- Email: [email protected]
Sources of Congenital Heart-disease
1245
LEADING ARTICLES
THE LANCET --LONDON:: SATURDAY, DEC. 12,
1953
Heart-disease DEVELOPMENTS in the surgical treatment of congenital heart-disease have led to closer study of The true prevalence its prevalence and causation. is unknown, but the observation by McMAHON, McKEOWN, and RECORDthat, among nearly two hundred thousand children born in Birmingham Sources of
Congenital
between 1940 and 1949, 3-2 per 1000
were
affected
suggests that it is higher than has been supposed. Probably even this estimate is too low; for it omits patients who lived for more than eleven years without needing medical attention. Furthermore, CAMPBELL and KAUNTZEnow claim a congenital origin for some cases of aortic stenosis-a lesion still generally regarded, at least in young people, as rheumatic. Their reasons are chiefly clinical : 40 cases, 31 of which they believed to be valvular because of radiographic evidence of calcification, included 20 with characteristic signs in infancy or early childhood,
in the first three moriths of pregnancy, and similar observations have since been described repeatedly.7 There is nothing to suggest that other virus infections, such as measles and poliomyelitis, have the same effect ; possibly the reason is that these kill- the foetus. Patency of the ductus arteriosus seems to be associated with foetal distress at birth, suggesting that prolonged anoxia may play a part in its causation. The children of women who have had repeated stillbirths or miscarriages seem to be rather more apt than others to have a congenital disorder of the heart. Inherited characteristics are always difficult to prove
unless
they behave benign lesions.
as
dominants
or
produce
common
The association of heart-disease with other inherited defects, including mongolism and arachnodactyly, is well known ; and sometimes more than one member of a family has a congenital cardiac lesion. COURTER et al.found reports of 63 families in which more than one member had any of several types of lesion, but particularly atrial septal defect. CAMPBELL9 found that of 110 consecutive patients 7 had affected siblings-more than would be expected by chance. In Birmingham MCKEOWN et al.10 investigated the families of 431 cases drawn from 425 fraternities, and found 6 affected among 342 siblings born after the propositus ; this is a proportion of 18 per 1000, which is considerably greater than that in the general population. They could not estimate the likelihood of siblings having similar lesions, but on the whole thought that they tended to do so. The proportion of affected parents was probably no greater than that in the adult population. Two first-cousin marriages each produced a child with dextrocardia (thus supporting COCKAYNE’S11 view that visceral transposition is due to an inherited recessive gene) ; while one second-cousin marriage produced a child with oesophageal atresia and cor biloculare. This rather incomplete picture would perhaps be made clearer by a study of twins ; but there can be little doubt of the importance of genetic as well as of environmental factors. The prognosis for patients with congenital heart-disease is bad ; in the Birmingham series, of every 10 affected children only 3 reached the age of ten years. Surgery has improved the of these patients ; but even so the outlook chances is gloomy enough to make us want to know more about causation. or
when rheumatism is rare, and a further 17 with such signs before adolescence. In 5 of these patients there was a history of rheumatism, but only in 1 did this precede recognition of a murmur. Again, there was no evidence of mitral stenosis in any of these cases ; nor was the clinical course like that of rheumatic heart-disease. Other signs suggesting a congenital origin were poststenotic dilatation of the aorta, soft aorticdiastolic murmurs, and evidence of cardiac hypertrophy with little enlargement of the heart. Cardiac function was good, but some of At necropsy in such the patients died suddenly. cases KARSNER and KOLETSKY found inflammatory lesions ; but CAMPBELL and KAUNTZE suggest that these may be secondary and should be reassessed in the light of the clinical evidence. Almost all congenital malformations of the heart are thought to result from arrested cardiac development in the early months of intra-uterine life. Even isolated defects such as infundibular pulmonary stenosis and subaortic stenosis can be explained in this way ; and the same explanation probably holds also when the obstruction is at the level of the Antibiotic Enterocolitis valves, despite some pathological evidence for the IN this issue Dr. GARDNER reports two cases in earlier hypothesis of foetal endocarditis.4 The cause and ultimately fatal enteritis - unexwhich severe of the developmental failure is not so clear, but both pectedly and suddenly developed during the adminisabnormalities of the uterine environment and inherited of aureomycin or oxytetracycline (terramycin) tration The predisposition are known to be important. to patients whose primary illness was unrelated to the classical observations of GREGG,5who found 44 cases gastro-intestinal canal. In both cases pure and of congenital heart-disease of one kind or another abundant growths of antibiotic-resistant, coagulasein 78 children with congenital cataract following staphylococci developed in cultures from the positive maternal rubella in early pregnancy, have been and respiratory tracts ; the gram-negative intestinal amply confirmed. SWAN et al.found 21 cases among bacilli characteristic of the normal faecal flora were the children of 61 mothers who had had rubella conspicuously absent. In the U.S.A. and France 1.
