RVOT myectomy in a 33-year-old woman with hypertrophic cardiomyopathy and severe RVOT obstruction resulted in recovery of right ventricular function and reduced pressure gradient at 4 months.
Case Report (n=1)
RVOT myectomy successfully relieved severe right ventricular outflow tract obstruction in a rare case of hypertrophic cardiomyopathy presenting with unique phenotypic and genetic features.
BACKGROUND: Hypertrophic 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. CONCLUSIONS: Isolated, 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. TRIAL REGISTRATION: The study is not a clinical trial. The registration details (registry, trial registration number, and data of registration) are not needed.
Sun et al. (Fri,) conducted a case report in Hypertrophic cardiomyopathy with severe right ventricular outflow tract obstruction (n=1). Right ventricular outflow tract (RVOT) myectomy was evaluated on Right ventricular function and pressure gradient of RVOT. RVOT myectomy in a 33-year-old woman with hypertrophic cardiomyopathy and severe RVOT obstruction resulted in recovery of right ventricular function and reduced pressure gradient at 4 months.