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Biomedical subjects

H S Joffe

Publications and source records attributed to H S Joffe.

At least 19 recordsLinked to original sources
PubMed1997

A regional study of presentation and outcome of hypertrophic cardiomyopathy in infants.

OBJECTIVE: To describe regional incidence, presentation, and outcome of idiopathic (familial) and Noonan syndrome related infant hypertrophic cardiomyopathy (HCM) between 1969 and 1994. DESIGN: Case series. SETTING: Regional cardiac referral unit of the South West Region of England and south Wales, population approximately four million. PATIENTS: 21 cases of idiopathic (or familial) HCM, and eight infants with Noonan syndrome. MAIN OUTCOME MEASURES: Survival and persistence or resolution of symptoms or cardiac hypertrophy. RESULTS: Incidence: eight cases between 1969 and 1982 (idiopathic 6, Noonan 2), 21 cases between 1982 to 1994 (idiopathic 15, Noonan 6). Mode of presentation: cardiac failure, 17 (59%); murmur, 9 (30%); cyanosis, 2 (7%); family history, 1 (7%). Age at presentation: 0-7 days, 16 (55%); 8 days-4 months, 9 (31%); 5-12 months, 4 (14%). OUTCOME: five deaths (17%), all < 1 year, all from progressive cardiac failure (idiopathic 3, Noonan 2). Four of these five had not received beta blockade. Among the 24 survivors (follow up 1.3-23.2 years, median 5.5 years) hypertrophy had resolved in nine (38%) (idiopathic 8, Noonan 1), was mild and asymptomatic in seven (29%), and was symptomatic or severe in eight (33%). All 10 infants presenting with septal thickness > 1.3 cm have persistent cardiac hypertrophy. CONCLUSIONS: Mortality in infant HCM is much lower than previously reported and resolution is more frequent. This may reflect increased detection of less severe forms in addition to the success of aggressive medical management including beta blockade.

Adrenergic beta-Antagonists↗
PubMed1994

Neonatal aortic arch thrombosis.

An infant presented shortly after birth with signs suggestive of aortic coarctation. Echocardiography revealed an extensive aortic arch thrombus, not amenable to surgery. Thrombolytic agents reduced thrombus size, enabling survival, but failed to prevent neurological damage secondary to cerebral embolisation.

Aorta, Thoracic↗
PubMed1994

Mitral valve hypoplasia in children with isolated coarctation of the aorta.

OBJECTIVE: To test the hypothesis that isolated coarctation of the aorta is associated with relative hypoplasia of the mitral valve, even when the valve is morphologically normal. DESIGN: Cross sectional and Doppler echocardiography were used in a prospective, paired, case control study to compare mitral valve dimensions and diastolic transmitral flow characteristics as indices of left heart development. 40 children with isolated coarctation and 40 size matched controls were examined. Within the coarctation group 14 children with apical diastolic murmurs were compared with 14 size matched patients without murmurs. SETTING: A supraregional tertiary referral centre for paediatric cardiology. OUTCOME MEASURES: Mitral valve diameters, measured from the parasternal long axis, short axis, and apical four chamber views; mitral valve cross sectional area measured from the parasternal short axis view; peak early (E) and peak atrial (A) phase diastolic transmitral flow velocities measured by pulsed wave Doppler from the apical four chamber view; derived E/A ratio and pressure half time of decay from peak E. RESULTS: Mitral valve dimensions were significantly smaller in children with coarctation than in controls for long axis diameter (median 1.74 v 1.90cm, p = 0.0001), short axis diameter (2.21 v 2.28 cm, p = 0.027), and cross sectional area (2.37 v 3.15 cm2, p = 0.001). Peak E and A velocities were significantly higher in patients than in controls (0.9 v 0.82 ms-1, p = 0.013 and 0.61 v 0.51 ms-1, p = 0.007). The only difference between children with coarctation plus murmurs and those without murmurs was a marginally longer pressure half time. CONCLUSIONS: Smaller mitral valve dimensions and increased diastolic transmitral flow velocities in children with isolated coarctation compared with normal children suggests that coarctation may be part of a generalised hypoplasia of left heart structures.

Adolescent↗
PubMed1993

Medium-term clinical results after the Senning procedure with haemodynamic and angiographic evaluation of the venous pathways.

