[Acute pulmonary embolism: still a diagnostic and therapeutic challenge?] / Akute Lungenembolie: immer noch eine diagnostische und therapeutische Herausforderung?

BACKGROUND: Acute pulmonary embolism (PE) is a cardiovascular emergency with high mortality in which a rapid diagnosis and the early initiation of therapy is vital. In the present study patients with acute PE hospitalized at the Clinic Lippe in Detmold were characterized and their prognosis examined. METHODS: In our department at the hospital Detmold, all patients with acute PE admitted in 2012 and 2013 were documented with respect to the severity of PE, predisposing risk factors and diagnostic and therapeutic steps. RESULTS: A total of 170 patients with acute PE were documented of which 80 patients (47 %) had low, 70 patients an intermediate (41 %) and 20 a high risk (12 %). The main diagnostic tool was thoracic computed tomography (82 %). All patients initially received unfractionated or low-molecular weight heparin; systemic intravenous fibrinolysis was carried out in 3 % of patients (intermediate risk n = 1, high risk n = 4). Nineteen percent (n = 13) of the patients at intermediate and 30 % (n = 6) of patients at high risk received local intrapulmonary fibrinolysis. Overall, the mortality rate in hospital was 10 % (low risk 2.5 %; intermediate risk 7 %; high risk 58 %). All 5 patients who received systemic emergency lysis died. One (5.3 %) of the 19 patients at intermediate risk, undergoing local intrapulmonary fibrinolysis, died. CONCLUSION: In acute PE a rapid diagnosis and the initiation of an adequate therapy remains a big challenge. Further studies are required to evaluate if aggressive treatment options might reduce mortality especially among patients at intermediate or high risk.

Left atrial thrombi and spontaneous echo contrast in patients with atrial fibrillation : Systematic analysis of a single-center experience.

BACKGROUND: Atrial fibrillation is associated with a high risk for thromboembolic events. Thrombi in the left atrial appendage and spontaneous echo contrast (SEC) correlate positively with this embolic risk. We studied the laboratory, echocardiographic, and epidemiologic parameters that could predict left atrial thrombi and the intensity of the SEC. PATIENTS AND METHODS: Between September 2013 and June 2015 we included 372 patients with atrial fibrillation before planned electrical cardioversion (transesophageal-guided strategy) in this study. After assessing the risk of stroke and bleeding (CHA2DS2-VASc and HAS-BLED scores), we measured the concentration of the D-dimer and B-type natriuretic peptide at the time of the transesophageal echocardiography as well as the left atrial volume and the ejection fraction during transthoracic echocardiography. RESULTS: The ejection fraction and the CHA2DS2-VASc score were identified as independent predictors of both left atrial thrombi and SEC, whereas the left atrial volume could only predict the intensity of SEC. In contrast to the results of other studies, the biomarkers in this study failed to predict the outcome. CONCLUSION: Only the echocardiographic and epidemiologic parameters were predictors of left atrial thrombi and SEC intensity, while the studied biomarkers had no predictive power. Using clinical data and transthoracic echocardiography, we can change the therapeutic strategy in high-risk patients.

[Treatment of coronary three-vessel disease in patients above 75 years]. / Therapie der koronaren Dreigefäßerkrankung bei Patienten über 75 Jahren.

BACKGROUND: Chronic ischemic heart disease take the first place in cause of death in Germany. The proportion of patients aged 75 years or older amounts more than 80 %. Due to their growing part of population the medical care of older patients becomes increasingly important. In this investigation patients aged ≥ 75 years with coronary three-vessel disease were characterized and various treatment strategies were compared. PATIENTS AND METHODS: This analysis was retrospective. The data of patients aged 75 years or older with three-vessel disease diagnosed by coronary angiography at the Klinikum Lippe Detmold between 2005 and 2007 were collected. Depending on the received therapy they were parted in three groups: optimal drug therapy (OMT), interventional - (PCI) and surgical revascularization (CABG). Patient characteristics as well as survival- and MACCE-rates during follow up were ascertained. Subgroup analyzes were performed for acute coronary syndrom (ACS) and stable coronary artery disease( CAD). RESULTS: The data of 434 patients with an average age of 79 years were documented. 139 (32.0 %) were assigned to the OMT- 189 (43.6 %) to the PCI- and 106 (24.4 %) to the CABG-group. Overall there was no significant difference between the three groups regarding mortality. In the subgroup of patients wit ACS (n = 180) mortality significantly increased in the OMT-group compared to the two invasive therapies (PCI (p = 0.029), CABG (p = 0.045)). The subgroup of patients with stable CAD showed no significant differences in mortality between the three types of therapy. CONCLUSIONS: Older patients benefit from an interventional or surgical revascularization in the context of ACS. In contrast, in elderly with stable CAD optimal medical therapy provides a reasonable alternative to invasive therapy without increase in mortality.

