Cardiac Rhabdomyoma in an Adult With a Previous Presumptive Diagnosis of Septal Hypertrophy
2008; Lippincott Williams & Wilkins; Volume: 117; Issue: 22 Linguagem: Inglês
10.1161/circulationaha.107.744904
ISSN1524-4539
AutoresRicardo Wage, Henryk Kafka, Sanjay Prasad,
Tópico(s)Tumors and Oncological Cases
ResumoHomeCirculationVol. 117, No. 22Cardiac Rhabdomyoma in an Adult With a Previous Presumptive Diagnosis of Septal Hypertrophy Free AccessReview ArticlePDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissionsDownload Articles + Supplements ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toSupplementary MaterialsFree AccessReview ArticlePDF/EPUBCardiac Rhabdomyoma in an Adult With a Previous Presumptive Diagnosis of Septal Hypertrophy Ricardo Wage, DCR(R), Henryk Kafka, MD and Sanjay Prasad, MD Ricardo WageRicardo Wage From the Cardiovascular Magnetic Resonance Unit, Imperial College, Royal Brompton Hospital, London, UK (R.W., H.K., S.P.), and The Division of Cardiology and the Department of Radiology, Queen's University, Kingston General Hospital, Kingston, Canada (H.K.). , Henryk KafkaHenryk Kafka From the Cardiovascular Magnetic Resonance Unit, Imperial College, Royal Brompton Hospital, London, UK (R.W., H.K., S.P.), and The Division of Cardiology and the Department of Radiology, Queen's University, Kingston General Hospital, Kingston, Canada (H.K.). and Sanjay PrasadSanjay Prasad From the Cardiovascular Magnetic Resonance Unit, Imperial College, Royal Brompton Hospital, London, UK (R.W., H.K., S.P.), and The Division of Cardiology and the Department of Radiology, Queen's University, Kingston General Hospital, Kingston, Canada (H.K.). Originally published3 Jun 2008https://doi.org/10.1161/CIRCULATIONAHA.107.744904Circulation. 2008;117:e469–e470An 18-year-old woman had been complaining of palpitations and had suffered several episodes of syncope. When the patient was 6 years of age, echocardiography had revealed a localized area of septal hypertrophy without left ventricular outflow tract obstruction, and she was diagnosed with hypertrophic cardiomyopathy. Because of her recent symptoms, she was referred for a number of neurological and cardiac investigations, including cardiovascular magnetic resonance imaging (CMR).On CMR, there was a localized mass in the interventricular septum that extended from the level of the aortic valve toward the midcavity for a distance of approximately 50 mm, measuring 30 mm at its maximum width. On steady-state free precession cine, it appeared to be homogeneous without any definite demarcation from surrounding myocardium (Figure, A and B, and Movies I through V), and there was limited systolic motion of that part of the septum. There was no evidence of left ventricular outflow tract obstruction. No calcification was noted. T1-weighted imaging showed a homogeneous isointense signal compared with surrounding myocardium (Figure, C). T2 short tau inversion recovery images showed a hyperintense signal within the mass (Figure, D) that differentiated it from the surrounding myocardium. Perfusion imaging demonstrated complete opacification of the full thickness of the mass with almost immediate opacification of the central portion (Movie VI). There was early gadolinium uptake in the mass with enhancement that was more marked than in the surrounding myocardium (Figure, E). Abnormal late enhancement was visible across the entire thickness of the mass (Figure, F). Download figureDownload PowerPointFigure. A, Short-axis still image from an steady-state free precession cine obtained through the proximal septum. The markedly thickened septum (arrow) appears to be homogeneous with the rest of the left ventricle (LV) and right ventricle (RV) myocardium. B, Still image from an steady-state free precession cine showing the LV outflow tract (arrow). Despite the marked enlargement of the septum, there was no measured gradient in the LV outflow tract. C, Short-axis turbo spin echo image with T1 weighting demonstrates that the signal from the markedly thickened septum is isointense compared with the rest of the LV myocardium. D, Short-axis T2 short tau inversion recovery image demonstrates a hyperintense signal within the thickened septum, suggesting a different structure from the surrounding myocardium. E, Short-axis image obtained early after gadolinium injection with enhancement of the LV and RV cavities, as well as the myocardium, including the thickened septum. F, Short-axis image obtained late after gadolinium injection. Normal myocardium appears black. There is marked abnormal late enhancement throughout the entire segment of thickened septum.We concluded that the markedly thickened