Childhood Hypertrophic Cardiomyopathy: A Disease of the Cardiac Sarcomere

Norrish, Gabrielle; Field, Ella; Kaski, Juan Pablo

doi:10.3389/fped.2021.708679

Cited by 10 publications

(16 citation statements)

References 95 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“… 57 In addition, especially young family members should be considered for early screening, as the phenotype of HCM is varied and includes a higher risk of adverse outcomes when diagnosed during childhood. 4 , 55 , 58 This early screening is in line with the current 2020 AHA/ACC guidelines, which endorses to clinically (and genetically) screen younger at-risk family members at any age, instead of starting from the previously recommended age of ten years. 1 , 59 Also, implementation of repeated clinical assessment is required throughout child- and adulthood.…”

Section: Cmr For Family Screeningsupporting

confidence: 64%

“… 1 As childhood is known to be a time of significant HCM development and progression, it is likely that the varying diagnostic CMR values reflect a changing cardiac phenotype over time. 55 The increased development and progression of hypertrophy of the LV myocardium in paediatric HCM patients is well-known. 56 In addition, Axelsson-Raja et al and Ali et al have described the progressive nature of myocardial fibrosis in paediatric HCM patients using LGE in follow-up CMR.…”

Section: Cmr In Clinical Follow-upmentioning

confidence: 99%

See 1 more Smart Citation

Cardiac MRI in diagnosis, prognosis, and follow-up of hypertrophic cardiomyopathy in children: current perspectives

Spaapen,

Bohte,

Slieker

et al. 2024

British Journal of Radiology

View full text Add to dashboard Cite

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 underlying aetiology have a significant impact on the prognosis and quality of life of children with HCM, as childhood-onset HCM is associated with high mortality risk and poor long-term outcomes. Accurate cardiac assessment and identification of the HCM phenotype are therefore crucial to determine the diagnosis, prognostic stratification, and follow-up. Cardiac magnetic resonance (CMR) is a comprehensive evaluation tool capable of providing information on cardiac morphology and function, flow, perfusion, and tissue characterisation. CMR allows to detect subtle abnormalities in the myocardial composition and characterise the heterogeneous phenotypic expression of HCM. In particular, the detection of the degree and extent of myocardial fibrosis, using late-gadolinium enhanced sequences or parametric mapping, is unique for CMR and is of additional value in the clinical assessment and prognostic stratification of paediatric HCM patients. Additionally, childhood HCM can be progressive over time. The rate, timing, and degree of disease progression vary from one patient to the other, so close cardiac monitoring and serial follow-up throughout the life of the diagnosed patients is of paramount importance. In this review, an update of the use of CMR in childhood HCM is provided, focussing on its clinical role in diagnosis, prognosis, and serial follow-up.

show abstract

Section: Cmr For Family Screeningsupporting

confidence: 64%

Section: Cmr In Clinical Follow-upmentioning

confidence: 99%

Cardiac MRI in diagnosis, prognosis, and follow-up of hypertrophic cardiomyopathy in children: current perspectives

Spaapen,

Bohte,

Slieker

et al. 2024

British Journal of Radiology

View full text Add to dashboard Cite

show abstract

“…Hypertrophic cardiomyopathy has an annual incidence between 0.24 and 0.47/100,000 in pediatric population ( 1 ). Complications such as heart failure and SCD are well-described, being sudden cardiac death the most common cause of death in children affected with hypertrophic cardiomyopathy (1–2 vs. 0.8%/year) ( 1 ). In fact, children with hypertrophic cardiomyopathy seem to be at higher risk of developing malignant arrhythmias ( 5 ).…”

Section: Discussionmentioning

confidence: 99%

“…Sudden cardiac death (SCD) is the most common cause of death in pediatric patients with hypertrophic cardiomyopathy ( 1 ). Implantable cardioverter defibrillators (ICD) are indicated in patients with worse phenotype presentation to reduce the risk of sudden cardiac death.…”

