HYPERTROPHIC CARDIOMYOPATHY: ONE MAN'S FAMILY* ROMAN W. DESANCTIS** BOSTON
The disease which now bears the name of "hypertrophic cardiomyopathy" (HCM) was first described by Teare in 1958 (1). Although I did not encounter my first case of HCM until 5 years later, I have subsequently acquired a personal series of 58 patients with this disease since joining the staff of the Massachusetts General Hospital in 1962. This report describes this group of 58 patients, summarizing relevant features of the group as a whole, and describing unusual individual cases of this peculiar and enigmatic disease. Description of the series: The series consists of 58 patients, of whom 38 were male and 20 female. A definite family history of HCM was present in 19 (33%). The ages of the patients ranged from 13 to 86 years. Thirty-three patients (57%) were less than 65 years, of whom 15 were 25 or younger when the disease was first diagnosed. Twenty-five patients (43%) were over age 65, of whom 16 were 70 years of age or older. The period of follow-up ranged from 1 to 25 years, averaging 13 years. As determined either by cardiac ultrasound or left ventricular angiography, the site of the abnormal hypertrophy was the interventricular septum in 41; hypertrophy was concentric in 13, apical in 3, and midventricular in 1. Symptoms: Thirty-four patients (59%) were symptomatic at some time during the course of the disease, while 24 (41%) remained asymptomatic. Symptoms consisted of angina in 22 (38%), syncope in 9 (14%); palpitations in 16 (28%); and congestive heart failure in 16 (28%). Physical findings: A fourth heart sound was noted in 54 patients. Thirty-six had a systolic murmur, of whom 32 demonstrated an increase in the intensity of the murmur with a Valsalva maneuver. Electrocardiographic patterns: Fifty-six patients showed left ventricular hypertrophy, which was usually marked. Although left ventricular hypertrophy is considered virtually a sine qua non for this disease, two patients with well-documented hypertrophic cardiomyopathy did not have left ventricular hypertrophy. Left atrial enlargement was noted in 40 patients. * From the Department of Medicine (Cardiac Unit, Massachusetts General Hospital and Harvard Medical School. ** Address for Reprints: Roman W. DeSanctis, M.D., 15 Parkman Street, Suite 467, Boston, MA 02114.
32
33
HYPERTROPHIC CARDIOMYOPATHY
Fifteen patients (25%) had an electrocardiogram mimicking myocardial infarction. On occasion, this preceded other evidence of the disease. Figure 1 shows the electrocardiogram of a youth who experienced a syncopal episode-probably vasovagal in origin-in 1967 at the age of 17. He had no abnormal findings on his examination, and a cardiac catheterization study was entirely normal. Over the intervening 23 years, he has developed classical clinical and echocardiographic findings of HCM. In one patient, the reverse occurred. The patient presented with recurrent ventricular tachycardia at the age of 45. He had experienced no prior symptoms. His electrocardiogram showed what appeared to be an old anterior wall infarct (Figure 2A). At cardiac catheterization, he proved to have hypertrophic cardiomyopathy with mid-ventricular obstruction and normal coronary arteries (Figures 3A and B). Subsequently, an electrocardiogram taken 12 years earlier was found, and it showed marked left ventricular hypertrophy (Figure 2B). The development of myocardial infarction in the absence of large vessel coronary artery disease has been reported in HCM (2). Cardiac catheterization findings: Twenty-seven patients underwent cardiac catheterization. A fixed gradient of between 15 and 75 mmHg across the left ventricular outflow tract was present in 12, in all of whom a still higher gradient could be provoked by maneuvers such as a Valsalva maneuver, or induced ventricular premature beats; seven patients had only an inducible gradient, and 8 had no gradient at all. Six patients had concomitant coronary artery disease.
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FIG. 1. Electrocardiogram of an asymptomatic 17-year old youth who experienced a vasovagal syncopal episode. Note the prominent Q-waves in leads 2, 3, AVF, and V5 and V6. This electrocardiogram long antedated any clinical evidence of hypertrophic cardiomyopathy. (Reproduced by permission from O'Gara, P. T., and DeSanctis, R. W., "Hypertrophic Cardiomyopathy," in Eagle, K. A., Haber, E., DeSanctis, R. W., and Austen, W. G., The Practice of Cardiology. Boston; Little, Brown and Company: 1989: 963.
