Clinical Outcome of Hypertrophic Cardiomyopathy in Probands with the Founder Variant c.913_914del in MYBPC3: A Slovenian Cohort Study

被引：1

作者：

Vodnjov, Nina ^{[1
,2
]}

Maver, Ales ^{[1
,4
]}

Teran, Natasa ^{[1
]}

Peterlin, Borut ^{[1
]}

Toplisek, Janez ^{[3
]}

Writzl, Karin ^{[1
,4
,5
]}

机构：

[1] Univ Med Ctr Ljubljana, Clin Inst Genom Med, Ljubljana, Slovenia

[2] Univ Ljubljana, Biotech Fac, Ljubljana, Slovenia

[3] Univ Med Ctr Ljubljana, Dept Cardiol, Ljubljana, Slovenia

[4] Univ Ljubljana, Fac Med, Ljubljana, Slovenia

[5] European Reference Network rare, low prevalence & complex Dis heart ERN GUARD Heart, Amsterdam, Netherlands

来源：

JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH | 2025年 / 18卷 / 01期

关键词：

Cardiogenetics; Cardiology; MYBPC3; Hypertrophic Cardiomyopathy; HCM; C.913_914del; MYBPC3: c.913_914del; AMERICAN-COLLEGE; ASSOCIATION; MUTATION; SOCIETY; GUIDELINES; DIAGNOSIS; GENOMICS;

D O I：

10.1007/s12265-024-10551-5

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hypertrophic cardiomyopathy is often caused by pathogenic MYBPC3 variants. The study of Italian patients with HCM and MYBPC3(NM_000256.3):c.913_914del showed a higher disease penetrance in males and a higher frequency of arrhythmias compared to patients with other likely pathogenic and pathogenic (LP/P) MYBPC3 variants. We investigated the clinical outcomes of Slovenian probands with MYBPC3 LP/P variants, estimated the variant penetrance and compared the results with an Italian study. We identified 31 haplotype-matched individuals with MYBPC3:c.913_914del and 34 individuals with other LP/P MYBPC3 variants. We observed some significant differences in clinical and echocardiographic characteristics and frequency of adverse cardiac events between Slovenian and Italian probands with MYBPC3:c913_914del. We were unable to replicate previous findings for MYBPC3:c.913_914del, highlighting the complexity of genotype-phenotype associations.

引用

页码：110 / 120

页数：11

共 31 条

[1] Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation [J].

Ales, Mayer ;

Luca, Lovrecic ;

Marija, Volk ;

Gorazd, Rudolf ;

Karin, Writzl ;

Ana, Blatnik ;

Alenka, Hodzic ;

Peterlin, Borut .

GENETICS IN MEDICINE, 2016, 18 (11) :1102-1110

[2] 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines (vol 142, e558, 2020) [J].

Ommen .

CIRCULATION, 2020, 142 (25) :e633-e633

[3] 2023 ESC Guidelines for the management of cardiomyopathies Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC) [J].

Arbelo, Elena ;

Protonotarios, Alexandros ;

Gimeno, Juan R. ;

Arbustini, Eloisa ;

Barriales-Villa, Roberto ;

Basso, Cristina ;

Bezzina, Connie R. ;

Biagini, Elena ;

Blom, Nico A. ;

de Boer, Rudolf A. ;

De Winter, Tim ;

Elliott, Perry M. ;

Flather, Marcus ;

Garcia-Pavia, Pablo ;

Haugaa, Kristina H. ;

Ingles, Jodie ;

Jurcut, Ruxandra Oana ;

Klaassen, Sabine ;

Limongelli, Giuseppe ;

Loeys, Bart ;

Mogensen, Jens ;

Olivotto, Iacopo ;

Pantazis, Antonis ;

Sharma, Sanjay ;

Van Tintelen, J. Peter ;

Ware, James S. ;

Kaski, Juan Pablo .

EUROPEAN HEART JOURNAL, 2023, 44 (37) :3503-3626

[4] Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy [J].

Beltrami, Matteo ;

Fedele, Elisa ;

Fumagalli, Carlo ;

Mazzarotto, Francesco ;

Girolami, Francesca ;

Ferrantini, Cecilia ;

Coppini, Raffaele ;

Tofani, Lorenzo ;

Bertaccini, Bruno ;

Poggesi, Corrado ;

Olivotto, Iacopo .

CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2023, 16 (04) :363-371

[5] Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases [J].

Bergant, Gaber ;

Maver, Ales ;

Lovrecic, Luca ;

Cuturilo, Goran ;

Hodzic, Alenka ;

Peterlin, Borut .

GENETICS IN MEDICINE, 2018, 20 (03) :303-312

[6] CARDIAC MYOSIN BINDING PROTEIN-C GENE SPLICE ACCEPTOR SITE MUTATION IS ASSOCIATED WITH FAMILIAL HYPERTROPHIC CARDIOMYOPATHY [J].

BONNE, G ;

CARRIER, L ;

BERCOVICI, J ;

CRUAUD, C ;

RICHARD, P ;

HAINQUE, B ;

GAUTEL, M ;

LABEIT, S ;

JAMES, M ;

BECKMANN, J ;

WEISSENBACH, J ;

VOSBERG, HP ;

FISZMAN, M ;

KOMAJDA, M ;

SCHWARTZ, K .

NATURE GENETICS, 1995, 11 (04) :438-440

[7] A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life [J].

Calore, Chiara ;

De Bortoli, Marzia ;

Romualdi, Chiara ;

Lorenzon, Alessandra ;

Angelini, Annalisa ;

Basso, Cristina ;

Thiene, Gaetano ;

Iliceto, Sabino ;

Rampazzo, Alessandra ;

Melacini, Paola .

JOURNAL OF MEDICAL GENETICS, 2015, 52 (05) :338-347

[8] Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis [J].

Christian, Susan ;

Cirino, Allison ;

Hansen, Brittany ;

Harris, Stephanie ;

Murad, Andrea M. ;

Natoli, Jaime L. ;

Malinowski, Jennifer ;

Kelly, Melissa A. .

OPEN HEART, 2022, 9 (01)

[9] Co-inheritance of mutations associated with arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy [J].

De Bortoli, Marzia ;

Calore, Chiara ;

Lorenzon, Alessandra ;

Calore, Martina ;

Poloni, Giulia ;

Mazzotti, Elisa ;

Rigato, Ilaria ;

Marra, Martina Perazzolo ;

Melacini, Paola ;

Iliceto, Sabino ;

Thiene, Gaetano ;

Basso, Cristina ;

Daliento, Luciano ;

Corrado, Domenico ;

Rampazzo, Alessandra ;

Bauce, Barbara .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2017, 25 (10) :1165-1169

[10]

Ellard S., 2020, ACGS best practice guidelines for variant classification in rare disease 2020, DOI [10.1101/531210, DOI 10.1101/531210]

← 1 2 3 4 →