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Biomedical subjects

C Stöllberger

Publications and source records attributed to C Stöllberger.

At least 55 records · Page 3Linked to original sources
PubMed2001

Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy.

Myocardial thickening and isolated left ventricular abnormal trabeculation (ILVAT) have not been described in patients with Leber's hereditary optic neuropathy (LHON) before. Wolff-Parkinson-White syndrome, myocardial thickening and ILVAT were found by electrocardiogram, echocardiography and cardiac magnetic resonance imaging in a 48-year-old man with bilateral, severely reduced visual acuity since age 24 years, palpitations since age 43 years and lower limb muscle cramps since age 47 years. Because ILVAT is frequently associated with respiratory chain disorders, neurological investigations were initiated, revealing the primary LHON mutation G3460A in lymphocytic mitochondrial DNA. On the basis of the clinical and genetic data, LHON was diagnosed in the index patient, but also in the patient's brother who showed ILVAT as well. Wolff-Parkinson-White syndrome, myocardial thickening and ILVAT may be rare manifestations of LHON.

Arrhythmias, Cardiac↗
PubMed2001

Cardiac involvement in myotonic dystrophy, Becker muscular dystrophy and mitochondrial myopathy: a five-year follow-up.

OBJECTIVE: To assess the progression of cardiac involvement (CI), defined as 'definite', 'possible' or 'absent', based on history, clinical examination, electrocardiography, 24 h ambulatory electrocardiography and transthoracic echocardiography in patients with myotonic dystrophy (MD), Becker muscular dystrophy (BMD) and mitochondrial myopathy (MMP) over five years. DESIGN: An investigational, follow-up study. SETTING: A neurological and cardiological department in Austria. PATIENTS: Thirteen patients aged 29 to 60 years with MD, five patients aged 23 to 68 years with BMD and 10 patients aged 24 to 73 years with MMP. MAIN OUTCOME MEASURES: Muscular disability score, CI score and sum of abnormality score. RESULTS: Five patients (two with MD, one with BMD, two with MMP) died during the observational period, one died presumably from rhythm abnormalities. One patient refused to join the follow-up. At baseline/five years later, CI was 'definite' in 12/10, four/four and six/three; 'possible' in one/one, one/zero and three/four; and 'absent' in zero/zero, zero/zero and one/zero of the patients with MD, BMD and MMP, respectively. The most frequent abnormal investigations at baseline/five years later were the history (BMD/MD), the electrocardiogram (MD/MD) and the echocardiography (MMP/BMD). The mean number of abnormalities per patient with MD, BMD and MMP at baseline/five years later was 4.5/4.8, 5.6/8.3 and 4.1/3.4, respectively. CONCLUSIONS: CI is a frequent finding in patients with MD, BMD and MMP, but progression of CI within five years is found only in single cases. Patients with MD, BMD or MMP should be cardiologically investigated and treated only if CI becomes symptomatic, or if severe electrocardiographic or echocardiographic abnormalities are present.

Adult↗
PubMed2000

Multivariate analysis-based prediction rule for pulmonary embolism.

The diagnosis of pulmonary embolism (PE) is still an unresolved problem. The aim of this prospective observational study was to derive and validate a prediction rule (PEscore) by which PE can be diagnosed by easily obtainable and rapidly available investigations. Included were consecutive patients with a clinical suspicion of PE admitted to a community hospital. Risk factors and clinical and instrumental investigations were registered. PE was diagnosed by angiography, scintigraphy, or autopsy. In 168 patients, PE was either diagnosed (angiography, n = 28; autopsy, n = 18) or excluded (angiography, n = 12; scintigraphy, n = 99; autopsy, n = 11). Based on the results of clinical and instrumental findings, a PEscore was derived by a multiple regression analysis, calculated as: [0.29 x proven leg vein thrombosis (0 = no, 1 = yes)] + [0.25 x ECG right heart strain (0 = no, 1 = yes)] + [0.22 x neck vein distension (0 = no, 1 = yes)] + [0.20 x dyspnoea (0 = no, 1 = yes)] + [0.13 x suspicious chest X-ray (0 = no, 1 = yes)] - [0.17 (constant)]. The PEscore was tested further in 139 subsequent cases. In these patients, the PEscore was 0.65+/-0.17 (diagnosed PE, n = 47) and 0.18+/-0.17 (excluded PE, n = 92), respectively (p = 0.0001). Depending on a given PE-score, the level of probability of PE can be assessed. Calculation of the PEscore can be helpful in clinical decisions when PE is suspected.

