ABSTRACT
To determine the mode of inheritance of hypertrophic cardiomyopathy (HC), 367 relatives from 70 families with HC were studied by M-mode and 2-dimensional echocardiography (2-D echo). Inspection of individual family pedigrees suggested that HC was genetically transmitted in 39 pedigrees (56%) and probably sporadic in 31 (44%). Of the 39 pedigrees with familial occurrence, 30 had patterns of inheritance that were most consistent with autosomal dominant transmission. A complex mathematical pedigree analysis determined that patterns of genetic transmission observed in the overall study group were not consistent with known models of autosomal dominant, autosomal recessive, or X-linked inheritance and did not support a unified concept of single-gene Mendelian transmission for all families. The proportion of first-degree relatives affected by HC was 22%, with HC most common in fathers of the proband and least common in offspring. About 20% of the affected relatives (10 of 53) appeared to have inherited a "subclinical" form of HC, in which the sole evidence of HC was the morphologic expression detectable only with echocardiography. Probands and affected relatives differed distinctly with regard to the expression of HC. Probands most often showed functional limitation (81%), subaortic obstruction at rest (53%), particularly diffuse distribution of left ventricular hypertrophy (59%) and marked septal thickening (mean 23 mm). In contrast, affected relatives were characterized by absence of functional limitation (72%) and subaortic obstruction (94%), localized and unusual sites of hypertrophy (60%) and only modest septal thickening (mean 17 mm).(ABSTRACT TRUNCATED AT 250 WORDS)
Subject(s)
Cardiomyopathy, Hypertrophic/genetics , Echocardiography/methods , Cardiomyopathy, Hypertrophic/physiopathology , Chromosome Aberrations , Chromosome Disorders , Female , Hemodynamics , Humans , Male , Pedigree , PhenotypeABSTRACT
Topical administration of three different calcium channel blockers (verapamil hydrochloride, diltiazem hydrochloride, or nifedipine) increased intraocular pressure transiently in rabbits. Outflow facility and episcleral venous pressure were unchanged. Aqueous humor flow seemed to be increased 30 minutes after topical application of verapamil when estimated by the Goldmann equation or by changes in anterior chamber fluorescein-labeled dextran concentration. However, aqueous humor ascorbate concentrations and turnover of radioactive iodide did not differ from that in the untreated eye. Ocular blood volume was found to be increased after topical application of verapamil, which suggested vascular changes as a possible mechanism for the induced increase in IOP. Topical verapamil raised IOP in healthy human volunteers, but the elevation was less than observed in rabbits. Single oral doses of verapamil in rabbits or human beings had no effect on IOP.
Subject(s)
Calcium Channel Blockers/adverse effects , Intraocular Pressure/drug effects , Administration, Oral , Administration, Topical , Animals , Aqueous Humor/drug effects , Aqueous Humor/metabolism , Ascorbic Acid/metabolism , Diltiazem/administration & dosage , Diltiazem/adverse effects , Eye/blood supply , Eye/drug effects , Humans , Male , Nifedipine/administration & dosage , Nifedipine/adverse effects , Rabbits , Time Factors , Verapamil/administration & dosage , Verapamil/adverse effectsABSTRACT
A Sargon user-defined Octopus program was devised to quantitate central visual field changes following laser photocoagulation for choroidal neovascular membranes. The program was found to be reliable in testing the nine patients studied. All patients had areas of improved and areas of reduced sensitivity. The areas of reduced sensitivity were larger than the areas of improved sensitivity (P less than 0.05), with a net negative change in sensitivity found in all cases. However, the improved areas tended to be closer to fixation than the worsened areas. Quantitative static perimetry can be applied to the study of choroidal neovascular membranes. It is an important visual parameter that should be evaluated in future studies of these membranes, especially with regard to wavelength efficacy in photocoagulation therapy.
Subject(s)
Choroid/blood supply , Diagnosis, Computer-Assisted , Neovascularization, Pathologic/physiopathology , Visual Field Tests/methods , False Negative Reactions , False Positive Reactions , Fluorescein Angiography , Follow-Up Studies , Humans , Laser Therapy , Light Coagulation , Neovascularization, Pathologic/pathology , Neovascularization, Pathologic/surgeryABSTRACT
Rabbits subjected to free-floating body immersion demonstrated decreases in intraocular pressure followed by later increases. These intraocular pressure alterations were associated with parallel changes in aqueous humor production. Episcleral venous pressure was elevated during immersion but outflow facility was unaltered. The decrease in intraocular pressure could be partially blocked by pretreatment with vasopressin or desoxycorticosterone acetate. In cross-circulation studies between an immersed and non-immersed rabbit, a decrease in intraocular pressure was observed in both animals. This observation further supported the involvement of humoral factors in the body-immersion induced intraocular pressure response.