Case Of Cardiomyopathy Research Articles

A CASE OF DILATED CARDIOMYOPATHY CAUSED BY TNNT2 MUTATION

Dilated cardiomyopathy is one of the leading causes of heart failure with high morbidity and mortality. Although more than 40 genes have been reported to cause dilated cardiomyopathy, the role of genetic testing in clinical practice is not well defined. Mutations in the troponin T (TNNT2) gene represent an important subset of known disease-causing mutations associated with dilated cardiomyopathy. Mutations in TNNT2, encoding cardiac troponin T, commonly shows early onset, aggressive dilated cardiomyopathy. This observation may influence the decision of whether to undertake clinical genetic testing for TNNT2 in later onset dilated cardiomyopathy. Further, the trigger for late onset dilated cardiomyopathy remains enigmatic. Here, we presented a case of dilated cardiomyopathy caused by TNNT2 mutation in 59-year-old male.

Epidemiological, Clinical and Echocardiographic Aspects of Non-Obstructive Hypertrophic Cardiomyopathy in the Nephrology and Haemodialysis Department of the POINT G University Hospital

Introduction: LVH is the earliest cardiovascular abnormality in CKD. It is a significant risk factor for mortality and cardiovascular morbidity in patients with chronic kidney disease. The objective of this study was to investigate non-obstructive hypertrophic cardiomyopathy in CKD patients hospitalised in the nephrology and haemodialysis department of the POINT G University Hospital. Methods: This is a prospective study carried out from January 1, 2021 to December 31, 2021 and concerned chronic renal failure patients with non-obstructive hypertrophic cardiomyopathy. Results: During our study, we recorded 89 cases of non-obstructive hypertrophic cardiomyopathy, a prevalence of 42.8%. The sex ratio was 1.2 in favour of men. The average age of the patients was 45 ± 14.4 years with extremes of 16 and 78 years. The risk factors frequently found were anaemia (100%) and hypertension (92.1%). The clinical picture was dominated by the left heart failure syndrome (66.3% of cases). The different types of echocardiographic hypertrophy found were concentric (72%), eccentric (18%) and septal hypertrophy (10%). Conclusion: Non-obstructive hypertrophic cardiomyopathy is the early cardiovascular abnormality encountered in CKD. It is associated with cardiovascular risk factors such as hypertension, anaemia and phosphocalcic disorders.

A Rare Case of Peripartum Cardiomyopathy Followed Up for Intracardiac Thrombus and Sudden Embolism of Right Coronary Artery: A Case Report and Review of the Literature

Peripartum cardiomyopathy (PPCM) is a rare disease with high mortality in which dilated heart failure occurs in the last month of pregnancy or within 5 months after delivery, without any other etiology or pre-existing heart disease. Sometimes, it may present with intracardiac thrombus and associated life-threatening embolic complications. Here, we will present the management of a 28-year-old patient who was diagnosed with PPCM and intracardiac thrombus immediately after delivery and was followed up in the intensive care unit, in which an inferior myocardial infarction was detected in the electrocardiogram taken for sudden onset chest pain. Although peripheral thromboembolism is occasionally detected in PPCM patients with intracardiac thrombus, coronary embolisms is not common. Presentation with coronary embolism in patients with PPCM has been described in only 4 cases in the literature, but to the best of our knowledge, this is the first case to describe embolism to the right coronary artery.

Generation of Induced Pluripotent Stem Cell Lines ICGi022-A-3, ICGi022-A-4, and ICGi022-A-5 with p.Asn515del Mutation Introduced in <i>MYBPC3</i> Using CRISPR/Cas9

Up to 60% of hypertrophic cardiomyopathy cases are due to mutations responsible for sarcomere functioning. However, clinical significance is known not for all variants found in hypertrophic cardiomyopathy-associated genes. Using methods of nucleotide sequence editing opens new prospects for clarifying clinical significance of the variants. A trinucleotide deletion c.1543_1545delAAC (p.Asn515del) with uncertain significance was introduced in MYBPC3 of induced pluripotent stem cells (iPSCs) of a healthy donor by CRISPR/Cas9. Three iPSC lines (ICGi022-A-3, ICGi022-A-4, and ICGi022-A-5) homozygous at the mutation were generated. The iPSC lines with the introduced deletion demonstrated morphology characteristic of human pluripotent cells, normal karyotype (46,XX), expressed markers of the pluripotent state (OCT4, NANOG, TRA-1-60, SSEA-4), and were able to give rise to derivatives of three germ layers during spontaneous differentiation. Studying properties of cardiomyocytes obtained under directed differentiation of the ICGi022-A-3, ICGi022-A-4, and ICGi022-A-5 iPSC lines allows establishing pathogenetic contribution of the p.Asn515del variant in MYBPC3 to hypertrophic cardiomyopathy development.