Characteristics, management modalities and outcome in chronic systolic heart failure patients treated in tertiary care centers: results from the EVIdence based TreAtment in Heart Failure (EVITA-HF) registry.

BACKGROUND: Limited data exist regarding baseline characteristics and management of heart failure with reduced ejection fraction (EF) in tertiary care facilities. METHODS: EVITA-HF comprises web-based case report data on demography, comorbidities, diagnostic and therapy measures, quality of life, adverse events and 1-year follow-up of patients hospitalized for chronic heart failure and an ejection fraction of less than 40%. RESULTS: Between February 2009 and June 2011, a total of 1,853 consecutive, hospitalized patients (pts) were included in 16 centers in Germany. Mean age was 70 years, 76% were male. Median EF was 30%, and 63% were in NYHA III/IV. Ischemic cardiomyopathy was present in 56%, history of hypertension in 76%, diabetes in 39%, impaired renal function in 33%, thyroid dysfunction in 12%, and malignoma in 7%. Sixty-eight percent of pts had a non-elective admission. Rhythm was sinus/atrial fibrillation or flutter/pacemaker in 64, 28 and 11%, respectively. Median heart rate amounted to 80 bpm, median blood pressure to 122/74 mmHg. LBBB was present in 26% of non-pacemaker pts. Eighteen percent had an ICD or CRT-D. Medication (admission vs. discharge) consisted of ACEI or ARB in 73 vs. 88%, ß-blocker in 71 vs. 89%, mineral corticosteroid receptor antagonist (MRA) in 32 vs. 57%, diuretics in 68 vs. 83% (p < 0.001 for each). Forty-two percent of pts received a specific treatment procedure beyond pharmacotherapy, of these 48% revascularization, 39% device therapy, 14% electrical cardioversion, 5% ablation procedures, 9 % valvular procedures, 6% iv inotropes, 1.8% IABP or LVAD implantation. At discharge, 33% of survivors had ICD- or CRT-D implants. One-year mortality amounted to 16.8%, and death or rehospitalization to 56%. NYHA class III/IV was found in 30% (p < 0.001 vs. index admission), general health status was improved in 45% and unchanged in 36% of patients. Eighty-five percent of pts took ACEI or ARB, 86% ß-blockers, 47% MRA, and 78% diuretics (p < 0.001 vs. index discharge for all). CONCLUSION: Patients with chronic heart failure and low ejection fraction represent an elderly and multimorbid population. While hospitalized, they experience a significant optimization of prognosis-relevant medication, revascularization and device therapy. After 1 year, mortality is moderate; drug adherence is high and NYHA status favourable. The EVITA-HF registry is able to reflect coherently the real-world management, efforts and follow-up in heart failure pts managed in tertiary care facilities.

Risk factors for clinical events at 1-year follow-up after drug-eluting stent implantation: results from the prospective multicenter German DES.DE registry.

BACKGROUND: Drug-eluting stents (DES) have substantially reduced target vessel revascularization (TVR) after percutaneous coronary interventions. Risk factors for clinical events need to be redefined with this treatment option. METHODS AND RESULTS: In the prospective DES.DE registry, baseline clinical and angiographic characteristics as well as in-hospital and follow-up events were recorded for all enrolled patients. Between October 2005 and May 2009, 21,774 patients receiving DES were enrolled at 98 DES.DE sites. The composite of death, myocardial infarction (MI) and stroke defined as major adverse cardiac and cerebrovascular events (MACCE) and TVR were predefined as primary endpoints. At 1-year follow-up rates for overall death, MI, stroke, MACCE, TVR and definite stent thrombosis were 2.7, 3.1, 1.4, 7.1, 11.5 and 0.6 %, respectively. Aside from well-known risk factors like age, diabetes mellitus and triple-vessel disease, stratification in patients with or without MACCE revealed atrial fibrillation, non-ST-segment elevation myocardial infarction, renal failure, impaired ejection fraction and peripheral vascular disease as strong predictors of MACCE at 1 year. CONCLUSION: Data collected in the DES.DE registry, reflecting the clinical practice in Germany, revealed favorable clinical outcomes after DES implantation in a real world setting but also identifying several high-risk populations.

