Papillary fibroelastoma (PFE) is a benign primary cardiac tumor arising from the endocardial surface, most commonly affecting the valvular endocardium. Although often incidental, PFEs may lead to serious complications, including systemic embolization, valvular obstruction, or regurgitation. Aortic valve fibroelastoma resulting in severe aortic insufficiency (AI) may be rare. A 77-year-old woman with a history of hypertension and chronic kidney disease presented with progressive dyspnea, orthopnea, and bilateral lower extremity edema. Examination revealed a diastolic murmur at the left lower sternal border. Transthoracic echocardiography demonstrated a tri-leaflet aortic valve with preserved left ventricular systolic function and moderate eccentric aortic regurgitation due to incomplete cusp coaptation. A transesophageal echocardiogram was performed, which revealed a small, filamentous, and mobile mass that was visualized at the base of the noncoronary cusp (NCC), consistent with a PFE. There were no clinical or laboratory findings suggestive of infection, and the lesion's morphology was inconsistent with vegetation. Holodiastolic flow reversal in the descending aorta confirmed severe AI. The patient was diagnosed with acute decompensated heart failure secondary to severe aortic regurgitation. After medical optimization, she underwent surgical aortic valve replacement. Intraoperative histopathology confirmed the presence of a fibroelastoma originating from the NCC. Postoperative recovery was uneventful, and the patient demonstrated marked symptomatic improvement. This case illustrates a rare presentation of PFE causing severe aortic regurgitation through mechanical interference with cusp closure rather than leaflet destruction. PFEs are typically small, avascular, and pedunculated, and when located near the coaptation zone, they can prevent complete leaflet closure, resulting in significant hemodynamic compromise. Echocardiography remains the diagnostic modality of choice, and multimodal imaging may aid in differentiating PFEs from vegetations or thrombi. Surgical excision is recommended for symptomatic, mobile, or left-sided PFEs due to the risk of embolization and valvular dysfunction. Although rare, PFE of the aortic valve should be recognized as a potential cause of severe AI. Early diagnosis and timely surgical management are curative and prevent embolic complications.

Case summary An 8-year-old, male neutered domestic shorthair cat was presented with acute onset of ataxia, apathy, hypersalivation and anorexia. Clinical examination revealed a swollen, bluish tongue tip, neurological deficits, hypothermia, hypotension and a left-sided systolic heart murmur with arrhythmia. Blood pressure was initially low but normalised after dobutamine therapy. Thoracic radiographs revealed cardiomegaly, and echocardiography confirmed a hypertrophic cardiomyopathy (HCM) phenotype with severe left atrial dilation, spontaneous echo contrast and suspected thrombus formation. MRI of the head showed absent contrast enhancement in the rostral two-thirds of the tongue and signal changes consistent with lingual infarction. Doppler ultrasound confirmed absent blood flow in the affected tongue region. Based on imaging, cardiac findings and clinical signs, a lingual artery thromboembolism was considered the most likely diagnosis. The patient was treated with anticoagulant therapy and supportive care, but because of worsening tongue swelling, functional impairment and underlying advanced heart disease, euthanasia was elected. Relevance and novel information To the authors' knowledge, this case represents the first reported case of feline arterial thromboembolism affecting the lingual artery. Although HCM was the presumed cause, other thromboembolic risk factors, such as hyperthyroidism, could not be definitively excluded. This case emphasises the need to consider atypical thromboembolic presentations in cats with cardiac disease and highlights the diagnostic value of advanced imaging modalities in identifying uncommon sites of arterial obstruction.

A 17-year-old male presented with intermittent palpitations for 6 months, acutely worsening over 24 h. Physical examination revealed Marfanoid features (arachnodactyly, positive thumb/wrist signs, pectus carinatum) and cardiac abnormalities (irregular rhythm, 3/6 systolic murmur with mid-late click). Echocardiography demonstrated: (1) Aortic sinu (AS) dilation (41 mm); (2) Bileaflet mitral valve prolapse (Barlow's Disease) with myxomatous degeneration (anterior leaflet 3.8 mm, posterior 4.2 mm); (3) Mitral annular disjunction (MAD, 13 mm gap). Transesophageal echo revealed left atrial appendage sluggish flow ("smoke-like echo") without thrombus. CTA confirmed aortic root aneurysm (42 mm) and right hydronephrosis. Electrocardiogram demonstrated paroxysmal atrial flutter. Diagnoses included Marfan syndrome (Ghent criteria), Barlow's Disease with MAD, paroxysmal atrial flutter, and obstructive hydronephrosis. The multidisciplinary team recommended staged interventions. Following catheter ablation for atrial flutter, the patient declined further procedures. Subsequent follow-up showed clinical stability.

A sinus of Valsalva aneurysm (SOVA) is a rare cardiac anomaly characterized by dilation of one of the aortic sinuses, most commonly the right coronary or noncoronary sinus. A SOVA can be clinically silent or present acutely when rupture occurs or more gradually with progressive left-to-right shunting and high-output heart failure. Etiologies of SOVA include congenital failure of the aortic media and annulus to fuse, or an acquired SOVA from endocarditis, trauma, or connective tissue disorders. SOVAs are typically diagnosed by transthoracic echocardiography (TTE), and most patients undergo a surgical approach to treatment. We report a case of a 54-year-old female who presented with chest pain, dyspnea, palpitations, and epistaxis, and was ultimately diagnosed with a ruptured right coronary SOVA forming a fistulous connection to the right atrium. Chest pain, dyspnea, and palpitations were attributed to the ruptured SOVA, whereas the epistaxis was considered incidental. Subsequent transesophageal echocardiography (TEE) revealed a ruptured right coronary SOVA forming a fistulous connection to the right atrium, producing a significant continuous left-to-right shunt with a calculated Qp/Qs of 2.6. She underwent median sternotomy with closure of the aneurysm on the aortic side and additional atrial ligation using a Dacron patch. This case is notable for the patient's atypical demographic profile, the absence of associated anomalies, and the presence of a systolic ejection murmur. It also highlights diagnostic limitations of TTE in this condition, as visualization may be hindered by suboptimal acoustic windows and the complex anatomy of sinus-to-atrial fistulous tracts. Early use of TEE can therefore be critical for accurate diagnosis and timely surgical intervention to prevent hemodynamic deterioration.

