CASE PRESENTATIONA 28-year-old woman was diagnosed as having obstructive hypertrophic cardiomyopathy (HCM) during a family screening 13 years ago. The patient was initially treated with atenolol and verapamil for chest pain, but after several years, she complained of increasing angina and dyspnea. Physical examination revealed a prominent apical impulse and a grade 2/6 precordial systolic murmur. The 12-lead electrocardiogram showed sinus rhythm at 79/min, PR interval of 205 milliseconds, normal QRS axis, and left ventricular (LV) hypertrophy plus associated ST-T wave changes. The echocardiogram showed a septal thickness of 19 mm (normal, Յ11 mm); LV free wall, 15 mm (normal, Ͻ11 mm); left atrium, 52 mm (normal, Ͻ40 mm); no systolic anterior motion of the mitral valve, but apposition of LV walls at the level of papillary muscles; mild mitral regurgitation; and predicted LV gradient of 85 mm Hg at rest. A cardiac magnetic resonance imaging study confirmed LV hypertrophy, most marked at the mid-LV cavity level, and an apical LV aneurysm. The pressures at cardiac catheterization were as follows: mean right atrium, 4 mm Hg; right ventricle, 36/4 mm Hg; pulmonary artery, 30/14 mm Hg; mean pulmonary arterial capillary wedge , 19 mm Hg; LV, 190/20 mm Hg; and aorta, 100/50 mm Hg. Hence, the intracavitary LV pressure gradient, measured at midcavity, was 90 mm Hg. Cardiac output was 4.7 L/min. An LV angiogram confirmed a diagnosis of midcavity obstructive HCM. Genetic studies showed that HCM in the patient's family is caused by an Met149Val mutation of a car-diac contractile protein called essential light chain of myosin.The patient received a dual chamber (DDD) pacemaker to relieve the severe midcavity LV obstruction. Her symptoms improved, and the hemodynamic indices during DDD pacing at a 5-year follow-up cardiac catheterization were as follows: mean right atrium, 2 mm Hg; right ventricle, 32/8 mm Hg; pulmonary artery, 24/12 mm Hg; mean pulmonary arterial capillary wedge , 9 mm Hg; LV, 150/10 mm Hg; and aorta, 105/50 mm Hg (LV gradient, 45 mm Hg). Cardiac output was 4.2 L/min. With the pacemaker programmed to atrial demand mode, the pressures were as follows: mean right atrium, 2 mm Hg; right ventricle, 26/6 mm Hg; pulmonary artery, 26/14 mm Hg; mean pulmonary arterial capillary wedge, 13 mm Hg; LV, 155/10 mm Hg; and aorta, 85/48 mm Hg (LV gradient, 70 mm Hg). Cardiac output was 4.3 L/min. The DDD pacing has significantly reduced this unusual form of LV obstruction without adversely affecting filling pressures or cardiac output. Prolonged pacing has also resulted in hemodynamic changes that were evident even when DDD pacing was discontinued temporarily.
DISCUSSIONSignificant advances have been made in the understanding of the pathophysiology and management of HCM in the past decade. Hypertrophic cardiomyopathy is a genetic disease with an autosomal dominant pattern of inheritance, characterized by LV wall thickening, in the absence of another cause for the increased cardiac mass. It has an estimated prevalence of 0.1% t...