[Acute hepatic failure after ingestion of mushrooms]. / Akutes Leberversagen nach Pilzingestion.

This report is about a married couple who were admitted to hospital suffering from gastrointestinal complaints after eating mushrooms. With the suspicion of poisoning with Amanita phalloides treatment started with elimination of the toxins, symptomatic therapy and specific therapy with silibinin. After quantitative determination of the Amanita toxins the patients were immediately transferred to a university hospital.Poisoning by the death cap mushroom is responsible for acute hepatic and often also renal failure and is accompanied by a high mortality. Clinical symptoms follow a three-phase course with gastrointestinal complaints, an asymptomatic interval and finally the hepatorenal phase. Even in suspected cases of intoxication, treatment should be started by antidote therapy with silibinin.

Certoparin versus UFH to prevent venous thromboembolic events in the very elderly patient: an analysis of the CERTIFY study.

INTRODUCTION: There is an exponential rise of thromboembolic risk with age because of co-morbidities, immobility and pharmacotherapy. We aimed to investigate the benefits and risks of heparin prophylaxis in very elderly patients ≥80 years and the type of heparin used in a subgroup analysis of the CERTIFY trial. PATIENTS/METHODS: 3,239 patients were randomized to 3,000 U aXa o.d. certoparin or 5,000 IU t.i.d. unfractionated heparin (UFH) for 8-20 days. RESULTS: Patients ≥80 years (n=1,365) were more likely to be female, had a lower mean bodyweight, were more frequently using antiplatelets and had a GFR below 30 ml/min/1.73 m(2) more often than patients <80 years (n=1,875). The combined endpoint of proximal DVT, symptomatic non-fatal PE and VTE related death was experience by 5.26% of patients ≥80 years versus 3.51% in younger patients (OR 1.53; 95%CI 1.05-2.21; p=0.03). There were no significant differences in both minor (OR 1.11; 95%CI 0.75-1.62) and major (OR 2.53; 95%CI 0.93-6.86) bleeding risks. Certoparin and UFH were equally effective in reducing thromboembolic risk in either age group. The risk of any (OR 0.45; 95%CI 0.26-0.79) and minor bleeding (OR 0.42; 95%CI 0.23-0.78) was reduced with certoparin in the very elderly only. There were more adverse events in elderly patients (OR 1.26; 95%CI 1.1-1.46), but rates were otherwise comparable. CONCLUSIONS: The analysis confirmed the increased thromboembolic risk in very elderly patients, but demonstrated no increased bleeding risk. Certoparin and UFH were equally effective and safe with a reduced risk of minor bleeding complications with certoparin in the very elderly.

Leisure sport activity as a trigger for acute coronary events in men without known coronary artery disease : a single-center case study.

INTRODUCTION: Leisure sport activity (LSA) is gaining in importance among middle-aged and senior men in the German population. There is a consensus that regular aerobic exercise at moderate intensities and increased physical fitness are associated with a reduced risk of fatal and nonfatal acute cardiac events (ACE) in middle-aged individuals. However, vigorous exercise (VE) can acutely and transiently increase the risk of an ACE in susceptible individuals. There is an ongoing discussion as to whether preparticipation screening may prevent such events. This case study characterizes patients participating in LSA who had not been involved in preparticipation screening prior to their ACE. METHODS: In the period between June 2003 and July 2009, all consecutive patients with an ACE presenting at the catheter laboratory were retrospectively screened for VE that had occurred during LSA. All 13 men with previously unknown coronary artery disease (CAD) had exercised regularly. All patients underwent coronary angiography. This study characterized clinical parameters, duration of LSA, coronary diagnostic procedure, as well as therapeutic intervention. RESULTS: In seven patients, cardiovascular (CV) risk factors comprised arterial hypertension in seven, hyperlipidemia in seven, smoking or former smoking in two, family history of CV disease in four, and previous peripheral atherosclerotic disease in two. The culprit lesion was identified in seven patients in the left anterior descending artery, in four in the right coronary artery, and in two in the circumflex artery. The mean left ventricular ejection fraction was 65% (45-84). The mean complexity of the lesions using the syntax score was 17 (2-36). PCI was performed in 12 patients, while one patient was transferred for coronary artery bypass grafts. All patients survived their ACE. CONCLUSION: This case study supports the data indicating that ACE in men with previously unknown CAD is not uncommon during LSA. This patient cohort provides data on a group of patients who might benefit from preparticipation screening.

