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Arrhythmogenic Cardiomyopathy in Children. Case Series and Review of the Literature

Asmaa Carla Hagau

Asmaa Carla Hagau

  • Doctoral School of Medicine and Pharmacy, I.O.S.U.D., George Emil Palade University of Medicine, Pharmacy, Science and TechnologyTârgu Mureș, Romania
  • Clinic of Pediatric Cardiology, Emergency Institute for Cardiovascular Diseases and TransplantationTârgu Mureș, Romania
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Hagau, Asmaa Carla
, 
Diana-Ramona Iurian

Diana-Ramona Iurian

Clinic of Pediatric Cardiology, Emergency Institute for Cardiovascular Diseases and TransplantationTârgu Mureș, Romania
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Iurian, Diana-Ramona
, 
Marian Pop

Marian Pop

George Emil Palade University of Medicine, Pharmacy, Science and TechnologyTârgu Mureș, Romania
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Pop, Marian
, 
Ioana Șus

Ioana Șus

Clinic of Cardiology, Emergency Institute for Cardiovascular Diseases and TransplantationTârgu Mureș, Romania
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Șus, Ioana
, 
Carmen Corina Șuteu

Carmen Corina Șuteu

  • Clinic of Pediatric Cardiology, Emergency Institute for Cardiovascular Diseases and TransplantationTârgu Mureș, Romania
  • George Emil Palade University of Medicine, Pharmacy, Science and TechnologyTârgu Mureș, Romania
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Șuteu, Carmen Corina
, 
Andrei-Samuel Dunareanu

Andrei-Samuel Dunareanu

Clinic of Pediatric Cardiology, Emergency Institute for Cardiovascular Diseases and TransplantationTârgu Mureș, Romania
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Dunareanu, Andrei-Samuel
 and 
Iolanda Muntean

Iolanda Muntean

  • Clinic of Pediatric Cardiology, Emergency Institute for Cardiovascular Diseases and TransplantationTârgu Mureș, Romania
  • George Emil Palade University of Medicine, Pharmacy, Science and TechnologyTârgu Mureș, Romania
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Muntean, Iolanda
  
Mar 28, 2025
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Article Category: Case Series
Published Online: Mar 28, 2025
Page range: 36 - 42
Received: Jun 28, 2024
Accepted: Aug 28, 2024
DOI: https://doi.org/10.2478/jce-2024-0018
Keywords
© 2025 Asmaa Carla Hagau et al., published by Sciendo
This work is licensed under the Creative Commons Attribution 3.0 Public License.

FIGURE 1.

MRI scans from our cases. A. Apical 4-chamber view of cardiac MRI scan of the first patient reveals biventricular dilatation. B. Right ventricular vertical long-axis view scan in our second patient shows dilated right ventricle, with elevated indexed volume.
MRI scans from our cases. A. Apical 4-chamber view of cardiac MRI scan of the first patient reveals biventricular dilatation. B. Right ventricular vertical long-axis view scan in our second patient shows dilated right ventricle, with elevated indexed volume.

FIGURE 2.

Quantification of LV and RV volumes and EF using 3D speckle-tracking analysis. A. Impaired systolic function of the LV with increased volumes. B. Elevated RV volumes and reduced RV EF. C. Illustration of RV strain measurement using speckle-tracking echocardiography showing impaired values of RV GLS and RVFW-LS. ESV, end-systolic volume; EDV, end-diastolic volume; SV, stroke volume. RV GLS, right ventricular global longitudinal strain; RVFW LS, right ventricle free wall longitudinal strain.
Quantification of LV and RV volumes and EF using 3D speckle-tracking analysis. A. Impaired systolic function of the LV with increased volumes. B. Elevated RV volumes and reduced RV EF. C. Illustration of RV strain measurement using speckle-tracking echocardiography showing impaired values of RV GLS and RVFW-LS. ESV, end-systolic volume; EDV, end-diastolic volume; SV, stroke volume. RV GLS, right ventricular global longitudinal strain; RVFW LS, right ventricle free wall longitudinal strain.

FIGURE 2.

Apical 4-chamber view (2D) shows the dilated RV with an aneurysmal apex, and the ICD lead is visible.
Apical 4-chamber view (2D) shows the dilated RV with an aneurysmal apex, and the ICD lead is visible.

Correlation analysis of patient characteristics and cystatin C levels

Case 1 Case 2 Case 3 Case 4
Age at diagnosis 1.4 years 12 years 12 years 17 years
Symptoms

Intolerance to physical exertion

Palpitations

Dizziness

Precordial pain

Intolerance to physical exertion

Palpitations

Diaphoresis

Cardiac arrest

Intolerance to physical exertion

Weakness

Extreme fatigue
Family history –

Father and sister DCM and SCD

Brother DCM

Uncle WPW syndrome

Uncle HCM

Uncle PVC with LBBB morphology

Grandfather SCD
ECG

Negative T waves in V1–V4

Negative T waves in V1–V4

Negative T waves in V2–V5

Diffuse concave ST-segment elevation

PVC with LBBB morphology

Negative T waves in V1–V3

RBBB

Left anterior fascicular hemiblock
Holter ECG

Multifocal PVCs with LBBB morphology

Multifocal PVCs with RBBB and LBBB morphology

Non-sustained VT

Multifocal PVCs with RBBB and LBBB morphology

Multifocal PVCs with RBBB and LBBB morphology

Non-sustained VT
Echocardiography

Mildly dilated LV, initial LVEF 50%, then 60–65%

Mild mitral insufficiency

Mildly dilated LV, LVEF 50%

Minor mitral insufficiency

RV hypokinesia and dyskinesia of RV free wall, RV apical aneurysm

Severely dilated LV, LVEF 15%

Thrombosis of the walls and apex of both ventricles
MRI

LVEF 57%, segmental hypokinesia

RVEF 46.5%, increased indexed volume (118 ml/m2), dilatation of the anterior portion of the RV free wall

LVEF 52%, mild inferior and inferoseptal hypokinesia

RVEF 43%, increased indexed volume (93.8 ml/m2), regional dyskinesia of the RV free wall

LVEF 60.5%, with depressed global longitudinal strain (−14.6)

RVEF 41%

LVEF 27%, global hypokinesia

Subendocardial fibrotic lesions

RVEF 51%, increased indexed volume (221 ml/m2) with accentuated trabeculae
Genetics Mutation in the TTN gene (VUS) Mutation in the TTN gene (VUS) Mutation in the FLNC gene (VUS) Mutation in the DSC2 gene (VUS)
Treatment Pharmacological ICD implantation ICD implantation ICD implantation
Language:
English
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Journal Subjects:
Medicine, Clinical Medicine, Internal Medicine, Cardiology, Emergency Medicine and Intensive-Care Medicine, Radiology
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