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SITUS INVERSUS TOTALIS WITH DEXTROCARDIA ASSOCIATED WITH MID-CAVITARY HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY AND LEFT VENTRICULAR APICAL ANEURYSM IN A YOUNG FEMALE PATIENT
Abstract   Open access   Peer reviewed

SITUS INVERSUS TOTALIS WITH DEXTROCARDIA ASSOCIATED WITH MID-CAVITARY HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY AND LEFT VENTRICULAR APICAL ANEURYSM IN A YOUNG FEMALE PATIENT

SWOTANTRA Gautam, Parikshit Chapagain and Marcos Hazday
Journal of the American College of Cardiology, Vol.85(12), pp.3898-3898
04/01/2025
DOI: 10.1016/S0735-1097(25)04382-7
url
https://doi.org/10.1016/S0735-1097(25)04382-7View
Published (Version of record) Open Access

Abstract

Background Dextrocardia with situs inversus is a rare congenital condition characterized by a mirror-image arrangement of the heart and associated organs and the concurrent presentation of hypertrophic obstructive cardiomyopathy (HOCM) is extremely rare. Case A 22 year-old-female presented with palpitation, near-syncope, and dyspnea on exertion. Family history was significant for sudden death at a young age with heart failure in her maternal grandfather and maternal uncles; Her mother had a history of Sjogrenʼs syndrome, SVT, and frequent near-syncopal episodes. EKG showed features suggestive of dextrocardia. Echocardiography revealed dextrocardia and large vessel situs inversus. CT chest and abdomen reported situs inversus totalis with right-sided arch and mirror-image branching. Cardia MRI revealed asymmetric LVH, abnormal late gadolinium enhancement within the 16 mm thickened segments of the anterior wall and septum with midcavitary HOCM, normal biventricular ejection fraction, and LV apical aneurysm. Decision-making Her Whole Exome Sequencing revealed heterozygosity for a pathogenic variant in the MYBPC3 gene, inherited from her mother and consistent with autosomal dominant HCM. She underwent an ICD implantation for primary prevention of SCD, along with Metoprolol and Verapamil. Moreover, she had two variants of uncertain significance in the same gene likely inherited from her father residing on the opposite allele, and an additional likely pathogenic variant in the CFAP52 gene inherited from her mother, with another variant of uncertain significance potentially from her father; family testing suggests a trans arrangement configuration. This patient is a carrier for autosomal recessive heterotaxy or situs inversus, consistent with her phenotype, indicating both the pathogenic and uncertain significance variants likely contributing to her condition. Conclusion While there is currently no substantial evidence connecting HCM with situs inversus and dextrocardia, both conditions are regarded as sporadic and isolated disorders. Advancements in sequencing technology may potentially uncover any underlying associations in the future.

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