Adult↗
PubMed2000

Cardiac involvement in primary myopathies.

Simultaneous or temporarily staggered affection of both the skeletal as well as the cardiac muscle (cardiac involvement, CI) is a frequent finding in primary myopathies (MPs). CI leads to impulse generation defects, impulse conduction defects, thickened myocardium, left ventriculalr hypertrabeculation, dilatation of the cardiac cavities, secondary valve insufficiency, reduction of coronary vasodilative reserve, intracardial thrombus formation, and heart failure with systolic and diastolic dysfunction. CI has been found in Duchenne muscular dystrophy (MD), Becker MD, Emery-Dreifuss MD, facioscapulohumeral MD, sarcoglycanopathies, myotubular congenital MD, myotonic dystrophies type 1 and 2, proximal myotonic myopathy, myoadenylate deaminase deficiency, glycogenosis type II, III, IV, VII and IX, carnitine deficiency, mitochondriopathy, desmin MP, nemaline MP, central core disease, multicore MP, congenital fiber-type disproportion MP, Barth syndrome, McLeod syndrome and Bethlem MP. Patients with any of the above-mentioned myopathies should be cardiologically investigated as soon as their diagnosis is established, since sufficient cardiac therapy improves CI in MPs and since management of these patients is influenced by the degree of CI.

Cardiomyopathies↗
PubMed2000

Isolated left ventricular abnormal trabeculation is a cardiac manifestation of neuromuscular disorders.

OBJECTIVES: Isolated left ventricular abnormal trabeculation (ILVAT) is defined as >3 coarse trabeculations of the left ventricular wall, apically to the papillary muscles, in hearts without congenital malformations. The aims of the study were to assess by echocardiography the prevalence of ILVAT, look for cardiac findings in ILVAT and find out if ILVAT is associated with neuromuscular disorders. DESIGN AND RESULTS: In the course of 3 years, ILVAT was found in 15/17, 648 patients (0.08%). Twelve patients had heart failure, all had ECG abnormalities. All patients had neuromuscular disorders. A definite diagnosis could be established in 10 patients (metabolic myopathy, n = 9; Becker's muscular dystrophy, n = 1). The remaining 5 patients refused further neurological investigations. CONCLUSIONS: ILVAT is a rare disorder associated with ECG abnormalities, heart failure and neuromuscular disorders, which is a reason why both cardiologists and neurologists should be involved.

Adult↗
PubMed2000

Complex mitochondriopathy associated with 4 mtDNA transitions.

In a 33-year-old man, mitochondriopathy was diagnosed upon short stature, auditory impairment, gynaecomastia, hypogonadism, vertical ophthalmoplegia, cerebral atrophy, leucencephalopathy, cataract, hypertrabeculated left ventricle, hypothyroidism, diabetes mellitus, glomerulonephritis necessitating kidney transplantation, general wasting, polyneuropathy, abnormally high lactate levels on exercise, partially reduced cytochrome-c oxidase staining and abnormally structured mitochondria on muscle biopsy. Mitochondrial DNA (mtDNA) analysis revealed 1 novel (A15662G) and 3 known mtDNA transition(s) (T3398C, T4216C, G15812A) affecting the cytb and ND1 gene, respectively. Three of the patient's transitions were also detected in blood leukocytes of the patient's maternal grandmother, mother and brother. Mutant mtDNA was heteroplasmic at >75% in the patient's skeletal muscle.

