Diagnosis Of Right Ventricular Dysplasia Research Articles

Usefulness of Magnetic Resonance Imaging for the Diagnosis of Right Ventricular Dysplasia in Children

Cardiac magnetic resonance (CMR) has been helpful in adults in the diagnosis of arrhythmogenic right ventricular dysplasia. Short of direct surgical observation or autopsy, no gold standard exists. CMR diagnostic criteria include right atrial and ventricular dilation, regional right ventricular (RV) wall motion abnormalities, outflow tract ectasia, and myocardial fatty infiltration. To determine whether adult diagnostic criteria are useful in children referred for CMR for this diagnosis, the images and records of 81 patients (aged 11.5 +/- 5.5 years) over an 8-year period were reviewed. Histories included ventricular tachycardia, palpitations, dilated right ventricle, syncope, near sudden death, or family history of RV dysplasia. Four families were studied with parents who had RV dysplasia diagnosed by surgery, explanted heart, or CMR. CMR imaging included T1-weighted imaging, cine, 1-dimensional RV myocardial tagging, and phase-encoded velocity mapping, and 2 patients underwent delayed-enhancement CMR. Only 1 of the 81 patients met 5 of the criteria. None of the others met >2 of the criteria, and only 2 patients met 1 or 2 criteria. For questionable regional wall motion abnormalities, RV myocardial tagging was helpful. In conclusion, CMR of patients with a history suspicious for the diagnosis of RV dysplasia is a low-yield test in children. This may be due to the evolving nature of the disease, which does not manifest itself from a morphologic or ventricular-function standpoint until later in development. Follow-up studies as patients age may be advantageous.

Clinical Value of Cardiovascular Magnetic Resonance Imaging in the Diagnostic Work-up of Patients With Suspected Arrhythmogenic Right Ventricular Dysplasia

To analyze retrospectively the usefulness of cardiovascular magnetic resonance imaging in the assessment of patients with clinically suspected arrhythmogenic right ventricular dysplasia. We reviewed retrospectively findings from 46 consecutive patients (mean age, 42+/-19 years; 25 male) who were referred for investigation to rule out right ventricular dysplasia. Abnormal findings were classified according to the general diagnostic criteria established by the European Society of Cardiology. Evaluable images were available for all patients. Abnormal right ventricular findings were reported in 24 patients (52%), but only 5 were given a definite diagnosis of right ventricular dysplasia. Fatty infiltration was observed in 9 patients; it was an isolated finding in 6 but was associated with right ventricular contractile dysfunction in 3. These latter patients belonged to the group with confirmed dysplasia. None of the 22 patients (48%) with normal findings on magnetic resonance imaging was given a diagnosis of dysplasia. Cardiovascular magnetic resonance imaging enabled the right ventricle to be assessed in all patients. In those with clinically suspected dysplasia, normal findings ruled out the diagnosis. However, only 21% of those with abnormal findings on magnetic resonance imaging were finally given a confirmed diagnosis of dysplasia. Fatty infiltration of the right ventricular wall does not imply dysplasia unless it is associated with other abnormalities in right ventricular morphology or contractility. Cardiovascular magnetic resonance imaging is useful in the work-up of patients with clinically suspected arrhythmogenic right ventricular dysplasia.

Magnetic resonance imaging and the diagnosis of right ventricular dysplasia in children: An institutional experience

Magnetic resonance imaging and the diagnosis of right ventricular dysplasia in children: An institutional experience

Right ventricular dysplasia in an asymptomatic young man: An uncommon case with biventricular involvement and no known family history

A 33-year-old man had cardiomegaly on a routine x-ray examination. He was asymptomatic with no history of infarction, syncope, or palpitations. There was no family history of congenital heart disease or sudden death. Two-dimensional transthoracic echocardiography demonstrated marked enlargement of the right atrium and ventricle with severely depressed right and left ventricular function that was consistent with right ventricular dysplasia. The patient was treated with an angiotensin-converting enzyme inhibitor and did well for 6 months, but then developed symptomatic left-sided congestive heart failure. Short-term improvement was obtained with intravenous inotropic therapy, but he continued to have progressive symptoms of heart failure. Approximately 7 months after his initial presentation, the patient underwent orthotopic heart transplantation for intractable congestive heart failure. Pathologic examination of the explanted heart established the diagnosis of right ventricular dysplasia with left ventricular involvement. This is an uncommon presentation of right ventricular dysplasia with biventricular involvement and no known family history. (J Am Soc Echocardiogr 2001;14:317-20.)

