Ultrasound and genetic detection of fetal hypertrophic cardiomyopathy in second trimester of pregnancy

Soares, Célia Azevedo; Lourenço, Cátia; Nogueira, Rosete; Carriço, Ana

doi:10.1136/bcr-2020-239773

Cited by 1 publication

(1 citation statement)

References 8 publications

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“…What roles do molecular and genetic alterations play during intrauterine development? Although there are similarities between fetal and adult HCM in molecular, histological, and functional aspects, 90,91 the extent to which early developmental processes influence adult asymmetrical septal hypertrophy development remains to be fully understood. Investigating fetal cardiomyopathies and reprogramming of adult hearts to fetal gene expression patterns can deepen our understanding of this developmental trajectory.…”

Section: Future Perspectivesmentioning

confidence: 99%

Retrofitting the Heart: Explaining the Enigmatic Septal Thickening in Hypertrophic Cardiomyopathy

Federspiel,

Reil,

et al. 2024

Circ: Heart Failure

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Hypertrophic cardiomyopathy is the most common genetic cardiac disease and is characterized by left ventricular hypertrophy. Although this hypertrophy often associates with sarcomeric gene mutations, nongenetic factors also contribute to the disease, leading to diastolic dysfunction. Notably, this dysfunction manifests before hypertrophy and is linked to hypercontractility, as well as nonuniform contraction and relaxation (myofibril asynchrony) of the myocardium. Although the distribution of hypertrophy in hypertrophic cardiomyopathy can vary both between and within individuals, in most cases, it is primarily confined to the interventricular septum. The reasons for septal thickening remain largely unknown. In this article, we propose that alterations in muscle fiber geometry, present from birth, dictate the septal shape. When combined with hypercontractility and exacerbated by left ventricular outflow tract obstruction, these factors predispose the septum to an isometric type of contraction during systole, consequently constraining its mobility. This contraction, or more accurately, this focal increase in biomechanical stress, prompts the septum to adapt and undergo remodeling. Drawing a parallel, this is reminiscent of how earthquake-resistant buildings are retrofitted with vibration dampers to absorb the majority of the shock motion and load. Similarly, the heart adapts by synthesizing viscoelastic elements such as microtubules, titin, desmin, collagen, and intercalated disc components. This pronounced remodeling in the cytoskeletal structure leads to noticeable septal hypertrophy. This structural adaptation acts as a protective measure against damage by attenuating myofibril shortening while reducing cavity tension according to Laplace Law. By examining these events, we provide a coherent explanation for the septum’s predisposition toward hypertrophy.

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Section: Future Perspectivesmentioning

confidence: 99%