Osteogenesis imperfecta (OI) is a rare connective tissue disorder characterized by fragile bones and different cardiovascular effects. Its implications for prosthetic valve selection remain poorly defined. A 33-year-old man was referred for evaluation of a diastolic murmur and was found to have severe aortic regurgitation with left ventricular dilation. Clinical features raised suspicion of a connective tissue disorder, although initial genetic testing was negative. The patient underwent surgical aortic valve replacement with a bioprosthetic valve due to perceived bleeding risk and patient preference. The postoperative course was complicated by significant bleeding. After the diagnosis of OI in his infant son, genetic testing confirmed OI in the patient. Early structural valve deterioration of the bioprosthesis was subsequently observed, raising concerns about prosthetic durability in OI. The long-term outcome after mechanical valve implantation was favorable. This case highlights the complexity of selecting a prosthetic valve for patients with OI. This report suggests that osteogenesis imperfecta may predispose to accelerated structural deterioration of bioprosthetic valves, with important implications for prosthetic valve selection. While the bleeding risk may support the use of bioprosthetic valves, our case suggests that these valves may be prone to early structural failure in this group. Mechanical valves, though they require lifelong anticoagulation, may be a more durable option and should be carefully considered, especially for young patients.
Hypertrophic cardiomyopathy (HCM) is characterized by unexplained myocardial hypertrophy and marked phenotypic heterogeneity. Although left ventricular (LV) hypertrophy is the hallmark of the disease, right ventricular (RV) involvement resulting in biventricular hypertrophy has also been reported. The coexistence of biventricular hypertrophy with dynamic LV outflow tract (LVOT) obstruction represents an unusual morphological presentation. A 48-year-old man presented with a 6-month history of exertional chest pain and dyspnea. Transthoracic echocardiography demonstrated asymmetric septal hypertrophy with systolic anterior motion of the mitral valve and a peak LVOT gradient of 40 mmHg. RV hypertrophy was also noted. Speckle-tracking echocardiography revealed reduced LV global longitudinal strain (−13.5%) with preserved RV strain. Cardiac magnetic resonance (CMR) confirmed biventricular hypertrophy and focal myocardial fibrosis. This case highlights the value of multimodality imaging, including strain echocardiography and CMR, in evaluating this uncommon phenotypic expression of HCM.
Context: The left atrium (LA) is no longer viewed as a passive transport chamber but as a sensitive barometer that reflects LV filling pressures over time, so early impairment of atrial compliance and mechanics often precedes overt chamber enlargement or symptomatic heart failure. Aim: To evaluate the diagnostic value of the left atrial (LA) filling index (E/LA reservoir strain [LARS] ratio) and its correlation with brain natriuretic peptide (BNP) as a surrogate for left ventricle (LV) filling pressures in hypertensive patients with preserved ejection fraction (EF). Methods: A case-control study was conducted on 91 participants: Group I ( n = 35, hypertensive patients without left ventricular hypertrophy (LVH), Group II ( n = 36, hypertensive with LVH), and Group III ( n = 20, healthy controls). All participants underwent Two-dimensional-speckle tracking echocardiography using a GE Vivid E95 system to assess LA phasic mechanics. The LA filling index was calculated as E-wave velocity divided by LARS. Results: LA reservoir and conduit strain were significantly impaired in both hypertensive groups compared to controls ( P < 0.001). The LA filling index was significantly higher in hypertensive patients, particularly those with LVH ( P < 0.001). A significant positive correlation was found between the LA filling index and both the E/e’ ratio ( r = 0.420, P < 0.001) and BNP levels ( r = 0.378, P < 0.001). Conclusion: The E/LA strain ratio appears to be a promising, noninvasive marker for detecting subclinical atrial myopathy and elevated LV filling pressures in hypertensive heart disease, even before overt structural remodeling occurs.
Introduction: Atrial fibrillation (AF) increases the risk of stroke due to thromboembolism from the left atrial appendage (LAA). LAA emptying velocity (LAAev) is measured with transesophageal echocardiograms (TEEs) and is a surrogate for LAA thrombosis and stroke risk. Although the literature is conflicting, we hypothesized that mitral regurgitation (MR) would increase turbulence in left atrium and increase LAAev. Methods: TEE imaging and reports from 2016 to 2022 at The University of Kansas Medical Center were reviewed to obtain LAAev. MR was assessed using echocardiography reports. Univariate and multivariate linear and logistic regressions were used to analyze the association between moderate-to-severe or severe MR (>moderate MR) and LAAev. The multivariate models were adjusted for age, sex, and significant univariate predictors. Results: The study included 995 TEEs (38.1% female, mean age 71.3 ± 12.7 years) with 817 (82.1%) having a history of AF. The mean LAAev was 41.6 ± 21.0 cm/s with > moderate MR present in 50 (5.0%) patients, associated with 7.8 ± 3.0 cm/s increase in LAAev ( P = 0.01) in univariate, and 6.1 ± 3.0 cm/s increase ( P = 0.04) in multivariate linear regression. The adjusted odds ratio for reduced LAAev (<30 cm/s) for > moderate MR was 0.43 (95% confidence interval 0.21, 0.89, P = 0.02) in univariate and 0.35 (0.15, 0.79, P = 0.01) in multivariate logistic regression. Conclusions: Our results support an independent association between MR and increased LAAev, suggesting a possible protective role of MR in AF-related cardioembolic stroke. This merits further validation before incorporation in cardioembolic risk-stratification systems.
Infective endocarditis (IE) is an uncommon disease, however still associated with high mortality. The complexity of the disease is due to various clinical manifestations as well as possible localizations of the disease, in both extracardiac and cardiac localizations. In most cases, IE involves cardiac valvular tissue or prosthetic material, but in rare cases vegetations can be found in special localizations. We present the case of a 56 years old male, hospitalized in our Infectious Disease Hospital for long-lasting fever. Initial transthoracic examination was negative but, due to high clinical suspicion, we performed a transesophageal examination with the evidence of aortic valve infection and a mass adherent to right side of fossa ovalis. Multi-imaging approach and anatomopathological examination led to the diagnosis of IE involving native aortic valve and fossa ovalis. The evidence of a mass at the level of interatrial septum is a rare finding, especially if right side is involved. The most important differential diagnosis in this case is between vegetation, thrombus or tumoral tissue. We performed a literature review of this rare presentation.