CERTIFY: prophylaxis of venous thromboembolism in patients with severe renal insufficiency.

Patients with severe renal insufficiency (sRI) have been suggested to be at an increased risk of bleeding with low-molecular-weight heparins (LMWH). We aimed at assessing the benefits and risks of certoparin in comparison to unfractionated heparin (UFH) in these patients. In this subgroup analysis of the CERTIFY trial, acutely ill, non-surgical patients ≥70 years received certoparin 3,000U aXa o.d. or UFH 5,000 IU t.i.d. One hundred eighty-nine patients had a glomerular filtration rate (GFR) ≤30 ml/min/1.73 m2, 3,050 patients served as controls. Patients with sRI had a mean age of 85.9 ± 6.6 years (controls 78.4 ± 6.0) and were treated for a mean of 9.3 ± 3.7 days (9.9 ± 4.3). Thromboembolic event rates were comparable (4.55 vs. 4.21%; OR1.08; 95%CI 0.5-2.37) but bleeding was increased in sRI (9.52 vs. 3.54%; OR2.87; 95%CI 1.70-4.83). The incidence of the combined end-point of proximal DVT, symptomatic non-fatal PE and VTE related death was 6.49% with certoparin and 2.60% with UFH (OR2.60; 95%CI 0.49-13.85). There was a decrease in total bleeding with certoparin (OR0.33; 95%CI 0.11-0.97), which was non-significant in patients with GFR >30 ml/min/1.73 m2. In two multivariable regression models certoparin and immobilisation <10 days were associated with less bleeding while a GFR ≤30 ml/min/1.73 m2 was associated with increased bleeding. A total of 11.3% of certoparin- and 18.5% of UFH-treated patients experienced serious adverse events (14.8 in patients with a GFR ≤30 vs. 5.6% vs. >30 ml/min/1.73 m2). In conclusion, certoparin 3,000U anti Xa o.d. was as efficacious as 5,000 IU UFH t.i.d. in patients with sRI but had a reduced risk of bleeding.

[Renal artery stenosis: angioplasty or drug treatment?]. / Nierenarterienstenose: Intervention oder medikamentöse Behandlung?

BACKGROUND AND OBJECTIVE: Angioplasty in patients with renal artery stenosis aims at reducing blood pressure and at improving kidney function. Its efficacy has however been questioned by recent published data. It was the aim of this retrospective study to compare angioplasty with medical treatment in an unselected patient population. METHODS: Data on 109 patients were retrospectively analysed. This cohort included all those patients admitted to the Lippe-Detmold Hospital between 1992 and 2008 for renal artery stenosis. The data included blood pressure, creatinine-based calculated glomerular filtration rate (cGFR), any renal dialysis, cardiovascular risk factors, events and survival time after transluminal renal angioplasty or drug treatment, respectively. RESULTS: Patients who had undergone angioplasty were younger (p = 0.04), had less cardiovascular co-morbidity (p < 0.01), but a higher degree of stenosis (p < 0.01). After a median follow-up of 32.5 (angioplasty) and 36.0 months (drug treatment), respectively, a significant decrease of cGFR was recorded in drug treated patients (- 16.2 ml/min, 95 %, CI - 25.7 to - 6.7) but not in the angioplasty group (- 4.5 ml/min, 95 %, CI - 13.5 to 4.5). There were no other significant differences were not observed. CONCLUSION: Younger patients with a high degree of renal artery stenosis but without generalized atherosclerosis more frequently underwent angioplasty in clinical practice. The smaller post-angioplasty reduction in the loss of renal function in this group needs to be validated in a prospective, randomized study.

The effect of optimal medical therapy on 1-year mortality after acute myocardial infarction.