Prevalence of feline cardiomyopathy phenotypes and arterial thromboembolism

The aim: To investigate the prevalence of cardiomyopathy (CMP) phenotypes and the weight of cardiogenic arterial thromboembolism (ATE) as a complication in cats. To determine the influence of age, breed and sex on the frequency of detection of CMP and ATE. Animals: One hundred and seventeen cats with various phenotypes of cardiomyopathies.
 Materials and methods: the database of the veterinary center was analyzed. From 1066 studied cats, 117 stories of animal diseases were selected, in which the diagnosis of cardiomyopathy was established.
 Results: In the experimental group, the prevalence of CMP was 11 % (HCMP - 94 %; DCMP - 3.4 %; RCMP - 2.6 %). Males were affected more often and had a more severe course. As the age of the animals increased, the relative frequency of heart failure increased slightly, but CMP was diagnosed more often in young animals. The Scottish Straight, Scottish Fold, European Shorthaired, European Longhaired, British Longhaired, and Canadian Sphynx can be considered susceptible breeds in Vinnytsia. There have been no cases of cardiomyopathy in Maine Coons. 57 % of cats with HCMP phenotype were asymptomatic. Arterial thromboembolism occurred in 14.5 % of animals with various CMP phenotypes. The lethality of ATE before discharge was 17.6 %, euthanized (different time period after the incident) 29 %.
 Conclusion: HCMP phenotype is the most common. Probably, genetic factors related to sex and breed have a significant influence on the development of cardiomyopathy. More often, CMP phenotypes were diagnosed in younger animals. Heart failure develops more often in older animals. The number of animals with ATE and HCMP phenotype is high, but relative to the number of animals with heart failure, cats with DCMP were more prone. ATE occurred more often in females. Thromboembolism is more common in the European Longhair breed.

The effect of dilated cardiomyopathy with moyamoya disease in a 31-year-old Chinese man: A case report.

Dilated cardiomyopathy (DCM) is a clinically common and refractory disease; however, few cases of dilated cardiomyopathy have been reported in patients with moyamoya diseases treated by combining traditional Chinese Medicine (TCM) and Western medicine, which has a higher risk of rehabilitation. A 31-year-old man was admitted due to paroxysmal chest tightness and shortness of breath. He denied a history of DCM, hypertension, diabetes, pericarditis, smoking, and alcohol consumption. On admission, his transesophageal echocardiography (Fig. 1A) showed the larger heart with poor myocardial systolic function (left ventricular end diastolic diameter [LVEDd] 60 mm, left ventricular ejection fraction [LVEF] 38% [Teich]). On day 14 of admission, heart-related indicators were better than before. The present case is the first report demonstrating appearance the dilated cardiomyopathy (DCM) and moyamoya disease simultaneously in a 31-year-old Chinese man, aimed to report the treatment of such patients using a combination of TCM and Western medicine and analyzing the necessity and advantages of using this treatment for patients suffering from DCM and moyamoya disease, so as to improve the level of clinical diagnosis and treatment of such diseases.