OBJECTIVE: To assess the clinical condition of patients and the adequacy of their newly constructed venous pathways after the Senning operation for simple transposition of the great arteries. PATIENTS AND DESIGN: All 34 patients who had the Senning operation between March 1983 and December 1986 were reviewed. Survivors had detailed cardiac catheterisation studies one to two years later and clinical evaluation two to six years after surgery. RESULTS: There were two operative deaths (6%), one sudden late death (after two years), and 31 survivors (91%). No clinical evidence of obstructed venous pathways was found and there was no need for reoperation for any reason. The average mean (SD) pressure gradient at the junction of the superior vena cava and systemic venous atrium was 2.0 (1.7) mm Hg, although two patients had gradients of 7 mm Hg. The average gradient was 0.7 (1) mm Hg in the inferior vena caval pathway, and 1.4 (1.1) mm Hg between the mean pulmonary arterial wedge and pulmonary venous atrial pressures. Only the two patients with gradients of 7 mm Hg at the junction of the superior vena cava and the systemic venous atrium had considerable narrowing of the pathway and retrograde flow in the azygos vein to below the diaphragm. CONCLUSION: A small series of patients were comprehensively studied after the Senning operation for simple transposition of the great arteries. Scrupulous technique in the construction of the venous pathways has had excellent results with no need for reoperation for obstruction in either the systemic or pulmonary pathways. Clinical observation alone may fail to identify patients with venous pathway obstruction, therefore careful assessment is required, even in patients who are physically normal.

Angiography↗
PubMed1993

Balloon dilatation (valvoplasty) as first line treatment for severe stenosis of the aortic valve in early infancy: medium term results and determinants of survival.

OBJECTIVE: To assess the results of balloon dilatation of the aortic valve as first line treatment for infants presenting in the first two months of life with cardiac failure caused by severe aortic stenosis. DESIGN: A prospective study of all such infants presenting to a single centre over a three year period. PATIENTS: Of 14 consecutive infants aged < 2 months presenting with heart failure due to severe stenosis of the aortic valve, 12 underwent balloon dilatation of the valve. Two infants with hypoplastic left heart syndrome were excluded. Six patients had other significant cardiac malformations, nine had endocardial fibroelastosis. Four infants were moribund at presentation. INTERVENTIONS: Balloon dilatation was performed through the femoral artery under general anaesthetic, with heparin and antibiotic prophylaxis. Maximum inflated balloon size was selected as equal to or slightly less than the diameter of the aortic valve measured echocardiographically. In two infants balloon dilatation of coexistent severe coarctation was performed at the same time. RESULTS: Dilatation was achieved in all cases. Early survival rate (up to one month) was 75%; 50% survive up to three years. The two deaths occurring < 24 hours after dilatation probably related to the infants' poor condition at presentation and the presence of significant left ventricular hypoplasia. The other early death was due to severe mitral regurgitation from papillary muscle dysfunction. All later deaths were related to associated malformations. The difference in left ventricular size (diameter and length) measured echocardiographically at presentation between survivors and those that died is significant (p < or = 0.002). 83% of deaths occurred in infants with associated malformations. Cusp perforation occurred in one infant, which may have contributed to this patient's death. Left ventricular perforation and cardiac tamponade were treated successfully by prompt pericardiocentesis in another. CONCLUSIONS: Balloon dilatation of the aortic valve is an acceptable first line treatment for neonates with severe symptomatic stenosis of the aortic valve. Outcome depends principally on left ventricular size and on the presence, severity, and timing of treatment of associated malformations. Severe endocardial fibroelastosis was not a risk factor for early death but may have implications for long term survival. The survival rate for this high risk group might be improved by a stratified approach where patients with adequate left ventricular size have balloon dilatation whereas those with severe ventricular hypoplasia are managed like patients with the hypoplastic left heart syndrome.

Aortic Valve↗
PubMed1991

Genesis of Still's murmurs: a controlled Doppler echocardiographic study.

OBJECTIVE: The origin of innocent systolic murmurs is uncertain. This study was designed to evaluate the relative contribution in the same subjects of the main factors implicated in the genesis of vibratory innocent systolic murmurs--that is, the presence of left ventricular bands and increased left ventricular flow indices--and to examine evidence for turbulence in relation to these findings. PATIENTS: 40 children with innocent systolic murmurs and 40 paired controls without murmurs were matched for age and body surface area. DESIGN: These subjects were examined prospectively by cross sectional echocardiography with pulsed and continuous wave Doppler and colour flow mapping. SETTING: A tertiary referral centre for paediatric cardiology. RESULTS: Left ventricular bands were significantly more prevalent in patients with innocent murmurs (70%) than in controls (48%) but only if apical bands were included (p = 0.039). Cases had significantly higher aortic peak flow velocities (p less than 0.001), flow integrals (p = 0.001), and stroke volumes (p = 0.014), and significantly lower heart rates (p = 0.033) than controls. There were no significant differences between cases and controls in mean aortic diameter, cardiac output, or ejection fraction. There was no evidence of turbulence in the left ventricle or outflow tract in any individual but curvilinear periodic vibrations and audible "whoops" were detected in the left ventricle by pulsed wave Doppler echocardiography. These were significantly more common in cases than controls (p less than 0.01) but were not related to the presence of bands. CONCLUSIONS: Innocent systolic murmurs were unrelated to aortic size but they were strongly associated with higher aortic flow volume and velocity, with relative bradycardia, and with evidence of vibratory phenomena in the left ventricle. The role of left ventricular bands remains uncertain.

Adolescent↗
PubMed1990

Fatal hypertrophic cardiomyopathy in an infant of a diabetic mother.

