Heterogenous myopathic background of left ventricular hypertrabeculation/noncompaction.
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Biomedical subjects
Publications and source records attributed to Claudia Stöllberger.
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Cardiac involvement (CI) in form of myocardial thickening in a patient with genetically confirmed facioscapulohumeral muscular dystrophy (FSHMD) has not been reported. The patient is a 50-year-old male with a tandem repeat size of 17 and 14 kb in the D4Z4 locus on chromosome 4q35. The clinical cardiologic investigation was normal. Blood pressure was 150/90 mm Hg. Funduscopy, 24-hour ambulatory ECG, and 24-hour blood pressure monitoring were normal. ECG showed incomplete right bundle branch block, ST elevation in V2-V4, tall T waves in V3-V5, and hypertrophy signs. Echocardiography revealed left ventricular myocardial thickening of the posterior wall (11.7 mm) and the septum (15.5 mm). In conclusion, CI in genetically confirmed FSHMD may manifest not only as ECG abnormalities but also as left ventricular myocardial thickening.
Left ventricular hypertrabeculation/noncompaction (LVHT) is reported to be associated with embolism. This retrospective study assessed the number of strokes/embolisms in 62 patients with LVHT and in 62 control patients matched with regard to age, sex and left ventricular systolic function. The incidence of strokes or embolism was 10% in patients with LVHT and 15% in controls. LVHT by itself does not seem to be a risk factor for stroke or embolism and thus is not an indication for oral anticoagulation. However, if LVHT is associated with systolic dysfunction, oral anticoagulation should be considered.
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BACKGROUND: Patients with atrial fibrillation (AF) have a higher mortality and risk of stroke/embolism than patients with sinus rhythm. HYPOTHESIS: The aim of the study was to assess the association of clinical and echocardiographic characteristics with mortality and stroke/embolism and the use of antithrombotic medication in the year 2000 in patients who participated 1990-1995 in the Embolism in Left Atrial Thrombi (ELAT) study. METHODS: The study included 409 outpatients with nonrheumatic AF (62 +/- 12 years, 36% women, 39% intermittent AF). Patients with thrombi received anticoagulation, patients without thrombi aspirin until follow-up in 1995; thereafter, anticoagulation according to clinical risk factors was recommended. Primary events were death and secondary events were stroke/embolism. All patients were contacted during the year 2000. RESULTS: Mean follow-up was 102 months. Mortality was 4%/year; the cause of death was cardiac (n = 84), fatal stroke (n = 26), malignancy (n = 23), sepsis (n = 5), and unknown (n = 24). Multivariate analysis identified age (p < 0.0001), heart failure (p = 0.0013), and reduced left ventricular systolic function (p = 0.0353) as predictors of mortality. Stroke/embolism occurred in 83 patients, with a rate of 3%/year. Multivariate analysis identified age (p = 0.0006) and previous stroke (p = 0.0454) as predictors of stroke/embolism. In the year 2000, 51 (21%) of the 247 surviving patients received no antithrombotic medication, 88 received (36%) oral anticoagulants, 102 (41%) acetylsalicylic acid, and 6 (2%) low-molecular heparin. CONCLUSIONS: Therapy for heart failure and oral anticoagulation in AF should be seriously considered, especially in elderly patients and in those with previous stroke.
