Thromboembolic complications in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

AIMS: Incidence and clinical presentation of thromboembolic complications in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) were analysed. In reports on ARVD/C, thromboembolism is rarely mentioned. The possible risk factors are: right ventricle (RV) dilatation, aneurysms, and wall motion abnormalities. METHODS AND RESULTS: A group of 126 patients (89 male, 37 female, aged 43.6+/-14.3) with ARVD/C was retrospectively analysed for the presence of thromboembolic complications. The mean follow-up period was 99+/-64 months. Thromboembolic complications, i.e. pulmonary embolism (n=2), RV outflow tract thrombosis with severe RV failure (n=1), and cerebrovascular accident associated with atrial fibrillation (n=2) were observed in 4% of the patients. Spontaneous echogenic contrast was observed in seven patients with severe damage to RV. In four of them supraventricular arrhythmias resulting in heart failure were reported. Annual incidence of thromboembolic complications was 0.5/100 patients. CONCLUSIONS: (i) ARVD/C may be complicated by thrombosis. Annual incidence of such complications is significantly lower than reported for left ventricle failure. (ii) Anticoagulation should be used in ARVD/C patients with large, hypokinetic RV and slow blood flow. (iii) Patients with severe forms of ARVD/C, thrombus formation in the RV and/or spontaneous echocardiographic contrast are at higher risk of a poor outcome.

Arrhythmogenic right ventricular cardiomyopathy in two pairs of monozygotic twins.

UNLABELLED: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inheritant disease with an autosomal dominant mode of transmission with incomplete penetrance and variable expression. Linkage analysis in affected families succeeds in identifying 9 loci determining 9 subtypes of the disease. Genotype phenotype correlation is unclear and the influence of various environmental factors is discussed. OBJECTIVES: Genotype phenotype correlation in 2 pairs of monozygotic twins with ARVC and the role of environmental factors are analyzed. PATIENTS AND METHODS: Among 40 pts with ARVC and their 195 relatives there were 2 pairs of monozygotic twins: brothers, age 47 y; and sisters, age 48 y. History, ECG, Holter monitoring, 2D and Doppler Echo, and MRI were analyzed. RESULTS: Twin brothers: ARVC was diagnosed in the proband after the episode of VT with LBBB morphology (enlarged right ventricle, focal hypokinesia of apex, MR evidence of adipose tissue in RV wall). Identical morphology of RV was seen in asymptomatic twin brother. The patient presenting arrhythmia has been rowing for 4 years. Twin sisters: diagnosis was done during family screening. Both were asymptomatic. RV morphology typical for ARVC was found discrete in one of them (bulges adipose tissue in the RV apex); the latter showed changes suggesting RV abnormality (mild segmental dilatation of infundibulum, adipose tissue in a free wall of the RV). No differences in previous viral infections and sports involvement were observed. CONCLUSIONS: 1. Clinical picture of ARVC in monozygotic twins is not identical. 2. Strenuous effort may be a factor triggering the arrhythmia in pts with ARVC.

Familial form of arrhythmogenic right ventricular cardiomyopathy.

BACKGROUND: Arrhythmogenic right ventricular dysplasia (ARVD) is characterised by fatty and fibrous infiltration of myocardial muscle. Clinical symptoms include dangerous cardiac arrhythmias and heart failure in the advanced form of the disease. ARVD is genetically determined in at least 50% of cases and is characterised by a marked variability of clinical presentation within one family. AIM: To assess the prevalence of the familial form of ARVD in Poland, the mode of inheritance and the risk of sudden cardiac death as well as heart failure development in asymptomatic patients, in whom ARVD was detected during family screening. METHODS: 211 relatives of 40 patients with ARVD were examined. Thirty two families were identified in which at least two members had the disease. The analysed parameters included family history, physical examination, ECG, echocardiography and magnetic resonance. RESULTS: Abnormalities of the right ventricle and/or cardiac arrhythmias suggesting ARVD were found in 71 subjects (mean age 32.4 years). In 28 cases ARVD was diagnosed. From this group, one patient had aborted sudden death. In the remaining 43 subjects a borderline form of the disease was detected. Of this group, one patient died suddenly. The degree of morphological changes in cardiac muscle correlated with patients' age. CONCLUSIONS: 1. The familial form of ARVD is frequent in Poland. 2. ARVD is inherited in an autosomal dominant mode. 3. Sudden cardiac death may be the first symptom of the disease, even in subjects with borderline ARVD. 4. ARVD is a progressive disease. Concomitant left ventricular involvement is not rare and probably represents a late stage of the disease.

[Which echocardiographically unrecognised complications of native aortic valve endocarditis may be found during operation?]. / Jakie nierozpoznane echokardiograficznie zmiany moze stwierdzic chirurg u chorego z infekcyjnym zapaleniem wsierdzia naturalnej zastawki aortalnej?

