- Email: [email protected]
Offspring of fathers with cardiovascular malformations
June,
1212
Brief
Communications
Chordoe
tendmeae
2. Diagrammatic representation of the left ventricle with portion of the anterior wall removed. Note overlap of the left ventricular papillary muscles in this projection. (Reprinted with permission from Hurst JW: The heart. New York, 1978, McGraw-Hill Book Co, Inc, p 24.)
American
Heart
1986 Journal
the anatomic structures of the heart (Fig. 2), we suggest that this hot spot represents the activity of the anterolateral papillary muscle group of the left ventricle, possibly with an additional contribution from the superimposed posteromedial papillary muscle group. In other views, these muscles do not superimpose. It is not certain what role, if any, the slant-hole collimator has in accentuating the appearance of the papillary muscles. Though not previously reported, focally increased activity in the anterolateral wall of the left ventricle is a common finding without pathologic significance. Use of isocount contour curves can be helpful in determining the focality of the activity when this is uncertain by visual analysis. Confirmation that there is decreased activity in the region of the inferior wall on a second view (70-degree LAO) will help to eliminate false positive scans. Awareness of the prevalence of papillary muscle uptake should help the nuclear cardiologist improve specificity of interpretations.
Fig.
scans due to increased papillary muscle activity, we reviewed the cardiac catheterization reports of all patients from 1978 to 1983. Nineteen patients were found to have normal coronary arteries and a thallium scan within 2 months of their cardiac catheterization. The thallium scans of these 19 patients were reviewed and scored as described above. Seven of these patients had areas of focally increased activity identified, for a prevalence of 38%. Five of the seven patient8 had thallium scintigrams that had been previously interpreted as abnormal, showing possible or definite inferior wall ischemia. On review of these scans, no other abnormalities were identifiable when the region of focal increased activity was ignored. For illustrative purposes, selected studies were displayed digitally on a cathode ray tube (CRT) screen. Contrast enhancement and isocontour lines were used to highlight the focally increased regions of interest (Fig. 1). In all cases where focally increased activity was seen, the activity was identified only in the midportion of the anterolateral wall of the left ventricle. It was seen on the immediate anterior projection, but was not identifiable on any of the delayed views. We have documented another potential source of error, namely the frequent occurrence of a focal hot spot on the anterolateral wall of the left ventricle in the anterior view of the thallium scan that can be misinterpreted as suggesting ischemia of the inferior wall or other walls of the left ventricle. The fact that only 7 of the 16 patients with papillary muscle activity had other evidence of coronary artery disease (greater than 1 mm horizontal downsloping ST depression on the exercise tolerance test or greater than 70% narrowing on coronary arteriography) emphasizes the need of not misinterpreting the finding as inferior wall ischemia. After comparing this location with
REFERENCES 1.
2.
3.
4. 5.
6.
Berman DS, Garcia EV, Maddahi J: Role of thallium-201 imaging in the diagnosisof myocardial ischemiaand infarction. In Freeman LM, Weissmann HS, editors: Nuclear medicine annual 1980. New York, 1980, Raven Press, pp l-55. Johnstone DE, Wackers FJ, Berger HJ, Hoffer PB, Kelley MJ. Gottschalk A. Zaret BL: Effect of natient oositioninp on left’ lateral thallibm-201 myocardial images. _ J Nucl &led 20:183, 1979. Mueller TM, Marcus ML, Ehrhardt JC, Chaudhuri T, Abboud FM: Limitations of thallium-201 myocardial perfusion scintigrams. Circulation 54:640, 1976. Stolzenberg J, Kaminsky J: Overlying breast as cause of false-positive thallium scans. Clin Nucl Med 3:229, 1978. Dunn RF, Wolff L, Wagner S, Botvinick EH: The inconsistent pattern of Thallium defects: A clue of the false positive perfusion scintigram. Am J Cardiol 48:224, 1981. Royal HD, Parker JA, Kolodny GM: Noncardiac, nontomographic applications of the slant-hole collimator. J Nucl Med 23:786, 1982.
Offspring of fathers with cardiovascular malformations Charlotte Ferencz, M.D., M.P.H. Buffalo, Baltimore,
IV. Y., and
Md.
Genetic counseling of adults with congenital cardiovascular malformations is as yet based on incomplete data, and little is known of the risks to the offspring of affected
From the Departments of Pediatrics and Social and Preventive Medicine, State University of New York at Buffalo; and the Departments of Epidemiology, Preventive Medicine, and Pediatrics, University of Msryland School of Medicine. Reprint requests: Charlotte Ferencz, M.D., Dept. Preventive Medicine, Room 13-015, BRB, University of Medicine, 655 W. Baltimore St., Baltimore, MD
of Epidemiology and of Maryland School 21201.
