When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in PRKAG2 Gene Causing Left Ventricular Hypertrophy and Conduction Abnormalities in a Caucasian Patient: Case Report and Literature Review

Author:

Micaglio Emanuele12ORCID,Tondi Lara34ORCID,Benedetti Sara12,Schiavo Maria Alessandra56,Camporeale Antonia34ORCID,Disabato Giandomenico37ORCID,Attanasio Andrea37,Guida Gianluigi37,Carrafiello Gianpaolo8,Piepoli Massimo79,Spagnolo Pietro10,Pappone Carlo111,Lombardi Massimo3

Affiliation:

1. Arrhythmology Department, IRCCS Policlinico San Donato, Piazza E. Malan, San Donato Milanese, 20097 Milan, Italy

2. Institute for Molecular and Translational Cardiology (IMTC), IRCCS Policlinico San Donato, Piazza E. Malan, San Donato Milanese, 20097 Milan, Italy

3. Multimodality Cardiac Imaging Section, IRCCS Policlinico San Donato, Piazza E. Malan, San Donato Milanese, 20097 Milan, Italy

4. Postgraduate School in Radiodiagnostics, Università degli Studi di Milano, 20122 Milan, Italy

5. Cardiology Unit IRCCS Azienda, Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy

6. Department of Experimental, Diagnostic and Specialty Medicine University of Bologna, 40138 Bologna, Italy

7. Clinical Cardiology, IRCCS Policlinico San Donato, Piazza E. Malan, San Donato Milanese, 20097 Milan, Italy

8. Department of Diagnostic and Interventional Radiology, Foundation IRCCS Ca’ Granda-Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy

9. Department of Biomedical Sciences for Health, University of Milan, Via Festa del Perdono 7, 20122 Milan, Italy

10. Unit of Radiology, IRCCS Policlinico San Donato, Piazza E. Malan, San Donato Milanese, 20097 Milan, Italy

11. Department of Cardiology, Vita-Salute San Raffaele University, 20132 Milan, Italy

Abstract

PRKAG2 cardiomyopathy is a rare genetic disorder that manifests early in life with an autosomal dominant inheritance pattern. It harbors left ventricular hypertrophy (LVH), ventricular pre-excitation and progressively worsening conduction system defects. Its estimated prevalence among patients with LVH ranges from 0.23 to about 1%, but it is likely an underdiagnosed condition. We report the association of the PRKAG2 missense variant c.1006G>A p. (Val336Ile) with LVH, conduction abnormalities (short PR interval and incomplete right bundle branch bock) and early-onset arterial hypertension (AH) in a 44-year-old Caucasian patient. While cardiac magnetic resonance (CMR) showed a mild hypertrophic phenotype with maximal wall thickness of 17 mm in absence of tissue alterations, the electric phenotype was relevant including brady–tachy syndrome and recurrent syncope. The same variant has been detected in the patient’s sister and daughter, with LVH + early-onset AH and electrocardiographic (ECG) alterations + lipothymic episodes, respectively. Paying close attention to the coexistence of LVH and ECG alterations in the proband has been helpful in directing genetic tests to exclude primary cardiomyopathy. Hence, identifying the genetic basis in the patient allowed for familial screening as well as a proper follow-up and therapeutic management of the affected members. A review of the PRKAG2 cardiomyopathy literature is provided alongside the case report.

Publisher

MDPI AG

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