PubMed Health⌕ Search

Biomedical subjects

G Knöpfle

Publications and source records attributed to G Knöpfle.

At least 19 recordsLinked to original sources
PubMed2006

The syndrome of right isomerism -- prenatal diagnosis and outcome.

OBJECTIVE: To evaluate the accuracy of the prenatal diagnosis of right isomerism and to assess possible diagnostic and prognostic markers. METHODS: Retrospective review of all cases of right isomerism identified between 1989 and 2003 in two tertiary referral centres in Germany. RESULTS: Among 21 foetuses, 16 had a correct prenatal diagnosis of right isomerism. 19 showed different types of viscerocardiac heterotaxy, 12 of them in combination with juxtaposition of vena cava inferior and aorta. 20 had cardiac defects, with a high prevalence of atrioventricular septal defect (CAVSD) (62 %), right outflow tract obstruction (48 %), anomalous pulmonary venous return (33 %) and double outlet right ventricle (29 %). 4 out of 6 cases with total anomalous pulmonary venous return were overseen on prenatal ultrasound. Only 6 children survived. The highest loss occurred in the neonatal period. Two out of 6 survivors underwent single ventricle palliation, while another two had a biventricular repair. One child is awaiting mitral valve replacement. The remaining case has no cardiac defect and lives with supraventricular re-entry tachycardia. Only the presence of CAVSD was significantly correlated with non-survival (p < 0.05). CONCLUSIONS: The prenatal diagnosis of right isomerism remains a difficult task. Important sonographic markers are viscerocardiac heterotaxy, complex cardiac malformations and juxtaposition of vena cava inferior and aorta. Special attention has to be paid to the pattern of pulmonary venous drainage, as it is often misdiagnosed. The mortality in neonates is high, especially in the presence of CAVSD. Survivors suffer from significant morbidity.

Adolescent↗
PubMed2006

Intrapericardial teratoma in the newborn--3D-echocardiography and course of disease.

Intrapericardial teratoma is a rare tumour which may become life threatening when it causes mediastinal compression. Early sonographic detection and careful evaluation is necessary for further management. In this paper, we present a case with a large intrapericardial teratoma diagnosed in utero (25 + 0 weeks). After birth, 3D-echocardiography was particularly helpful in obtaining a comprehensive view of the three-dimensional structure of this complex tumour, in order to determine tumour extension and attachment before surgical excision. This case illustrates the opportunities which new, noninvasive echocardiographic tools create to aid therapeutic management and surgical therapy of critically ill patients.

Adult↗
PubMed2006

Prenatal diagnosis and therapy of upper extremity vascular malformation causing high cardiac output and Kasabach-Merritt sequence: a report of two cases.

We present two cases of upper extremity vascular malformation causing a high output state in the prenatal period. One fetus responded well to transplacental digitalis treatment. Both newborns had a Kasabach-Meritt sequence including anemia and thrombocytopenia. Postpartum treatment included successful interventional occlusion of the main feeding arteries and subsequent surgical removal of the tumor.

Anemia↗
PubMed2006

Prenatal diagnosis of persistent left superior vena cava and its associated congenital anomalies.

OBJECTIVE: To evaluate the associated conditions and the outcome of persistent left superior vena cava (PLSVC) detected in fetal life. METHODS: This was a retrospective review of all cases of PLSVC detected prenatally between 1998 and 2004 in two tertiary referral centers in Germany. Patient charts, ultrasound video recordings and still frames of all cases were reviewed for associated conditions and outcome. RESULTS: Eighty-two cases of PLSVC were detected in the study period. Thirty-seven cases (45%) were associated with heterotaxy syndromes, 19 (23%) with isolated cardiac malformations, seven (9%) with aneuploidy, six (7%) with complex malformation syndromes and six (7%) with isolated extracardiac malformations. Seven cases (9%) had no associated condition. Eighty-three percent of the fetuses in this series had associated cardiac malformations; the most frequent cardiac malformations in those with heterotaxy syndromes were complete atrioventricular septal defect (75%) and right outflow tract obstruction (58%). After exclusion of cases with heterotaxy, most congenital heart defects were ventricular septal defects (41%) and coarctation (34%). The outcome of PLSVC was determined solely by the associated conditions. After exclusion of terminated cases, heterotaxy syndromes as well as complete atrioventricular septal defects were associated significantly with perinatal and infant death. In contrast, all cases with isolated PLSVC or associated correctable extracardiac malformations survived and were doing well at the time of writing. CONCLUSIONS: PLSVC detected in fetal life has to be followed by a meticulous inspection of the fetal anatomy as it is frequently associated with heterotaxy syndromes, other cardiac/non-cardiac malformations and aneuploidy that determine the outcome. Isolated PLSVC is a benign vascular anomaly and may not affect the outcome.

