Familial cardiomegaly.

In 1949 William Evans gave the name of familial cardiomegaly to what he believed to be a "distinct syndrome having a definite clinical, cardiographic, and pathological pattern." The essential features were the familial incidence of cardiomegaly without obvious cause and a marked tendency to arrhythmia and heart block with associated palpitation, giddiness, and syncope. Death may be sudden or rapid due to the development of left ventricular failure. In the electrocardiogram the QRS complexes are often exceptionally wide and the T waves inverted. Conspicuous myocardial fibrosis and hypertrophy of the remaining muscle fibres are the striking pathological findings. Both the degree of conduction defect and the prognosis seem to depend on the extent of myocardial fibrosis and cardiac enlargement. Evans referred to two previous accounts of obscure cardiomegaly occurring in members of the same family published in the case records of the Massachusetts General Hospital in 1942 and by Addarii (1943) and Addarii, Martini, Mahaim, and Winston (1946). Subsequently cases have been published by Davies (1952), Parsons (1952), De Matteis and Ozzano (1954), Campbell and Turner-Warwick (1956), Gaunt and Lecutier (1956), and Paulley, Jones, Green, and Kane (1956). Among these, however, are included cases of cardiomegaly with no supporting family history and others where there is good reason to believe that the cardiac hypertrophy was secondary to acquired valvular disease, congenital cardiac malformations, or toxoplasmosis. In our view the diagnosis of familial cardiomegaly should only be made when other causes of cardiac enlargement have been excluded and when there is a clear supporting family history. Moreover, in the present state of knowledge, it seems wise only to include those cases where the diagnosis has been established by necropsy study in at least one affected member of the family. The reports of seven affected families (15 cases) comply with *Present address: Department of Clinical Pathology, Manchester Royal Infirmary. these criteria and include eight necropsy studies. Only these cases are included in Table I and the subsequent discussion. The purpose of this paper is to present a further example of a family with cardiomegaly, the three affected members of which died suddenly. Postmortem studies were made in all three cases although in one details of the necropsy findings are no longer available.