Adult↗
PubMed1999

[The prognostic value of dobutamine stress echocardiography. A long-term follow-up study].

BACKGROUND AND OBJECTIVE: The prognostic value of dobutamine stress echocardiography in patients with suspected or known coronary heart disease has not exactly been assessed. Purpose of the study was the assessment of the prognostic value of DSE regarding cardiac events, especially in patients with a normal DSE finding. PATIENTS AND METHODS: 316 patients (168 men, 148 women, mean age 61 +/- 10 years), included in this follow-up study, underwent DSE between January 1994 and December 1996 to evaluate clinically suspected or known coronary heart disease. DSE was classified according to resting and stress echocardiography as either "normal-normal (NN)", "normal-ischemic (NI)", "abnormal-normal (AN)", "abnormal-ischemic (AI)" or "inconclusive (C)". Follow-up by telephone took place between June 1997 and April 1998. "Events" were survived myocardial infarction and death. "Interventions" were revascularisation procedures, either percutaneous transluminal coronary angioplasty (PTCA) with or without stenting or aortocoronary bypass surgery. RESULTS: In 161 patients, DSE was NN, NI in 27 patients, AN in 55 patients, AI in 54 patients and C in 19 patients. Mean follow-up duration was 28 months. Events occurred in 23 patients: survived myocardial infarction in 10, death in 13 persons. Interventions were carried out in 50 patients: PTCA with or without stenting in 19, aortocoronary bypass surgery in 31 persons. The event rate was significantly lower in patients with DSE classified as NN (P = 0.03 by log-rank) than in other groups. The intervention rate was significantly lower in the NN-group (P = 0.0001 by log-rank) than in the other groups, too. CONCLUSION: Patients with a normal rest echocardiography and DSE had a good prognosis in a long-term follow-up study.

Adult↗
PubMed1999

Isolated left ventricular abnormal trabeculation in adults is associated with neuromuscular disorders.

BACKGROUND: Isolated left ventricular abnormal trabeculation (ILVAT) is defined as > 3 coarse trabeculations of the left ventricular wall, apically to the papillary muscles, in hearts without congenital malformations. HYPOTHESIS: The aims of the study were to assess by echocardiography the prevalence of ILVAT, to confirm the diagnosis by cardiac magnetic resonance imaging (CMRI), to look for cardiac findings in ILVAT, and to determine whether ILVAT is familial and associated with neurological disorders. METHODS: During a 1-year period (July 1995 to July 1996) all patients in whom transthoracic echocardiography visualized ILVAT, were included in the study. The examination and measurements were performed according to established guidelines. RESULTS: During 1 year, ILVAT was found in 6 of 3,397 patients (0.2%). When applied, CMRI confirmed ILVAT. Four patients had heart failure, all had electrocardiographic (ECG) abnormalities. None of the investigated relatives showed ILVAT. One patient had Becker's muscular dystrophy, three had mitochondrial myopathy, one had polyneuropathy, and one had muscle wasting of unknown origin. CONCLUSIONS: Isolated left ventricular abnormal trabeculation is rare, visible on echocardiography and CMRI, associated with ECG abnormalities, sometimes with heart failure, and always with neuromuscular disorders. Thus, when ILVAT is found, the cardiologist should consider a neurology referral.

Adult↗
PubMed1999

[Antithrombotic therapy in atrial fibrillation and additional stroke/embolism risk factors. CORSurvey Study].

