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ISSN: 1734-1922
Archives of Medical Science
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6/2020
vol. 16
 
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Cardiology
abstract:
Letter to the Editor

A novel truncating variant in the LAMP2 gene in a young woman with hypertrophic cardiomyopathy and variable clinical course in the family

Ewa Michalak
1
,
Maria Franaszczyk
2
,
Malgorzata Sobieszczanska-Malek
3
,
Maciej Karcz
4
,
Sylwia Szymanska
5
,
Justyna Szczygiel
6
,
Anna Lutynska
2
,
Rafal Ploski
7
,
Zofia T. Bilinska
1

1.
Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, Warsaw, Poland
2.
Department of Medical Biology, Molecular Biology Laboratory, Institute of Cardiology, Warsaw, Poland
3.
Department of Heart Failure and Transplantology, Institute of Cardiology, Warsaw, Poland
4.
Department of Interventional Cardiology and Angiology, Institute of Cardiology, Warsaw, Poland
5.
Department of Pathology, The Children’s Memorial Health Institute, Warsaw, Poland
6.
Department of Cardiomyopathy, Institute of Cardiology, Warsaw, Poland
7.
Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland
Arch Med Sci 2020; 16 (6): 1464–1469
Online publish date: 2019/10/09
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Danon disease is a rare X-linked dominant disorder caused by mutations in the lysosome-associated membrane protein 2 gene (LAMP2) [1, 2]. Reports on the phenotype of Danon disease are largely focused on severe phenotype of young male patients, who present with the classical triad of massive left ventricular hypertrophy often accompanied by Wolff-Parkinson-White syndrome (WPW) on electrocardiogram, peripheral myopathy and mental retardation [1, 3, 4]. In the present study, we describe variability in clinical expression, namely severe heart failure due to hypertrophic cardiomyopathy leading to heart transplantation at the age of 18 years in the female proband and asymptomatic course without left ventricular hypertrophy or systolic dysfunction in the proband’s mother, both of them carriers of a novel truncating variant in the LAMP2 gene.
The 18-year-old woman with hypertrophic cardiomyopathy diagnosed at 12 years, with complex ventricular arrhythmias leading to implantable cardioverter defibrillator (ICD) treatment in primary prevention was referred to the Institute of Cardiology, Warsaw, due to extreme fatigue, shortness of breath during small activity (30 m walk distance), progressive dyspnea while in a lying position, and periodic blood pressure drops to 60/40 mm Hg as a result of severe heart failure. She had no intellectual impairment. Her father died at the age of 36 years due to an extracardiac cause, and her mother was asymptomatic with normal noninvasive cardiological examinations.
Physically her heart rate was regular, 60 beats per minute, blood pressure was low, 85/60 mm Hg, the stomach was bloated and sensitive with no acute abdominal signs. Cardiac examination revealed no murmur and lung fields were bilaterally clear in auscultation. The liver was enlarged. No peripheral edema was noted. The proband’s standard 12-lead ECG showed sinus rhythm 72 bpm, normal PR interval 124 ms, left bundle branch block with fragmented QRS of 194 ms duration (Figure 1). Transthoracic echocardiography revealed normal left ventricular size with moderate symmetric wall thickening (max 18.2 mm) without left ventricular outflow tract obstruction and discrete granular sparkling appearance of the interventricular septum (Figure 2). Left ventricular systolic function was severely decreased (LVEF 25%) with contraction asynchrony (Figure 3 A) and reduced left ventricular outflow tract velocity-time integral (11.7 cm). Doppler-derived LV diastolic filling...


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