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

Asmaa Carla Hagau; Diana-Ramona Iurian; Marian Pop; Ioana Șus; Carmen Corina Șuteu; Andrei-Samuel Dunareanu; Iolanda Muntean

doi:10.2478/jce-2024-0018

Figures & Tables

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.

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.

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

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

Figures & Tables

FIGURE 1.

FIGURE 2.

FIGURE 2.

Correlation analysis of patient characteristics and cystatin C levels

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