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• W2124328192 abstract "HomeCirculationVol. 107, No. 4Restrictive Cardiomyopathy in Familial Amyloidosis TTR-Arg-50 Free AccessReview ArticlePDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessReview ArticlePDF/EPUBRestrictive Cardiomyopathy in Familial Amyloidosis TTR-Arg-50 R. Singer, MD, A. Schnabel, MD and R.H. Strasser, MD R. SingerR. Singer From the Medical Clinic, Speyererhof (R.S.); Department of Pathology (A.S.), University of Heidelberg, Heidelberg; and the Department of Cardiology (R.H.S.), University of Technology Dresden, Dresden, Germany. Search for more papers by this author , A. SchnabelA. Schnabel From the Medical Clinic, Speyererhof (R.S.); Department of Pathology (A.S.), University of Heidelberg, Heidelberg; and the Department of Cardiology (R.H.S.), University of Technology Dresden, Dresden, Germany. Search for more papers by this author and R.H. StrasserR.H. Strasser From the Medical Clinic, Speyererhof (R.S.); Department of Pathology (A.S.), University of Heidelberg, Heidelberg; and the Department of Cardiology (R.H.S.), University of Technology Dresden, Dresden, Germany. Search for more papers by this author Originally published4 Feb 2003https://doi.org/10.1161/01.CIR.0000050544.83092.00Circulation. 2003;107:643–644A 38-year-old woman suffered from fatigue, stress-induced dyspnea, and a chronic cough. She also was suffering from loss of body weight (4 kg within 3 months) and constipation.The patient is the third daughter of a Vietnamese family with inherited heart disease. The members of this family (third generation known to have the heart disease) suffer from fatigue, muscle weakness, atrophy, and cardiac arrhythmias. Symptoms become manifest in the early forties and lead to death after 3 to 10 years (Figure 1). Download figureDownload PowerPointFigure 1. Pedigree of the Vietnamese family. The index patients are indicated by the arrows. The third generation of the family is known to suffer from an inherited heart disease (see text).Echocardiography revealed a moderate cardiac hypertrophy with slight accentuation in the basal septum, as well as good left ventricular systolic function. Normal valves and atria could be documented.In the 99Tc-methylene-diphosphonate scan (Tc-MDP-scan), a significantly increased incorporation in the heart was observed, indicating the deposition of amyloid (Figure 2B). Download figureDownload PowerPointFigure 2. Shown is the 99Tc-MDP scan of a normal control (A) and of a patient with amyloidosis (index patient 2, B). 99Tc-MDP, which binds in the calcium-binding site of the amyloid, can clearly identify cardiac amyloidosis noninvasively with high sensitivity and specificity and thus is of major prognostic and therapeutic value, especially in families with suspected amyloidosis due to missense mutations of the transthyretin gene.In cardiac catheterization, a normal left ventricular function could be shown angiographically. Normal left ventricular and right ventricular systolic pressures were observed. Only end-diastolic pressures were significantly elevated, with a typical dip-plateau phenomenon (Figure 3). This dip-plateau phenomenon indicates the restrictive component of this form of cardiomyopathy. Download figureDownload PowerPointFigure 3. Left ventricular pressure recordings with typical dip-plateau phenomenon in the 38-year-old patient with the suspected cardiac amyloidosis (index patient 2 in the pedigree). Elevated end-diastolic pressures with a typical dip-plateau phenomenon are parameters for a restrictive form of cardiomyopathy. These are indicative of but not specific for cardiac amyloidosis.In biopsies taken from the stomach and rectum, the deposit of excessive amounts of amyloid could be visualized. Extensive deposits of amyloid were also observed in biopsies taken from the left ventricle (Figure 4). The definitive diagnosis made after noninvasive testing using the 99Tc-MDP scan can be based on the invasively taken myocardial biopsies. In the neurological test, a loss of electrical evoked sympathetic skin reaction was observed, which indicated an autonomic nerve defect. Download figureDownload PowerPointFigure 4. Histology of left ventricular biopsies of the 38-year-old patient. Cardiomyocytes are surrounded by fine fibrillar, kongo red-positive amyloid (A). In polarized light, the amyloid appears apple-green (B). The definitive diagnosis after noninvasive testing using the 99Tc-MDP scan can be based on the invasively taken myocardial biopsies.The editor of Images in Cardiovascular Medicine is Hugh A. McAllister, Jr, MD, Chief, Department of Pathology, St Luke’s Episcopal Hospital and Texas Heart Institute, and Clinical Professor of Pathology, University of Texas Medical School and Baylor College of Medicine.Circulation encourages readers to submit cardiovascular images to the Circulation Editorial Office, St Luke’s Episcopal Hospital/Texas Heart Institute, 6720 Bertner Ave, MC1-267, Houston, TX 77030.FootnotesCorrespondence to R.H. Strasser, Medical Clinic II, Department of Cardiology, University of Technology Dresden, Fetscher Str. 76, 01307 Dresden, Germany. E-mail [email protected] Previous Back to top Next FiguresReferencesRelatedDetailsCited By Lairez O, Pascal P, Victor G, Bastié D, Lavie-Badie Y, Pierre A, Cassol E and Berry I (2017) Bone scintigraphy for cardiac amyloidosis imaging: Past, present and future, Médecine Nucléaire, 10.1016/j.mednuc.2017.02.009, 41:2, (108-114), Online publication date: 1-Mar-2017. Fox P, Basso C, Thiene G and Maron B (2014) Spontaneously occurring restrictive nonhypertrophied cardiomyopathy in domestic cats: a new animal model of human disease, Cardiovascular Pathology, 10.1016/j.carpath.2013.08.001, 23:1, (28-34), Online publication date: 1-Jan-2014. González-Duarte A, Soto K, Martínez-Baños D, Arteaga-Vazquez J, Barrera F, Berenguer-Sanchez M, Cantu-Brito C, García-Ramos G and Estañol Vidal B (2012) Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation, Amyloid, 10.3109/13506129.2012.712925, 19:4, (171-176), Online publication date: 1-Dec-2012. Shirota Y, Iwata A, Ishiura H, Hashimoto M, Goto J, Shimizu J, Hanajima R, Nakajima J, Takazawa Y and Tsuji S (2010) A Case of Atypical Amyloid Polyneuropathy with Predominant Upper-limb Involvement with the Diagnosis Unexpectedly Found at Lung Operation, Internal Medicine, 10.2169/internalmedicine.49.3663, 49:15, (1627-1631), . Munar-Qués M, Masjuan J, Coelho T, Moreira P, Viader-Farré C and Saraiva M (2009) Familial amyloid polyneuropathy associated with TTRSer50Arg mutation in two Iberian families presenting a novel single base change in the mutant gene, Amyloid, 10.1080/13506120701259580, 14:2, (147-152), Online publication date: 1-Jan-2007. Kwong R and Falk R (2005) Cardiovascular Magnetic Resonance in Cardiac Amyloidosis, Circulation, 111:2, (122-124), Online publication date: 18-Jan-2005. Perugini E, Guidalotti P, Salvi F, Cooke R, Pettinato C, Riva L, Leone O, Farsad M, Ciliberti P, Bacchi-Reggiani L, Fallani F, Branzi A and Rapezzi C (2005) Noninvasive Etiologic Diagnosis of Cardiac Amyloidosis Using 99m Tc-3,3-Diphosphono-1,2-Propanodicarboxylic Acid Scintigraphy, Journal of the American College of Cardiology, 10.1016/j.jacc.2005.05.073, 46:6, (1076-1084), Online publication date: 1-Sep-2005. Conraads V (2003) Restrictive Cardiomyopathy in Familial Amyloidosis TTR-Arg-50, Circulation, 108:10, (e71-e71), Online publication date: 9-Sep-2003. February 4, 2003Vol 107, Issue 4 Advertisement Article InformationMetrics https://doi.org/10.1161/01.CIR.0000050544.83092.00PMID: 12566380 Originally publishedFebruary 4, 2003 PDF download Advertisement" @default.
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