2. 3. 4. 5.
6.
McMahon, B., McKcown, T., Record, R. G. 1953, 15, 121. Campbell, M., Kauntre, R. Ibid, p. 179.
Brit.
Heart J.
Karsner, H. T., Koletsky, S. Calciflc Disease of the Aortic Valve. Philadelphia, 1947. Farber, S., Hubbard, J. Amer. J. med. Sci. 1933, 186, 705. Gregg, M. M. Trans. opt. Soc. Aust. 1941, 3, 35. Swan, C., Tostevin, A. L., Moore, B., Mayo, H., Black, G. H. B. Med. J. Aust. 1943, i, 409 ; Ibid, 1943, ii, 201.
7. Albaugh, C. H. J. Amer. med. Ass. 1945, 129, 715. Record, R. G., MeKeown, T. Brit. Heart J. 1953, 15, 376. 8. Courter, S. R., Felson, B., McGuire, J. Amer, J. med. Sci. 1948, 216, 501. 9. Campbell, M. Quart. J. Med. 1949, 18, 379. 10. McKeown, T., McMahon, B., Parsons, C. G. Brit. Heart J. 1953, 15, 273. 11. Cockayne, E. A. Quart. J. Med. 1934, 7, 479.
LEADING ARTICLES
THE LANCET --LONDON:: SATURDAY, DEC. 12,
1953
Heart-disease DEVELOPMENTS in the surgical treatment of congenital heart-disease have led to closer study of The true prevalence its prevalence and causation. is unknown, but the observation by McMAHON, McKEOWN, and RECORDthat, among nearly two hundred thousand children born in Birmingham Sources of
Congenital
between 1940 and 1949, 3-2 per 1000
were
affected
suggests that it is higher than has been supposed. Probably even this estimate is too low; for it omits patients who lived for more than eleven years without needing medical attention. Furthermore, CAMPBELL and KAUNTZEnow claim a congenital origin for some cases of aortic stenosis-a lesion still generally regarded, at least in young people, as rheumatic. Their reasons are chiefly clinical : 40 cases, 31 of which they believed to be valvular because of radiographic evidence of calcification, included 20 with characteristic signs in infancy or early childhood,
in the first three moriths of pregnancy, and similar observations have since been described repeatedly.7 There is nothing to suggest that other virus infections, such as measles and poliomyelitis, have the same effect ; possibly the reason is that these kill- the foetus. Patency of the ductus arteriosus seems to be associated with foetal distress at birth, suggesting that prolonged anoxia may play a part in its causation. The children of women who have had repeated stillbirths or miscarriages seem to be rather more apt than others to have a congenital disorder of the heart. Inherited characteristics are always difficult to prove
unless
they behave benign lesions.
