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Biomedical subjects

R Emanuel

Publications and source records attributed to R Emanuel.

At least 37 records · Page 2Linked to original sources
PubMed1978

Familial study of hypertrophic cardiomyopathy and congenital aortic valve disease.

A woman with coexisting calcific aortic valve disease and hypertrophic obstructive cardiomyopathy was studied before homograft replacement of the aortic valve and in the second and fourth postoperative years. Postoperative hemodynamic findngs, in studies performed with and without pharmacologic agents, were similar to those of patients with hypertrophic cardiomyopathy. Echocardiographic studies 9 years after operation revealed asymmetric septal hypertrophy and systolic anterior motion of the mitral valve leaflet echoes. The patient eventually died from carcinoma of the bronchus 9 years after aortic valve replacement. At autopsy the heart showed the features of hypertrophic obstructive cardiomyopathy. In addition, the aorta the arrangement of the smooth muscle and elastic fibers was disordered. Subsequently, 10 asymptomatic relatives from four generations of this family were studied clinically and with echocardiography. Unsuspected asymmetric septal hypertrophy was found in four, and the pattern of the aortic valve echoes was compatible with a bicuspid valve in three. Three relatives had coexisting asymmetric septal hypertrophy and a bicuspid aortic valve. This family study shows that hypertrophic cardiomyopathy and bicuspid aortic valve may coexist and may be inherited as a dominant characteristic with variable manifestations.

Adult↗
PubMed1978

Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families.

The families of 41 patients with surgically proved isolated bicuspid aortic valves were examined. There were 275 first degree relatives of whom 220 were living, and 188 (85.5%) of these were examined. Seven first degree relatives were found to have aortic valve disease, and in a further 11 there was 'doubtful' evidence of bicuspid aortic valves. In 6 families there was more than 1 affected member and in an additional 7 families there was 1 or more 'doubtful' first degree relative. The minimum family incidence was therefore 14.6 per cent, or 31.7 per cent if 'doubtful' cases were included. The inheritance is most probably multifactorial, but occasionally the condition may occur as an autosomal dominant. The difficulties of diagnosing bicuspid aortic valves before the development of obstruction of left ventricular outflow were encountered and are discussed. The association of a bicuspid aortic valve with asymmetric septal hypertrophy, hypertrophic cardiomyopathy, and Marfan's syndrome was also noted.

Aortic Valve↗
PubMed1977

Formes frustes of Marfan's syndrome presenting with severe aortic regurgitation. Clinicogenetic study of 18 families.

Eighteen patients who presented with severe aortic regurgitation and dilatation of the ascending aorta were found to be formes frustes of Marfan's syndrome and formed the basis for this clinicogenetic study. All had aortic valve replacement and reconstruction of part of the ascending aorta. The diagnosis was confirmed by histological examination of the aortic tissue. There were 126 first degree relatives; 85 were living and 67 (78-8%) of these were examined. Limited information was available about 32 of the 41 relatives who had died. No relative had the classical clinical features of Marfan's syndrome but stigmata of the disease were found in 25 (37-3%) of the 67 first degree relatives examined. In 21, the abnormality was confined to the cardiovascular system, the skeleton, or the eye, but in 4, abnormalities involved 2 systems. Cardiovascular abnormalities affecting the aortic valve or aortic wall were present in 6 (9-0%) of the 67 first degree relatives examined. One or more of the skeletal indices measured (height-span difference, metacarpal index, phalangeal index) was abnormal in 18 (26-9%) and ocular abnormalities were found in 5 of 51 (9-8%) examined. There were no relatives with dislocation of the lens or iridodonesis. Using strict diagnostic criteria, a minimum of 37-3 per cent of the first degree relatives examined were affected; this involved 12 of the 18 families studied. There was nothing in our data to suggest that the formes frustes of the disease had a different mode of inheritance from the classical syndrome.