383 TAKOTSUBO SYNDROME AFTER CAR-T CELL INFUSION

Abstract Introduction The mechanisms of cardiotoxicity during CAR-T cell therapy remain unclear to this day. We present the case of a 63-year-old woman with diffuse large B-cell lymphoma, who underwent CAR-T cell therapy. Five days after the infusion, she developed takotsubo cardiomyopathy. This is one of the rare cases of CAR-T cell-induced takotsubo cardiomyopathy. Case Description a 63-year-old woman with a diffuse large B-cell lymphoma and without significant cardiovascular history was treated with CAR-T cell therapy. The patient had arterial hypertension, dyslipidemia and history of CAD in the family. Prior to CAR-T cell therapy, she underwent baseline cardiac evaluation with an echocardiogram which showed a normal biventricular function. Within 24 hours of the infusion of CAR-T cells, she developed grade I cytokine release syndrome (CRS) with high-grade fever and sinus tachycardia. On day four, she developed grade three immune effector cell associated neurological syndrome which was treated with tocilizumab and dexamethasone. On day five laboratory testing showed a disproportionate elevation of BNP compared to hs-TnI. An ECG reported diffuse new-onset T wave inversion in all the precordial leads and a prolonged QT interval, and an echocardiogram showed severely reduced left ventricular ejection fraction (EF = 30%) with evidence of apical ballooning and right ventricular systolic dysfunction. Coronary angiography showed significant stenosis of the middle segment of the circumflex artery, which poorly could explain the clinical presentation of the patient. Ventriculography was also performed, which confirmed the ultrasound findings. During the next 48 hours, ECG and left ventricular function improved along with a gradual reduction of BNP and hs-TnI. We concluded that takotsubo syndrome was the most likely diagnosis. The InterTAK score was 89, which corresponded to a probability of takotsubo of 99.4%. The patient's therapy was then optimized with an increase in the dosage of angiotensin receptor antagonists and beta blockers. One month after CAR-T cell infusion, echocardiography showed complete recovery of biventricular function and ECG completely normalized, together with the values of BNP and TnI-hs. Medical treatment was left unmodified. Conclusions the pathophysiology of left ventricular systolic dysfunction during CAR-T cell therapy is unclear, but the main hypotheses are IL-6 mediated myocardial depression during CRS, stress-induced or takotsubo cardiomyopathy, and direct toxicity from CAR-T cells. From the currently available data from retrospective studies, cardiovascular events strongly overlap with CRS and, particularly, with high-grade CRS. Therefore, there is a strong rationale for early treatment with tocilizumab as it has been postulated from retrospective data a lower risk of cardiovascular events with earlier administration of tocilizumab during CRS. Surveillance for cardiotoxicity in patients receiving CAR-T cell therapy is mandatory for prompt recognition and treatment of cardiovascular complications. Our understanding of CAR-T cell-induced cardiomyopathy is still limited, and data regarding predictive factors for persistent cardiac dysfunction are lacking. It is important to differentiate cardiovascular events related to CAR-T cell therapy from epiphenomenon of CRS and capillary leak, to allow for a broader assessment of cardiac events among future CAR T-cell trials.

Reverse Takotsubo Stress Cardiomyopathy During Liver Transplantation

Reverse Takotsubo Stress Cardiomyopathy During Liver Transplantation

Heart failure heralded by hip pain: A case of cobalt cardiomyopathy after hip arthroplasty

Background: The 2021 European Society of Cardiology guidance on heart failure lists metal toxicity as one of the rare causes of cardiomyopathy, citing iron and copper as examples

Deaths Due to Cardiomyopathy of Unknown Etiology in Children and Young Adults

Background: Cardiomyopathies are a group of diseases of the heart that can lead to heart failure, cardiac arrhythmia, and sudden death. They typically manifest as an enlarged heart or a normal heart with microscopic anomalies (fibrosis, inflammation, etc.). The aim of the study is to investigate the prevalence of deaths due to cardiomyopathies of unknown etiology in young subjects in a forensic pathology setting. Materials and Methods: Deaths due to cardiomyopathy in decedents less than 40 years old evaluated at the Cook County Medical Examiner’s Office in Chicago from January 2013 to June 2018 were studied. Results: In total, 140 cases of cardiomyopathies were identified in the study period: among these, in 20 cases (14%), no underlying etiology could be found through medical history and autopsy investigation. The demographics and the macroscopic and microscopic findings of these cases are described, highlighting the importance of medical history review and adequate histological sampling of hearts in cases of sudden, unexpected death in children and young adults. Conclusions: This study highlights the importance of medical history review and adequate histological sampling of hearts in cases of sudden, unexpected death in children and young adults to identify possible cardiomyopathies of unknown etiology.

