Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia.

Variants in genes encoding core components of the spliceosomes are associated with craniofacial syndromes, collectively called craniofacial spliceosomopathies. SNRPE encodes a core component of pre-mRNA processing U-rich small nuclear ribonuclear proteins (UsnRNPs). Heterozygous variants in SNRPE have been reported in six families with isolated hypotrichosis simplex in addition to one case of isolated non syndromic congenital microcephaly. Here, we report a patient with a novel blended phenotype of microcephaly and congenital atrichia with multiple congenital anomalies due to a de novo intronic SNRPE deletion, c.82-28_82-16del, which results in exon skipping. As discussed within, this phenotype, which we propose be named SNRPE-related syndromic microcephaly and hypotrichosis, overlaps other craniofacial splicesosomopathies.

Pulmonary embolism due to compression of the inferior vena cava by a hepatic hemangioma.

We describe a 35-year-old man who had a pulmonary embolism with thrombosis of the inferior vena cava, apparently resulting from compression by a hepatic hemangioma. The diagnosis of pulmonary embolism was confirmed by pulmonary angiography; however, the hemangioma was detected only incidentally, as a hyperechoic mass, during an echocardiogram for intracardiac thrombosis. Abdominal sonography, computed tomography, celiac angiography, technetium 99m-labeled red blood cell scintigraphy, and ultrasound-guided liver biopsy all assisted in the diagnosis of hepatic hemangioma and its compression of the inferior vena cava. Because of the multisegmental and perihilar involvement of the tumor, surgery was not performed. For dissolution of the clots, the patient was given thrombolytic therapy followed by heparin administration. He was then placed on long-term warfarin therapy and is well after 5 years; the size of the hemangioma is unchanged. Cases of pulmonary embolism due to diseases of the upper abdominal organs are rare and probably underestimated. This case stresses the need for a systematic investigation of the abdomen when a pulmonary embolism is present without evidence of deep vein thrombosis.

Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy.

A 35-year-old man with severe progressive dilating cardiomyopathy and no clinical signs of muscle disease underwent muscular investigations because of markedly increased serum creatine kinase. Muscle biopsy demonstrated Becker type muscular dystrophy with dystrophin of low molecular weight. Genetic analysis showed a deletion spanning from exon 45 to exon 46 in the Xp21 region. Xp21 Becker type muscular dystrophy must be considered in the differential diagnosis of dilating cardiomyopathy.

[Clinical results and modification of left ventricular function after emergency revascularization for acute myocardial infarction]. / Risultati clinici e modificazioni della funzione ventricolare sinistra dopo rivascolarizzazione d'emergenza per infarto miocardico acuto.

Results of emergency revascularization for evolving myocardial infarction have been evaluated in 43 consecutive patients operated between January 1985 and March 1988. Time interval between onset of symptoms and coronary bypass averaged 6.7 +/- 0.5 hours (0.75-48). Intravenous or intracoronary thrombolysis was attempted pre-operatively in 26 cases. Overall hospital mortality was 6.9% (3/43) but this decreased to only 2.7% if patients in cardiogenic shock were excluded. Follow-up averaged 20.6 +/- 9.5 months (4-42). Actuarial survival was 82.9 +/- 7.3% at 36 months. Of the 36 survivors, 28 were free from angina and reinfarction at control. Nineteen patients were evaluated with angiography at follow-up (averaging 10.1 +/- 5.7 months). Left ventricular and regional ejection fraction were calculated on pre- and post-operative angiograms; regional ejection fraction was determined with the centerline method. Left ventricular ejection fraction increased from 0.49 +/- 0.15 to 0.52 +/- 0.19 (NS), regional ejection fraction improved from 0.20 +/- 0.1 to 0.27 +/- 0.16 (35% increment, p less than 0.05). The analysis of left ventricular and regional ejection fraction variations with the time elapsed from the onset of symptoms to surgery identified two subgroups of patients: those operated within and after six hours. In the first subgroup, left ventricular ejection fraction increased from 0.52 +/- 0.16 to 0.62 +/- 0.13 (p less than 0.005) and regional ejection fraction from 0.19 +/- 0.08 to 0.36 +/- 0.14 (89% increment, p less than 0.0005). In the second subgroup, both left ventricular and regional ejection fractions decreased from 0.44 +/- 0.13 to 0.36 +/- 0.11 (NS) and from 0.20 +/- 0.13 to 0.12 +/- 0.08 (NS), respectively. These results lead to the conclusion that improved left ventricular performance may be achieved in selected groups of patients if they undergo surgery within six hours of the onset of pain.

Early thrombosis of a tricuspid valve prosthesis: two-dimensional echocardiographic demonstration.

We report on the case of a 35-year-old woman who had undergone tricuspid valve replacement with a Lillehei-Kaster prosthesis 7 weeks prior to admission to our institution. Real-time two-dimensional echocardiography indicated a large mass on the inferolateral surface of the right atrium, as well as a dense band of echoes on the atrial and ventricular surfaces of the prosthesis. The diagnosis, confirmed by angiography, was early, acute thrombosis of the tilting disc prosthesis. After an unsuccessful infusion of urokinase, the patient was taken to emergency surgery; at operation, a large thrombus was discovered on the inferolateral wall, and the valve replaced. The patient recovered uneventfully, with no recurrence of thrombosis. Our experience confirms that two-dimensional echocardiography is the preferred technique for identifying intracardiac thrombi, and that surgery with replacement of the prosthesis is the treatment of choice in cases such as this where the size and age of the clot contraindicate fibrinolytic treatment.

[Myocardial scintigraphy with thallium-201 in the evaluation of aortocoronary bypass patients]. / La scintigrafia miocardica con Tallio-201 nella valutazione dei pazienti operati di by-pass aorto-coronarico.

