Isolated JUP plakoglobin gene mutation with left ventricular fibrosis in familial arrhythmogenic right ventricular cardiomyopathy.

INTRODUCTION: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare inherited disorder usually affecting the right ventricle (RV), characterized by fibro-fatty tissue replacement of the healthy ventricular myocardium. It often predisposes young patients to ventricular tachycardia, heart failure, and/or sudden cardiac death. However, recent studies have suggested predominantly left ventricle (LV) involvement with variable and/or atypical manifestations. Cardiac magnetic resonance (CMR) imaging has emerged as the noninvasive gold standard for the diagnosis of ARVC. CASE SUMMARY: A 21-year-old athletic male with a family history of unknown ventricular arrhythmias, presented with near syncope, chest pain, and exertional palpitations. He had an initial work-up that was grossly unremarkable including an electrocardiogram (ECG), echocardiogram and a CMR study. Six months later, he presented again with recurrent symptoms of presyncope during exercise and his ECG demonstrated new findings of a terminal activation delay in his precordial leads. He had markedly elevated cardiac biomarkers, (troponin I > 100 ng/dl, normal value < 0.04 ng/dl) and demonstrated ventricular tachycardia with a right bundle branch morphology. An endomyocardial biopsy did not reveal any pathology. A follow-up CMR demonstrated the new development and prominent left ventricular epicardial scar in the lateral wall. The patient underwent familial genetic testing, which confirmed the presence of an isolated junction plakoglobin (JUP) gene mutation and showed multiple genes consistent with ARVC in his mother. Thus, he manifested a partial transmission of only one abnormal gene for ARVC and exhibited a markedly different expression in his disease without evidence of typical right-sided heart pathology. A third CMR study was performed, which showed partial improvement in myocardial fibrosis after exercise cessation. CONCLUSION: We present a case of a young athletic male with a newly diagnosed isolated JUP gene mutation and a genetically diagnosed family history of ARVC. During his course, he demonstrated the progression of new, atypical, left ventricular fibrosis. This case demonstrates a complex interplay between genetic penetrance, phenotypical heterogeneity, and lifestyle factors such as exercise in disease progression and provides insight into the natural course of an isolated JUP mutation. Although rare, clinicians should have a high threshold for the clinical suspicion of ARVC or variants of this disorder even in the absence of classic right-sided pathologies.

Descending Aortic Distensibility and Cardiovascular Outcomes: A Cardiac Magnetic Resonance Imaging Study.

Background: Aortic distensibility (AD) is an important determinant of cardiovascular (CV) morbidity and mortality. There is scant data on the association between AD measured within the descending thoracic aorta and CV outcomes. Objective: We evaluated the association of AD at the descending thoracic aorta (AD desc) with the primary outcome of all-cause mortality, myocardial infarction (MI), stroke or coronary revascularization in patients referred for a cardiovascular magnetic resonance (CMR) study. Methods: 928 consecutive patients [(mean age 60 ± 17; 33% with prior cardiovascular disease (CVD))] were evaluated. AD desc was measured at the cross-section of the descending thoracic aorta in the 4-chamber view (via steady-state free precession [SSFP] cine sequences) and was grouped into quintiles (with the 1st quintile corresponding to the least AD, i.e., the stiffest aorta). Cox proportional-hazards regression analysis were performed for the primary outcome. Results: A total of 315 patients (34%) experienced the primary outcome during a median (25% IQR, 75% IQR) follow-up of 5.0 (0.56, 9.3) years. A decreased AD was significantly associated with hypertension, diabetes, renal disease, and dyslipidemia (p <0.0001). A primary outcome occurred in 43% of patients with AD desc ≤ median compared to 25% with AD desc > median, p <0.0001, and in 44% of patients with AD desc in the 1st quintile compared to 31% with AD desc in the other quintiles (p = 0.0004). Event free survival was incrementally reduced amongst quintiles (p <0.0001). However, AD desc ≤ median was not an independent predictor of the primary endpoint after multivariable adjustment in the overall population [adjusted HR 1.09 (95% CI:0.82-1.45), p = 0.518] or in the subgroup analysis of patients with or without prior CVD. Conclusion: In this real-world cohort of 928 patients referred for CMR, AD desc is not an independent predictor of CV outcomes.

Coronary-pulmonary artery fistula with lung hypoplasia and a bicuspid aortic valve: A case report.

Background: With an incidence of less than 1%, a Coronary Artery to Pulmonary Artery fistula (CAPF) is a rare coronary anomaly that causes heart failure. It causes a left to right cardiac shunt. While guidelines favor surgical correction in symptomatic patients, we present a challenging case with multiple cardio-thoracic pathologies. Case Presentation: We present a 38-year-old obese male with persistent atrial fibrillation (AF). He presented to our hospital in decompensated heart failure and AF with rapid ventricular response. He was found to have a CAPF, a bicuspid aortic valve and left lung hypoplasia in the presence of severely reduced left ventricular systolic dysfunction. The patient subsequently underwent various cardiac testing demonstrating advanced anatomical and physiologic involvement of his CAPF, including suggested coronary steal. Despite some indications for percutaneous or surgical referral, we optimized his AF and congestive heart failure in lieu of formulating a treatment strategy for his CAPF and other abnormalities. Conclusion: This report illustrates a case of a young adult who presented in decompensated heart failure with newly diagnosed left ventricular systolic function and rapid AF, who had a triad of congenital defects including a CAPF, a bicuspid aortic valve and left lung hypoplasia. To the best of our knowledge, this triad of defects is unreported. This case highlights the clinical approach in the evaluation of a cardiac shunt and it's management strategies in the presence of multiple cardio-thoracic comorbidities.

Ventricular tachycardia with epicardial and pericardial fibrosis 6 months after resolution of subclinical COVID-19: a case report.

BACKGROUND: Coronavirus disease 2019 (COVID-19) has been shown to have extensive effects on the cardiovascular system. Its long-term cardiac manifestations, however, remain unclear. CASE PRESENTATION: We report the case of a Caucasian patient with a mild and self-limited presentation of COVID-19, with subsequent development, months later, of exertional dyspnea and non-sustained ventricular tachycardia, long after resolution of his illness and after returning to aerobic exercise. The patient had normal screening tests including electrocardiogram (ECG) and echocardiogram 4 months after his illness. Cardiac magnetic resonance imaging demonstrated epicardial and pericardial fibrosis of the right ventricle free wall and outflow tract and the pericardium over the anterior wall, 6 months following the initial infection. First abnormal ECG was recorded at month 7 following illness. CONCLUSIONS: This case suggests an insidious and possible long-term cardiac involvement and reflects the challenges in traditional workups and screening modalities in identifying cardiac involvement in COVID-19.