Prognosis of Myocarditis Developing After mRNA COVID-19 Vaccination Compared With Viral Myocarditis

BackgroundAssociation between messenger RNA (mRNA) COVID-19 vaccines and myocarditis has aroused public concern over vaccine safety. ObjectivesThe goal of this study was to compare the prognosis of this condition with viral infection–related myocarditis over 180 days. MethodsA territory-wide electronic public health care database in Hong Kong linked with population-based vaccination records was used to conduct a retrospective cohort study. Since the roll-out of BNT162b2 (Pfizer-BioNTech), patients aged ≥12 years hospitalized with myocarditis within 28 days after BNT162b2 vaccination were compared against viral infection–related myocarditis recorded before the pandemic (2000-2019), over a 180-day follow-up period (starting from diagnosis of myocarditis). All-cause mortality, heart failure, dilated cardiomyopathy, heart transplant, and postdischarge health care utilization were examined with Cox proportional hazards models. ResultsA total of 866 patients were included for analysis. Over the follow-up period, 1 death (1.0%) of 104 patients with postvaccination myocarditis and 84 deaths (11.0%) of 762 patients with viral infection–related myocarditis were identified. One case (1.0%) of dilated cardiomyopathy and 2 cases (1.9%) of heart failure were identified in the postvaccination group, compared with 28 (3.7%) and 93 (12.2%) in the viral infection–related myocarditis group, respectively. Adjusted analysis showed that the postvaccination myocarditis group had a 92% lower mortality risk (adjusted HR: 0.08; 95% CI: 0.01-0.57). No significant differences in other prognostic outcomes were seen. ConclusionsThis study found a significantly lower rate of mortality among individuals with myocarditis after mRNA vaccination compared with those with viral infection–related myocarditis. Prognosis of this iatrogenic condition may be less severe than naturally acquired viral infection–related myocarditis.

Preterm Neonate With Dexamethasone-Induced Acute Hypertrophic Cardiomyopathy and Cardiogenic Shock.

This case report describes an extremely low birth weight infant, born at 26-week gestational age, who developed hypertrophic cardiomyopathy (HCM) and cardiogenic shock a few hours after administration of a small dose of dexamethasone. Although cases of steroid-induced cardiomyopathy in preterm neonates are known in literature, their adverse effects are insidious and are transient in occurrence. This is the first report of HCM and cardiogenic shock occurring acutely after administration of small-dose dexamethasone. This neonate received small-dose dexamethasone initially to prevent reintubation, and again to facilitate successful extubation. Both occurrences were associated with acute cardiac decompensation with reduction in ejection fraction within hours of administration. Cardiac function subsequently improved with discontinuation of drug and use of inotropic pharmacotherapy. Studies outlined in this report show that steroid-induced HCM is known and not isolated to dexamethasone alone; however, little is known on the adverse effect of small-dose steroid in resulting acute cardiac decompensation. This case is of educational value in clinical practice by highlighting the potential adverse effects even at the smaller doses of dexamethasone currently recommended in extremely low birth weight infants.

Introduction to hemodynamic forces by echocardiography

Hemodynamic force (HDF) analysis represents a novel approach to quantify intraventricular pressure gradients, responsible for blood flow. A new mathematical model allows the derivation of HDF parameters from routine transthoracic echocardiography, making this tool more accessible for clinical use. HDF analysis is considered the fluid dynamics correlate of deformation imaging and may be even more sensitive to detect mechanical abnormalities. This has the potential to add incremental clinical value, allowing earlier detection of pathology or immediate evaluation of response to treatment. In this article, the theoretical background and physiological patterns of HDF in the left ventricle are provided. In pathological situations, the HDF pattern might alter, which is illustrated with a case of ST segment elevation myocardial infarction and non-ischemic cardiomyopathy with typical left bundle branch block.

Sudden cardiac death in patients with coronary heart disease and antemortem alcohol intake: A STROBE - compliant retrospective study.

