Unique Aspects of Hypertrophic Cardiomyopathy in Children

Townsend, Madeleine; Jeewa, Aamir; Khoury, Michael; Cunningham, Chentel; George, Kristen; Conway, Jennifer

doi:10.1016/j.cjca.2024.01.013

Cited by 2 publications

(3 citation statements)

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“…Congenital heart disease (CHD) and cardiomyopathies are significant causes of morbidity and mortality worldwide [1,2]. Both CHD and cardiomyopathies have high rates of clinically detectable genetic causes, including chromosomal anomalies, copy number variants, and monogenic disruptions [2][3][4][5][6][7]. Genetic testing has been recommended for several years to identify these genetic causes [8,9].…”

Section: Introductionmentioning

confidence: 99%

“…There is a clear need to promote knowledge and develop standardized approaches to genetic testing to benefit patients with CHD and cardiomyopathy [15,[19][20][21]. Since there are multiple recent reviews of CHD and cardiomyopathy etiology [2,6,7,[22][23][24][25], this review focuses specifically on clinical genetic and genomic testing for patients with CHD and cardiomyopathy.…”

Section: Introductionmentioning

confidence: 99%

“…CHD and cardiomyopathies may occur independently or in combination with other systemic issues, like extracardiac congenital malformations, neuromuscular diseases, and inborn errors of metabolism [1,2,4,7,[35][36][37][38][39]. Hence, both CHD and cardiomyopathies can be classified as either isolated or syndromic [4,37].…”

Section: Introductionmentioning

confidence: 99%

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Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy

Pidaparti,

Geddes,

Durbin

2024

JCM

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Congenital heart disease (CHD) and cardiomyopathies are the leading cause of morbidity and mortality worldwide. These conditions are often caused by genetic factors, and recent research has shown that genetic and genomic testing can provide valuable information for patient care. By identifying genetic causes, healthcare providers can screen for other related health conditions, offer early interventions, estimate prognosis, select appropriate treatments, and assess the risk for family members. Genetic and genomic testing is now the standard of care in patients with CHD and cardiomyopathy. However, rapid advances in technology and greater availability of testing options have led to changes in recommendations for the most appropriate testing method. Several recent studies have investigated the utility of genetic testing in this changing landscape. This review summarizes the literature surrounding the clinical utility of genetic evaluation in patients with CHD and cardiomyopathy.

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