Homozygous PKP2 Deletion Associated with Left Ventricular Noncompaction and Arrhythmia
Published: 2021-09-03
Page: 78-82
Issue: 2021 - Volume 3 [Issue 1]
Abdalrahman Ali Ahmed Alhassan *
Pediatric Cardiology Department, Prince Khaled Bin Sultan Cardiac Centre, Armed Forces Hospital -Southern Region, Khamis Mushayt, P.O.Box 101, Zip Code: 61961, Saudi Arabia.
Tajudeen Bushari
Pediatric Cardiology Department, Prince Khaled Bin Sultan Cardiac Centre, Armed Forces Hospital -Southern Region, Khamis Mushayt, P.O.Box 101, Zip Code: 61961, Saudi Arabia.
Sami M. Al-Ahmari
Pediatric Cardiology Department, Prince Khaled Bin Sultan Cardiac Centre, Armed Forces Hospital -Southern Region, Khamis Mushayt, P.O.Box 101, Zip Code: 61961, Saudi Arabia.
Motea E. Elhoury
Pediatric Cardiology Department, Prince Khaled Bin Sultan Cardiac Centre, Armed Forces Hospital -Southern Region, Khamis Mushayt, P.O.Box 101, Zip Code: 61961, Saudi Arabia.
*Author to whom correspondence should be addressed.
Abstract
Left ventricular noncompaction cardiomyopathy (LVNC) is a genetic cardiomyopathy, characterized by prominent left ventricular trabeculations and deep intertrabecular recesses. Relatively few responsible genes have been identified. Plakophilin-2 (PKP2) is a component of the desmosome complex and is known for its role in cell-to-cell adhesion. Heterozygous variants of the PKP2 gene deletion that encoding the desmosomal protein plakophilin-2, are associated with arrhythmogenic right ventricular cardiomyopathy (ARVC). The homozygous variant of the PKP2 deletion has been described only once in a case associated with LVNC.
Here, we are reporting a total homozygous PKP2 deletion, after molecular genetic analysis of whole-exome sequencing (WES), which was identified in a 4- month boy with severe (LVNC). He presented with intractable congestive heart failure (CHF) and arrhythmia of Wolf – Parkinson - White syndrome (WPW) and ventricular tachycardia (VT). Our results support not only the association of PKP2 with ventricular noncompaction cardiomyopathy, but also WPW and VT.
Keywords: Left ventricular noncompaction, arrhythmogenic right ventricular cardiomyopathy, WES, PKP2 deletion