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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 10
1999 1
2000 1
2001 2
2008 1
2010 1
2011 1
2012 4
2013 2
2014 1
2015 1
2016 4
2018 2
2019 1
2020 3
2021 3
2022 4
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38 results

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Page 1
Long-term safety and efficacy of triheptanoin in Korean patients with long-chain fatty acid oxidation disorders: a prospective, open-label, single-center, phase II clinical study.
Yoon JH, Park JH, Kim D, Hwang S, Park J, Kim JH, Choi S, Ko E, Lee BJ, Moon Y, Lee BH. Yoon JH, et al. BMC Med Genomics. 2026 May 16. doi: 10.1186/s12920-026-02390-x. Online ahead of print. BMC Med Genomics. 2026. PMID: 42143327 Free article.
BACKGROUND: Long-chain fatty acid oxidation disorders (LC-FAOD) are inherited metabolic conditions caused by impaired mitochondrial beta-oxidation of long-chain fatty acids, leading to rhabdomyolysis, cardiomyopathy, and hypoglycemia. ...Secondary outcomes included …
BACKGROUND: Long-chain fatty acid oxidation disorders (LC-FAOD) are inherited metabolic conditions caused by impaired mitochondrial b …
"What impact does having a diagnosis of an inherited cardiac condition have on children and young people's physical activity and quality of life?" A scoping review.
Kendall S, Murugaperumal VMK, Greco A, Prendiville T, Dempster M, McKeown P, Casey F. Kendall S, et al. Eur J Pediatr. 2026 Jan 6;185(1):55. doi: 10.1007/s00431-025-06658-9. Eur J Pediatr. 2026. PMID: 41493623 Free PMC article.
Being affected by an inherited cardiac condition is associated with poorer heatlth related quality of life. WHAT IS NEW: Children and young people have lower reported and measured PA in comparison to healthy peers (in excess of that adv …
Being affected by an inherited cardiac condition is associated with poorer heatlth related quality of life …
Advancements and challenges in pediatric dilated cardiomyopathy: a comprehensive review of current approaches and future directions.
López-Guillén JL, Esmel-Vilomara R, Rodoman I, Constante AD, Kendall S, Freixa-Benavente A, Diaz-Gil D, Cantarutti N, Moscatelli S, Jeewa A. López-Guillén JL, et al. Eur J Pediatr. 2025 Aug 12;184(9):546. doi: 10.1007/s00431-025-06263-w. Eur J Pediatr. 2025. PMID: 40794194 Review.
Cardiomyopathies pose a significant risk of morbidity and mortality worldwide, with dilated cardiomyopathy (DCM) recognized as the leading cause of pediatric heart transplantation. ...Furthermore, transitional care, structured exercise recommendations, and early int …
Cardiomyopathies pose a significant risk of morbidity and mortality worldwide, with dilated cardiomyopathy (DCM) recognized as …
Cardiopulmonary Fitness and Physical Activity Among Children and Adolescents With Inherited Cardiac Disease.
Souilla L, Werner O, Huguet H, Gavotto A, Vincenti M, Pasquie JL, De La Villeon G, Guillaumont S, Pommier V, Matecki S, Baruteau AE, Beyler C, Delclaux C, Denjoy I, Charron P, Chevalier P, Delinière A, Andrianoely M, Cornuault L, Besnard-Neyraud C, Sacher F, Reant P, Mottet D, Picot MC, Amedro P; Quality of Life in Children With Inherited Cardiomyopathy or Arrhythmia (QUALIMYORYTHM) Study Group. Souilla L, et al. JAMA Netw Open. 2025 Feb 3;8(2):e2461795. doi: 10.1001/jamanetworkopen.2024.61795. JAMA Netw Open. 2025. PMID: 39998828 Free PMC article. Clinical Trial.
IMPORTANCE: Historical restrictions on children with inherited cardiac arrhythmia or cardiomyopathy have been implemented to mitigate the potential risk of sudden death, but these limitations can be detrimental to overall health and cardiopulmon …
IMPORTANCE: Historical restrictions on children with inherited cardiac arrhythmia or cardiomyopathy have …
Primary Carnitine Deficiency.
El-Hattab AW, Almannai M. El-Hattab AW, et al. 2012 Mar 15 [updated 2024 Dec 5]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2012 Mar 15 [updated 2024 Dec 5]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 22420015 Free Books & Documents. Review.