We have compared the results of 201-Thallium scintigraphy (201 TI Sc) and those of coronary angiography in 48 patients (Pts) at a mean time of 13 months after a coronary artery by-pass grafting operation (CABG). Forty-six pts were males and 2 females, with a mean age of 52 years (range 37-66). Eighteen pts (37%) had had a myocardial infarction (MI) before the operation, 4 (8%) had a perioperative and 3 (6%) a postoperative MI. Nineteen pts (40%) had angina, 9 (19%) atypical chest pain, 6 (12%) shortness of breath or easy fatigability and 14 (29%) had no symptoms. The overall CABG patency was 74% (left anterior descending: 73%, left circumflex: 71%, right coronary artery: 80%). The 201 TI was injected at peak exercise and its myocardial uptake was recorded immediately and after four hours at rest. The 201 TI Sc has shown a sensibility (SN), specificity (SP), positive predictive (PV-pos) and negative predictive value (PV-neg) of 86, 82, 64 and 94% respectively, compared to coronary angiography. In the single patient evaluation the 201 TI Sc has shown a SN, SP, PV-pos, PV-neg of 95, 85, 82 and 96% respectively versus 90, 82, 78 and 92% of the standard exercise test associated with a positive history for 1) residual angina and 2) peri or postoperative MI. The 201 TI Sc has not shown to be significantly superior to standard exercise testing and history in the evaluation of graft patency. However it allows a topographic localization of the disease which is not feasible with the latter techniques. The 201 TI Sc can better predict the patency rather than the occlusion of the grafts because there is a high number of false positives due to residual ungrafted native disease in the territory of a good functioning graft. The 201 TI scintigraphy can give a functional evaluation of borderline grafts stenoses beside the pure anatomic definition of angiography thanks to its capability to qualitatively assess the regional myocardial blood flow during stress.

Atrial septal defect in patients over the age of 50.

Clinical, haemodynamic and follow-up data are presented for a group of 49 patients with atrial septal defect who first presented between the ages of 50 and 79. The incidence of supraventricular arrhythmias, pulmonary vascular disease and "heart failure" all increased with increasing age. Those who had the defect closed tended to be the more symptomatic and surgery resulted in symptomatic improvement in almost all. The combined early and late surgical mortality was 6.6%. Surgery appears to be of benefit in symptomatic patients below the age of 70. Above this age our small experience would suggest caution in recommending closure of the defect.

Long-term follow-up after a controlled randomized post-myocardial infarction rehabilitation programme: effects on morbidity and mortality.

Prognosis during 4.5 years of follow-up after myocardial infarction (MI) in 2 groups of patients 25 to 65 years of age was related to physical rehabilitation and usual risk factors. We randomized 167 patients to a rehabilitation (R) group and a control (C) group (84 and 83 patients respectively). At the end of the training period, the R group had a significantly higher work capacity, a higher double product reached during the stress test and lower triglycerides. During the 55 months of follow-up after the physical training or the equivalent spontaneous activity, we observed the prevalence of risk factors and of cardiac events such as angina, new MI, unstable angina, coronary bypass grafting and cardiac death. Survival rate was 92.6% in the R group and 93.7% in the C group. There was no relationship between serum cholesterol levels, tobacco smoking, and blood pressure and mortality and morbidity after the infarction. R patients were more symptom-free (44% against 30%), and had almost the same number of episodes of unstable angina and of cardiac death. 6.1% of the R group and 11.2% of the C group developed a new myocardial infarction. As in previous randomized studies we did not reach statistical significance for long-term benefit, perhaps because of the low sample size. However, our study confirmed a favorable tendency in terms of symptoms and the self confidence of the R patients.

The prognostic significance of clinical history, exercise testing and ambulatory electrocardiography in patients with uncomplicated myocardial infarction.

The prognostic value of early clinical history, exercise testing and ambulatory electrocardiography was assessed in 263 men (mean age 50 years) recovering from an uncomplicated myocardial infarction (MI). During a mean follow-up period of 31 months, 11 patients died of cardiac causes, 22 developed a non fatal recurrent MI, 16 unstable angina (UA) and 16 underwent coronary artery bypass surgery. The appearance at the exercise stress test of an ischemic S-T segment depression of 0.2 mV or greater (P less than 0.001) as well as the achievement of a work load of 360 Kg-m/m' or less (P less than 0.01) and of a rate-pressure product of 200 Units or less (P less than 0.01), were found to be predictive of the future development of UA, but neither of cardiac death nor of non fatal recurrent MI. The ischemic response was also seen to be predictive of cardiac death (P less than 0.05). S-T segment depression of 0.1 mV or greater, angina and ventricular ectopic activity during the stress test and clinical history were not of predictive value. Complex ventricular ectopic activity (multiform extrasystoles, couplets and ventricular tachycardia) recorded during 24 hour ambulatory electrocardiogram was seen to be predictive of death and non fatal MI. Whereas some parameters such as the ejection fraction and the extension of coronary artery disease are generally accepted as good predictors for cardiac events, others, such as those derived from exercise testing, history and ambulatory electrocardiography may change their predictive value from one survey to another. These discrepancies are due to differences in patient characteristics, in methodology and in medical management.(ABSTRACT TRUNCATED AT 250 WORDS)

Echocardiographic findings in a case of acquired pulmonic stenosis from extrinsic compression by a mediastinal cyst.

A peculiar echocardiographic pattern was recorded in a case of cystic teratoma of the left anterior and upper mediastinum, causing a mild stenosis at the pulmonary valve level. The usefulness of echocardiography in the evaluation of anterior mediastinal masses as they distort normal cardiac anatomy is discussed.