Adult↗
PubMed1976

Hereditary prolongation of the Q-T interval. Genetic observations and management in three families with twelve affected members.

Three families with the prolongation Q-T interval are described. Two demonstrated the nonsex-linked dominant mode of inheritance of the condition without neural deafness (the Romano-Ward syndrome). Family A had four affected members in three generations. Family B had three affected members in two generations, but the parents of the affected children were distant relatives. Family C had five affected members in three generations. Of the nine living affected members, seven were asymptomatic and never experienced syncope. The remaining two, aged 7 and 9 years, respectively, had multiple syncopal attacks. Of three affected members who died, two had electrocardiograms before death. The thirds, an apparently healthy boy of 14 years, had a single syncopal attack 13 months before he died in his sleep. The nature of the dysrhythmia causing syncope was documented in two cases. One of the affected children was treated successfully with a permanent demand pacemaker and propranolol, the other with propranolol alone. The electrophysiologic findings and the management of both symptomatic and asymptomatic patients are discussed.

Adolescent↗
PubMed1976

Ebstein's anomaly. Genetic study of 26 families.

The families of 26 patients with Ebstein's anomaly were examined. There were 120 first-degree relatives, 100 of whom were living, and 93 of these were examined. Information was available on 14 of the 20 who had died. No case of Ebstein's anomaly was found among the first-degree relatives, but 2 had ventricular septal defects and another, who died at 7 months, was said to have had congenital heart disease. In more distant relatives there were 6 with congenital heart disease, including 2 with ventricular septal defects and 2 with Fallot's tetralogy.

Ebstein Anomaly↗
PubMed1976

Congenital aortic valve disease with rupture of mitral chordae tendineae.

A new clinical entity is described in which free aortic regurgitation from congenital aortic valve disease caused rupture of the chordae to the anterior leaflet of the mitral valve in 7 men aged 45 to 63 years (mean 52 years); 2 of the patients also had rupture of chordae to the posterior leaflet. Comparing these patients with those with ruptured mitral chordae in association with rheumatic heart disease and patients with spontaneous chordal rupture, differences were evident. No patient had a history of rheumatic fever and none had active infection. The typical clinical presentation was of acute mitral regurgitation into a small left atrium, with severe pulmonary oedema which was often resistant to medical treatment. The cause of chordal rupture in these patients was in part the result of progressive left ventricular dilatation, of direct trauma to the anterior cusp of the mitral valve, and possibly of a genetic factor. The anatomical features of both aortic and mitral valves are described, and in 3 histology of the mitral valve was available; 2 had myxomatous degeneration similar to that seen in patients with spontaneous chordal rupture, and in 1 there was degeneration of collagen tissue. All patients were treated surgically but the mortality was high (5 out of 7,70%). Early operation with replacement of the aortic and mitral valves is recommended if this high mortality is to be reduced.

Aortic Valve↗
PubMed1976

Syphilitic aortic regurgitation. An appraisal of surgical treatment.

During the 10 years from 1964 to 1973, fifteen patients with severe syphilitic aortic regurgitation were treated surgically at the National Heart Hospital. In thirteen the valve was replaced and in two it was repaired. In addition four had replacement of an aneurysmal ascending aorta with a Dacron graft and seven some form of plastic repair to the coronary ostia. Three patients died within 1 month of surgery and a further six during the follow-up period which varied from 1 to 55 months (mean 25-5). The six survivors have been followed-up for an average of 33 months. Factors contributing to this high mortality were analysed and it was found that the mean duration of effort dyspnoea was 22 months in the survivors compared with 48 months in those who had died. Similarly the average duration of nocturnal dyspnoea was 4 months in the survivors compared with a mean of 8 months in those who had died. Only six out of the fifteen patients had angina; this was present in two of the survivors and in four of the fatalities. The pulse pressure, heart size, and haemodynamic findings were similar in the two groups. The prognostic value of an elevated erythocyte sedimentation rate was also examined. It was concluded that preoperative investigations should include aortography, coronary arteriography, an assessment of left ventricular function, and whenever possible myocardial biopsy. These data were interpreted as suggesting that patients should be referred for surgery at an earlier stage in the disease--certainly before the onset of cardiac failure and--and that if this more aggresive attitude was adopted, as it has been in non-syphilitic cases of aortic valve disease, the present high mortality in this group would be reduced.