The present study was aimed to assess the prevalence and possible causal relationship of alcohol intake prior to a sudden cardiac death event in patients with coronary artery disease. The retrospective research was performed at the Vilnius branch of The State Forensic Medicine Service. The autopsy protocols for five years were analyzed and the cases of sudden cardiac death were selected, when the determined cause of death was Coronary Heart Disease (CHD), a forensic autopsy and toxicological blood and urine test had been performed. Cases of the sudden death of non-cardiac origin, cases of cardiomyopathy of various origins, and cases of acute cardiac arrest of unspecified origin were excluded. The data collected was processed using R software. The study sample consisted of 2133 cases. 706 (33%) CHD cases were alcohol positive. Males and young age CHD victims were more likely to find alcohol than females (72% vs. 28%, respectively, P < .001). The mean blood alcohol concentration of the sample was 1.37 ‰± 1.01, urine's 1.73‰ ± 1.29. Alcohol was more commonly found during the winter months and the holidays. Deaths in alcohol-positive individuals were more common in the alcohol elimination phase with hemodynamically insignificant coronary artery stenosis (up to 50% of arterial lumen). Nearly every third CHD victim in Lithuania who experienced sudden death also had signs of antemortem alcohol consumption.

Abstract 9375: Role of Cardiac MRI in the Evaluation of T Wave Inversion in a Large Pre-Participation Cohort of Young Asian Males

Introduction: Abnormal T wave inversion (ATWI) in the pre-participation screening (PPS) electrocardiogram (ECG) may signify underlying myocardial disorders (e.g. cardiomyopathy, myocarditis) associated with sudden cardiac death. Current guidelines for competitive athletes recommend evaluation of ATWI with transthoracic echocardiography (TTE) and follow-on cardiac magnetic resonance imaging (CMR) if TTE is normal (i.e. echo-negative). However, data on evaluation of ATWI detected on PPS outside of competitive athletes (e.g. recreational athletes or military enlistees) is lacking. Methods: We studied the yield of ATWI evaluation in a large unselected cohort of 48115 young Asian male military enlistees who underwent PPS between 2019-2021. Individuals with ATWI meeting the International Criteria 2017 definition underwent TTE. Echo-negative individuals with persistent ATWI on repeat ECG further underwent CMR and were followed up for 12 ± 8 months. Routine demographic, anthropometric and ECG parameters were collected. Individuals with known heart disease or conduction abnormalities (e.g. RBBB) were excluded. Results: 133 (0.3%) individuals had ATWI, amongst whom TTE detected 3 (2.3%) individuals with cardiomyopathy. 105 echo-negative individuals had persistent ATWI and underwent CMR, which detected a further 5 (4.8%) cases of cardiomyopathy and 2 (1.9%) cases of prior myocarditis with residual scar. Echo-negative individuals with myocardial disorders on CMR had deeper ATWI of ≥ 2mm (p=0.047), ATWI in lateral (p=0.046) or all 3 territories (p=0.006), and concomitant ST segment depressions (p=0.030). ATWI depth of &lt; 2mm demonstrated 100% negative predictive value for myocardial disorders on TTE or CMR. Conclusions: Evaluation of ATWI in our unselected cohort of young Asian males identified myocardial disorders in 7.5%, with follow-on CMR increasing the diagnostic yield by 3-fold compared to TTE alone. Our findings confirm that CMR has utility in the evaluation of ATWI detected by PPS even in unselected individuals outside the competitive athletic setting. ATWI depth of ≥2mm was present in all individuals with myocardial disorders, and may serve as a cut-off value for further CMR evaluation in settings with resource limitations.

Abstract 13496: Sequencing in Over 50,000 Cases Identifies Coding and Structural Variation Underlying Atrial Fibrillation Risk