The aim of the study was to determine the type and localisation of complications of aortic valve endocarditis, that have not been recognised on transthoracic (TTE) and/or transesophageal (TEE) echocardiographic study. The echocardiographic findings were retrospectively compared and contrasted with direct surgical inspection in 156 consecutive adults operated on native aortic valve endocarditis in our institute during the last 8 years. We analysed recognition of abscess, pseudoaneurysm, fistula and cusp rupture. Periannular complications were detected at operation in 51 pts, cusp rupture in 97 pts. Sensitivity of TTE in recognition of abscesses was 55%, TEE--60%; pseudoaneurysm--TTE--64%, TEE--100%; fistula--TTE 60%, TEE 100%; cusp rupture--TTE 65%, TEE 81%. Both echocardiographic methods have some inherent limitations while diagnosing complications of aortic valve endocarditis. In particular, these include small abscesses and cusp rupture. Using both modalities in a complementary way seems to offer the best approach in overall definition of the extent of inflammation.

Day-to-day reproducibility of Holter beat-by-beat analysis of repolarisation.

UNLABELLED: Reproducibility of Holter QT analysis is not well established and has been assessed only in one study. STUDY DESIGN: We evaluated the day-to-day reproducibility of different QT parameters--mean and max (four beats basis) 24h QT and QTc (Bazett formula), QT for heart rate 55-60 [QT60], 75-80 [QT80] and 95-100 [QT100] beats/min and QT/RR slope (calculated in moving window of 3000 beats in 50 beat steps). QT intervals were measured from 48h digital ECG (sampled at 256 Hz) recordings using Del Mar Medical's QT software in beat-to-beat fashion. The analysed group consisted of 6 women and 24 men--13 patients with hypertrophic cardiomyopathy, 5 healthy family members of the patients with hypertrophic cardiomyopathy, 7 patients with CAD and 5 with other diseases (hypertension, arrhythmia, aborted sudden death without organic heart disease). Reproducibility was analysed with the methods proposed by Bland and Altman. RESULTS: The overall reproducibility of repolarisation parameters was acceptable. Coefficient of reproducibility for mean 24h QT was 24ms, mean QTc 12ms, max QT 22ms, max QTc 24ms. The best reproducibility was observed for QT60, QT80 and QT100 - 12ms, respectively. The poorest day-to-day reproducibility was recorded for the QT/RR slope parameters, which was related to lower heart rate reproducibility. CONCLUSIONS: We can conclude that day-to-day reproducibility of Holter repolarisation analysis is acceptable. QT measurement in narrow heart rate windows has the best reproducibility. Accurate QT analysis requires good quality recording, T wave amplitude above 0.2mV and an interactive QT measurement tool which includes verification, editing abilities.

The rupture of periaortic infective aneurysm into the left atrium and the left ventricular outflow tract: preoperative diagnosis by transthoracic echocardiography.

We present a rare complication of infective endocarditis, perforated periaortic abscess with fistulous communication between the aortic root, the left atrium, and the left ventricular outflow tract. Preoperative transthoracic echocardiographic diagnosis was confirmed intraoperatively. The patient was treated successfully by aortic homograft implantation.

[Echocardiographic evaluation of left atrial function in dilated cardiomyopathy with restricted and non-restricted Doppler transmitral flow]. / Echokardiograficzna ocena funkcji lewego przedsionka w kardiomiopatii rozstrzeniowej z restrykcyjna i nierestrykcyjna dopplerowska krzywa naplywu mitralnego.

UNLABELLED: Left atrial (LA) function is of great importance in left ventricular (LV) filling. There is evidence that echocardiographic Doppler evaluation of transmitral flow, routinely used for LV filling estimation, is dependent on LA function. Information regarding the relation of LA size and function to transmitral flow in heart failure is limited. We used 2D echocardiographic acoustic quantification methods to assess LA function in patients with dilated, (non-ischemic) cardiomyopathy (DCM) and a control group. The DCM group was divided into 2 subgroups: Group 1-with restrictive LV Doppler filling pattern-18 patients (DCM-R) and Group 2-with non-restrictive LV Doppler filling pattern-11 patients (DCM-NR) with similar heart rate, age and degree of mitral regurgitation. LA maximal area, total emptying fraction and absolute and fractional area change during rapid emptying and atrial contraction were calculated. The LA was enlarged only in DCM-R. Both DCM groups had decreased total emptying fractions and rapid emptying area changes compared to controls. An enlarged LA area and more decreased total emptying were found in DCM-R with high LV filling pressures compared to DCM-NR. The restrictive group had a significantly smaller LA rapid emptying area change, as well as a smaller LA area change and emptying fraction during atrial contraction compared to DCM-NR. Within < or = 2 hrs after the echocardiography study, cardiac catheterization was performed in the DCM group. We found significantly higher LV filling pressures and lower LV ejection fractions in DCM-R compared to DCM-NR. Significant correlations were found between LA function and invasive parameters like capillary wedge and LV enddiastolic pressures and LV EF. CONCLUSION: Patients with DCM-R had significantly enlarged LA areas with more depressed total emptying fractions and smaller LA area changes during contraction compared to DCM-NR. Thus, left atrial function plays an important role in LV filling and its dysfunction can be a marker of poor prognosis.