Sudden Death in Right Ventricular Dysplasia with Minimal Gross Abnormalities

Arrhythmogenic right ventricular cardiomyopathy is emerging as a relatively common cause of exercise-induced sudden death in the young. The diagnostic criteria at autopsy are, however, not fully established, leading to both over- and underdiagnosis. We report a young man and a young woman dying suddenly of right ventricular dysplasia during exercise, in whom the gross autopsy findings in the right ventricle were minimal or even absent. However, the histologic features in both right and left ventricles were typical of the disease, and consisted of fibrofatty infiltrates with typical myocyte degeneration of the right ventricle and subepicardial regions of the left ventricle. These cases illustrate that microscopic findings are diagnostic and may be present in the absence of gross findings. Marked fat replacement is not essential for the diagnosis of right ventricular dysplasia, and the right ventricle should be extensively sampled histologically in all cases of sudden unexpected death, especially those that are exercise related.

Right Ventricular Dysplasia: A Report of 24 Adult Cases

SUMMARYRight ventricular dysplasia is characterized by an abnormality in the development of part of the right ventricular musculature. Patients with right ventricular dysplasia may present with ventricular tachycardia, suprgventricular arrhythmias, right‐heart failure or asymptomatic cardlomegaly. Twenty‐two adult patients with right ventricular dysplasia who had recurrent ventricular tachycardia were seen during a 7‐year period. The male/female ratio was 2.7:1. The mean age at the time of hospitalization was 39 years. All but one of the patients had ventricular tachycardia of a left bundle branch block configuration. With few exceptions, the T waves were inverted over the right precordial leads. The heart was usually enlarged and the pulmonary vasculaturc was usually normal. In six patients who had two‐dimensional echocardiograms, all showed increased right ventricular diastolic dimensions. All patients had right ventricular angiography; the diagnosis of right ventricular dysplasia was substantiated during surgery in 12 patients and at autopsy in another. Two other patients who did not have arrhythmias had right ventricular dysplasia diagnosed by right‐ and left‐heart angiography.Our unique experience, when combined with a literature review of 34 adult cases, permits a composite clinical profile of this condition in the adult.

MRI diagnosis of right ventricular dysplasia

Right ventricular dysplasia (RVD) represents an important cause of sudden death and ventricular arrhythmias in young patients. The aim of this study was to describe diagnostic diagnostic criteria and the MR-tomographie aspects of the disease. 34 patients with clinically suspected RVD were examined by 0.5-T MRI (cardiac-gated T1-weighted spin echo sequences and cine gradient echo sequences). RVD was confirmed in 16 patients and ruled out in 18 patients. MR images were evaluated for presence of: 1. right myocardial fatty infiltration, 2. dilatation of the right ventricle, 3. dilatation of the right ventricular outflow tract, and 4. localised right ventricular aneurysm. Right myocardial fatty infiltration was detected by MRI in 11 of 16 patients (69%) with RVD. Dilatation of the right ventricle was seen in 5 patients, dilatation of the right outflow tract in one patient, and localised right ventricular aneurysm in two patients with RVD. MRI is able to demonstrate fatty replacement of right ventricular myocardium in most cases and plays an important role in the diagnosis of RVD.

Fat infiltrates in endomyocardial biopsies lack specificity for the diagnosis of right ventricular dysplasia

Fat infiltrates in endomyocardial biopsies lack specificity for the diagnosis of right ventricular dysplasia

Right ventricular dysplasia as a generalized cardiomyopathy? findings on magnetic resonance imaging.