34
ROMAN W. DESANCTIS
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V4 V6 V3 V2 FIG. 2. (A). Electrocardiogram of a 41-year old man who presented with recurrent ventricular tachycardia. The electrocardiogram suggests an old anterior myocardial infarction. (B). An electrocardiogram taken 12 years earlier was subsequently obtained, showing marked left ventricular hypertrophy and strain. Angiography showed normal coronary arteries. (Reproduced by permission from O'Gara, P. T., and DeSanctis, R. W., "Hypertrophic Cardiomyopathy," in Eagle, K. A., Haber, E., DeSanctis, R. W., and Austen, W. G., The Practice of Cardiology. Boston; Little, Brown and Company: 1989: 964.
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Fi.. 3. Left ventricular angiogram of the patient whose electrocardiograms are shown in Figure 2. (A), diastole; and (B), systole. Note the mid-ventricular systolic obstruction.
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36
ROMAN W. DESANCTIS
Echocardiographic features: Echocardiograms were performed in 39 patients. Thirty-six of these 39 patients had asymmetric hypertrophy of the interventricular septum; three had concentric hypertrophy. Systolic anterior movement of the mitral valve was present in 19. Serial echocardiograms were performed in 18 patients with an average of 5 years between successive studies. Four of the 18 showed clear-cut progressive hypertrophy, 2 under and 2 over the age of 25. Treatment: Beta-adrenergic blocking drugs were used in 33 patients, and calcium channel blocking drugs in 22. In general, these medications were highly effective in relieving symptoms, especially angina. Surgery was performed in 9 patients, and consisted of a septal myotomy-myectomy in all cases. Four had simultaneous coronary bypass, and one required replacement of the mitral valve. There was 1 operative death early in our surgical experience with this disease; there was 1 late death 12 years after surgery. All 7 remaining patients are improved after operation, with the longest follow-up period being 24 years. Survival: Forty-five of these patients have survived, and there have been 13 deaths. This calculates to a mortality of 1.7% per year of followup. Of the 13 deaths, 6 were sudden; 4 died of congestive heart failure; there were 2 non-cardiac deaths, and 1 died of a cerebral embolus. Five sudden cardiac deaths occurred in the 15 patients who were under age 25 when the diagnosis was first made, contrasted with 1 among 43 patients older than 25. This is a highly significant difference (p =
The disease which now bears the name of "hypertrophic cardiomyopathy" (HCM) was first described by Teare in 1958 (1). Although I did not encounter my first case of HCM until 5 years later, I have subsequently acquired a personal series of 58 patients with this disease since joining the staff of the Massachusetts General Hospital in 1962. This report describes this group of 58 patients, summarizing relevant features of the group as a whole, and describing unusual individual cases of this peculiar and enigmatic disease. Description of the series: The series consists of 58 patients, of whom 38 were male and 20 female. A definite family history of HCM was present in 19 (33%). The ages of the patients ranged from 13 to 86 years. Thirty-three patients (57%) were less than 65 years, of whom 15 were 25 or younger when the disease was first diagnosed. Twenty-five patients (43%) were over age 65, of whom 16 were 70 years of age or older. The period of follow-up ranged from 1 to 25 years, averaging 13 years. As determined either by cardiac ultrasound or left ventricular angiography, the site of the abnormal hypertrophy was the interventricular septum in 41; hypertrophy was concentric in 13, apical in 3, and midventricular in 1. Symptoms: Thirty-four patients (59%) were symptomatic at some time during the course of the disease, while 24 (41%) remained asymptomatic. Symptoms consisted of angina in 22 (38%), syncope in 9 (14%); palpitations in 16 (28%); and congestive heart failure in 16 (28%). Physical findings: A fourth heart sound was noted in 54 patients. Thirty-six had a systolic murmur, of whom 32 demonstrated an increase in the intensity of the murmur with a Valsalva maneuver. Electrocardiographic patterns: Fifty-six patients showed left ventricular hypertrophy, which was usually marked. Although left ventricular hypertrophy is considered virtually a sine qua non for this disease, two patients with well-documented hypertrophic cardiomyopathy did not have left ventricular hypertrophy. Left atrial enlargement was noted in 40 patients. * From the Department of Medicine (Cardiac Unit, Massachusetts General Hospital and Harvard Medical School. ** Address for Reprints: Roman W. DeSanctis, M.D., 15 Parkman Street, Suite 467, Boston, MA 02114.