Chromosome Aberrations↗
PubMed2006

Absence of ductus venosus-importance of umbilical venous drainage site.

OBJECTIVE: To evaluate the conditions associated with absent ductus venosus (ADV) diagnosed by prenatal ultrasonography. METHODS: Retrospective review of 23 cases with ADV diagnosed in two tertiary referral centers with a general screening policy concerning Doppler assessment of the ductus venosus. The results are discussed together with 63 cases from a review of the literature. RESULTS: In 19 fetuses the umbilical vein connected to the portal sinus, while the remaining four fetuses had extrahepatic umbilical venous drainage. Associated anomalies were present in 15 out of 23 fetuses: complex malformation syndromes (n = 6), chromosomal anomalies (n = 4), isolated cardiac defects (n = 4) and isolated extracardiac anomalies (n = 1). Eight fetuses had either no associated anomalies or minor anomalies. Hydropic changes were present in 12 of the 23 fetuses. In common with the reviewed cases, the presence of cardiac malformations, complex non-chromosomal malformation syndromes and hydrops was significantly associated with intrauterine or postnatal death while the type of umbilical venous drainage was not significantly different between survivors and non-survivors. However, among fetuses with no or minor associated anomalies the outcome was significantly better in the group without liver bypass. CONCLUSIONS: ADV is significantly associated with fetal cardiac and extracardiac anomalies, aneuploidies and hydrops. Fetuses with liver bypass have an additional risk of developing congestive heart failure that significantly affects outcome, even if the fetal cardiovascular anatomy is otherwise normal. ADV without liver bypass seems to have a more favorable prognosis if it is not associated with other malformations.

Aneuploidy↗
PubMed2002

CT imaging of pulmonary lobar interstitial emphysema in a spontaneous breathing preterm infant.

Pulmonary interstitial emphysema (PIE) is a well-recognized severe complication of neonatal respiratory distress syndrome (RDS). However, its occurrence under spontaneous breathing conditions has been described rarely. We present a case of PIE of the left upper lung lobe in an extremely low birth weight infant. Recurrent episodes of spontaneous pneumothorax led to the diagnosis, which was confirmed by histopathology. Plain chest X-ray did not show typical signs of PIE, whereas extra-alveolar air accumulation could be visualized by helical computed tomography (CT)-scan. We stress the role of predispositional factors increasing the risk of PIE development in spontaneous breathing preterm infants.

Adult↗
PubMed2001

[Congenital cystic adenomatoid malformation--clinical spectrum and management].

Congenital cystic adenomatoid malformation (CCAM) is one of the most frequent dysplasias of the lung. Diagnosis is often suspected in utero and urges obstetricians, pediatricians, and pediatric surgeons to make appropriate management decisions as to an optimal management for the affected patients. We report on a preterm baby with a gestational age of 33 weeks, suffering from hydrops fetalis and postnatal respiratory distress syndrome, a two-year old boy with clinical signs of a foreign body aspiration, and a seven-year old boy with a funnel chest. In each case, surgical resection was performed, the histology revealing CCAM. Our case report describes the broad clinical spectrum of CCAM. An algorithm is presented, helping to make diagnostic and therapeutic decisions.

Algorithms↗
PubMed1999

Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene. Mutations in brief no. 227. Online.