Volume 111 Number 6
Table
Brief
I. Congenital
cardiovascular
malformations,
Communications
males aged 25-29 years Men with children
Cardiac
diagnosis
*
with
*Cardiac
diagnoses
of 78 men, the proportion
with
No.
Total
No.
1 6
50 40 50
2 6 7
50 25
2 1
1 1
100 50
1 1
15 4
5 2
6 1
3 1
33 50 50
8 5 6
10 3 1
3 1 1
100 30
2 9
33 100
1 1
15 10 2
5 1 1
4 1 2
-
1 1
-
N=% children,
and the number
fathers. The need for such information justifies this report of systematic data obtained in an earlier project.‘s2 Medical and societal course was determined in a long-term, follow-up study of male children with heart disease that also gathered information on personal life factors, including marriage and children. The study was performed in 1972 and included all males from the patient files of the Divisions of Pediatric Cardiology of the Buffalo Children’s Hospital and the Meyer Memorial Hospital in Buffalo, New York, who were born in the years 1945 to 1949. Among 150 patients with childhood heart disease who were presumed to be alive, 102 were located and were interviewed personally or by mail. Of these, 78 had congenital heart disease. The cardiac diagnoses, the number of men with children, and malformations in their children are shown in the Table I. Among the men who had children, the total range of cardiac malformations was represented, which demonstrates their reproductive advantage over women in spite of severe and inoperable lesions. None of the 52 children was reported to have a cardiovascular malformation. Three babies had noncardiac malformations, but the available code sheets do not provide details; the malformation rate of 5.8% is consistent with population expectations. Recent reports in the literature3e7 on the offspring of parents with congenital ‘heart disease suggest high recurrence risks, ranging from 2.9% 3 to 16.1% 5 for mothers and 1.4% 4 to .7.3%? for fathers. These rates are greatly in excess of the average population rate of confirmed congenital heart disease of 0.4% of live-born infants.8 Czeizel et al4 compared parental reports and results of physical examination of the infants and found that parents overreported as well as under-reported cardiac abnormalities.
Children
% of
Total no. diagnosis 2
Myxomatous mitral valve Aortic valve stenosis Coarctation of the aorta Idiopathic hypertrophic subaortic stenosis Atria1 septal defect Anomalous pulmonary venous drainage Endocardial cushion defect Ventricular septal defect “Eisenmenger’s” Patent ductus arteriosus Aortic pulmonary window Pulmonic stenosis Tetralogy of Fallot Dextrocardia, cyanotic Ebstein’s malformation Endocardial fibroelastosis Total
12 13
E of children,
none of whom
Noncardiac abnormality 1
1
1
52 had a cardiovascular
3 malformation.
To achieve correct estimates of recurrence risks, precise medical data are needed, not only on live-born but also on stillborn infants. This report records a limited experience on offspring of fathers with congenital heart disease and urges further studies on reproductive outcomes in men and women. Stephanie Artis, Manuel J. Ramirez, and Lynn Bunnell worked with the author to perform the study on “The Social Fate of the Cardiac Child.” This study was supported by the New York State Department of Health, Junior Public Health Internship Program; by the United Health Foundation; by the Lakes Area Regional Medical Program; and by the Community Services Research and Development Program in Buffalo, N.Y. REFERENCES 1. Artis
2. 3.
4.
5.
6.
7.
8.
S, Ramirez MJ, Ferencz C: The social fate of the cardiac child. Cardiac Rehabilitation 4:67, 1974. Ferencz C: The quality of life of the adolescent cardiac patient. Postgrad Med 56:67, 1974. Dennis NR, Warren J: Risks of the offspring of patients with some common congenital heart defects. J Med Genet 18:8, 1981. Czeizel A, Pornoi A, Peterffy E, Tarcal E: Study of children of parents operated on for congenital cardiovascular malformations. Br Heart J 47:290, 1982. Whittemore R, Hobbins JC, Engle MA: Pregnancy and its outcome in women with and without surgical treatment of congenital heart disease. Am J Cardiol 50:641, 1982. Emanuel R, Somerville J, Inns A, Withers R: Evidence of congenital heart disease in the offspring of parents with atrioventricular defects. Br Heart J 49:144, 1983. Rose V, Gold RJM, Lindsay G, Allen M: A possible increase in the incidence of congenital heart defects among the offspring of affected parents. J Am Co11 Cardiol 6:376, 1985. Ferencz C, Rubin JD, McCarter RJ, Brenner JI, Neil1 CA, Perry LW, Hepner SI, Downing JW: Congenital heart disease: Prevalence at livebirth. Am J Epidemiol 121:31, 1985.