The case is reported of a male infant with hypertrophic cardiomyopathy (HCM), attributed to maternal diabetes, who, contrary to the usually good prognosis of this condition, died at 11 weeks of age. The clinical, echocardiographic, and pathological findings were indistinguishable from familial HCM, except for the lesser degree of myocardial fiber disarray on microscopic examination.

Adult↗
PubMed1989

Kawasaki disease in siblings.

We report a case of mucocutaneous lymph node syndrome, which was diagnosed in a 13 month old boy two years after the death of his sister from the same disease.

Coronary Vessels↗
PubMed1986

Superior vena caval abnormalities: their occurrence rate, associated cardiac abnormalities and angiographic classification in a paediatric population with congenital heart disease.

Angiography of the superior systemic veins was performed on 510 patients with congenital heart disease. An analysis of these angiograms was carried out and a simple angiographic classification of superior vena caval anomalies is presented. Eleven per cent of cases had complete bilateral superior vena cavae, a frequency of occurrence higher than that previously reported. An analysis of associated congenital heart lesions revealed a higher than average association of bilateral superior vena cavae with atrioventricular septal defects and double-outlet right ventricle, but this was seen rarely in cases of transposition of the great arteries. Bilateral superior vena cavae also occurred very frequently (72%) in patients with situs abnormalities. Femoral vein catheterisation is likely to facilitate diagnosis and appropriate radiological signs are discussed.

Adolescent↗
PubMed1983

Anomalous left coronary artery from the pulmonary artery - a therapeutic dilemma.

An anomalous left coronary artery from the pulmonary artery was diagnosed clinically in 12 patients (and confirmed angiographically in 11 and at autopsy in 1). A classic history of 'infantile angina' was obtained in only 1 patient, while the typical electrocardiographic findings of anterolateral ischaemia or infarction were present in 11 patients (92%). The majority had evidence of left ventricular dysfunction and mitral regurgitation. Three patients underwent surgical reimplantation of the anomalous left coronary artery into the ascending aorta. Two survive, but with persistent electrocardiographic changes and cardiomegaly. Nine patients, of whom 4 survive, were managed medically. Five of the 6 deaths occurred within 1 month of diagnosis. A conservative approach to surgical intervention is recommended, as surgery is unlikely to alter the ultimate prognosis.

Angiography↗
PubMed1982

Mitral valve replacement in children.

Mitral valve replacement (MVR) is associated with higher mortality and morbidity rates in children than in adults, and the use of heterograft valves has been encouraged. The results of MVR in 56 consecutive patients, aged 2 to 12 years, presenting between January, 1972, and January 1979, were reviewed to test these beliefs. The etiology of mitral valve disease was rheumatic in 46, congenital in eight, and acute bacterial endocarditis in two. All children were seriously disabled (NYHA Classes III and IV). Cardiac catheterization in 36 patients revealed mixed valve disease in 26, pure mitral regurgitation in seven, and pure mitral stenosis in three. Seventeen Starr-Edwards (SE), five Lillehei (L), Björk-Shiley (BS), eight Hancock (H), and 25 Carpentier-Edwards (CE) mitral prosthesis were inserted. Operative mortality was 2% (1 BS) and late mortality was 10% (three SE, one L, two CE). Serious late complications occurred in 30% of survivors, including 11 instances of calcific valve stenosis (five H, six CE), one case of valve thrombosis (1 L), and two embolic episodes (1 SER, 1 H). Survival curves were similar for patients with heterograft and mechanical valves (92% and 77% at 5 years). Event-free curves showed heterograft valves to have a far higher complication rate than mechanical valves (10% complication free at 4 years compared to 84% free at 5 years). Early operative results in children are excellent, and the overall mortality (10%) compares favorably with figures for MVR in adults. However the long-term durability and choice of prostheses remain problematical, since less than 10% of heterograft valves survive beyond 5 years.

Acute Disease↗
PubMed1980

Angiocardiographic and enzyme studies in a patient with type II glycogenosis (Pompe's disease). A case report.

An infant with hypotonia, gross cardiomegaly and heart failure is described. Angiocardiography revealed a hypertrophic restrictive cardiomyopathy. The diagnosis of type II glycogenosis was confirmed by the total absence of alpha-1,4-glucosidase in cultured skin fibroblasts. It is now possible to offer prenatal diagnosis by amniocentesis to women at risk of having affected children.

Clinical Enzyme Tests↗
PubMed1979

Lymphatic abnormalities in Noonan syndrome: A case report.

Lymphatic abnormalities are not generally recognized as part of the Noonan syndrome. A child with this condition in whom unique and widespread lymphatic abnormalities were demonstrated by lymphography is described. Both T and B lymphocytes were detected in chylous fluid drained from the thorax. In addition, the child was found to have a protein-losing enteropathy and cardiovascular defects. The clinical spectrum of the Noonan syndrome may include animalies of the lymphatic system.

Cardiac Catheterization↗