The aim of our study was to define cardiac morphological and functional abnormalities of right ventricular dysplasia by magnetic resonance imaging. Twenty-two healthy volunteers (age, 37.7 +/- 14.2 years) free of cardiac or respiratory diseases (group I) and 12 patients (age, 41.9 +/- 15.8 years) with clinical, electrophysiological and cineangiographic diagnosis of right ventricular dysplasia (group II) underwent magnetic resonance imaging at 0.2 Tesla. End-diastolic diameter, trabecular disarray and segmental wall motion abnormalities were evaluated for the right ventricle as were adipose replacement and fractional shortening for both ventricles. The right ventricular end-diastolic diameter was significantly enlarged in group II (P = 0.0023). Right ventricular trabecular disarray was mild in two group I subjects, and moderate in seven and massive in five group II patients. Right ventricular systolic bulges were found in seven group II patients, aneurysms in five. Excellent agreement was found between magnetic resonance imaging and cineangiography for bulges, aneurysms and tricuspid regurgitation (P < 0.0001). On spin-echo images, signal hyperintensities, due to adipose replacement, were found in 44 cardiac regions in group II: right ventricular outflow tract (12), sub-tricuspid posterobasal region (8), right ventricular apex (9), right ventricular anterior wall (6), interventricular septum (4), left ventricular lateral wall (4), left ventricular apex (1). Significant signal-to-noise ratio differences were found between group II abnormal areas and group I myocardial tissue for the right (P < 0.0001) and left ventricles (P = 0.0006). Fractional shortening in the right and left ventricles were significantly reduced in group II (P = 0.0002 and P = 0.00016, respectively). Magnetic resonance imaging can be considered a very useful diagnostic tool for the detection of features typical of right ventricular dysplesia, such as adipose replacement, trabecular disarray, bulges and aneurysms and provides useful information about cardiac function and regional wall motion. It indicates that left ventricular involvement occurs in a significant fraction of patients, and suggests that right ventricular dysplasia may be a generalized cardiomyopathy.

MR features of arrhythmogenic right ventricular dysplasia.

Arrhythmogenic right ventricular dysplasia is defined as a primary disorder of the right ventricle characterized by partial or total replacement of muscle by adipose or fibrous tissue. Its diagnosis currently rests on techniques that accurately identify specific anatomic and functional abnormalities of the right ventricle. To date, none of these methods (except for autopsy) are specific for right ventricular dysplasia although angiography of the right ventricle is considered to be the current gold standard. MR imaging shows promise in clarifying the diagnosis of right ventricular dysplasia. This pictorial essay describes our current technique for examining the right ventricular myocardium in patients thought to have this disease and illustrates the spectrum of abnormalities encountered in these patients.

Right ventricular dysplasia: a familial cardiomyopathy?

268 preselected subjects were extensively studied and the diagnosis of right ventricular dysplasia (RVD) was made in 108 living and 18 deceased patients, 35% of cases being familial. Subsequently we studied 72 subjects from nine families in which a case of sudden death had occurred with the autoptic diagnosis of RVD. In 42 out of 72 cases the autoptic (11 patients), clinical-echocardiographic (30 patients) and haemodynamic (15 patients) data supported the diagnosis of RVD. In all but one deceased patient, death was sudden, while in all the living family members we observed ventricular arrhythmias, mostly with left bundle branch block morphology. Both manifest and concealed forms were documented with polymorphic presentation and with clinical-pathologic findings similar to the non-familial RVD cases. This study confirms the presence of a familial form of RVD that is probably more frequent than previously thought. Preliminary data seem to indicate an autosomal dominant inheritance with incomplete penetrance and variable expression.

Histological diagnosis of right ventricular dysplasia: a role for electron microscopy?

Right ventricular dysplasia is a rare cardiomyopathy predominantly involving the right ventricle. We report eight cases studied with light and electron microscopy. By light microscopy, we found the typical replacement of myocardium with mature adipose tissue where only scattered degenerated myocytes wrapped in thin fibrous sheets are seen. Electron microscopy shows abnormal intercalated discs in both the right and left ventricles: intercalated discs are attenuated and flattened with decreased Z band material (desmin). These changes, not previously reported, may be useful for diagnosing ARVD.

Contribution of cross-sectional echocardiography to the diagnosis of right ventricular dysplasia at the asymptomatic stage.