1212
Brief
Communications
Chordoe
tendmeae
2. Diagrammatic representation of the left ventricle with portion of the anterior wall removed. Note overlap of the left ventricular papillary muscles in this projection. (Reprinted with permission from Hurst JW: The heart. New York, 1978, McGraw-Hill Book Co, Inc, p 24.)
American
Heart
1986 Journal
the anatomic structures of the heart (Fig. 2), we suggest that this hot spot represents the activity of the anterolateral papillary muscle group of the left ventricle, possibly with an additional contribution from the superimposed posteromedial papillary muscle group. In other views, these muscles do not superimpose. It is not certain what role, if any, the slant-hole collimator has in accentuating the appearance of the papillary muscles. Though not previously reported, focally increased activity in the anterolateral wall of the left ventricle is a common finding without pathologic significance. Use of isocount contour curves can be helpful in determining the focality of the activity when this is uncertain by visual analysis. Confirmation that there is decreased activity in the region of the inferior wall on a second view (70-degree LAO) will help to eliminate false positive scans. Awareness of the prevalence of papillary muscle uptake should help the nuclear cardiologist improve specificity of interpretations.
Fig.
scans due to increased papillary muscle activity, we reviewed the cardiac catheterization reports of all patients from 1978 to 1983. Nineteen patients were found to have normal coronary arteries and a thallium scan within 2 months of their cardiac catheterization. The thallium scans of these 19 patients were reviewed and scored as described above. Seven of these patients had areas of focally increased activity identified, for a prevalence of 38%. Five of the seven patient8 had thallium scintigrams that had been previously interpreted as abnormal, showing possible or definite inferior wall ischemia. On review of these scans, no other abnormalities were identifiable when the region of focal increased activity was ignored. For illustrative purposes, selected studies were displayed digitally on a cathode ray tube (CRT) screen. Contrast enhancement and isocontour lines were used to highlight the focally increased regions of interest (Fig. 1). In all cases where focally increased activity was seen, the activity was identified only in the midportion of the anterolateral wall of the left ventricle. It was seen on the immediate anterior projection, but was not identifiable on any of the delayed views. We have documented another potential source of error, namely the frequent occurrence of a focal hot spot on the anterolateral wall of the left ventricle in the anterior view of the thallium scan that can be misinterpreted as suggesting ischemia of the inferior wall or other walls of the left ventricle. The fact that only 7 of the 16 patients with papillary muscle activity had other evidence of coronary artery disease (greater than 1 mm horizontal downsloping ST depression on the exercise tolerance test or greater than 70% narrowing on coronary arteriography) emphasizes the need of not misinterpreting the finding as inferior wall ischemia. After comparing this location with
REFERENCES 1.
2.
3.
4. 5.
6.
Berman DS, Garcia EV, Maddahi J: Role of thallium-201 imaging in the diagnosisof myocardial ischemiaand infarction. In Freeman LM, Weissmann HS, editors: Nuclear medicine annual 1980. New York, 1980, Raven Press, pp l-55. Johnstone DE, Wackers FJ, Berger HJ, Hoffer PB, Kelley MJ. Gottschalk A. Zaret BL: Effect of natient oositioninp on left’ lateral thallibm-201 myocardial images. _ J Nucl &led 20:183, 1979. Mueller TM, Marcus ML, Ehrhardt JC, Chaudhuri T, Abboud FM: Limitations of thallium-201 myocardial perfusion scintigrams. Circulation 54:640, 1976. Stolzenberg J, Kaminsky J: Overlying breast as cause of false-positive thallium scans. Clin Nucl Med 3:229, 1978. Dunn RF, Wolff L, Wagner S, Botvinick EH: The inconsistent pattern of Thallium defects: A clue of the false positive perfusion scintigram. Am J Cardiol 48:224, 1981. Royal HD, Parker JA, Kolodny GM: Noncardiac, nontomographic applications of the slant-hole collimator. J Nucl Med 23:786, 1982.
Offspring of fathers with cardiovascular malformations Charlotte Ferencz, M.D., M.P.H. Buffalo, Baltimore,
IV. Y., and
Md.
Genetic counseling of adults with congenital cardiovascular malformations is as yet based on incomplete data, and little is known of the risks to the offspring of affected
From the Departments of Pediatrics and Social and Preventive Medicine, State University of New York at Buffalo; and the Departments of Epidemiology, Preventive Medicine, and Pediatrics, University of Msryland School of Medicine. Reprint requests: Charlotte Ferencz, M.D., Dept. Preventive Medicine, Room 13-015, BRB, University of Medicine, 655 W. Baltimore St., Baltimore, MD
of Epidemiology and of Maryland School 21201.