OBJECTIVES: Five drug classes have been shown to improve the prognosis of acute myocardial infarction in clinical trials: aspirin, beta-blockers, statins, renin angiotensin system (RAS) blockers and thienopyridines. We aimed to assess whether the benefits of combining these drugs (termed optimal medical therapy, OMT), will result in a reduction of mortality in clinical practice. DESIGN: Nationwide registry SETTING: Hospitals with a cardiology unit or internal medicine department. PATIENTS: 5353 patients with acute myocardial infarction. At hospital discharge 89% received aspirin, 90% beta-blockers, 84% statins, 81% RAS blockers, 70% a thienopyridine and 46.2% OMT. INTERVENTIONS: Pharmacotherapy MAIN OUTCOME MEASURES: OR with 95% CI for mortality from myocardial infarction were calculated and adjusted for patient risk at baseline. RESULTS: Total mortality was reduced by 74% in patients receiving OMT (adj OR 0.26; 95% CI 0.18 to 0.38) versus patients receiving one or no drug. This was consistent in subgroups defined by STEMI/NSTEMI, diabetes and gender. Mortality was also reduced in patients receiving 2-4 drugs (adj OR 0.49; 95% CI 0.35 to 0.68), diabetic patients being the only subgroup with no significant effect. Analyses on the relative importance of either component revealed that withdrawal of beta-blockers (adj OR 0.63; 95% CI 0.34 to 1.16) and/or a combination of aspirin/clopidogrel (adj OR 0.59; 95% CI 0.20 to 1.17) abolished the risk reduction conferred by OMT. CONCLUSIONS: OMT over 1 year was associated with a significantly lower mortality of patients with acute myocardial infarction in clinical practice. However OMT is provided to less than half of eligible patients leaving room for substantial improvement.

A randomized, double-blind study of certoparin vs. unfractionated heparin to prevent venous thromboembolic events in acutely ill, non-surgical patients: CERTIFY Study.

BACKGROUND: In medically ill patients, no contemporary double-blind head-to-head evaluation of low molecular weight heparin vs. unfractionated heparin (UFH) for the prevention of venous thromboembolic events is available. OBJECTIVES: To compare the efficacy and safety of certoparin with those of UFH. PATIENTS/METHODS: In this double-blind, randomized, controlled trial, acutely ill, non-surgical patients aged > or = 70 years were randomized to certoparin (3000 U of anti-factor Xa once daily) or to UFH (5000 IU t.i.d.). The primary endpoint was the composite of proximal deep vein thrombosis as assessed by bilateral compression ultrasonography, symptomatic non-fatal pulmonary embolism and venous thromboembolism-related death, and was assessed by a blinded central adjudication committee. Non-inferiority margins were set at 1.8 for the odds ratio (OR) and 3.45% for the absolute difference. RESULTS: Three thousand two hundred and thirty-nine patients aged 78.8 + or - 6.3 years were treated for 9.1 + or - 3.4 days. The incidence of the primary endpoint was 3.94% in the certoparin group and 4.52% in the UFH group, with a difference in proportions of - 0.59% [95% confidence interval (CI) -2.09 to 0.92; P < 0.0001 for non-inferiority], and an OR of 0.87 (95% CI 0.60-1.26; P = 0.0001 for non-inferiority). Major bleeding occurred in 0.43% of certoparin-treated patients and 0.62% of UFH-treated patients (OR 0.69; 95% CI 0.26-1.83). Any bleeding occurred at 3.20% in certoparin-treated patients vs. 4.58% in UFH-treated patients (OR 0.69; 95% CI 0.48-0.99; P < 0.05), and 5.73% of certoparin-treated patients and 6.63% of UFH-treated patients experienced serious adverse events. All-cause mortality was 1.27% in certoparin-treated patients and 1.36% in UFH-treated patients. CONCLUSIONS: In acutely ill, non-surgical elderly patients, thromboprophylaxis with certoparin (3000 U of anti-FXa once daily) was non-inferior to 5000 IU of UFH t.i.d., with a favorable safety profile.

The management of chronic total coronary occlusions.

Although recent consensus has clearly defined chronic total occlusions (CTO), attempted percutaneous coronary intervention (PCI) remains low. Histopathologically, CTOs are characterized by fibrous caps, varying degrees of plaques, and neovascularization, with both increasing with the age of the CTO. Multiple registries and studies show that successful PCI of CTOs can improve symptoms, left ventricular function, and mortality. There is overwhelming evidence that very low restenosis and reocclusion rates can be obtained with drug eluting stents after recanalization of CTOs. PCI should be considered the preferred initial revascularization modality in patients in whom a high procedural success rate may be anticipated. Novel techniques have greatly enhanced procedural success, and include ''parallel'' and ''seesaw'' wire techniques, balloon anchoring, subintimal tracking and reentry (STAR), retrograde approach, contralateral injection, and intravascular ultrasound (IVUS) guidance. Improvements in wire technology have largely been responsible for improved procedural success in PCI of CTO, while application of new technologies hold promise to significantly better outcomes. Magnetic resonance imaging (MRI) and multislice computed tomography (CT) are already employed in formulating treatment strategies and their role in the treatment of CTOs is likely to increase.