appearance of the septum was due not to localized left ventricular hypertrophy but to the presence of a hamartoma. Subsequently, the patient's episodes of syncope were classified as seizures, and further neurological investigation led to a diagnosis of tuberous sclerosis. This combination of her CMR imaging features and the presence of tuberous sclerosis resulted in a final diagnosis of cardiac rhabdomyoma.CMR is well established in the evaluation of patients with hypertrophic cardiomyopathy and is ideally suited to the assessment of possible cardiac tumors. Factors in determining tumor type by CMR scanning include location and imaging features, such as intensity with T1 and T2 weighting, and whether there is contrast uptake.1,2 Location and imaging features in the present case were certainly in keeping with rhabdomyoma except for the fact that there was only a single tumor, as rhabdomyomas are frequently multiple. The pattern documented in the present case suggested replacement of myocardium by abnormal tissue and supported the diagnosis of a tumor.Cardiac rhabdomyoma is found in more than 50% of children with tuberous sclerosis complex.3,4 There can be partial or complete resolution of the cardiac tumors, even as tumors elsewhere fail to regress; yet, cardiac rhabdomyoma has been documented to increase in size or appear de novo in some patients.3 Because cardiac rhabdomyoma tends to resolve, the patient is usually followed clinically unless the tumor gives rise to important left ventricular outflow tract obstruction, left ventricular failure, or arrhythmias. In this patient who has a tumor and episodes of loss of consciousness ascribed to seizures, it will be important to ensure that a future diagnosis of symptomatic arrhythmia is not missed.The online-only Data Supplement, which contains Movies I through VI, is available with this article at http://circ.ahajournals.org/cgi/content/full/117/22/ e469/DC1.Sources of FundingDr Kafka has received financial support as a Detweiler Fellow of the Royal College of Physicians and Surgeons of Canada.DisclosuresNone.FootnotesCorrespondence to Dr Henryk Kafka, Queen's University Cardiovascular Laboratory, Kidd 3, Kingston General Hospital, 76 Stuart St, Kingston, ON, Canada K7L 2V7. E-mail [email protected]References1 Luna A, Ribes R, Caro P, Vida J, Erasmus JJ. Evaluation of cardiac tumors with magnetic resonance imaging. Eur Radiol. 2005; 15: 1446–1455.CrossrefMedlineGoogle Scholar2 Restrepo CS, Largoza A, Lemos DF, Diethelm L, Koshy P, Castillo P, Gomez R, Moncada R, Pandit M. CT and MR imaging findings of benign cardiac tumors. Curr Probl Diagn Radiol. 2005; 34: 12–21.CrossrefMedlineGoogle Scholar3 Freedom RM, Lee KJ, MacDonald C, Taylor G. Selected aspects of cardiac tumors in infancy and childhood. Pediatr Cardiol. 2000; 21: 299–316.CrossrefMedlineGoogle Scholar4 Józwiak S, Kotulska K, Kasprzyk-Obara J, Domanska-Pakiela D, Tomyn-Drabik M, Roberts P, Kwiatkowski D. Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics. 2006; 118: 1146–1151.CrossrefMedlineGoogle Scholar Previous Back to top Next FiguresReferencesRelatedDetailsCited By Kumar P, Singh A, Deshmukh A and Kumar S (2020) Cardiac MRI for the evaluation of cardiac neoplasms, Clinical Radiology, 10.1016/j.crad.2019.11.014, 75:4, (241-253), Online publication date: 1-Apr-2020. Rheinboldt M and Poopat C (2010) Asymmetric septal hypertrophic cardiomyopathy: a case report, Emergency Radiology, 10.1007/s10140-010-0920-9, 18:2, (181-185), Online publication date: 1-Apr-2011. Dillman J, Mueller G, Attili A, Dorfman A, Ensing G and Gordon D (2010) Case 153: Atypical Tumefactive Hypertrophic Cardiomyopathy, Radiology, 10.1148/radiol.2541082143, 254:1, (310-313), Online publication date: 1-Jan-2010. Chao T and Sung S (2009) A Cardiac Pseudo-tumor Associated With Pseudo-infarction Electrocardiographic Pattern, Journal of the Chinese Medical Association, 10.1016/S1726-4901(09)70447-2, 72:12, (643-645), Online publication date: 1-Dec-2009. Buser P, Buck T and Plicht B (2010) Cardiac Masses and Tumours The ESC Textbook of Cardiovascular Imaging, 10.1007/978-1-84882-421-8_29, (537-554), . Chamsi-Pasha M, Anwar A, Al-Nasser I, Nosir Y, Ajam A and Chamsi-Pasha H (2009) Imaging of Ventricular Septal Tumor in an Asymptomatic Adolescent using Multiple Modalities, Echocardiography, 10.1111/j.1540-8175.2008.00850.x, 26:5, (581-585), Online publication date: 1-May-2009. June 3, 2008Vol 117, Issue 22 Advertisement Article InformationMetrics https://doi.org/10.1161/CIRCULATIONAHA.107.744904PMID: 18519852 Originally publishedJune 3, 2008 PDF download Advertisement SubjectsCardiomyopathyComputerized Tomography (CT)Imaging
Referência(s)