Management of tandem occlusions in patients who receive rtPA

Journal of Thrombosis and Thrombolysis - Tandem occlusions exist in 17–32% of large vessel occlusion (LVO) strokes. A significant concern is bleeding when carotid stenting is performed in...     

Magnetic field interactions between current consumer electronics and cardiac implantable electronic devices

Journal of Interventional Cardiac Electrophysiology - Ablation index (AI) is a radiofrequency lesion quality marker. The AI value that allows effective and safe pulmonary vein isolation (PVI) is...     

The heart and gut relationship: a systematic review of the evaluation of the microbiome and trimethylamine-N-oxide (TMAO) in heart failure

Heart Failure Reviews - There is an expanding body of research on the bidirectional relationship of the human gut microbiome and cardiovascular disease, including heart failure (HF). Researchers...     

Extraadrenal steroid 21-hydroxylase activity in a woman with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

The 21-hydroxylation of plasma progesterone (P) has been demonstrated in pregnant, nonpregnant, and adrenalectomized women and in men. The fractional conversion of plasma progesterone to deoxycorticosterone (DOC), [rho]P-DOC BU, among those subjects was 0.009 +/- 0.001 (mean +/- SEM, n = 32). The [rho]P-DOC BU in a woman with congenital adrenal hyperplasia due to apparent adrenal steroid 21-hydroxylase deficiency was 0.010 when she was taking cortisone acetate, and the [rho]P-DOC BU determined when she was not taking cortisone acetate was 0.012. Moreover, the value computed for the fractional conversion of 17 alpha-hydroxyprogesterone to 11-deoxycortisol in this woman (0.004) was similar to that observed in a woman with normal adrenal function (0.005). Therefore, extraadrenal 21-hydroxylase activity in a woman with nonsalt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency was similar to that found in persons with normal adrenal function.     

Zeolite exposure and associated pneumoconiosis

Naturally occurring zeolite minerals are aluminum silicates widespread in the earth's crust. Several of these minerals have fibrous forms and have been implicated as a possible cause of benign and malignant diseases of the lung and pleura in Turkey. This report describes a patient, living in an area of Nevada rich in zeolites, who presented with idiopathic pleural thickening and pulmonary fibrosis associated with extensive pulmonary deposition of zeolites.     

Double Heterozygosity for Two Unstable Haemoglobins: Hb Sydney (β67[E11] Val→Ala) and Hb Coventry (β141[H19] Leu Deleted)

A 7-year-old English girl was found to have a lobar pneumonia with a marked haemolytic anaemia. Routine electrophoresis revealed no abnormal haemoglobin but, as anticipated, an unstable haemoglobin fraction readily formed in haemolysates on routine in vitro instability tests. From the subsequent structural and biosynthetic studies it was concluded that the propositus' red cells contained, in addition to Hbs A, A₂ and F, two unstable haemoglobins with abnormalities in the primary structure of their non α-chains: Hb Sydney and Hb Coventry. The first has an amino acid substitution Val→Ala at position β67 (E11), while the other, Hb Coventry, is a new variant with a non α-chain which resembles the β^A-chain except that the leucine residue at position β141(H19) is deleted. This suggests that, instead of the normal complement of two β-chain genes, the propositus' genome has three, i.e. β^A-, β^Sydney- and β^Coventry-chain genes. Evidence is presented from which it can be concluded that the non α-chain of Hb Coventry, whilst being structurally a β-chain variant is, in fact, a βδ fusion chain variant with 140β- and 5δ-chain residues. The oxygen dissociation curve of the propositus showed a reduced affinity at the upper part of the curve, a feature which she shared with a straightforward heterozygote for Hb Sydney, and a slight shift to the left in the lower part, a feature which she shared with her father who possessed Hb Coventry.     

Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations

OBJECTIVES: We sought to determine whether the development of left ventricular hypertrophy (LVH) can be demonstrated during adulthood in genetically affected relatives with hypertrophic cardiomyopathy (HCM). BACKGROUND: Hypertrophic cardiomyopathy is a heterogeneous cardiac disease caused by mutations in nine genes that encode proteins of the sarcomere. Mutations in cardiac myosin-binding protein C (MyBPC) gene have been associated with age-related penetrance. METHODS: To further analyze dormancy of LVH in patients with HCM, we studied, using echocardiography and 12-lead electrocardiography, the phenotypic expression caused by MyBPC mutations in seven genotyped pedigrees. RESULTS: Of 119 family members studied, 61 were identified with a MyBPC mutation, including 21 genetically affected relatives (34%) who did not express the HCM morphologic phenotype (by virtue of showing normal left ventricular wall thickness). Of these 21 phenotype-negative individuals, 9 were children, presumably in the prehypertrophic phase, and 12 were adults. Of the 12 adults with normal wall thickness < or = 12 mm (7 also with normal electrocardiograms), 5 subsequently underwent serial echocardiography prospectively over four to six years. Of note, three of these five adults showed development of LVH in mid-life, appearing for the first time at 33, 34 and 42 years of age, respectively, not associated with outflow obstruction or significant symptoms. CONCLUSIONS: In adults with HCM, disease-causing MyBPC mutations are not uncommonly associated with absence of LVH on echocardiogram. Delayed remodeling with the development of LVH appearing de novo in adulthood, demonstrated here for the first time in individual patients with prospectively obtained serial echocardiograms, substantiates the principle of age-related penetrance for MyBPC mutations in HCM. These observations alter prevailing perceptions regarding the HCM clinical spectrum and family screening strategies and further characterize the evolution of LVH in this disease.