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(Circulation. 1996;93:1483-1484.)
© 1996 American Heart Association, Inc.

Articles

Uhl's Anomaly Revisited

Henry S.M. Uhl, MD

Correspondence to Henry S.M. Uhl, MD, 2800 Monticello Dr, Winston-Salem, NC 27106.

Key Words: Editorials • heart diseases • heart block • myocardium

	Introduction

Top Introduction References

 
The Clinicopathological Conference presented by James and colleagues¹ in this issue of Circulation is of special interest because the fate of my own patient, like this one, followed a brief clinical course and death. In this case, however, a specific explanation is proposed and the suggested process (apoptosis) is abundantly illustrated. The possibility that this may explain other examples of Uhl's anomaly and the related condition of arrhythmogenic right ventricular dysplasia is logical but must await verification in future cases.

Nearly half a century has gone by since I carried out the autopsy of an 8-month-old infant in 1949.² This was a time of extraordinary development of surgery for congenital heart disease at the Johns Hopkins Medical Center under the leadership of Dr Helen Taussig and Dr Alfred Blalock. As a result of this work and that of other university medical centers, many infants, children, and adults were able to live with alleviation of symptoms—but not with a cure. And that is an irony or paradox of our society as this extraordinary century of medical progress comes to an end.

Dr Lewis Thomas³ has pointed out that there are some 25 major afflictions of humans in our society, leading him to state that there is an unfinished agenda for modern biomedical science. The record in this century "has established two general principles about human disease. First, it is necessary to know a great deal about underlying mechanisms before one can really act effectively. Second, for every disease there is a single key mechanism that dominates all others." Thomas goes on to look at the future. "We need science, more and better science, not for its technology ... but for the hope of wisdom which our kind of culture must acquire for its survival."

Dr Harold N. Segall presented a paper at the Inter-American Congress of Cardiology in June 1948 describing Osler's parchment heart. This paper was published in 1950 in the American Heart Journal.⁴ However, Osler had not provided clinical information about this patient when the heart was turned over to the museum in Montreal. It was surmised that the patient had died in his 40s or 50s. Microscopically there was myocardial muscle in all the chambers, even though the walls of both auricles and ventricles were of "parchment-like thinness."

By coincidence, two articles were published in 1952 describing an infant and an adult, respectively, both with virtually complete loss of myocardium in the right ventricle. In the adult, there was no myocardium in the wall of the right auricle. The adult patient had been presented at the Massachusetts General Hospital clinicopathological conference, published in the New England Journal of Medicine by Castleman and Towne.⁵ In both cases, there was no evidence in the microscopic analysis that either patient had experienced myocardial destruction caused by coronary artery occlusion or inflammation from myocarditis.

Since 1952, many cases have been described in the world literature with the eponym of Uhl's anomaly, and this basic anomaly may be combined with other pathological conditions in the heart. There are similarities between this case and my own: the sharp demarcation between normal left ventricular myocardium and the abnormal myocardium of the right ventricle, the limitation of the abnormality to the right ventricle itself, the absence of any significant degree of associated inflammation, and the similar absence of any infiltrative process. The suggestion that the intractable nature of the right ventricular failure was due to destruction of the crista supraventricularis (and thereby loss of effective integration of left and right ventricular systolic function) merits special consideration and future investigation. How the complete heart block can be directly tied to the right ventricular destruction remains a puzzle, although coexistence of these two has been reported by others. However, over these four decades there has been no explanation for the loss of the myocardium in the human heart, either in infants, children, or adults. Castleman and Towne⁵ offered no diagnosis except ectasia of the right ventricle and right auricle. My case was attributed to a congenital anomaly that occurred in the early development of the human embryo, caused by destruction of the right cardiogenic fold.