32
33
HYPERTROPHIC CARDIOMYOPATHY
Fifteen patients (25%) had an electrocardiogram mimicking myocardial infarction. On occasion, this preceded other evidence of the disease. Figure 1 shows the electrocardiogram of a youth who experienced a syncopal episode-probably vasovagal in origin-in 1967 at the age of 17. He had no abnormal findings on his examination, and a cardiac catheterization study was entirely normal. Over the intervening 23 years, he has developed classical clinical and echocardiographic findings of HCM. In one patient, the reverse occurred. The patient presented with recurrent ventricular tachycardia at the age of 45. He had experienced no prior symptoms. His electrocardiogram showed what appeared to be an old anterior wall infarct (Figure 2A). At cardiac catheterization, he proved to have hypertrophic cardiomyopathy with mid-ventricular obstruction and normal coronary arteries (Figures 3A and B). Subsequently, an electrocardiogram taken 12 years earlier was found, and it showed marked left ventricular hypertrophy (Figure 2B). The development of myocardial infarction in the absence of large vessel coronary artery disease has been reported in HCM (2). Cardiac catheterization findings: Twenty-seven patients underwent cardiac catheterization. A fixed gradient of between 15 and 75 mmHg across the left ventricular outflow tract was present in 12, in all of whom a still higher gradient could be provoked by maneuvers such as a Valsalva maneuver, or induced ventricular premature beats; seven patients had only an inducible gradient, and 8 had no gradient at all. Six patients had concomitant coronary artery disease.
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FIG. 1. Electrocardiogram of an asymptomatic 17-year old youth who experienced a vasovagal syncopal episode. Note the prominent Q-waves in leads 2, 3, AVF, and V5 and V6. This electrocardiogram long antedated any clinical evidence of hypertrophic cardiomyopathy. (Reproduced by permission from O'Gara, P. T., and DeSanctis, R. W., "Hypertrophic Cardiomyopathy," in Eagle, K. A., Haber, E., DeSanctis, R. W., and Austen, W. G., The Practice of Cardiology. Boston; Little, Brown and Company: 1989: 963.
34
ROMAN W. DESANCTIS
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V4 V6 V3 V2 FIG. 2. (A). Electrocardiogram of a 41-year old man who presented with recurrent ventricular tachycardia. The electrocardiogram suggests an old anterior myocardial infarction. (B). An electrocardiogram taken 12 years earlier was subsequently obtained, showing marked left ventricular hypertrophy and strain. Angiography showed normal coronary arteries. (Reproduced by permission from O'Gara, P. T., and DeSanctis, R. W., "Hypertrophic Cardiomyopathy," in Eagle, K. A., Haber, E., DeSanctis, R. W., and Austen, W. G., The Practice of Cardiology. Boston; Little, Brown and Company: 1989: 964.
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Fi.. 3. Left ventricular angiogram of the patient whose electrocardiograms are shown in Figure 2. (A), diastole; and (B), systole. Note the mid-ventricular systolic obstruction.
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36
ROMAN W. DESANCTIS
Echocardiographic features: Echocardiograms were performed in 39 patients. Thirty-six of these 39 patients had asymmetric hypertrophy of the interventricular septum; three had concentric hypertrophy. Systolic anterior movement of the mitral valve was present in 19. Serial echocardiograms were performed in 18 patients with an average of 5 years between successive studies. Four of the 18 showed clear-cut progressive hypertrophy, 2 under and 2 over the age of 25. Treatment: Beta-adrenergic blocking drugs were used in 33 patients, and calcium channel blocking drugs in 22. In general, these medications were highly effective in relieving symptoms, especially angina. Surgery was performed in 9 patients, and consisted of a septal myotomy-myectomy in all cases. Four had simultaneous coronary bypass, and one required replacement of the mitral valve. There was 1 operative death early in our surgical experience with this disease; there was 1 late death 12 years after surgery. All 7 remaining patients are improved after operation, with the longest follow-up period being 24 years. Survival: Forty-five of these patients have survived, and there have been 13 deaths. This calculates to a mortality of 1.7% per year of followup. Of the 13 deaths, 6 were sudden; 4 died of congestive heart failure; there were 2 non-cardiac deaths, and 1 died of a cerebral embolus. Five sudden cardiac deaths occurred in the 15 patients who were under age 25 when the diagnosis was first made, contrasted with 1 among 43 patients older than 25. This is a highly significant difference (p =