Section: Introductionmentioning

confidence: 99%

Case report: Removal of a subcutaneous implantable cardiac defibrillator in a pediatric patient with hypertrophic cardiomyopathy after a septal myectomy. Insights on current indications of type of ICD in children with hypertrophic cardiomyopathy and left ventricular tract obstruction

et al. 2022

View full text Add to dashboard Cite

Hypertrophic cardiomyopathy is a heart muscle disease with an annual incidence between 0.24 and 0.47/100000 in childhood. Sudden cardiac death is the most common cause of death in this population. Although some medical treatment can decrease the risk of sudden cardiac death, implantable cardioverter defibrillator continues to be the most reliable treatment. Different types of devices and programming strategies can be used in patients with hypertrophic cardiomyopathy depending on each center and specific patient condition. We report a pediatric patient affected with hypertrophic cardiomyopathy who had and ICD implantation in primary prevention. Four years later he developed symptomatic left ventricular outflow tract obstruction and a surgical septal myectomy was performed. After the myectomy the patient developed complete left bundle branch block on his 12 lead ECG, and unfortunately none of the S-ICD vectors were suitable after the myectomy and it had to be explanted and replaced for a new transvenous ICD.

show abstract

“…Variants in MYH7 and MYBPC3 are the most common in HCM involving basal septum [15]. Variants in TNNT2 are associated with right atrial enlargement in HCM patients [3,32]. Gene-specific findings (structural outcomes of variants in relevant genes or cardiac regions affected by the variants) could better connect genotype and phenotype in HCM and help in the identification and clarification of HCM mechanisms.…”

Section: Introductionmentioning

confidence: 99%

Gene-Specific Discriminative Echocardiogram Findings in Hypertrophic Cardiomyopathy Determined Using Artificial Intelligence: A Pilot Study

Glavaški,

Ilić,

Velicki

2023

Cardiogenetics

View full text Add to dashboard Cite

Hypertrophic cardiomyopathy (HCM) is among the most common forms of cardiomyopathies, with a prevalence of 1:200 to 1:500 people. HCM is caused by variants in genes encoding cardiac sarcomeric proteins, of which a majority reside in MYH7, MYBPC3, and TNNT2. Up to 40% of the HCM cases do not have any known HCM variant. Genotype–phenotype associations in HCM remain incompletely understood. This study involved two visits of 46 adult patients with a confirmed diagnosis of HCM. In total, 174 genes were analyzed on the Next-Generation Sequencing platform, and transthoracic echocardiography was performed. Gene-specific discriminative echocardiogram findings were identified using the computer vision library Fast AI. This was accomplished with the generation of deep learning models for the classification of ultrasonic images based on the underlying genotype and a later analysis of the most decisive image regions. Gene-specific echocardiogram findings were identified: for variants in the MYH7 gene (vs. variant not detected), the most discriminative structures were the septum, left ventricular outflow tract (LVOT) segment, anterior wall, apex, right ventricle, and mitral apparatus; for variants in MYBPC3 gene (vs. variant not detected) these were the septum, left ventricle, and left ventricle/chamber; while for variants in the TNNT2 gene (vs. variant not detected), the most discriminative structures were the septum and right ventricle.

show abstract

Childhood Hypertrophic Cardiomyopathy: A Disease of the Cardiac Sarcomere

Cited by 10 publications

References 95 publications

Cardiac MRI in diagnosis, prognosis, and follow-up of hypertrophic cardiomyopathy in children: current perspectives

Cardiac MRI in diagnosis, prognosis, and follow-up of hypertrophic cardiomyopathy in children: current perspectives

Case report: Removal of a subcutaneous implantable cardiac defibrillator in a pediatric patient with hypertrophic cardiomyopathy after a septal myectomy. Insights on current indications of type of ICD in children with hypertrophic cardiomyopathy and left ventricular tract obstruction

Gene-Specific Discriminative Echocardiogram Findings in Hypertrophic Cardiomyopathy Determined Using Artificial Intelligence: A Pilot Study

Contact Info

Product

Resources

About