The diagnosis of Peutz-Jeghers syndrome is based on the occurrence of hamartomatous gastrointestinal polyps and perioral pigment spots. In view of the development of hamartomatous polyps in several syndromes and the variability of pigment spots in Peutz-Jeghers patients, identification of affected individuals is difficult. Recently, germline mutations in the STK11 gene have been reported as a molecular cause of Peutz-Jeghers syndrome. We present four novel inactivating mutations identified by direct sequencing of all 9 exons of the STK11 gene in 4 patients suggestive of Peutz-Jeghers syndrome: three frameshift mutations (125-137del; 474-480del; 516-517insT) and one nonsense mutation (Q220X). Our data obtained in these patients and in those reported previously emphasize the diagnostic value of histological discrimination between different types of hamartomatous polyps and of molecular analysis, particularly in cases with no family history of the disease.

AMP-Activated Protein Kinase Kinases↗
PubMed1999

First-trimester fetal heart block: a marker for cardiac anomaly.

BACKGROUND: Fetal heart block in the second and third trimesters may be caused by transplacental passage of auto-antibodies or cardiac defects. Little is known about the etiology of first-trimester fetal heart block. MATERIALS AND METHODS: Fetal heart block was diagnosed in four patients (negative antibody serology) referred for first-trimester sonographic evaluation of increased fetal nuchal fold thickness with bradycardia. Two-dimensional echocardiography was complemented by color Doppler flow imaging of the fetal heart. Fetal arrhythmia was verified by M-mode, pulsed wave Doppler and/or color M-mode echocardiography. RESULTS: All fetuses had congenital heart disease, atrioventricular valve regurgitation, heart block and edema. Autopsy confirmed heterotaxy in three cases (left atrial isomerism with atrial septal defect; left isomerism with double-outlet right ventricle, great artery malposition and ventricular septal defect. The third case had dextrocardia with atrioventricular canal defect and the fourth case dextrocardia with great artery transposition. CONCLUSION: First-trimester fetal bradycardia may result from heart block of the type associated with complex congenital heart disease. Accelerated edema formation in this setting may be the basis of nuchal edema formation. First-trimester fetal echocardiography offers the potential for early diagnosis and intervention in these cases with poor prognosis.

Adult↗
PubMed1998

[Duplication of the stomach as a rare cause of cystic epigastric tumor].

Duplications of the gastrointestinal tract are congenital anomalies seen in about 0.2% of all children. These include the rare gastric duplications. Latter diagnosis is usually made in the first months after birth on recurrent vomiting by detection of an abdominal tumor. The most important imaging modality is ultrasonography. The case of a prematurely born child weighing 1900 g is presented in whom at the age of three weeks a gastric duplication of the greater curvature was diagnosed and who was successfully treated by resection. The postoperative follow-up for 24 months was uncomplicated.

Cysts↗
PubMed1997

Results of chromosomal analysis in fetuses with cardiac anomalies as diagnosed by first- and early second-trimester echocardiography.

Chromosomal analyses were performed in 36 fetuses with cardiac anomalies diagnosed by echocardiography at 11 + 1 to 15 + 6 weeks of gestation. Karyotyping was successful in 35 cases and 17 (48.6%) had anomalies, including five with Turner's syndrome, seven with trisomy 18, four with trisomy 21 and one with triploidy. The commonest cardiac anomaly observed in trisomy 21 was a complete atrioventricular canal; in trisomy 18 was ventricular septal defect; in Turner's syndrome was a hypoplastic aortic arch in combination with hypoplasia of the left ventricle and left ventricular outflow tract; and in the case of triploidy was a ventricular septal defect. These findings confirm the opinion that, in fetuses with chromosomal anomalies, there is a high incidence of cardiac defects. Furthermore, there is a distinct pattern of cardiac defects associated with each chromosomal anomaly.

Amniocentesis↗
PubMed1993

Early diagnosis of fetal congenital heart disease by transvaginal echocardiography.

