1.
Impact of ethanol dosing on the long-term outcome of alcohol septal ablation for obstructive hypertrophic cardiomyopathy: a single-center prospective, and randomized study.
Veselka, J, Duchonová, R, Páleníckova, J, Zemánek, D, Tiserová, M, Linhartová, K, Cervinka, P
Circulation journal : official journal of the Japanese Circulation Society. 2006;(12):1550-2
Abstract
BACKGROUND The impact of ethanol dose on the long-term outcome of alcohol septal ablation (ASA) for obstructive hypertrophic cardiomyopathy was investigated. METHODS AND RESULTS Fifty-four patients (age 24-82 years; 65% women) undergoing ASA were randomized into 2 groups according to the dose of injected ethanol: Group A 1-2 ml, Group B >2 ml. Clinical and echocardiographic data were obtained at baseline and during follow-up. The volume of ethanol injected was 1.50+/-0.4 and 2.60+/-0.6 ml (p<0.001) with a subsequent peak of creatine kinase-MB of 2.25+/-1.00 and 2.62+/-1.57 microkat/L (p=0.02) in Groups A and B, respectively. The median follow-up was 39 (range 6-72) months after ASA, during which 1 patient died and 1 repeat procedure was necessary in both groups of patients. Both groups had a significant and similar improvement in outflow pressure gradient, dyspnea (New York Heart Association functional class) and angina pectoris (Canadian Cardiovascular Society class) (p<0.001). There was a significant decrease in the left ventricular ejection fraction (LVEF) in Group B (81+/-7 vs 75+/-7%; p=0.002), but not in Group A (80+/-7 vs 79+/-7%; p=0.67). Thinning of the basal septum was more pronounced in Group B than in Group A (9.3+/-5.7 vs 6.6+/-3.4 mm; p=0.04). CONCLUSIONS A lower dose of ethanol injected into the target septal branch reduces both the size of necrosis and subsequent thinning of the basal septum, and preserves LVEF during long-term follow-up. Moreover, the low dose (1-2 ml) is as safe and as hemodynamically efficacious as higher doses.
2.
Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.
Woo, A, Rakowski, H, Liew, JC, Zhao, MS, Liew, CC, Parker, TG, Zeller, M, Wigle, ED, Sole, MJ
Heart (British Cardiac Society). 2003;(10):1179-85
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Abstract
OBJECTIVES To assess patients with different types of mutations of the beta myosin heavy chain (beta MHC) gene causing hypertrophic cardiomyopathy (HCM) and to determine the prognosis of patients according to the affected functional domain of beta MHC. DESIGN AND SETTING Cohort study of subjects referred to an HCM clinic at an academic hospital. PATIENTS 70 probands from the HCM clinic were screened for mutations of the beta MHC gene and 148 family members of the genotype positive probands were further assessed. The control group for the genetic studies consisted of 106 healthy subjects. MAIN OUTCOME MEASURES Direct DNA sequencing was used to screen 70 probands for mutations of the beta MHC gene. Family members underwent genotypic and detailed clinical, ECG, and echocardiographic assessments. The survival of genotype positive subjects was evaluated according to the type of functional domain affected by the missense mutation and according to phenotypic characteristics. RESULTS A mutation of the beta MHC gene was detected in 15 of 70 probands (21%). Of 148 family members studied in these 15 families, 74 were identified with a beta MHC defect. Eleven mutations were detected, including four novel mutations: Ala196Thr, Pro211Leu, Val404Leu, and Arg870Cys. Median survival was 66 years (95% confidence interval (CI) 64 to 77 years) in all affected subjects. There was a significant difference in survival between subjects according to the affected functional domain (p = 0.02). Significant independent predictors of decreased survival were the non-conservative (that is, associated with a change in the amino acid charge) missense mutations that affected the actin binding site (hazard ratio 4.4, 95% CI 1.6 to 11.8; p = 0.003) and those that affected the rod portion of beta MHC (hazard ratio 4.8, 95% CI 1.2 to 19.4; p = 0.03). No phenotypic characteristics were associated with decreased survival or cardiovascular morbidity. CONCLUSIONS The type of beta MHC functional domain affected by the missense mutation is predictive of overall prognosis in HCM.