2024/07/01 by Imtiaz Ul Hassan, Ronak Rajani, M. C. Narbone +1 · 1 voice
Medicine · #Cardiac Structural Anomalies and Repair
paper · pdf · doi:10.1093/ehjimp/qyae073
openalex publication_date 2024/07/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
A 52-year-old male with known tuberous sclerosis complex (TSC1 gene, paternally inherited) and chronic progressive external ophthalmoplegia (CPEO) presented for cardiac evaluation. Genetic testing confirmed a maternally inherited mitochondrial disease (heterozygous RRM2B variant). The patient remained asymptomatic from a cardiac perspective but expressed a desire to participate in a marathon. A 12-lead electrocardiogram showed borderline increased PR duration and T-wave inversion in leads V1 to V3. Echocardiography revealed an echogenic mass at the left ventricular (LV) and right ventricular (RV) apex with preserved systolic function (Figure 1A). Subsequent cardiac magnetic resonance imaging (MRI) and computed tomography (CT) identified multiple areas of myocardial fat infiltration consistent with tuberous sclerosis (Figure 1B–F). Rhabdomyomas were deemed unlikely owing to their typical regression in adulthood and absence of a nodular appearance. The appearances were also inconsistent with lipomas, which are usually smooth, homogeneous, and encapsulated solitary masses. A loop recorder detected a narrow complex tachycardia and the patient completed an uneventful Bruce protocol for 12 minutes. Despite this, the specialist Heart Team advised against marathon participation owing to the myocardial abnormalities. (A) Echocardiographic apical four-chamber view demonstrated an echogenic mass at the apex (arrow) and a focal septal crypt (closed arrow). (B) Cardiac MRI T2W-HASTE image showed foci of high intensity signal with chemical shift artefact in the LV and RV apex suggestive of fat infiltration (black closed arrows). Normal indexed LV and RV volumes with preserved systolic function. No features of mitochondrial cytopathy (LV hypertrophy or mid-myocardial fibrosis). (C) Cardiac MRI LGE-PSIR image demonstrated fibrofatty replacement with focal infarct of the apical septum (arrow). (D) Cardiac CT wide (5 mm) MIP of the axial four-chamber view (tissue viewing windowing) demonstrated myocardial thinning over the apical inferoseptum and apex with a Hounsfield unit of -110 (arrow and asterisk). (E) Cardiac CT wide (5 mm) MIP of the mid short axis (tissue viewing windowing) showed extensive diffuse myocardial infiltration of the anterior and inferior septum (black arrows) and the head of the anterolateral papillary muscle (white arrow). (F) Cardiac CT cinematic volume rendered image of the heart demonstrated a moth-eaten appearance (arrow) of the cardiac apex due to myocardial fat replacement. T2W-HASTE, T2 weighted half Fourier single-shot turbo spin-echo; LGE-PSIR, late gadolinium enhancement phase sensitive inversion recovery; MIP, maximum intensity projection; LV, left ventricle; RV, right ventricle; RA, right atrium; LA, left atrium; AAO, ascending aorta. Myocardial fat on cardiac imaging can be age-related. However, it can also occur as sequelae of myocardial infarction, arrhythmogenic right ventricular cardiomyopathy, cardiac lipomas, metabolic syndrome, tuberous sclerosis complex (TSC), dilated cardiomyopathy, and cardiomyopathy with muscular dystrophy. In the current case, we firstly show the characteristic multimodality imaging appearances of myocardial fat replacement in TSC. Secondly, we show the overlap in imaging features that can result from an intersection of two distinct genetic disorders and provide a brief differential diagnosis for clinicians to consider in their practice. Consent: Informed consent obtained from patient. Funding: None. Data availability: No new data were generated or analysed in support of this research. Author contributions: I.H.: Writing—original draft, review, and editing, Conceptualization, Visualization, Investigation. R.R.: Writing—review and editing, Conceptualization, Visualization, Supervision. M.N.: Review and editing, Visualization, Investigation. N.M.: Review and editing, Conceptualization, Visualization, Investigation. Dr Imtiaz Ul Hassan is a Cardiology Clinical Fellow at St. Thomas Hospital specializing in multimodality imaging. He obtained his MBBS from University of Health Sciences Lahore Pakistan, and FCPS in cardiology from College of Physicians and Surgeons Pakistan. Dr Hassan went on to receive his second fellowship from the College of Physicians and Surgeons Pakistan International Scholarship Programme from Leeds NHS Hospital Trust in advanced cardiac imaging. He has a keen interest in achieving excellence in multimodality imaging and research. With a strong dedication to achieving excellence in multimodality imaging and research, he aims to advance Cardiac Imaging as subspeciality in Pakistan.