Background and Objectives: Acute respiratory distress syndrome (ARDS) carries high mortality, with cardiovascular complications frequently contributing to adverse outcomes. This study investigated the relationship between cardiac auscultation using electronic stethoscopy and echocardiographic findings and evaluated their prognostic significance in mechanically ventilated ARDS patients. Materials and Methods: This prospective observational study enrolled 173 consecutive adults with ARDS requiring mechanical ventilation (June 2020-June 2021). Cardiac auscultation was performed using an electronic stethoscope at four standard valvular positions. Bedside echocardiography assessed ventricular function, valvular regurgitation, right ventricular systolic pressure (RVSP), and inferior vena cava dimensions. Primary outcomes were ICU and 90-day mortality; the secondary outcome was ICU length of stay. Results: ICU mortality was 42.2% and 90-day mortality 46.8%. Auscultation findings correlated significantly with echocardiographic parameters: aortic stenosis murmur with an elevated aortic valve velocity (p = 0.009), and mitral/tricuspid regurgitation murmurs with corresponding color Doppler findings (p < 0.001). In multivariate analysis, the mean daily SOFA score (OR 2.39, 95% CI 1.57-3.64, p < 0.001) and RVSP (OR 1.07, 95% CI 1.02-1.11, p = 0.006) independently predicted ICU mortality. For 90-day mortality, the APACHE II score (OR 1.25, p = 0.006), mean daily SOFA score (OR 1.54, p = 0.039), RVSP (OR 1.07, p = 0.020), and mitral regurgitation severity (OR 2.98, p = 0.031) were independent predictors. ICU length of stay was predicted by the mean daily SOFA score (r = 0.35, p < 0.001) and tricuspid regurgitation severity (r = 0.25, p = 0.012). Conclusions: Electronic stethoscope auscultation correlates with the echocardiographic findings in ARDS patients. The RVSP and SOFA scores independently predict mortality, while valvular regurgitation severity provides additional prognostic information for long-term survival and ICU resource utilization.

The LYSET gene encodes the LYSET transmembrane protein, which regulates lysosome biogenesis by activating the mannose-6-phosphate (M6P) pathway. This is an autosomal recessive, ultrarare, and severe progressive skeletal dysplasia with coarse facies, distended abdomen, short stature, and severe physical disability. In a diagnostic odyssey, we report a female patient, born in 2008, daughter of consanguineous parents, with hand contractures and a typical facial appearance since 5 months old. She was clinically diagnosed at 2 years old with contractures and severe dysplasia. Systolic murmur, thickening of mitral and aortic valves, and tricuspid regurgitation were observed. Nine enzymes showed increased levels in plasma, and seven showed decreased levels in fibroblasts. Abnormal sialic acid profile and GAGs (glycosaminoglycans) were detected in urine. No variants were identified during more than a decade of investigation. A whole-genome analysis identified the homozygous nonsense variant NM_001098621.4:c.112C>T (p.Gln38Ter) in the LYSET gene. The patient had not been diagnosed before due to the recent association of the gene with the lysosomal hydrolase labeling pathway. She died in 2018 from respiratory causes. The discovery of the relationship between the LYSET gene and lysosomal biogenesis was determinative of the diagnostic conclusion. Cases of dysostosis multiplex can be highly challenging due to the rarity of the disease and its clinical similarity to mucopolysaccharidosis (MPS) and mucolipidosis II/III (MLII/III). This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P-labeled lysosomal enzymes are altered.

As part of wildlife conservation efforts, the reintroduced Eurasian lynx (Lynx lynx) populations in Switzerland are the subject of ongoing health surveillance. Cardiac pathologies, such as heart murmurs and histopathologic changes in the cardiac tissue, including intramural cardiac vessels, are frequently observed. Here we describe four cases of subaortic stenosis (SAS), a congenital heart disease rarely reported in felids, in free-ranging adult male lynx from Switzerland. The affected lynx presented macroscopically with grades 1 to 3 of SAS. Histopathology confirmed characteristic subvalvular fibrous tissue as well as myocardial fibrosis and arteriosclerosis. Clinical data for one lynx, including the documentation of a systolic heart murmur, provide further case-specific insights. Our findings suggest that SAS might be linked to the recurrently noted cardiac pathologies and could be associated with the low genetic variability of lynx in Switzerland. This highlights the importance of integrating health and genetic data into conservation strategies to preserve healthy, viable wildlife populations.

Culture-negative infective endocarditis presents significant diagnostic and therapeutic challenges, especially in patients with systemic embolic complications.

A 73-year-old female presented with split second heart sound (S2) and ejection systolic murmur. The S2 split only during expiration (paradoxical splitting) with a softer second component (pulmonary component), which was in reverse order compared to typical paradoxical splitting (termed reversed paradoxical splitting). Furthermore, the murmur increased during expiration and decreased during inspiration (reversed Rivero-Carvallo's sign). Transthoracic echocardiography revealed a mass adherent to the free wall of the right ventricular outflow tract. Open-heart surgery was performed, and the tumor was surgically resected. Histopathological examination confirmed the diagnosis of a capillary hemangioma. The patient's recovery was smooth and uneventful.