Narrative review of pediatric heart failure in the age of precision medicine

被引:0
作者
Valikodath, Nishma [1 ]
Godown, Justin [2 ,4 ]
Sheybani, Aryaz [3 ]
机构
[1] Monroe Carell Jr Childrens Hosp Vanderbilt, Dept Pediat, Nashville, TN USA
[2] Monroe Carell Jr Childrens Hosp Vanderbilt, Div Pediat Cardiol, Nashville, TN USA
[3] Nemours Childrens Hosp, Nemours Cardiac Ctr, Wilmington, DE USA
[4] Monroe Carell Jr Childrens Hosp, Div Pediat Cardiol, 2200 Childrens Way,Doctors Off Tower Suite 5230, Nashville, TN 37232 USA
关键词
Heart failure; pediatric; precision medicine; IDIOPATHIC RESTRICTIVE CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; DILATED CARDIOMYOPATHY; CARDIAC MANAGEMENT; NOONAN SYNDROME; OUTCOMES; DISEASE; CHILDREN; PHYSIOLOGY; INHIBITOR;
D O I
10.21037/tp-22-431
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Background and Objective: Improvement in the affordability and convenience of genetic testing has rapidly expanded the understanding of the mechanistic causes of various pediatric cardiomyopathies. Concurrently, new therapies are being developed to better-target specific pathologies as opposed to classic therapies that treat the maladaptive processes of chronic heart failure. This review will discuss the advances in genetic testing and specific therapies that have been shown to benefit or potentially benefit genetically distinct subsets of the pediatric population with heart failure or at risk of developing heart failure. Methods: We undertook a comprehensive database search (January 2000-August 2022) of PubMed, utilizing terms 'pediatric', 'cardiomyopathy', 'heart failure', 'genetics', and 'precision medicine'. Additional notable studies were obtained from ClinicalTrials.gov. Studies published in English that examine genetic basis and treatment modalities of pediatric heart failure. Key Content and Findings: New and investigational therapies for hypertrophic cardiomyopathies associated with obstruction or Noonan syndrome, Fabry cardiomyopathy, Barth syndrome, Duchenne muscular dystrophy, single ventricle failure, and heart failure in specific demographics are discussed. Conclusions: The rapid expansion of the genetic understanding of cardiomyopathy and heart failure as well as tailored therapies to specific molecular causes holds great promise for the future of pediatric heart failure treatment. Whereas conventional heart failure therapies target the maladaptive remodeling response that leads to worsening of heart failure, these therapies target the molecular causes of cardiomyopathy and heart failure in certain populations allowing for a potential to more significantly impact the clinical trajectory of pediatric heart failure.
引用
收藏
页码:503 / 513
页数:11
相关论文
共 72 条
  • [11] Barth syndrome
    Clarke, Sarah L. N.
    Bowron, Ann
    Gonzalez, Iris L.
    Groves, Sarah J.
    Newbury-Ecob, Ruth
    Clayton, Nicol
    Martin, Robin P.
    Tsai-Goodman, Beverly
    Garratt, Vanessa
    Ashworth, Michael
    Bowen, Valerie M.
    McCurdy, Katherine R.
    Damin, Michaela K.
    Spencer, Carolyn T.
    Toth, Matthew J.
    Kelly, Richard I.
    Steward, Colin G.
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2013, 8
  • [12] Current State of Pediatric Heart Failure
    Das, Bibhuti B.
    [J]. CHILDREN-BASEL, 2018, 5 (07):
  • [13] Plasma B-Type Natriuretic Peptides in Children With Cardiovascular Diseases
    Das, Bibhuti B.
    [J]. PEDIATRIC CARDIOLOGY, 2010, 31 (08) : 1135 - 1145
  • [14] Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing
    Dellefave-Castillo, Lisa M.
    Cirino, Allison L.
    Callis, Thomas E.
    Esplin, Edward D.
    Garcia, John
    Hatchell, Kathryn E.
    Johnson, Britt
    Morales, Ana
    Regalado, Ellen
    Rojahn, Susan
    Vatta, Matteo
    Nussbaum, Robert L.
    McNally, Elizabeth M.
    [J]. JAMA CARDIOLOGY, 2022, 7 (09) : 966 - 974
  • [15] Myosin Inhibition in Patients With Obstructive Hypertrophic Cardiomyopathy Referred for Septal Reduction Therapy
    Desai, Milind Y.
    Owens, Anjali
    Geske, Jeffrey B.
    Wolski, Kathy
    Naidu, Srihari S.
    Smedira, Nicholas G.
    Cremer, Paul C.
    Schaff, Hartzell
    McErlean, Ellen
    Sewell, Christina
    Li, Wanying
    Sterling, Lulu
    Lampl, Kathy
    Edelberg, Jay M.
    Sehnert, Amy J.
    Nissen, Steven E.
    [J]. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2022, 80 (02) : 95 - 108
  • [16] Predictors of morbidity and mortality in contemporary Fontan patients: results from a multicenter study including cardiopulmonary exercise testing in 321 patients
    Diller, Gerhard-Paul
    Giardini, Alessandro
    Dimopoulos, Konstantinos
    Gargiulo, Gaetano
    Mueller, Jan
    Derrick, Graham
    Giannakoulas, Georgios
    Khambadkone, Sachin
    Lammers, Astrid E.
    Picchio, Fernando Maria
    Gatzoulis, Michael A.
    Hager, Alfred
    [J]. EUROPEAN HEART JOURNAL, 2010, 31 (24) : 3073 - 3083
  • [17] Severe Lymphatic Disorder Resolved With MEK Inhibition in a Patient With Noonan Syndrome and SOS1 Mutation
    Dori, Yoav
    Smith, Chris
    Pinto, Erin
    Snyder, Kristen
    March, Michael E.
    Hakonarson, Hakon
    Belasco, Jean
    [J]. PEDIATRICS, 2020, 146 (06)
  • [18] Lesser response to angiotensin-converting-enzyme inhibitor therapy in black as compared with white patients with left ventricular dysfunction.
    Exner, DV
    Dries, DL
    Domanski, MJ
    Cohn, JN
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2001, 344 (18) : 1351 - 1357
  • [19] Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study
    Feldt-Rasmussen, Ulla
    Hughes, Derralynn
    Sunder-Plassmann, Gere
    Shankar, Suma
    Nedd, Khan
    Olivotto, Iacopo
    Ortiz, Damara
    Ohashi, Toya
    Hamazaki, Takashi
    Skuban, Nina
    Yu, Julie
    Barth, Jay A.
    Nicholls, Kathleen
    [J]. MOLECULAR GENETICS AND METABOLISM, 2020, 131 (1-2) : 219 - 228
  • [20] Franciosa Joseph A, 2010, Congest Heart Fail, V16, P27, DOI 10.1111/j.1751-7133.2009.00118.x