OBJECTIVES: To evaluate 1) how many patients with atrial fibrillation (AF) and heart failure were discharged from Austrian hospitals with antithrombotic therapy, 2) if the presence of risk factors for stroke/embolism (age > 65 years, arterial hypertension, diabetes, and previous stroke) influence the choice of antithrombotic therapy and if the presence of contraindications for oral anticoagulation (dementia, alcohol abuse) influence the choice of antithrombotic therapy, and 3) if there are differences among the types of departments in the use of antithrombotic therapy. PATIENTS: Included were 1566 patients (841 female, 725 male, mean age 76 years) with AF and heart failure. METHODS: At discharge, a questionnaire was completed including risk factors, contraindications for antithrombotic therapy, and antithrombotic medication. RESULTS: Oral anticoagulants (OAC) had 26% of the cases, acetyl salicylic acid (ASA) 31%, a combination of OAC and ASA 2%, and no antithrombotic therapy 41%. The risk factors age > 65 years, arterial hypertension, diabetes, and previous stroke did not influence the choice of antithrombotic therapy. Dementia but not alcohol abuse influenced the choice against OAC. The rate of OAC was higher in cardiological or cardiovascular rehabilitation clinics than in other departments. CONCLUSION: The results of this survey show that in medical practice the recommendations regarding antithrombotic therapy in atrial fibrillation are rarely considered, especially when additional risk factors are present.

Aged↗
PubMed1999

Subclinical skeletal muscle involvement in long-QT syndrome.

Deafness is said to be the only extracardiac manifestation of long-QT syndrome. Whether long-QT syndrome manifests in the skeletal muscle as well, has not been investigated so far. Six affected members of two families with long-QT syndrome without deafness (Romano-Ward syndrome) underwent a clinical neurological examination, nerve conduction studies and needle electromyography. The clinical neurological examination and nerve conduction studies were normal but abundant spontaneous activity (fibrillations and bursts of fibrillations) could be recorded from the right biceps brachii muscle (one patient) and the right abductor pollicis brevis muscle (all patients). Since all other causes were excluded, spontaneous discharges were interpreted to be related to the long-QT syndrome. In conclusion, long-QT syndrome does not seem to be confined to the heart but may involve the skeletal muscle subclinically as well.

Action Potentials↗
PubMed1999

Cardiac involvement in Werdnig-Hoffmann's spinal muscular atrophy.

Despite the increasing interest in cardiac involvement (CI) of neuromuscular disorders, only few data are available on CI in spinal muscular atrophy (SMA). We tried to determine the cardiac manifestations of SMA, their incidence rates and the necessity of cardiac therapy in patients with SMA and CI. Eight patients with SMA, aged 10-79 years, underwent clinical cardiologic examination, ECG, echocardiography and ambulatory ECG. The most frequent findings were angina pectoris, palpitations, exertional dyspnea, ST abnormalities, couplets, thickened myocardium and diastolic dysfunction. In conclusion, cardiac manifestations of SMA mainly comprise ECG abnormalities and thickened myocardium. CI in SMA frequently necessitates cardiac therapy.

Adolescent↗
PubMed1999

Hypothyroid myopathy with unusually high serum creatine kinase values.

Depending on the degree of hormone deficiency, skeletal muscle involvement may occur in hypothyroidism. Usually, hypothyroid myopathy is associated with creatine kinase values <5,000 U/l. We report a 54-year-old man suffering from increasing fatigability, hoarseness, gait disturbances and a creatine kinase of 9,000 (normal: <80 U/l). He presented with bradyphrenia, macroglossia, dysarthria, myxedema, monoparesis, reduced deep tendon reflexes and stocking-type sensory disturbances. Free triiodthyronine was 0.25 pg/ml (normal: 0.6-1.9 pg/ml), free thyroxine <0.1 ng/dl (normal: 0. 6-1.8 ng/dl) and the thyroid-stimulating hormone >48.0 (normal: 0. 1-4.0 IU). Clinical neurologic examination and electromyography were compatible with myopathy and polyneuropathy. Other causes of myopathy, except hypothyroidism, were excluded. After L-thyroxine therapy (1.7 microg/kg BW/day) during 3 months, the patient's symptoms and signs vanished, except for sensory disturbances, and creatine kinase values and electromyography became normal. Severe hypothyroidism may be associated with highly elevated creatine kinase and myopathy. Adequate therapy leads to complete recovery, including myopathy.

Creatine Kinase↗