Adult↗
PubMed1975

Association of secundum atrial septal defect with abnormalities of atrioventricular conduction or left axis deviation. Genetic study of 10 families.

A genetic analysis was made of 10 families in which the propositi had a secundum atrial septal defect associated with abnormal atrioventricular conduction (first, second, or third degree heart block) or unexplained left axis deviation or a combination of these conduction disturbances. Diagnostic information was available on 51 (81%) of the first degree relatives. Three of the families appeared to be examples of a new syndrome which, with variable expression, was inherited as a non-sex-linked autosomal dominant. The main features were a secundum atrial septal defect; disease of the conducting tissue, which in some cases was progressive; unexplained left axis deviation; and unexpected death. These families did not seem to be examples of the Holt-Oram syndrome, for the upper limbs were clinically and radiologically normal in the 19 members examined. The importance of recognizing this syndrome is the occurrence of progressive disease of the conducting tissue and the risk of sudden death. When, therefore, unexplained left axis deviation or prolonged atrioventricular conduction is found in association with a secundum atrial septal defect all available relatives should be examined. In the remaining seven families there was only one affected first degree relative out of 39 examined. He was the son of one of the propositi and had paroxysmal coronary sinus rhythm with an intact atrial septum.

Adolescent↗
PubMed1975

Echocardiographic spectrum of hypertrophic cardiomyopathy.

Echocardiographic patterns in 15 patients with hypertrophic cardiomyopathy were compared with those in 30 healthy persons. Correlations with angiocardiographic data indicated that most of the anatomical abnormalities in hypertrophic cardiomyopathy can be assessed reliably by echocardiography. These include abnormal mitral valve motion, a reduction of the anteroposterior dimension of the left ventricular outflow tract and of the left and right ventricular cavities, increased thickness of the interventricular septum and the posterior left ventricular wall. Comparision of the haemodynamic and echocardiographic data showed that some degree of abnormal mitral valve motion during systole may occur in the absence of left ventricular outflow tract obstruction. On the other hand, it need not always be present with left ventricular outflow tract obstruction. Other, hitherto unrecognized, abnormalities in hypertrophic cardiomyopathy detected by this technique were: (1) Aortic valve regurgitation in three out of nine patients with evidence of left ventricular cutflow tract obstruction at cardiac catheterization. (2) Left ventricular inflow tract obstruction at the mitral valve level associated with gross septal hypertrophy (five cases). (3) Abnormal forward displacement of the posterior mitral valve leaflet and of the chordae tendineae during systole in 10 patients, in seven of whom there was confirmatory angiocardiographic evidence. Seven patients with miscellaneous cardiac disorders are described in whom asymmetric septal hypertrophy was revealed by echocardiography. In one of these patients coexisting hypertrophic cardiomyopathy was excluded histologically; thus asymmetrical septal hypertrophy is not confined to patients with hypertrophic cardiomyopathy.

Adolescent↗
PubMed1975

Aortic regurgitation from infective endocarditis in Fallot's tetralogy and pulmonary atresia.

Three cases of aortic regurgitation acquired as the result of bacterial endocarditis complicating Fallot's tetralogy and pulmonary atresia have been described. One also had mitral regurgitation from a 'jet lesion' of the anterior cusp of the mitral valve. Surgical treatment of all abnormalities with aortic valve repair or replacement was undertaken in each patient and was successful in two. Difficulties in diagnosis and surgical treatment are discussed.

Adult↗