Volume 111 Number 6
Table
Brief
I. Congenital
cardiovascular
malformations,
Communications
males aged 25-29 years Men with children
Cardiac
diagnosis
*
with
*Cardiac
diagnoses
of 78 men, the proportion
with
No.
Total
No.
1 6
50 40 50
2 6 7
50 25
2 1
1 1
100 50
1 1
15 4
5 2
6 1
3 1
33 50 50
8 5 6
10 3 1
3 1 1
100 30
2 9
33 100
1 1
15 10 2
5 1 1
4 1 2
-
1 1
-
N=% children,
and the number
fathers. The need for such information justifies this report of systematic data obtained in an earlier project.‘s2 Medical and societal course was determined in a long-term, follow-up study of male children with heart disease that also gathered information on personal life factors, including marriage and children. The study was performed in 1972 and included all males from the patient files of the Divisions of Pediatric Cardiology of the Buffalo Children’s Hospital and the Meyer Memorial Hospital in Buffalo, New York, who were born in the years 1945 to 1949. Among 150 patients with childhood heart disease who were presumed to be alive, 102 were located and were interviewed personally or by mail. Of these, 78 had congenital heart disease. The cardiac diagnoses, the number of men with children, and malformations in their children are shown in the Table I. Among the men who had children, the total range of cardiac malformations was represented, which demonstrates their reproductive advantage over women in spite of severe and inoperable lesions. None of the 52 children was reported to have a cardiovascular malformation. Three babies had noncardiac malformations, but the available code sheets do not provide details; the malformation rate of 5.8% is consistent with population expectations. Recent reports in the literature3e7 on the offspring of parents with congenital ‘heart disease suggest high recurrence risks, ranging from 2.9% 3 to 16.1% 5 for mothers and 1.4% 4 to .7.3%? for fathers. These rates are greatly in excess of the average population rate of confirmed congenital heart disease of 0.4% of live-born infants.8 Czeizel et al4 compared parental reports and results of physical examination of the infants and found that parents overreported as well as under-reported cardiac abnormalities.
Children
% of
Total no. diagnosis 2
Myxomatous mitral valve Aortic valve stenosis Coarctation of the aorta Idiopathic hypertrophic subaortic stenosis Atria1 septal defect Anomalous pulmonary venous drainage Endocardial cushion defect Ventricular septal defect “Eisenmenger’s” Patent ductus arteriosus Aortic pulmonary window Pulmonic stenosis Tetralogy of Fallot Dextrocardia, cyanotic Ebstein’s malformation Endocardial fibroelastosis Total
12 13
E of children,
none of whom
Noncardiac abnormality 1
1
1
52 had a cardiovascular
3 malformation.
To achieve correct estimates of recurrence risks, precise medical data are needed, not only on live-born but also on stillborn infants. This report records a limited experience on offspring of fathers with congenital heart disease and urges further studies on reproductive outcomes in men and women. Stephanie Artis, Manuel J. Ramirez, and Lynn Bunnell worked with the author to perform the study on “The Social Fate of the Cardiac Child.” This study was supported by the New York State Department of Health, Junior Public Health Internship Program; by the United Health Foundation; by the Lakes Area Regional Medical Program; and by the Community Services Research and Development Program in Buffalo, N.Y. REFERENCES 1. Artis
2. 3.
4.
5.
6.
7.
8.
S, Ramirez MJ, Ferencz C: The social fate of the cardiac child. Cardiac Rehabilitation 4:67, 1974. Ferencz C: The quality of life of the adolescent cardiac patient. Postgrad Med 56:67, 1974. Dennis NR, Warren J: Risks of the offspring of patients with some common congenital heart defects. J Med Genet 18:8, 1981. Czeizel A, Pornoi A, Peterffy E, Tarcal E: Study of children of parents operated on for congenital cardiovascular malformations. Br Heart J 47:290, 1982. Whittemore R, Hobbins JC, Engle MA: Pregnancy and its outcome in women with and without surgical treatment of congenital heart disease. Am J Cardiol 50:641, 1982. Emanuel R, Somerville J, Inns A, Withers R: Evidence of congenital heart disease in the offspring of parents with atrioventricular defects. Br Heart J 49:144, 1983. Rose V, Gold RJM, Lindsay G, Allen M: A possible increase in the incidence of congenital heart defects among the offspring of affected parents. J Am Co11 Cardiol 6:376, 1985. Ferencz C, Rubin JD, McCarter RJ, Brenner JI, Neil1 CA, Perry LW, Hepner SI, Downing JW: Congenital heart disease: Prevalence at livebirth. Am J Epidemiol 121:31, 1985.