A case with two faces: noncompaction or phospholamban cardiomyopathy?

被引：0

作者：

Wijchers, Sip ^{[1
]}

Thuesen, Jan H. von der ^{[2
]}

Robertus, Jan Lukas ^{[3
]}

Caliskan, Kadir ^{[1
,4
]}

机构：

[1] Erasmus MC Univ Med Ctr, Dept Cardiol, Rotterdam, Netherlands

[2] Erasmus MC Univ Med Ctr, Dept Pathol, Rotterdam, Netherlands

[3] Imperial Coll, Dept Pathol, London, England

[4] Univ Med Ctr, Erasmus MC, Room RG 431,Dr Molewaterplein 40, NL-3015 GD Rotterdam, Netherlands

来源：

CARDIOVASCULAR PATHOLOGY | 2022年 / 57卷

关键词：

noncompaction; phospholamban; cardiomyopathy; heart transplant; LEFT-VENTRICULAR NONCOMPACTION; DILATED CARDIOMYOPATHY; NON-COMPACTION; MUTATION; GENETICS; LETHAL;

D O I：

10.1016/j.carpath.2021.107395

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Noncompaction cardiomyopathy is a well-known clinical entity, whereas phospholamban gene mutation is a relatively recently known mutation with phenotypes as arrhythmogenic cardiomyopathy and dilated cardiomyopathy. We report the case of a 15-year-old girl that presents with rapid progressive heart fail-ure based on a noncompaction cardiomyopathy as confirmed through cardiovascular imaging. As a result of her progressive heart failure 22 months later she received a heart transplant. Genetic testing showed a phospholamban gene mutation. We present cardiovascular images together with macroscopic and micro-scopic anatomy. This case shows the importance of considering phospholamban gene mutation in a case of severe noncompaction cardiomyopathy.(c) 2021 The Author(s). Published by Elsevier Inc. This is an open access article under the CC BY license ( http://creativecommons.org/licenses/by/4.0/ )

引用

页数：4

共 17 条

[1] CALCINEURIN ASSOCIATED WITH THE INOSITOL 1,4,5-TRISPHOSPHATE RECEPTOR-FKBP12 COMPLEX MODULATES CA2+ FLUX [J].

CAMERON, AM ;

STEINER, JP ;

ROSKAMS, AJ ;

ALI, SM ;

RONNETT, GV ;

SNYDER, SH .

CELL, 1995, 83 (03) :463-472

[2] Exon 3 Deletion of Ryanodine Receptor Causes Left Ventricular Noncompaction, Worsening Catecholaminergic Polymorphic Ventricular Tachycardia, and Sudden Cardiac Arrest [J].

Campbell, Matthew J. ;

Czosek, Richard J. ;

Hinton, Robert B. ;

Miller, Erin M. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (09) :2197-2200

[3] Formation and Malformation of Cardiac Trabeculae: Biological Basis, Clinical Significance, and Special Yield of Magnetic Resonance Imaging in Assessment [J].

Captur, Gabriella ;

Syrris, Petros ;

Obianyo, Chinwe ;

Limongelli, Giuseppe ;

Moon, James C. .

CANADIAN JOURNAL OF CARDIOLOGY, 2015, 31 (11) :1325-1337

[4] A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy [J].

Haghighi, K ;

Kolokathis, F ;

Gramolini, AO ;

Waggoner, JR ;

Pater, L ;

Lynch, RA ;

Fan, GC ;

Tsiapras, D ;

Parekh, RR ;

Dorn, GW ;

MacLennan, DH ;

Kremastinos, DT ;

Kranias, EG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (05) :1388-1393

[5] Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human [J].

Haghighi, K ;

Kolokathis, F ;

Pater, L ;

Lynch, RA ;

Asahi, M ;

Gramolini, AO ;

Fan, GC ;

Tsiapras, D ;

Hahn, HS ;

Adamopoulos, S ;

Liggett, SB ;

Dorn, GW ;

MacLennan, DH ;

Kremastinos, DT ;

Kranias, EG .

JOURNAL OF CLINICAL INVESTIGATION, 2003, 111 (06) :869-876

[6] Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy [J].

Jenni, R ;

Oechslin, E ;

Schneider, J ;

Jost, CA ;

Kaufmann, PA .

HEART, 2001, 86 (06) :666-671

[7] Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals [J].

Kayvanpour, Elham ;

Sedaghat-Hamedani, Farbod ;

Amr, Ali ;

Lai, Alan ;

Haas, Jan ;

Holzer, Daniel B. ;

Frese, Karen S. ;

Keller, Andreas ;

Jensen, Katrin ;

Katus, Hugo A. ;

Meder, Benjamin .

CLINICAL RESEARCH IN CARDIOLOGY, 2017, 106 (02) :127-139

[8] Mutations in the human phospholamban gene in patients with heart failure [J].

Medeiros, Alessandra ;

Biagi, Diogo G. ;

Sobreira, Tiago J. P. ;

de Oliveira, Paulo Sergio L. ;

Negrao, Carlos Eduardo ;

Mansur, Alfredo J. ;

Krieger, Jose Eduardo ;

Brum, Patricia C. ;

Pereira, Alexandre C. .

AMERICAN HEART JOURNAL, 2011, 162 (06) :1088-U184

[9] PATTERNS OF EXPRESSION OF SARCOPLASMIC-RETICULUM CA2+-ATPASE AND PHOSPHOLAMBAN MESSENGER-RNAS DURING RAT-HEART DEVELOPMENT [J].

MOORMAN, AFM ;

VERMEULEN, JLM ;

KOBAN, MU ;

SCHWARTZ, K ;

LAMERS, WH ;

BOHELER, KR .

CIRCULATION RESEARCH, 1995, 76 (04) :616-625

[10] Left ventricular non-compaction - Insights from cardiovascular magnetic resonance imaging [J].

Petersen, SE ;

Selvanayagam, JB ;

Wiesmann, F ;

Robson, MD ;

Francis, JM ;

Anderson, RH ;

Watkins, H ;

Neubauer, S .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2005, 46 (01) :101-105

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