A CASE REPORT: PKP2 GENE C.1592T>G VARIATION IN HOMOZYGOUS FORM IDENTIFIED IN ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA PATIENT

Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy. Early recognition and follow up of this disease can reduce sudden cardiac death burden. Arrhythmogenic right ventricular dysplasia is usually inherited as an autosomal dominant trait. We report a case of a young woman aged 26 years with a past history of chest pain and palpitations. During examination, abnormalities were found in results of an electrocardiogram and echocardiography. Genetic testing of the plakophilin 2 (PKP2) gene was done by direct sequencing and genetic variation “NG_009000.1: c.1592T>G” was found in a homozygote form. In family member screening in patients, parents’ variation is found in a heterozygote form, where both are healthy. In all reports, “c.1592T>G” is reported only in a heterozygous state, with no known pathogenicity. We consider that this is possibly a pathogenic mutation, inherited as an autosomal recessive trait.

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Abstract 1768: Magnetic Resonance Imaging Reveals Novel Phenotypic Expression of Desmosomal Mutation in First-Degree Relatives of Patients with Arrhythmogenic Right Ventricular Dysplasia (ARVD). Prevalence and Clinical Significance in Patients Evaluated For ARVD.

Circulation ◽

10.1161/circ.116.suppl_16.ii_374-a ◽

2007 ◽

Vol 116 (suppl_16) ◽

Author(s):

Harikrishna Tandri ◽

Darshan Dalal ◽

Aditya Jain ◽

Daniel P Judge ◽

Theodore Abraham ◽

...

Keyword(s):

Family History ◽

Right Ventricular ◽

Phenotypic Expression ◽

Clinical History ◽

Arrhythmogenic Right Ventricular Dysplasia ◽

First Degree Relatives ◽

Group 4 ◽

Right Ventricular Dysplasia ◽

History Of ◽

The Right

Background: In this report we present the prevalence and significance of a novel MRI abnormality that we identified in desmosomal mutation positive asymptomatic relatives of arrhythmogenic right ventricular dysplasia (ARVD) patients. Methods: MRI of 38 first-degree relatives was analyzed for abnormalities blinded to the mutation status. Focal crinkling of the right ventricle (accordion sign) was observed in 15/25 mutation positive vs. 0/13 mutation negative patients. The presence of this finding was sought in 207 patients evaluated for ARVD blinded to clinical history and was correlated with electrophysiologic findings. Results: Mean age of the population was 32±16, 61% had a family history of ARVD. Based on non-invasive testing the 207 patients were classified into 4 groups 1) 106 normal, 2) 57 Idiopathic ventricular tachycardia (VT), 3) 33 probable ARVD, 4) 11 definite ARVD. A family history of ARVD was present in 74%, 0%, 67% and 36% respectively. 43 patients had the “accordion sign” and the prevalence in the four groups was 10%, 5%, 70% and 100% respectively. The abnormality was seen in the sub-tricuspid region in 62%, outflow tract in 30% in both regions in 8%. After excluding group 4, 48% of patients with the accordion sign had T wave inversion’s beyond V1 compared with 7% of those without the sign (p<0.001). During electrophysiologic testing, reentrant VT could be induced in 44% (7/16) of patients with accordion sign compared to 2% (1/48) without the sign (p<0.01). Conclusion: Focal crinkling of the RV termed “Accordion sign” may represent an early manifestation of ARVD that correlates with mutation positive status and predicts inducibility of ventricular arrhythmias.

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Arrhythmogenic right ventricular dysplasia/cardiomyopathy

Cardiology in the Young ◽

10.1017/s1047951116002249 ◽

2017 ◽

Vol 27 (S1) ◽

pp. S57-S61 ◽

Cited By ~ 3

Author(s):

Gabriela M. Orgeron ◽

Jane E. Crosson

Keyword(s):

Sudden Cardiac Death ◽

Right Ventricular ◽

Cardiac Death ◽

Ventricular Arrhythmias ◽

Arrhythmogenic Right Ventricular Dysplasia ◽

Pharmacological Therapy ◽

Implantable Defibrillators ◽

Right Ventricular Dysplasia ◽

Inherited Cardiomyopathy ◽

Increased Risk

AbstractArrhythmogenic right ventricular dysplasia/cardiomyopathy is an inherited cardiomyopathy characterised by ventricular arrhythmias and an increased risk of sudden cardiac death. Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnosis is based on criteria that take into account electrical and structural cardiac abnormalities, as well as mutation analysis. Appropriate pharmacological therapy and the prevention of sudden death with implantable defibrillators are important in the management of these patients. Exercise is considered an important environmental factor for the development and progression of the disease.

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Left Ventricular Involvement in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Predicts Adverse Clinical Outcomes: A Cardiovascular Magnetic Resonance Feature Tracking Study

Scientific Reports ◽

10.1038/s41598-019-50535-z ◽

2019 ◽

Vol 9 (1) ◽

Cited By ~ 3

Author(s):

Meng-ting Shen ◽

Zhi-gang Yang ◽

Kai-yue Diao ◽

Li Jiang ◽

Yi Zhang ◽

...

Keyword(s):

Right Ventricular ◽

Myocardial Strain ◽

Radial Strain ◽

Arrhythmogenic Right Ventricular Dysplasia ◽

Left Ventricular ◽

Healthy Controls ◽

Cardiac Events ◽

Cardiac Outcomes ◽

Right Ventricular Dysplasia ◽

History Of

Abstract The aim of this study was to investigate left ventricular (LV) global myocardial strain and LV involvement characteristics in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and to evaluate their predictive value of adverse cardiac events. Sixty consecutive ARVD/C patients with a definite diagnosis of ARVD/C who underwent CMR examination and thirty-four healthy controls were enrolled retrospectively. The CMR images were analyzed for LV myocardial strain and the presence of LV involvement. The endpoint was defined as a composite of sustained ventricular tachycardia or fibrillation, cardiac death, resuscitated cardiac arrest, heart transplantation, and appropriate implantable cardioverter-defibrillator shock. LV global longitudinal (GLS), circumferential (GCS), and radial strain (GRS) were significantly impaired in ARVC/D patients compared to healthy controls (GLS: −13.89 ± 3.26% vs. −16.68 ± 2.74%, GCS: −15.65 ± 3.40% vs. −19.20 ± 2.23%, GRS: 34.57 ± 11.98% vs. 49.92 ± 12.59%; P < 0.001 for all). Even in ARVC/D patients with preserved LVEF, LV GLS, GCS and GRS were also significantly reduced than in controls. During a mean follow-up period of 4.10 ± 1.77 years, the endpoint was reached in 17 patients. LV GLS >−12.65% (HR, 3.58; 95%CI, 1.14 to 11.25; p = 0.029) and history of syncope (HR, 4.99; 95%CI, 1.88 to 13.24; p = 0.001) were the only independent predictors of cardiac outcomes. The LV myocardial deformation derived from FT CMR was significantly impaired in ARVD/C patients, and this alteration can occur before the impairment of LVEF. LV GLS >−12.65% and history of syncope were the only independent prognostic markers of adverse cardiac outcomes.

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