ArticleBMC cardiovascular disorders2026
Unusual hypertrophic cardiomyopathy with severe right ventricular outflow tract obstruction and two septal aneurysms: a case report.
Article in BMC cardiovascular disorders, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundHypertrophic cardiomyopathy (HCM) is characterized by left ventricular wall thickening, while right ventricular involvement in HCM is also common and has been identified to relate to worse prognosis. Right ventricular outflow tract (RVOT) obstruction is a rare clinical disorder with diverse etiologies, among which HCM is one of the most prevalent specific causes. Currently, severe RVOT obstruction caused by HCM remains rarely reported. Its phenotypic and genetic characteristics remains uncharacterized, warranting more attention. CASE PRESENTATION: This case presented a 33-year-old woman who had a unique cardiac manifestation of HCM characterized by severe RVOT obstruction, apical hypertrophy, a membranous ventricular septal aneurysm and an atrial septal aneurysm. Her genetic tests reported three novel mutation sites associated with cardiomyopathy. The diagnosis of HCM was supported by imaging, genetic and histological findings. The patient underwent RVOT myectomy to relieve the obstruction. Follow-up echocardiography at four months showed gradual recovery of right ventricular function and a marked reduction in the pressure gradient of RVOT.
conclusionsIsolated, severe RVOT obstruction caused by HCM is very rare. It requires careful differentiation from congenital heart diseases and actively individualized management in line with guidelines for left ventricular involvement. The unique cardiac features in our case exhibited phenotypic heterogeneity of HCM. The novel reported mutation sites indicated genetic heterogeneity of cardiomyopathy. With more clinical evidence available, we will have a deeper understanding of genotype-phenotype correlations across different cardiomyopathies.
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