Usefulness of magnetic resonance imaging for the diagnosis of right ventricular dysplasia in children
ABSTRACT 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.
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ABSTRACT: Autosomal dominant arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle; with time, it may also involve the left ventricle. The presentation of disease is highly variable even within families, and affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years). The diagnosis of autosomal dominant ARVD/C is made using a combination of noninvasive and invasive tests to detect abnormalities in cardiac structure and rhythm. The eight genes known to be associated with autosomal dominant ARVD/C are: TGFB3 (locus name: ARVD1; protein: transforming growth factor beta-3), RYR2 (locus name ARVD2; protein: ryanodine receptor 2), TMEM43 (locus name ARVD5; protein: transmembrane protein 43), DSP (locus name ARVD8; protein: desmoplakin), PKP2 (locus name ARVD9; protein: plakophilin-2), DSG2 (locus name: ARVD10; protein: desmoglein-2), DSC2 (locus name: ARVD11; protein: desmocollin-2), and JUP (locus name: ARVD12; protein: junction plakoglobin). Four additional genes associated with autosomal dominant ARVD/C have been mapped but not identified (locus names ARVD3, ARVD4, ARVD6, and ARVD7). Additional loci remain undetermined. Molecular genetic testing is available on a clinical basis for TGFB3, RYR2, TMEM43, DSP, PKP2, DSG2, DSC2, and JUP. Treatment of manifestations: Management is individualized and focused on prevention of syncope, cardiac arrest, and sudden death through use of antiarrhythmic medication, implantable cardioverter-defibrillators, and rarely, heart transplantation. Individuals who present with clinical signs of right heart failure and/or left ventricular dysfunction and have a history of ventricular tachycardia should be treated aggressively. Testing of relatives at risk: screening by noninvasive tests annually during puberty and every two to three years after puberty. Autosomal dominant ARVD/C is inherited in an autosomal dominant manner. A proband with autosomal dominant ARVD/C may have the disorder as a result of a new gene mutation. The proportion of cases caused by de novo mutations is unknown. Each child of an individual with autosomal dominant ARVD/C has a 50% chance of inheriting the mutation. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation has been identified in the family; if no laboratory offering prenatal testing is listed in the GeneTests Laboratory Directory, such testing may be available through laboratories offering custom prenatal testing.GeneReviews™, Edited by Roberta A Pagon, Thomas D Bird, Cynthia R Dolan, Karen Stephens, Margaret P Adam, 01/2008; University of Washington, Seattle.
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ABSTRACT: Die arrhythmogene rechtsventrikuläre Dysplasie/Kardiomyopathie (ARVD/C) ist eine angeborene Erkrankung, deren Erstmanifestation häufig der plötzliche Herztod ist. Standard für die schwierige Diagnostik sind die sog. modifizierten Task-force-Kriterien, in die bildgebende, elektrokardiographische und anamnestische Befunde eingehen. Die MRT ist das Standardverfahren zur Darstellung des rechten Ventrikels. Zu den derzeit gültigen ARVD/C-Diagnosekriterien kann die MRT exakte Informationen zu Größe und Funktion des rechten Ventrikels liefern. Für die Identifizierung rechtsventrikulärer Aneurysmata und zur Quantifizierung der Ventrikelgröße ist die MRT die zuverlässigste verfügbare Methode. Darüber hinaus können Fibrose- und Fettareale innerhalb des rechtsventrikulären Myokards nichtinvasiv nachgewiesen werden. Jedoch kann eine ARVD/C aufgrund MR-tomographischer Befunde alleine weder bewiesen noch ausgeschlossen werden. In der Praxis der ARVD/C-Diagnostik ist die MRT eine enorm wichtige Komponente. Sie kann jedoch nur als ein Baustein unter mehreren fungieren und sollte nur mit speziell abgestimmten Protokollen und von erfahrenen Zentren angewendet werden.Der Radiologe 01/2013; 53(1). DOI:10.1007/s00117-012-2383-3 · 0.41 Impact Factor
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ABSTRACT: It has been suggested that, in late gadolinium enhancement, the signal of right ventricular myocardium is nulled at a shorter inversion time than the left. While we initially made the same observation, we believe that the difference is not real, but results from artifacts. We present 7 cases as well as computer simulations to describe the nature of these artifacts and explain how they can create the impression of different inversion times for the right and left ventricle. At inversion times that are shorter than ideal for the myocardium a black rim can be seen at the border of the myocardium with blood on the inside and with fat on the outside. This is most likely a partial volume effect. The thin myocardium of the right ventricle is sandwiched between these black rims and, at a low spatial resolution, is no longer visible. In this case, the adjacent black rims may then be misinterpreted as myocardium. While black rims also occur on the left side, the myocardium is thicker and remains discernable as a separate layer. As a consequence, the optimal inversion time for the right ventricle only appears different from that for the left. In fact, in the presence of hypertrophy of the right ventricle or during systolic wall thickening we did not find a difference in inversion times between the left and right ventricle. We conclude that sufficient spatial resolution is important for adequate late gadolinium enhancement of the right ventricle.Journal of Cardiovascular Magnetic Resonance 02/2008; 10(1):20. DOI:10.1186/1532-429X-10-20 · 5.11 Impact Factor