[Treatment of the acute coronary syndrome in Germany: experiences in a German cluster of the GRACE registry]. / Behandlung des akuten Koronarsyndroms in Deutschland: Erfahrungen eines deutschen Clusters des GRACE-Registers.

BACKGROUND: The acute coronary syndrome (ACS) remains a major cause of mortality and morbidity in the western world. The Global Registry of Acute Coronary Events (GRACE) documents inpatients with all types of ACS and a follow-up at three months in Germany and worldwide. METHODS: The data of the German Cluster Detmold were compared with data from the worldwide GRACE registry (31,070 patients). Data from 849 patients with ST-elevation myocardial infarction (STEMI), non-ST elevation myocardial infarction (NSTEMI) and unstable angina (UA) were collected from October 2001 to September 2005 in eight participating hospitals in the GRACE2 Cluster Detmold. RESULTS: Compared with the worldwide GRACE data the patients in the Cluster Detmold had longer pre-hospital admission times (STEMI patients < 1 h: 13.9 % vs. 17.0 %; p < 0.05); more frequent interventions (PCI 60.1 % vs. 48.7%; p < 0.001) and less thrombolysis (17.9 vs. 42.5%; p < 0.001) in STEMI patients; more frequent use of platelet inhibitors (clopidogrel and ticlopidine, 93.4 % vs. 89.4%; p < 0.001) and unfractionated heparin (69.8 % vs. 36.5; p < 0.001), and less frequent use of low molecular weight heparin (31.1 % vs. 51.2%; p < 0.001); more frequent use of RAS blocking agents (80.2 vs. 66.6, p < 0.001) and beta blockers (87.4 vs. 78.8, p < 0.001) and less frequent use of lipid lowering agents (23.5 vs. 72.5%; p < 0.001). CONCLUSIONS: Current management of ACS in Germany closely follows the recommendations of the German society of Cardiology. Differences in practice may account for the observed substantially lower event rates in Germany during hospitalization, but there is still room for improvement in the pre-hospital phase und in the degree to which pharmacotherapy is used for secondary prevention.

[Cardiologic findings in Hauptmann-Thannhauser muscular dystrophy (autosomal dominant Emery-Dreifuss muscular dystrophy)]. / Kardiologische Befunde bei Hauptmann-Thannhauser-Muskeldystrophie (autosomal dominante Emery-Dreifuss-Muskeldystrophie).

HISTORY: A 19-year-old man with congestive heart failure reported recent onset of exercise-induced dyspnea and pitting edema of the face. He also developed increasing muscular weakness. Three years before the diagnosis of autosomal-dominant Emery-Dreifuss muscular dystrophy (EDMD) had been made. FINDINGS: Cardiac and lung auscultation were unremarkable. The heart rate was 102 /min, and the blood pressure 100/70 mmHg. Aspartate aminotransferase (62 U/l) and lactate dehydrogensase (361 U/l) were elevated. The electrocardiogram during telemetric monitoring showed a 2 AV block, Mobitz type II. Echocardiography showed an ejection fraction of 20%. Coronary atherosclerosis was excluded by coronary angiography. A raised pulmonary wedge pressure at rest was recorded through an indwelling Swan-Ganz catheter, but cardiac output was normal. Histopathology revealed findings typical for dilated cardiomyopathy. THERAPY AND COURSE: The patient was already on diuretics when admitted; other medication included an ACE inhibitor, beta-blocker, aldosterone antagonist and digitalis. A cardioverter-defibrillator was implanted prophylactically. Congestive heart failure developed during the subsequent months. Two years later the patient underwent orthotopic heart transplantation. CONCLUSION: In patients with genetically determined neuromuscular diseases it is prognostically important early to recognize cardiomyopathy and cardiac arrhythmias. Subsequent cardiac transplantation may be life-saving.