Introduction: Atrial fibrillation (AF) is the most common sustained arrhythmia and is associated with substantial morbidity and mortality. AF is known to have a heritable component, with &gt;100 associated common variant loci. Rare variant studies have yielded limited robust associations for AF. We aimed to utilize large genome and exome sequencing data to discover rare genetic variants conferring large effects on AF risk. Methods: We meta-analyzed genome and exome sequencing data from 36 studies, including TOPMed, CCDG, UK Biobank and FOURIER. We performed exome-wide gene burden testing of rare (MAF&lt;0.1%) loss-of-function and deleterious missense variants, and single variant testing of low-frequency and rare (MAF&lt;1%) coding variants. Within genome sequenced samples, we performed gene burden testing of rare structural variants. Novel signals were replicated in MyCode. Finally, we functionally validated a novel gene by siRNA knockdown in pluripotent-induced atrial cardiomyocytes. Results: We included 52,416 AF cases and 277,762 controls, of which 49.6% were female, 83.4% were of European ancestry, and the mean baseline age was 56 years. In analysis of rare coding variation, we identified 4 novel genes associated with AF, including MYBPC3 (OR 3.5, P =2.1x10 -15 ), LMNA (OR 5.7, P =8.8x10 -11 ), PKP2 (OR 1.9, P =5.2x10 -8 ) and KDM5B (OR 2.3, P =3.0x10 -6 ). These signals were robust to removal of heart failure and cardiomyopathy cases and were replicated in independent datasets. Single variant analysis identified 2 novel signals in FAM189A2 (OR 3.9, P =7.86x10 -8 ) and ZFC3H1 (OR 5.9, P =9.7x10 -8 ). Rare deletions in CTNNA3 (OR 4.5, P =7.0x10 -9 ) were associated with increased AF risk and were supported by independent coding variant analyses, while duplications of GATA4 (OR 0.24, P =2.1x10 -5 ) were associated with reduced AF risk. In functional studies, knockdown of KDM5B resulted in shortening of the atrial action potential duration. Conclusions: Our analyses show the contribution of rare coding and structural variants to AF risk, highlight the shared genetic pathways underlying cardiomyopathy and AF, and implicate the histone demethylase gene KDM5B in AF susceptibility. In sum, we expanded our understanding of the rare variant architecture of this common arrhythmia.

Abstract 13711: Cardiomyopathy Complicated by Constriction Resulting in Transplant Listing

Introduction We describe a case of severe cardiomyopathy complicated by pericardial constriction resulting from epicardial VT ablation requiring heart transplant listing. Case Presentation A 43-year-old with a history of silent MI, LV aneurysm and thrombus, cardiomyopathy (EF 15%), Stage C heart failure, and VT on amiodarone initially presented with symptomatic VT requiring AICD therapy. He underwent epicardial ablation with no immediate complications. Post-ablation, he developed polymorphic VT prompting LHC revealing new LAD artery stenosis treated with stents. He was discharged on DAPT and warfarin. He subsequently re-presented with worsening dyspnea, lethargy, and edema. Invasive hemodynamics revealed elevated filling pressures and cardiogenic shock with constrictive physiology. Milrinone and aggressive diuresis were initiated with mild improvement in symptoms. Echocardiogram and cardiac MRI confirmed diagnosis of constrictive pericarditis and presence of hemopericardium. Discussion Multidisciplinary discussions were held to determine treatment. Management of constrictive pericarditis with pericardial stripping was considered. The high-risk nature of the procedure with unknown benefit, his age, and now Stage D heart failure made sternotomy a potential increased risk for future cardiac transplant. Ultimately, decision was made for pericardiocentesis, treatment with colchicine, a switch from triple therapy to warfarin and aspirin, and listing for transplant. Surveillance RHC 6 weeks post hospitalization showed resolution of constrictive physiology and normal cardiac output on milrinone.

Abstract 15242: Donor-Derived Chagas Disease Masquerading as Acute Heart Transplant Rejection

Introduction: Although Chagas disease affects over 300,000 residents in the US, donor-derived Trypanosoma cruzi transmission is an uncommon complication after heart transplantation. We present a case of post-transplant Chagas cardiomyopathy. Results: A 68 year old male with history of heart failure with reduced ejection fraction secondary to ischemic cardiomyopathy, status post HeartMate III and subsequent orthotopic heart transplantation from a Hispanic donor, initially presented four months after transplant for routine right heart catheterization. Endomyocardial biopsy showed grade 2R acute cellular rejection. Patient was treated with IV steroids and discharged. One month later, he presented with one week of fevers, malaise, non-tender erythematous patches on his upper body and hemorrhagic bullae on his buccal mucosa. Initial workup was notable for pancytopenia with WBC 1.3 x10e9/L, hemoglobin 10.3g/dL, and platelets 77 x10e9/L, troponin 3.47 ng/mL, NT-proBNP 11,331 pg/mL, and new right bundle branch block on electrocardiogram. Cardiac MRI showed extensive multifocal late gadolinium enhancement and pericardial exudates, suggestive of atypical infection. Despite treatment with Filgrastim and IVIG, the patient progressed to cardiogenic shock complicated by complete heart block requiring transvenous pacing, and ventricular tachycardia. On hospital day 5, a peripheral smear confirmed Trypanosoma cruzi with high parasite burden and amastigotes were visualized on a shave biopsy of his rash. Patient was initiated on Benznidazole. He was treated in the intensive care unit, where his course was further complicated by recurrent VT, for which he received an implantable cardiac defibrillator, and renal failure requiring hemodialysis. Conclusions: We present a case of suspected donor-derived Chagas Disease. In retrospect, this patient’s initial episode of acute rejection was most likely due to Chagas Disease. Due to increasing globalization of endemic diseases and life-threatening complications associated with this disease, a high index of suspicion is required to diagnose and treat T. cruzi after heart transplantation in the setting of non-specific symptoms.