MANAGEMENT: Targeted therapy: Metabolic decompensation and skeletal and cardiac muscle function improve with 100-200 mg/kg/day oral levocarnitine if it is started before irreversible organ damage occurs. ...Assess growth and development at each visit throughout childhood. …
MANAGEMENT: Targeted therapy: Metabolic decompensation and skeletal and cardiac muscle function improve with 100-200 mg/kg/day oral l …
Long-term effect of mavacamten in obstructive hypertrophic cardiomyopathy.
Garcia-Pavia P, Oręziak A, Masri A, Barriales-Villa R, Abraham TP, Owens AT, Jensen MK, Wojakowski W, Seidler T, Hagege A, Lakdawala NK, Wang A, Wheeler MT, Choudhury L, Balaratnam G, Shah A, Fox S, Hegde SM, Olivotto I. Garcia-Pavia P, et al. Eur Heart J. 2024 Dec 16;45(47):5071-5083. doi: 10.1093/eurheartj/ehae579. Eur Heart J. 2024. PMID: 39217450 Free PMC article.
BACKGROUND AND AIMS: Long-term safety and efficacy of mavacamten in patients with obstructive hypertrophic cardiomyopathy (HCM) are unknown. MAVA-LTE (NCT03723655) is an ongoing, 5-year, open-label extension study designed to evaluate the long-term effects of mavacamten. . …
BACKGROUND AND AIMS: Long-term safety and efficacy of mavacamten in patients with obstructive hypertrophic cardiomyopathy (HCM) are u …
Bezafibrate as treatment in males for Barth syndrome: CARDIOMAN, a double-blind, placebo-controlled crossover RCT.
Pieles G, Steward C, Dabner L, Collet L, Culliford L, Sheehan K, Ellis L, Damin M, Sammut E, Duarte N, Burgess O, Wadey C, Williams C, Crosby J, Groves S, Searle A, Amulic B, Rice C, Bucciarelli-Ducci C, Ness A, Hamilton-Shield J, Rogers CA, Reeves BC. Pieles G, et al. Southampton (UK): National Institute for Health and Care Research; 2024 Aug. Southampton (UK): National Institute for Health and Care Research; 2024 Aug. PMID: 39250567 Free Books & Documents. Review.
Previous research suggests that bezafibrate may ameliorate cellular lipid abnormalities and reduce cardiac dysfunction in an animal model. OBJECTIVES: 1. Estimate the effect of bezafibrate on clinical, biochemical, and quality-of-life outcomes. 2. ...B …
Previous research suggests that bezafibrate may ameliorate cellular lipid abnormalities and reduce cardiac dysfunction in an animal m …
Pediatric dilated cardiomyopathy: a review of current clinical approaches and pathogenesis.
Malinow I, Fong DC, Miyamoto M, Badran S, Hong CC. Malinow I, et al. Front Pediatr. 2024 Jun 19;12:1404942. doi: 10.3389/fped.2024.1404942. eCollection 2024. Front Pediatr. 2024. PMID: 38966492 Free PMC article. Review.
Patient age, etiology of disease, and parameters of cardiac function significantly impact prognosis. Treatments for pediatric DCM aim to ameliorate symptoms, reduce progression of disease, and prevent life-threatening arrhythmias. ...The overarching goal is t …
Patient age, etiology of disease, and parameters of cardiac function significantly impact prognosis. Treatments for pediatric DCM aim …
Alpha-Mannosidosis.
Ficicioglu C, Stepien KM. Ficicioglu C, et al. 2001 Oct 11 [updated 2024 Jun 13]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2001 Oct 11 [updated 2024 Jun 13]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301570 Free Books & Documents. Review.
Long-term velmanase alfa (VA) treatment outcomes are still being elucidated, but may include improvement in hearing, immunologic profile, and quality of life (improved clinical outcomes for muscle strength). Similarly, affected individuals who underwent hemat …
Long-term velmanase alfa (VA) treatment outcomes are still being elucidated, but may include improvement in hearing, immunologic profile, an …
Cardiac MRI in diagnosis, prognosis, and follow-up of hypertrophic cardiomyopathy in children: current perspectives.
Spaapen TOM, Bohte AE, Slieker MG, Grotenhuis HB. Spaapen TOM, et al. Br J Radiol. 2024 May 7;97(1157):875-881. doi: 10.1093/bjr/tqae033. Br J Radiol. 2024. PMID: 38331407 Free PMC article. Review.
Hypertrophic Cardiomyopathy (HCM) is an inherited myocardial disease characterised by left ventricular hypertrophy, which carries an increased risk of life-threatening arrhythmias and sudden cardiac death. The age of presentation and the underly …
Hypertrophic Cardiomyopathy (HCM) is an inherited myocardial disease characterised by left ventricular hypertrophy, which carr …
38 results