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AIMS: Stroke patients with atrial fibrillation (AF) have a poorer neurological outcome than stroke patients without AF. Whether stroke patients with AF also have a higher rate of medical complications is unknown. The aim of the study was to compare the in-hospital course of acute stroke patients with and without AF. METHODS AND RESULTS: The Austrian Stroke registry was a prospective multi-centre study involving 57 medical departments documenting the hospital course of consecutive stroke patients from June 1999 to October 2000. AF was diagnosed in 304 (31%) of 992 patients. Patients with AF were older (79 versus 75 years, p < 0.0004) than no-AF patients. There were more cases of pneumonia (23% versus 9%, p < 0.0004), pulmonary oedema (12% versus 6%, p < 0.0004) and symptomatic intracerebral haemorrhage (8% versus 2%, p < 0.0004) in AF compared to no-AF. In-hospital mortality was higher in AF (25% versus 14%, p < 0.0004), and neurological outcome was poorer (65 versus 90 Barthel index, p < 0.0004). On multivariable logistic regression analysis, however, AF was no predictor for mortality, but a Barthel index of zero (odds ratio 5.30, 95% CI 3.10-9.08, p < 0.0001), a National Institutes of Health Stroke Scale > 21 or comatose (odds ratio 3.13, 95% CI 2.26-4.32, p < 0.0001), age > 75 years (odds ratio 3.15, 95% CI 1.85-5.37, p < 0.0001), heart rate > 100 min(-1) (odds ratio 2.15, 95% CI 1.26-3.66, p = 0.0049), obstructive pulmonary disease (odds ratio 2.58, 95% CI 1.03-6.48, p = 0.0442) and creatinine > 125 micromol/l (odds ratio 1.84, 95% CI 1.00-3.37, p = 0.0479). CONCLUSION: Stroke in AF is associated with a poor prognosis, an increased rate of medical and neurological complications and a higher in-hospital mortality than in no-AF.
Sudden unexplained/unexpected death in epilepsy (SUDEP), with an incidence of 0.35-9.3/1000 patient-years depending on the severity of epilepsy, remains a diagnostic and therapeutic challenge. Potential pathomechanisms comprise cardiac arrhythmia, due to myocardial ischemia, electrolyte disturbances, arrhythmogenic drugs, or transmission of the epileptic activity via the autonomic nervous system to the heart, and central or obstructive apnea. In most studies on SUDEP, data are lacking about the family and patient's own clinical history, cardiovascular symptoms, concomitant diseases and prior findings. Whether arterial hypertension, diabetes, hypercholesterolemia, other neurologic disorders, lung diseases, smoking or electrolyte disturbances are risk factors for SUDEP is unknown. Whereas cardiac dysfunction during seizures has been documented by electrocardiography, and cardiac abnormalities are found in up to 33% of SUDEP cases autoptically, investigations between seizures found only little cardiac abnormalities. More knowledge about the cardiovascular and pulmonary status of epileptic patients during, immediately after and between seizures is needed, which may contribute to better understand and possibly prevent SUDEP by measures like "cardioprotective" drugs, respiratory therapy or implantation of a cardioverter/defibrillator.
BACKGROUND: Left ventricular hypertrabeculation/noncompaction (LVHT) is frequently associated with neuromuscular disorders (NMD). It is unknown, whether LVHT patients differ according to the presence or absence of NMD. Aim of the study was to assess, if clinical, ECG or echocardiographic findings differ between LVHT patients with and without NMD. METHODS: Included were all patients, in whom LVHT was diagnosed between June 1995 and February 2003 in one echocardiographic laboratory. All patients underwent a cardiologic examination and were invited for a neurologic investigation. RESULTS: Of 77 patients with LVHT (19 female, mean age 52 years), 59 were investigated neurologically. Eleven were neurologically normal, 21 had a definite NMD (metabolic myopathy, n=15; Leber's hereditary optic neuropathy, n=3; myotonic dystrophy, n=2 and Becker muscular dystrophy, n=1). The remaining 27 had a NMD of unknown etiology. Neurologically normal patients had more often anginal chest pain than patients with definite NMD (64% vs. 14%, P=0.0042) or NMD of unknown etiology (64% vs. 26%, P=0.0157). Neurologically normal patients were more often in NYHA class 0 or I than patients with NMD of unknown etiology (64% vs. 26%, P=0.0289) and had a thinner interventricular septum than patients with NMD (10.6 mm vs. 12.8 mm, P=0.0253). CONCLUSIONS: Cardiac abnormalities are hardly different between patients with and without NMD.
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