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Review
. 2022 Jan;18(1):19-29.
doi: 10.1016/j.hfc.2021.07.004. Epub 2021 Oct 25.

Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management

Michele Lioncino  1 , Emanuele Monda  1 , Federica Verrillo  1 , Elisabetta Moscarella  2 , Giulio Calcagni  3 , Fabrizio Drago  3 , Bruno Marino  4 , Maria Cristina Digilio  5 , Carolina Putotto  4 , Paolo Calabrò  2 , Maria Giovanna Russo  6 , Amy E Roberts  7 , Bruce D Gelb  8 , Marco Tartaglia  5 , Giuseppe Limongelli  9
Affiliations
Review

Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management

Michele Lioncino et al. Heart Fail Clin. 2022 Jan.

Abstract

RASopathies are multisystemic disorders caused by germline mutations in genes linked to the RAS/mitogen-activated protein kinase pathway. Diagnosis of RASopathy can be triggered by clinical clues ("red flags") which may direct the clinician toward a specific gene test. Compared with sarcomeric hypertrophic cardiomyopathy, hypertrophic cardiomyopathy in RASopathies (R-HCM) is associated with higher prevalence of congestive heart failure and shows increased prevalence and severity of left ventricular outflow tract obstruction. Biventricular involvement and the association with congenital heart disease, mainly pulmonary stenosis, have been commonly described in R-HCM. The aim of this review is to assess the prevalence and unique features of R-HCM and to define the available therapeutic options.

Keywords: Cardio-facio.cutaneous; Costello; Hypertrophic cardiomyopathy; LEOPARD; Noonan; RASopathies.

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Conflict of interest statement

Disclosure The authors declare that they have no conflict of interest.

Figures

Fig. 1.
Fig. 1.
Proposed algorithm for the diagnosis and management of RASopathy-associated HCM (R-HCM).
See this image and copyright information in PMC

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