Fetal echocardiography was performed using a high-frequency vaginal ultrasound probe in 114 singleton pregnancies between 11 and 16 weeks of gestation. The four-chamber view with both atria, atrioventricular valves and ventricles as well as the origin and double-crossing of aorta and pulmonary trunk could always be demonstrated from the 13th week onwards. In 12 of 13 cases, cardiac malformations were diagnosed in the first trimester. Only in one case was transabdominal echocardiography necessary at 20 weeks to make the diagnosis. In several cases, however, additional malformations were overlooked, in particular anomalies of the great arteries, such as coarctation of the aorta. Therefore, the accuracy of second-trimester transabdominal echocardiography is markedly higher. Because of the lower diagnostic accuracy, the high costs of equipment and the high training demanded of the examiner, first-trimester transvaginal echocardiography should be restricted to the high-risk fetus, i.e.: (1) Cases with other fetal anomalies very often associated with cardiac defects, such as nuchal edema and hygroma, non-immune hydrops, omphalocele, situs, inversus, or persisting arrythmia; (2) High-risk families with one or more first-degree relatives with cardiac defects are either inherited by Mendelian rules alone, or as part of a rare syndrome; and (3) In pregestational diabetes of the mother.Thus, many severe cardiac defects can be detected or excluded in the first trimester, reducing maternal anxiety. In these high-risk cases, second-trimester echocardiography using the transabdominal route should always be performed because of its distinctly higher diagnostic accuracy.

Journal Article↗
PubMed1993

Steinfeld syndrome: report of a second family and further delineation of a rare autosomal dominant disorder.

We report on a fetus with alobar holoprosencephaly, microphthalmia, midline cleft lip and palate, absent nose, dysplastic ears, radial defects, pentalogy of Fallot, unilateral renal aplasia, absent gallbladder, vertebral anomalies, and absence of ribs. The father had a cleft palate, bilateral colobomas of the iris and retina, a bifid uvula, vertebral anomalies, and unilateral congenital hearing loss. His sister had a cleft lip. On the basis of this family and the family reported by Steinfeld [1982], this malformation syndrome can be defined as a rare autosomal dominant syndrome whose main component manifestations are holoprosencephaly, predominantly radial limb deficiency, heart defects, kidney malformations, absence of gallbladder, and vertebral anomalies.

Abnormalities, Multiple↗
PubMed1991

Prenatal diagnosis of atrioventricular canal malformations with up-to-date echocardiographic technology: report of 14 cases.

Fourteen fetuses with atrioventricular canal malformations were examined by two-dimensional echocardiography, pulsed-wave Doppler echocardiography, and color Doppler flow mapping. Eleven fetuses had complete and three fetuses had partial atrioventricular canal malformations. Nonimmune hydrops fetalis was associated with six cases, and fetal arrhythmia was seen in three cases. With two-dimensional echocardiography, the atrioventricular canal malformations could be diagnosed accurately. The inclusion of color Doppler flow mapping, however, provided additional hemodynamic information that was important from the prognostic point of view. Incompetence of atrioventricular valves could be demonstrated in 10 of 14 cases by Doppler echocardiography. In nine cases, detailed Doppler echocardiographic evaluation of the regurgitation jet was possible. The proportion of systolic time during which atrioventricular valve insufficiency was demonstrated was related to the occurrence of nonimmune hydrops fetalis. When insufficiency of atrioventricular valves was associated with hydrops (four cases), a pansystolic insufficiency was always present. In cases without hydrops (five), regurgitation was confined to early systole. Thus a reliable method for semiquantitative evaluation of the degree of insufficiency seems to have been found. Moreover, an association appeared to exist between the occurrence of hydrops fetalis and the proportion of atrial area that was taken up by regurgitant jet area, as determined by planimetry in the four-chamber view. Prenatal diagnosis was confirmed by autopsy or neonatal cardiac evaluation. Only one neonate survived in our series. Two were stillborn, four died during the neonatal period, two died during infancy, and pregnancy was electively terminated prematurely in five cases. Eight fetuses were found to have a karyotypic abnormality.

Adult↗