Abstract 15052: A Young Patient Who Presented With Dilated Cardiomyopathy and Renal Infarction During Treatment With Isotretinoin

Background: Isotretinoin or 13-cis-retinoic acid (RA) is one of the most effective and widely used drug for the treatment of severe acne vulgaris. Despite deemed safe, no definite consensus has been reached on the cardiovascular risk of RA derivatives. We describe the first case of concomitant dilated cardiomyopathy (DCM) and renal infarction after 5 months of isotretinoin use in a previously healthy 18-years old man. Case Summary: An18-years-old man, with history of acne vulgaris, presented in August 2021 to our emergency department because of left iliac fossa pain and effort dyspnea. Computed tomography scan revealed left renal infarction and echocardiogram demonstrated global left ventricular (LV) dilatation with severely reduced LV-ejection fraction (LVEF: 29%). Coronary artery disease, autoimmune, infective, or heritable causes of DCM were ruled out. Cardiac magnetic resonance evidenced LV circumferential mid-wall late gadolinium enhancement and ECG monitoring revealed several non-sustained ventricular tachycardia episodes. Thus, Bisoprolol, Sacubitril/Valsartan, and Eplerenone were started and up titrated until maximum tolerated doses, with only poor LVEF improvement. Conclusion: Our case aims to raise awareness on rare life-threatening cardiovascular events associated with isotretinoin use for the treatment of severe acne in young patients. To the best of our knowledge, this is the first described case of renal thromboembolism and DCM requiring S-ICD implantation and cardiac transplant program listing occurring in the course of isotretinoin treatment.

Abstract 15004: Characterization of Hypertrophic Cardiomyopathy Caused by Mutations in Four and a Half Lim Domains 1 Gene

Background: Mutations in Four and Half Lim domain 1 ( FHL1 ), an X-chromosome gene, have been described in rare cases of Hypertrophic Cardiomyopathy (HCM), mainly associated with myopathy. The current knowledge of the outcome of HCM caused by FHL1 mutations relies only on isolated case series. Objective: We aim to establish the prevalence of FHL1 mutations in a large population with overt HCM and clinically characterize HCM patients carrying FHL1 pathogenic and likely pathogenic genetic variants. Methods: From a total population of 794 HCM patients from 3 Referral Centers for hereditary cardiomyopathies, 349 HCM probands, who tested negative for sarcomeric mutations, were genetically screened by using Next Generation Panels including FHL1 . Moreover, all patients underwent personal and family history collection, physical examination, 12-lead electrocardiogram and echocardiography; while Cardiac Magnetic Resonance (CMR) was performed in a subgroup. Clinical and genetic data of FHL1 mutation carriers from our cohort were pooled with those of 52 FHL1 positive HCM cases from literature. Results: We identified 2 FHL1 pathogenic and 2 likely pathogenic variants (1 missense: c.764G&gt;C; 2 duplications: c.762dup and c.599dupT; and 1 deletion: c.210delG) in 6 HCM probands (0.8% of all HCM and 1.7 % of non sarcomeric HCM). As shown in Fig.1 A, pooled analysis suggested that clinical phenotype of FHL1-HCM was characterized by early-onset, severe diastolic dysfunction independently from the degree of hypertrophy and fibrosis at CMR (Fig 1 B), high sudden death risk, increased incidence of atrial fibrillation and evolution toward heart failure requiring heart transplantation, and variable skeletal muscle involvement. Conclusions: HCM patients carrying FHL1 mutations present with a worse prognosis as compared with the classic sarcomeric-HCM. A better characterization of these patients is needed for a personalized preventive and therapeutic approach.