reflect different morphologic conditions: a real hypertrophic cardiomyopathy or a myocardial hypertrophy of uncertain significance. Furthermore, in these categories of subjects, an abnormal electrocardiogram with normal echo must be considered with caution.     

Castor oil increases intestinal formation of platelet-activating factor and acid phosphatase release in the rat.

1. When castor oil was administered by gavage to rats, the duodenum and jejunum but not ileum and colon produced large amounts (5-6 fold greater than control) of platelet activating factor (Paf). 2. Intraluminal release of acid phosphatase (AP) was also markedly increased (5-6 fold greater than control) in the duodenum and jejunum of castor oil-treated rats and there was a correlation between the elevated release of AP and intestinal hyperaemia. 3. These findings support a role for Paf as a mediator of intestinal damage induced by castor oil.     

Inhibitory action of quercetin on intestinal transit in mice

The effects of quercetin have been investigated on the gastrointestinal propulsion of charcoal meal in mice. Quercetin reduced the rate of intestinal transit and this effect was potentiated by verapamil.     

Perfusion of rat colon with sennosides, rhein and rheinanthrone. Concentration-related histamine release.

Rat colon perfused intraluminally in vitro and in vivo released histamine into the perfusates. Histamine release was increased by rhein 0.1-10 micrograms/ml and much more by rheinanthrone 0.1-10 micrograms/ml but not by sennosides A or B 1-10 micrograms/ml. The effect of rhein and rheinanthrone was reduced by tritoqualine 20 mg/kg. This raises the possibility that laxation by senna and its derivatives involves histamine formation.     

Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RyR2 gene mutation: evidence of specific morphological substrates

We report on a family with a history of sudden death and effort-induced polymorphic ventricular arrhythmias. The index case was a 17-year-old boy who died suddenly and at postmortem had evidence of fibrofatty replacement in the right ventricular free wall, consistent with arrhythmogenic right ventricular cardiomyopathy, as well as calcium phosphate deposits within the myocytes. A molecular genetics investigation carried out in the paraffin-embedded myocardium of the subject and in blood samples of family members disclosed a missense mutation in exon 3 (230C-->T; A77V) of the cardiac ryanodine receptor type 2 gene. The carriers showed effort-induced polymorphic ventricular tachycardia in the setting of normal resting electrocardiogram and trivial echocardiographic abnormalities, consistent with catecholaminergic polymorphic ventricular tachycardia. The observation of both arrhythmogenic right ventricular cardiomyopathy type 2 and catecholaminergic polymorphic ventricular tachycardia in the same family suggests that the two entities might correspond to different degrees of phenotypic expression of the same disease. This experience underscores the importance of a precise autopsy diagnosis in the case of sudden cardiac death, including molecular genetics, and the mission of pathologists to guide further clinical investigation of family members.     

Electrocardiographic diagnosis of left ventricular hypertrophy in the presence of left bundle branch block: a wasted effort

We assessed the reliability of multiple electrocardiographic variables for detecting left ventricular hypertrophy in 100 patients (aged 23 to 92 years, mean age 39 +/- 14) with complete left bundle branch block and different underlying cardiac diseases. Left ventricular hypertrophy, defined as an echocardiographically evaluated left ventricular mass greater than 241 g, was present in 66 of the 100 patients. The electrocardiographic parameters with the highest sensitivity were both the Cornell voltage criteria (RaVL + SV3 greater than 28 mm in men and greater than 20 mm in women) and the combination of criteria proposed by Kafka (any of these four indexes: RaVL greater than or equal to 11 mm, QRS axis -40 degrees or less, SV1 + RV5 or RV6 greater than or equal to 40 mm, SV2 greater than or equal to 30 mm and SV3 greater than or equal to 25 mm), with a sensitivity of 77%. Both criteria had a very low specificity (32 and 35%, respectively). The high specificities (greater than or equal to 88%) of several electrocardiographic criteria were accompanied by ineffective low sensitivities (less than 35%). Moreover, the cumulative parameters of Kafka and Cornell voltage criteria achieved a sensitivity of 84 and 89%, respectively, in hypertensive patients and in those with valvar diseases. None of the electrocardiographic indexes tested showed a significant difference in sensitivity when applied in categories of patients with left ventricular hypertrophy and different left ventricular geometry (cavity dilation or concentric hypertrophy). These data indicate that both conventional and recently proposed electrocardiographic criteria for left ventricular hypertrophy in the presence of left bundle branch block poorly recognize an augmented left ventricular mass.     

Monoclonal gammopathy and serum immunoglobulin levels as prognostic factors in chronic lymphocytic leukaemia

The relationship between chronic lymphocytic leukaemia (CLL) and qualitative/quantitative gammaglobulin abnormalities is well established. Nevertheless, in order to better understand this kind of connection, we examined 1505 patients with CLL and divided them into four subgroups on the basis of immunoglobulin (Ig) aberrations at diagnosis. A total of 73 (4·8%), 149 (10%), 200 (13·2%) and 1083 (72%) patients were identified with IgM monoclonal gammopathy (IgM/CLL), IgG monoclonal gammopathy (IgG/CLL), hypogammaglobulinaemia (hypo-γ) and normal Ig levels (γ-normal) respectively. IgM paraprotein was significantly associated with a more advanced Binet/Rai stage and del(17p)/TP53 mutation, while IgG abnormalities correlated with a higher occurrence of trisomy 12. Patients with any type of Ig abnormality had shorter treatment-free survival (TFS) but no significant impact affecting overall survival (OS) compared to those with normal Ig levels.