ase Presentation: A 42-yearold woman was referred to the Hypertrophic Cardiomyopathy Clinic. A diagnosis of apical hypertrophic cardiomyopathy had been given 16 years earlier on the basis of echocardiographic findings. Left ventricular systolic function was reportedly at the lower limit of normal 5 years earlier.The patient gave a 6-month history of mild dyspnea occurring during exertion. Although still active, her exercise tolerance had decreased. She also complained of more frequent and sustained episodes of rapid palpitations associated with shortness of breath. She had occasional episodes of heavy, burning discomfort in the chest during activity and while at rest.There was no family history of cardiomyopathy, although first degree relatives had not been screened. Her heart rate was 74. Blood pressure was 110/ 70. Jugular venous pressure was normal. Carotid pulse volume and contour were normal. The first and second heart sounds were normal. There was a presystolic apical impulse and a prominent S4 gallop. There was no S3 gallop. A grade III/VI, harsh, midsystolic murmur was heard best at the upper left sternal border. There was no diastolic murmur.The ECG showed sinus rhythm, normal QRS duration, and left ventricular hypertrophy with repolarization changes. An echocardiogram demonstrated marked thickening and heavy trabeculation of the apical half of the left ventricle. Color Doppler displayed flow within the deep intertrabecular recesses. The left ventricle was not dilated. There was diffuse left ventricular hypokinesis with an ejection fraction of 20% to 25%. The right ventricle appeared to be more heavily trabeculated than usual. No additional abnormalities were present. The findings were consistent with isolated noncompaction of the ventricular myocardium.
Congenital pulmonary valve disease is often not discovered until adolescence or adulthood. Transthoracic two-dimensional echocardiography can provide detailed information regarding right ventricular outflow anatomy, although images are often less satisfactory than those obtained in infants and children. The more recent addition of biplanar transesophageal echocardiography has enhanced our ability to image the right ventricular outflow tract, pulmonary valve, and pulmonary artery noninvasively. Pulsed and continuous-wave Doppler estimates of subvalvular and transvalvular gradients have proved to be accurate. Doppler color flow mapping has proved useful in determining the location and direction of stenotic and regurgitant flow. With no accepted standard for comparison, quantification of regurgitation remains problematic. In many cases, echocardiography has replaced catheterization and angiography in the evaluation and long-term follow-up of congenital pulmonary valve disease before and after intervention.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.