as
dominants
or
produce
common
The association of heart-disease with other inherited defects, including mongolism and arachnodactyly, is well known ; and sometimes more than one member of a family has a congenital cardiac lesion. COURTER et al.found reports of 63 families in which more than one member had any of several types of lesion, but particularly atrial septal defect. CAMPBELL9 found that of 110 consecutive patients 7 had affected siblings-more than would be expected by chance. In Birmingham MCKEOWN et al.10 investigated the families of 431 cases drawn from 425 fraternities, and found 6 affected among 342 siblings born after the propositus ; this is a proportion of 18 per 1000, which is considerably greater than that in the general population. They could not estimate the likelihood of siblings having similar lesions, but on the whole thought that they tended to do so. The proportion of affected parents was probably no greater than that in the adult population. Two first-cousin marriages each produced a child with dextrocardia (thus supporting COCKAYNE’S11 view that visceral transposition is due to an inherited recessive gene) ; while one second-cousin marriage produced a child with oesophageal atresia and cor biloculare. This rather incomplete picture would perhaps be made clearer by a study of twins ; but there can be little doubt of the importance of genetic as well as of environmental factors. The prognosis for patients with congenital heart-disease is bad ; in the Birmingham series, of every 10 affected children only 3 reached the age of ten years. Surgery has improved the of these patients ; but even so the outlook chances is gloomy enough to make us want to know more about causation. or
when rheumatism is rare, and a further 17 with such signs before adolescence. In 5 of these patients there was a history of rheumatism, but only in 1 did this precede recognition of a murmur. Again, there was no evidence of mitral stenosis in any of these cases ; nor was the clinical course like that of rheumatic heart-disease. Other signs suggesting a congenital origin were poststenotic dilatation of the aorta, soft aorticdiastolic murmurs, and evidence of cardiac hypertrophy with little enlargement of the heart. Cardiac function was good, but some of At necropsy in such the patients died suddenly. cases KARSNER and KOLETSKY found inflammatory lesions ; but CAMPBELL and KAUNTZE suggest that these may be secondary and should be reassessed in the light of the clinical evidence. Almost all congenital malformations of the heart are thought to result from arrested cardiac development in the early months of intra-uterine life. Even isolated defects such as infundibular pulmonary stenosis and subaortic stenosis can be explained in this way ; and the same explanation probably holds also when the obstruction is at the level of the Antibiotic Enterocolitis valves, despite some pathological evidence for the IN this issue Dr. GARDNER reports two cases in earlier hypothesis of foetal endocarditis.4 The cause and ultimately fatal enteritis - unexwhich severe of the developmental failure is not so clear, but both pectedly and suddenly developed during the adminisabnormalities of the uterine environment and inherited of aureomycin or oxytetracycline (terramycin) tration The predisposition are known to be important. to patients whose primary illness was unrelated to the classical observations of GREGG,5who found 44 cases gastro-intestinal canal. In both cases pure and of congenital heart-disease of one kind or another abundant growths of antibiotic-resistant, coagulasein 78 children with congenital cataract following staphylococci developed in cultures from the positive maternal rubella in early pregnancy, have been and respiratory tracts ; the gram-negative intestinal amply confirmed. SWAN et al.found 21 cases among bacilli characteristic of the normal faecal flora were the children of 61 mothers who had had rubella conspicuously absent. In the U.S.A. and France 1.
2. 3. 4. 5.
6.
McMahon, B., McKcown, T., Record, R. G. 1953, 15, 121. Campbell, M., Kauntre, R. Ibid, p. 179.
Brit.
Heart J.
Karsner, H. T., Koletsky, S. Calciflc Disease of the Aortic Valve. Philadelphia, 1947. Farber, S., Hubbard, J. Amer. J. med. Sci. 1933, 186, 705. Gregg, M. M. Trans. opt. Soc. Aust. 1941, 3, 35. Swan, C., Tostevin, A. L., Moore, B., Mayo, H., Black, G. H. B. Med. J. Aust. 1943, i, 409 ; Ibid, 1943, ii, 201.
7. Albaugh, C. H. J. Amer. med. Ass. 1945, 129, 715. Record, R. G., MeKeown, T. Brit. Heart J. 1953, 15, 376. 8. Courter, S. R., Felson, B., McGuire, J. Amer, J. med. Sci. 1948, 216, 501. 9. Campbell, M. Quart. J. Med. 1949, 18, 379. 10. McKeown, T., McMahon, B., Parsons, C. G. Brit. Heart J. 1953, 15, 273. 11. Cockayne, E. A. Quart. J. Med. 1934, 7, 479.