The value of cross-sectional echocardiography in the early diagnosis of right ventricular (RV) dysplasia in asymptomatic patients has been assessed. Criteria that defined RV dysfunction and structural abnormalities were developed from 38 normal subjects. Of 136 patients admitted into the study program, 40 (29.4%) had an echocardiogram suggestive of RV dysplasia using the following criteria: mild dilatation of the right ventricle (normal range defined as the 95% confidence limit of the values in the control group); localized bulge and dyskinesia of the infero-basal wall; structural changes of the moderator band; isolated enlargement of RV outflow tract; apical dyskinesia and trabecular disarrangement. Holter monitoring and a maximal exercise stress test at entry into the study and during the follow-up (mean 42, range 18-82 months) demonstrated serious ventricular arrhythmias, and RV endomyocardial biopsy confirmed the diagnosis of RV dysplasia in most of these patients, characterized by an electrical instability of RV myocardium (82.5%). During the follow-up, a marked enlargement of RV cavity appeared in three other patients, and RV endomyocardial biopsy demonstrated the typical findings in all patients.

Usefulness of noninvasive studies for diagnosis of right ventricular dysplasia

The value and limitations of echocardiography and cardiac scintigraphy in the diagnosis of right ventricular (RV) dysplasia were assessed. Criteria that defined RV dysfunction were developed first using data from 40 normal subjects. The sensitivity and specificity of these criteria to detect RV dysplasia were then determined in 44 patients suspected of having RV dysplasia. In these patients the presence (14 patients) or absence (30 patients) of RV dysplasia had been established using cardiac catheterization data, which included contrast RV cineangiograms. Mean RV end-diastolic and end-systolic diameters, and RV/left ventricular (LV) ratios of end-diastolic and end-systolic diameters and end-diastolic and end-systolic volumes were greater in patients with RV dysplasia (p < 0.001). Using cardiac scintigraphy, all patients with RV dysplasia were identified by an RV LV end-systolic volume greater than 1.8; exercise RV ejection fraction less than 50%; or exercise RV wall motion score more than 1. Using echocardiography, RV contraction abnormalities were seen in 80% of patients with RV dysplasia. The specificities, even in this selected population, were less than 100%. Thus, normal echocardiographic and scintigraphic results can be used instead of RV contrast cineangiography to exclude the diagnosis of RV dysplasia.

Intraventricular Wenckebach conduction and localized reentry in a case of right ventricular dysplasia with recurrent ventricular tachycardia

Serial electrophysiologic studies were performed in a patient with recurrent ventricular tachycardia of left bundle branch configuration whose course and noninvasive evaluation are consistent with a diagnosis of right ventricular dysplasia. The localization of slowed conduction to the right ventricular apex, the reproducible initiation and termination of tachycardia with programmed extrastimuli and the presence of continuous electrical activity during tachycardia suggest a reentrant mechanism for this arrhythmia. Antiarrhythmic drugs further prolong the already fragmented apical electrogram and result in Wenckebach conduction within the abnormal portion of the right ventricle during pacing and tachycardia. Electrophysiologic findings are remarkably similar in studies performed 32 months apart.

Right ventricular dysplasia: a report of 24 adult cases.

Right ventricular dysplasia is characterized by an abnormality in the development of part of the right ventricular musculature. Patients with right ventricular dysplasia may present with ventricular tachycardia, supraventricular arrhythmias, right-heart failure or asymptomatic cardiomegaly. Twenty-two adult patients with right ventricular dysplasia who had recurrent ventricular tachycardia were seen during a 7-year period. The male/female ratio was 2.7:1. The mean age at the time of hospitalization was 39 years. All but one of the patients had ventricular tachycardia of a left bundle branch block configuration. With few exceptions, the T waves were inverted over the right precordial leads. The heart was usually enlarged and the pulmonary vasculature was usually normal. In six patients who had two-dimensional echocardiograms, all showed increased right ventricular diastolic dimensions. All patients had right ventricular angiography; the diagnosis of right ventricular dysplasia was substantiated during surgery in 12 patients and at autopsy in another. Two other patients who did not have arrhythmias had right ventricular dysplasia diagnosed by right- and left-heart angiography. Our unique experience, when combined with a literature review of 34 adult cases, permits a composite clinical profile of this condition in the adult.