Lege Artis Medicinae

[Prenatal diagnosis of endocardial fibroelastosis]

KÁDÁR Krisztina1, KIRÁLY László2

DECEMBER 28, 1994

Lege Artis Medicinae - 1994;4(12)

[The authors report two cases of prenatally diagnosed endocardial fibroelastosis with echocardiography for the first time in Hungary. This disease is rare and usually fatal. Diagnoses were confirmed by autopsy and in one case by postnatal echocardiography as well. Principles for the diagnosis of endocardial fibroelastosis are discussed. Echocardiography makes possible the prenatal diagnosis of endocardial fibroelastosis and is recommended from the 18th week of pregnancy in high risk individuals.]

AFFILIATIONS

  1. Országos Kardiológiai Intézet, Gyermekosztály
  2. Heim Pál Kórház Kórbonctani Osztály Budapest

COMMENTS

0 comments

Further articles in this publication

Lege Artis Medicinae

[The first 15 years of the AIDS epidemic ]

FÖLDES István

[AIDS represents the most exciting infectious disease of the last 15 years. In addition to the fact that there are more than 4 million estimated AIDS patients and more than 16 million estimated HIV-infected individuals this can be explained by the peculiar features of the disease, including limited routes of infection, long latency period, a quasi 100% lethality, diversity of the clinical picture, difficulties in therapy and vaccination, the theoretically 100% possibility of prevention and the serious social problems associated with AIDS. After giving a short review of the development of our knowledge about AIDS, the author to explains the special features of AIDS mentioned above on the basis of the structure, regulation and replication cycle of the virus. The primary conclusion is that education and prevention should be stressed in the battle against AIDS.]

Lege Artis Medicinae

[The role of transesophageal echocardiography in the investigation of stroke]

LENGYEL Mária

[Ischaemic infarction accounts for 85% of stroke aetiology (1). Approximately 60-70% of these are of cerebrovascular, i.e. carotid arteriosclerosis, origin (2). The proportion of cardiogenic embolism was previously estimated at 15% (1), but autopsy data suggest that embolism is the cause of half of fatal strokes (3). There are two reasons for this large discrepancy: 1) the intracardiac source is difficult to identify in vivo; 2) cardiogenic embolism has a more severe outcome than stroke of other origin. Probably both are true, but there is no doubt that before the introduction of transesophageal echocardiography (TE), the detection of intracardiac sources was rare and uncertain.]

Lege Artis Medicinae

[A multicentre, randomised, crossover, double-necked trial of contamination of conventional and bow-tie dressings in routine obstetric and gynaecological practice]

MARINKO M Biljan, CHARLES A Hart, DEBORAH Sunderland, PAUL R Manasse, CHARLES R Kingsland

[In the 19th century, the usual dress of doctors was a small bow tie tied in a flat knot "once round" in addition to a stiff standing collar (1). As fashions have changed, the wearing of bow ties has become less common and is now worn almost exclusively by a small minority of obstetricians, who often claim that they are more hygienic than the traditional tie in the delivery room, which is contaminated with blood and amniotic fluid. There is currently no evidence for this. We therefore examined the contamination of traditional and bow ties worn by obstetricians during a typical working week. ]

Lege Artis Medicinae

[Clinical and laboratory parameters in ulcerative colitis]

NAGY Ferenc, PAPÓS Miklós, CSERNAY László

[The clinical and laboratory parameters which correlate with the intensity of the inflammatory process in ulcerative colitis patients were analyzed in this study. The severity of the inflammatory process was assessed with leukocytescinti graphy by colorectal segments using a scoring method in 36 patients (group A). The sum of the segmental scores were considered to represent the intensity of the inflammatory process and were compared with clinical and laboratory parameters. From among the 36 patients, acute ulcerative colitis was established with biopsy in 30 cases. Two toxic patients were not tested and four patients had inactive disease. In 20 (16 acute, 4 inactive) of 36 patients, the intensity of the inflammatory process was assessed by segments with score values of biopsy samples and leukocyte scintigraphy (group B). The sum of the score values was used to determine the correlation of the two methods. The intensity of the inflammatory process assessed by scintigraphy showed a good correlation (r = 0.6564, p = 0.0016) with histological findings (group B), as well as with the ESR (r = 0.6398), serum fibrinogen (r = 0.5424), alfa2 globulin level (r = 0.4721), number of bloody stools (r = 0.4605), and the thrombocyte count (r = 0,4594) in group A. Five clinical and laboratory parameters proved to be suitable to assess the actual severity of the inflammatory process in ulcerative colitis. The values of the parameters may help to choose the right examination in new cases and to evaluate the efficacy of the therapy. ]

Lege Artis Medicinae

[Is pay for performance a viable option in the health sector?]

STEPHEN Valley

[After reviewing our department's employment statistics a few weeks ago, I was not surprised to see that we have performed almost twice as many radiology examinations in the past year as the Royal College of Radiologists' recommended number of examinations. Since 1990, the number of outpatient examinations in our department has increased by 48%, the number of inpatient examinations by 13% and the number of accident and emergency examinations by 6%. Most other specialists could report similar figures.]

