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Case Report

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

by
Emanuele Micaglio
1,2,†,
Lara Tondi
3,4,*,†,
Sara Benedetti
1,2,
Maria Alessandra Schiavo
5,6,
Antonia Camporeale
3,4,
Giandomenico Disabato
3,7,
Andrea Attanasio
3,7,
Gianluigi Guida
3,7,
Gianpaolo Carrafiello
8,
Massimo Piepoli
7,9,
Pietro Spagnolo
10,
Carlo Pappone
1,11,‡ and
Massimo Lombardi
3,‡
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
 
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*
Author to whom correspondence should be addressed.
†
Equally contributed as First Author.
‡
Equally contributed as Senior Author.
Int. J. Mol. Sci. 2024, 25(17), 9171; https://doi.org/10.3390/ijms25179171 (registering DOI)
Submission received: 10 July 2024 / Revised: 20 August 2024 / Accepted: 21 August 2024 / Published: 23 August 2024
(This article belongs to the Collection Cardiomyopathies: Molecular Insights and Future Perspectives)
Versions Notes

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.
Keywords: left ventricular hypertrophy; hypertrophic cardiomyopathy; PRKAG2 cardiomyopathy; cardiac magnetic resonance; genetic test left ventricular hypertrophy; hypertrophic cardiomyopathy; PRKAG2 cardiomyopathy; cardiac magnetic resonance; genetic test

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MDPI and ACS Style

Micaglio, E.; Tondi, L.; Benedetti, S.; Schiavo, M.A.; Camporeale, A.; Disabato, G.; Attanasio, A.; Guida, G.; Carrafiello, G.; Piepoli, M.; et al. 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. Int. J. Mol. Sci. 2024, 25, 9171. https://doi.org/10.3390/ijms25179171

AMA Style

Micaglio E, Tondi L, Benedetti S, Schiavo MA, Camporeale A, Disabato G, Attanasio A, Guida G, Carrafiello G, Piepoli M, et al. 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. International Journal of Molecular Sciences. 2024; 25(17):9171. https://doi.org/10.3390/ijms25179171

Chicago/Turabian Style

Micaglio, Emanuele, Lara Tondi, Sara Benedetti, Maria Alessandra Schiavo, Antonia Camporeale, Giandomenico Disabato, Andrea Attanasio, Gianluigi Guida, Gianpaolo Carrafiello, Massimo Piepoli, and et al. 2024. "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" International Journal of Molecular Sciences 25, no. 17: 9171. https://doi.org/10.3390/ijms25179171

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