Risk of Sudden Death in Patients With RASopathy Hypertrophic Cardiomyopathy

被引：17

作者：

Lynch, Aine ^{[1
]}

Tatangelo, Mark ^{[2
]}

Ahuja, Sachin ^{[3
]}

Fan, Chun-Po Steve ^{[2
]}

Min, Sandar ^{[4
]}

Lafreniere-Roula, Myriam ^{[5
]}

Papaz, Tanya ^{[4
,6
]}

Zhou, Vivian ^{[4
]}

Armstrong, Kathryn ^{[7
]}

Aziz, Peter F. ^{[8
]}

Benson, Lee N. ^{[1
]}

Butts, Ryan ^{[9
]}

Dragulescu, Andreea ^{[1
]}

Gardin, Letizia ^{[10
]}

Godown, Justin ^{[11
]}

Jeewa, Aamir ^{[1
]}

Kantor, Paul F. ^{[12
]}

Kaufman, Beth D. ^{[13
]}

Lal, Ashwin K. ^{[14
]}

Parent, John J. ^{[15
]}

Richmond, Marc ^{[16
]}

Russell, Mark W. ^{[17
]}

Balaji, Seshadri ^{[18
]}

Stephenson, Elizabeth A. ^{[1
]}

Villa, Chet ^{[19
]}

Jefferies, John L. ^{[20
]}

Whitehill, Robert ^{[21
]}

Conway, Jennifer ^{[22
]}

Howard, Taylor S. ^{[23
]}

Nakano, Stephanie J. ^{[24
]}

Rossano, Joseph ^{[25
]}

Weintraub, Robert G. ^{[26
]}

Mital, Seema ^{[1
,2
,6
,27
]}

机构：

[1] Univ Toronto, Hosp Sick Children, Dept Pediat, Toronto, ON, Canada

[2] Univ Hlth Network, Ted Rogers Ctr Heart Res, Peter Munk Cardiac Ctr, Ted Rogers Computat Program, Toronto, ON, Canada

[3] Western Univ, Schulich Sch Med & Dent, London, ON, Canada

[4] Hosp Sick Children, Genet & Genome Biol, Toronto, ON, Canada

[5] Unity Hlth Toronto, Appl Hlth Res Ctr, St Michaels Hosp, Toronto, ON, Canada

[6] Ted Rogers Ctr Heart Res, Toronto, ON, Canada

[7] BC Childrens Hosp, Dept Pediat, Vancouver, BC, Canada

[8] Cleveland Clin, Dept Pediat, Childrens Hosp, Cleveland, OH USA

[9] UT Southwestern Med Ctr, Dept Pediat, Dallas, TX USA

[10] Childrens Hosp Eastern Ontario, Dept Pediat, Ottawa, ON, Canada

[11] Vanderbilt Univ, Dept Pediat, Monroe Carrell Jr Childrens Hosp, Nashville, TN USA

[12] Childrens Hosp Los Angeles, Dept Pediat, Los Angeles, CA USA

[13] Stanford Univ, Lucile Packard Childrens Hosp, Dept Pediat, Palo Alto, CA USA

[14] Univ Utah, Primary Childrens Hosp, Dept Pediat, Salt Lake City, UT USA

[15] Riley Childrens Hosp, Depart ment Pediat, Indianapolis, IN USA

[16] Columbia Univ, Morgan Stanley Childrens Hosp, Dept Pediat, Med Ctr, New York, NY USA

[17] Univ Michigan Hlth Syst, Dept Pediat, Ann Arbor, MI USA

[18] Oregon Hlth & Sci Univ, Dept Pediat, Portland, OR USA

[19] Cincinnati Childrens Hosp, Dept Pediat, Cincinnati, OH USA

[20] Univ Tennessee, Dept Pediat, Hlth Sci Ctr, Memphis, TN USA

[21] Childrens Healthcare Atlanta, Dept Pediat, Atlanta, GA USA

[22] Stollery Childrens Hosp, Dept Pediat, Edmonton, AB, Canada

[23] Texas Childrens Hosp, Dept Pediat, Houston, TX USA

[24] Childrens Hosp Colorado, Dept Pediat, Aurora, CO USA

[25] Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA USA

[26] Royal Childrens Hosp Melbourne, Dept Cardiol, Melbourne, Vic, Australia

[27] Hosp Sick Children, 555 Univ Ave, Toronto, ON M5G 1X8, Canada

来源：

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY | 2023年 / 81卷 / 11期

基金：

加拿大健康研究院;

关键词：

hypertrophic cardiomyopathy; implantable cardioverter-defibrillator; Noonan syndrome; pediatric; RASopathy; sudden cardiac death; NOONAN-SYNDROME; NATURAL-HISTORY; CHILDREN; OUTCOMES;

D O I：

10.1016/j.jacc.2023.01.012

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

BACKGROUND Genetic defects in the RAS/mitogen-activated protein kinase pathway are an important cause of hypertrophic cardiomyopathy (RAS-HCM). Unlike primary HCM (P-HCM), the risk of sudden cardiac death (SCD) and long-term survival in RAS-HCM are poorly understood. OBJECTIVES The study's objective was to compare transplant-free survival, incidence of SCD, and implantable cardioverter-defibrillator (ICD) use between RAS-HCM and P-HCM patients. METHODS In an international, 21-center cohort study, we analyzed phenotype-positive pediatric RAS-HCM (n = 188) and P-HCM (n = 567) patients. The between-group differences in cumulative incidence of all outcomes from first evaluation were compared using Gray's tests, and age-related hazard of all-cause mortality was determined. RESULTS RAS-HCM patients had a lower median age at diagnosis compared to P-HCM (0.9 years [IQR: 0.2-5.0 years] vs 9.8 years [IQR: 2.0-13.9 years], respectively) (P < 0.001). The 10-year cumulative incidence of SCD from first evaluation was not different between RAS-HCM and P-HCM (4.7% vs 4.2%, respectively; P = 0.59). The 10-year cumulative inci-dence of nonarrhythmic deaths or transplant was higher in RAS-HCM compared with P-HCM (11.0% vs 5.4%, respec-tively; P = 0.011). The 10-year cumulative incidence of ICD insertions, however, was 5-fold lower in RAS-HCM compared with P-HCM (6.9% vs 36.6%; P < 0.001). Nonarrhythmic deaths occurred primarily in infancy and SCD primarily in adolescence. CONCLUSIONS RAS-HCM was associated with a higher incidence of nonarrhythmic death or transplant but similar incidence of SCD as P-HCM. However, ICDs were used less frequently in RAS-HCM compared to P-HCM. In addition to monitoring for heart failure and timely consideration of advanced heart failure therapies, better risk stratification is needed to guide ICD practices in RAS-HCM. (J Am Coll Cardiol 2023;81:1035-1045) (c) 2023 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation. This is an open access article under the CC BY-NC -ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

引用

页码：1035 / 1045

页数：11

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