All articles in the issue

Related contents

Lege Artis Medicinae

[Non-immune hydrops caused by double-chambered right ventricle of the heart]

HAJDÚ Júlia, SZILLER István, MACHAY Tamás, SZABÓ István, PAPP Zoltán, MARTON Tamás, SZATMÁRI András

[The isolated double chambered right ventricle is a rare congenital cardiac malformation. No such case diagnosed in utero has been published. Our case was associated with hydrops syndrome. This malformation has not been published as a cause of non-immune hydrops. At the 29th week of gestation, a severe form of isolated double-chambered right ventricle was found in a fetus. The diagnosis was based on echocardiographic examination (ATL, Ult ramark 9, M-mode, 2 dimension Doppler, color-coded Doppler). The malformation caused severe hydrops. The authors had differential diagnostic problems because of the rarity of this case. The most common causes of non-immun hydrops fetalis (40% of the cases) are cardiac abnormalities. Modern, high resolution ultrasonic equipment has provided the possibility of detecting these malformations. The fetal prognosis in such cases is poor. ]

Clinical Neuroscience

[Advances in the diagnostics of spinal muscular atrophy]

HERCZEGFALVI Ágnes, KARCAGI Veronika, TÍMÁR László

[The three most common types of childhood spinal muscular atrophy (SMA) are type I or Werdnig Hoffmann disease, type II or intermediate form, and type III or Kugelberg-Welander disease. The clinical features of these three types are characteristic, profound limb hypotonia, wasting of muscles and areflexia. All three forms of SMA reveal an autosomal recessive mode of inheritance. The gene responsible for all three types of SMA is located on the long arm of chromosome 5 in the region of 5q11.2-913.3. Starting from 1993 blood samples were collected from 87 Hungarian families with all 3 types of SMA. DNA samples of all family members were analysed with the currently available highly informative microsatellite DNA markers in the locus 5q11.2 q13.3. Moreover, affected persons and their family members have been analysed for deletions of the survival of motor neuron gen (SMN). Prenatal diagnoses were performed in 28 cases at the request of the affected families. The possibility of prenatal diagnosis is a major step forward in helping these families, as the risk of recurrence of this devasting, untreatable disease is 25% in affected families.]

Lege Artis Medicinae

[Prenatal follow up of a complex cardiac malformation complicated with complete AV block]

SZABÓ István, CSABAY László, NÉMET János, HAJDÚ Júlia, PAPP Zoltán

[In a congenital disorder of heart development where the complex cardiac malformation is pared with complete atrioventricular block heart rate is stabile between 50–60 beats/min. Transfer of atrial impulses through the AV node is fully blocked and the slow rhythmic heart beat is maintained by a ventricular pacemaker. In a case of such a complete cardiac malformation recognized in week 32 of gestation and the AV block complication caused stabile 57–58 beat/min bradycardia. 2-di mensional, pulsed and color Doppler ultrasonography was used to identify the disorder and to follow up the intrauterine condition of the fetus. Cardiotocography (CTG) could not generate appreciable results at such a low heart rate. During observation no centralization of fetal circulation causing intrauterine hypoxia was recorded. Updated knowledge on the pathogenesis and obs tetrical management of the fetal third degree AV block is also presented. In this case ultrasonography allowed clear-cut identification of the disorder and also ensured correct evaluation of the intrauterine status of the fetus when other diagnostic methods for evaluation were not applicable. ]

Clinical Neuroscience

[Prenatal diagnosis of central nervous system malformations]

LANGMÁR Zoltán, NÉMETH Miklós, CSABA Ákos, SZIGETI Zsanett, JOÓ József Gábor

[The prenatal diagnosis of fetal malformations have been the subject of numerous publications in the literature. This has dramatically increased in the last 15 years, mainly due to the advent of high-resolution ultrasound. In addition adequate guidelines issued by professional organizations have encouraged the universal approach to the imaging of fetal anatomy as well as malformations. One of the most significant groups of the fetal anomalies is the central nervous system malformation. Due to its prevalence and severity the praenatal diagnostics of central nervous system malformations got basic significance. In this review we attempted to summarize the recent informations concerning the praenatal diagnostics of the central nervous system anomalies.]

Clinical Neuroscience

[Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis]

LÁSZLÓ Aranka, ENDREFFY Emőke, TÜMER Zeynep, HORN Nina, SZABÓ János

[Menkes disease (MD) is an X-linked recessive multisystemic lethal, heredodegenerative disorder. Progressive neurodegeneration and connective tissue disturbances with microscopically kinky hair are the main symptoms. Molecular genetic mutation analysis was made at a Hungarian male infant suffering from MD and prenatal diagnosis was done in this MD loaded family. Method - The 12th exon of ATP7A gene has been analyzed by dideoxy-finger printing (DDF), polymerase chain reaction (PCR), direct sequencing of exon 12. The specific mutation was screened from chorionic villi of the maternal aunt at the 14th gestational week. Results - In the exon 12th a basic pair substitution with Arg 844 His change was detected leading to very severe fatal missense mutation.]