Although the absence of the myocardium in the right ventricle was attributed to a failure of the right cardiogenic fold to develop (this opinion was that of Dr George L. Streeter and was accepted by Dr Arnold R. Rich),² subsequent studies of the embryology of the human heart have documented that the right ventricle does not have its origin in a single cardiogenic fold but rather is created through phased embryological processes. Rosenquist and deHaan, who were involved in research into embryological development of the heart at Johns Hopkins and at the Carnegie Institution of Washington, Department of Embryology, in Baltimore, Md, concluded that it would not be possible for the congenital anomaly to develop as speculated by Dr Streeter (unpublished data, 1969). It was their opinion that the destruction or loss of the myocardium of the right ventricle would have had to occur after the heart had been fully developed (personal communication).

In addition to the individual cases that have been reported during four decades, this anomaly has been described in identical twins,⁶ in a familial pattern,⁷ and in the elderly.⁸ Furthermore, it has been described in the mink.⁹ This animal was autopsied, after an unexpected death at the age of 2 years, by the staff of the research project for which the minks had been bred. It is clear that this anomaly may be universal in humans. Its cause must be related to biological factors common to humans and perhaps all mammals.

Most of these patients reported in the literature have died, and the diagnosis was confirmed at autopsy. However, in the 1970s and 1980s, the development of echocardiography, angiocardiography, and electrocardiography enhanced the possibility of a clinical diagnosis. Even though the cases have always been rare and random in occurrence, it was inevitable that surgical correction would be attempted. In virtually all of these cases, the patient has not survived.¹⁰

Although this anomaly has been reported in the medical scientific literature for four decades, there has been no reasonable explanation of how it occurs. I am now inclined to believe that the lack of myocardium in the right ventricle of the patient I studied could not have been the result of a congenital developmental failure in the human embryo in its early stages. That the myocardium of the right ventricle was obliterated by apoptosis is a reasonable hypothesis, made possible by recent developments in cellular and molecular biology. This advancement in "more and better science" applied to one of the unsolved mysteries of human heart disease by a uniquely qualified biomedical scientist reflects confirmation of Lewis Thomas's two general principles and his proposed solution through the work of science.

	Footnotes

 
The opinions expressed in this editorial are not necessarily those of the editors or of the American Heart Association.

	References

Top Introduction References

 

1. James TN, Nichols MM, Sapire DW, DiPatre PL, Lopez SM. Complete heart block and fatal right ventricular failure in an infant. Circulation. 1996;93:1588-1600. [Free Full Text]
   
2. Uhl HSM. A previously undescribed congenital formation of the heart: almost total absence of the myocardium of the right ventricle. Bull Johns Hopkins Hosp. 1952;91:197-205. [Medline] [Order article via Infotrieve]
   
3. Thomas L. Biomedical science and human health: the long-range prospect. Daedalus (J Am Acad Arts Sci). 1977;106:163-171.
   
4. Segall HN. Parchment heart (Osler). Am Heart J. 1950;40:948-950. [Medline] [Order article via Infotrieve]
   
5. Castleman B, Towne VW. Clinico-pathological conference case presentation: cardiac dilatation of right heart, extreme, with mural thrombi, right auricle and ventricle. N Engl J Med. 1952;246:781-790.
   
6. Hoback J, Adcoff A, From AHL, Smith M, Shafer R, Chestor E. A report of Uhl's disease in identical twins: evaluation of right ventricular dysfunction with echocardiography and nuclear angiography. Chest. 1981;79:306-310. [Abstract/Free Full Text]
   
7. Digglemann U, Baur HR. Familial Uhl's anomaly in the adult. Am J Cardiol. 1984;53:1402-1403. [Medline] [Order article via Infotrieve]
   
8. Obma R, Perry LW, Scott LP. Uhl's anomaly of the heart with atrial septal defect and valvular pulmonary stenosis. Med Ann District Columbia. 1974;43:413-418.
   
9. Ishikawa S, Zurhein GM, Gilbert EF. Uhl's anomaly in the mink: partial absence of the right atrial and ventricular myocardium. Arch Pathol Lab Med. 1977;101:388-390. [Medline] [Order article via Infotrieve]
   
10. Abe T, Kuribayashi R, Sato M, Nioch S, Abe S. Congenital hypoplasia of the right ventricular myocardium (Uhl's anomaly): a case report and review of the literature. J Cardiovasc Surg. 1973;14:431-437.[Medline] [Order article via Infotrieve]
    

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