Search Results (52)

Severe aortic valve diseases (AVD) cause changes in heart sounds, making phonocardiogram (PCG) analyses challenging. This study presents a novel method for segmenting heart sounds without relying on an electrocardiogram (ECG), specifically targeting patients with severe AVD. Our algorithm enhances traditional Hidden Semi-Markov Models by incorporating signal envelope calculations and statistical tests to improve the detection of the first and second heart sounds (S1 and S2). We evaluated the method on the PhysioNet/CinC 2016 Challenge dataset and a newly acquired AVD-specific dataset. The method was tested on a total of 27,400 cardiac cycles. The proposed approach outperformed the existing methods, achieving a higher sensitivity and positive predictive value for S2, especially in the presence of severe heart murmurs. Notably, in patients with severe aortic stenosis, our proposed ECG-free method improved S2 sensitivity from 41% to 70%. Full article

This study aimed to report the progress and results of the newborn screening program for congenital heart disease (CHD) in south Shanghai between 2019 and 2023, and to evaluate the accuracy of the dual-index method (pulse oximetry (POX) plus cardiac murmur auscultation) in clinical practice. Between 2019 and 2023, a total of 198,606 (99.89%) newborns were screened for CHD, of whom 3299 (1.66%) tested positive, 3043 (92.24%) underwent echocardiography for CHD diagnosis and 1109 were diagnosed with CHD in a timely manner. Among 195,307 infants with negative screening results using the dual-index method, 139 (0.07%) were later diagnosed with CHD, and none of these infants died. More than half of these false-negative infants (59.39%) were identified due to the detection of a heart murmur during routine physical examinations within six months after birth. Compared to POX testing alone, the dual-index method significantly improved the sensitivity of screening for CHD, and kept high specificity in clinical practice. This study demonstrated that newborn screening for CHD has been well conducted in Shanghai, and the dual-index method had high accuracy and reliability for neonatal CHD screening in clinical practice. Full article

Introduction: Alkaptonuria is an autosomal-recessive disorder affecting the metabolism of tyrosine and phenylalanine which results in accumulation of homogentisic acid in connective tissues. The joints are most commonly affected, while the most common cardiac damage is aortic valve stenosis. The treatment focuses on reducing the symptoms. Aortic stenosis in alkaptonuria is treated with surgical aortic valve replacement; however, transcatheter aortic valve implantation procedures are increasing in number with excellent outcomes. Case presentation: We report a case of a 67-year-old female with chronic back pain and large-joint arthralgia, who was recently diagnosed with alkaptonuria. She reported a long-known heart murmur and intermittent dark-brown staining of her underwear since childhood. Bilateral dark-brown pigmentation of the sclera and both ear cartilages were visualised. ECG confirmed atrial fibrillation and left ventricular hypertrophy. Cardiac ultrasonography showed severe aortic stenosis, reduced global longitudinal strain and preserved ejection fraction. According to the latest recommendations, the choice between surgical and transcatheter intervention must be based upon careful evaluation of clinical, anatomical and procedural factors by the Heart Team, weighing the risks and benefits of each approach for an individual patient. The advantages and disadvantages of both procedures were explained to the patient. It was emphasised that the genetic disease present has no etiopathogenetic definitive treatment and the pigment may continue to deposit on the biological valve (in transcatheter aortic valve implantation) and less likely on the mechanical valve prosthesis (in Surgical Aortic Valve Replacement), highlighting the fact that in the literature worldwide, there are only single reports of ochronosis and severe aortic stenosis. At this stage of knowledge, it is difficult to give the patient clear guarantees when choosing a methodology for performing a valve correction. Along with the standard therapy the patient underwent transcatheter aortic valve implantation with Boston Scientific prosthesis with a very good post-procedural outcome. Conclusions: There is scarce information on transcatheter aortic valve implantation success rate in patients with alkaptonuria. In the population, transcatheter aortic valve implantation outcome is generally good; however, the individual success in alkaptonuria patients depends on the severity of their heart valve damage and overall health. Full article

Early and accurate diagnosis of heart conditions is pivotal for effective treatment. Phonocardiography (PCG) has become a standard diagnostic tool for evaluating and detecting cardiac abnormalities. While traditional cardiac auscultation remains widely used, its accuracy is highly dependent on the clinician’s experience and auditory skills. Consequently, there is a growing need for automated, objective methods of heart sound analysis. This study explores the efficacy of the Common Spatial Patterns (CSP) feature extraction algorithm paired with the Random Forest (RF) classifier to distinguish between normal and pathological heart sounds. The signal is denoised, transformed, and segmented into fixed-length segments. CSP is applied to extract discriminative features (a set of Spatial Patterns), which are then fed into the classifier for cardiac diagnosis. The proposed method was evaluated using PhysioNet/CinC Challenge 2016 and Yaseen2018 (Heart Sound Murmur) datasets. On the testing set of the PhysioNet dataset, the RF classifier achieved 100% precision, recall, accuracy, F1 score, and AUC. Similarly, on the testing set of the Yaseen2018 dataset, it achieved 96.30% precision, 1.00 recall, 98.08% accuracy, 98.11% F1 score, and 99.41% AUC. Full article

An aorto-right ventricular fistula, a rare condition in humans, is characterized by communication between the ascending aorta and the right ventricle through a defect in the aortic wall. This report describes three cases of dogs with continuous murmurs: a 6-month-old Coton de Tulear, a 5-year-old Maltese, and a 6-month-old Jindo. Notably, all of the dogs presented with no severe clinical signs. Echocardiography revealed a turbulent jet through restrictive perimembranous ventricular septal defects (VSD) during systole and aorto-right ventricular fistulas secondary to ruptured sinuses of Valsalva aneurysm during diastole. In one case, a surgical closure of the VSD simultaneously resolved the aorto-right ventricular fistula. Follow-up echocardiography in the other two cases revealed mild left heart volume overload and a slight increase in the pulmonary-to-systemic blood flow ratio. However, the dogs remained asymptomatic. In conclusion, aorto-right ventricular fistulas with VSDs should be considered in the differential diagnosis of continuous murmurs in dogs. Full article

Missed or delayed heart disease diagnoses pose a major challenge in pediatric primary care. Many cardiac conditions present with subtle or nonspecific symptoms that resemble benign childhood illnesses, making their prompt recognition difficult. This review describes congenital and acquired heart diseases prone to diagnostic delays, including critical congenital heart disease, coarctation of the aorta, atrial and ventricular septal defects, myocarditis, Kawasaki disease, heart failure, and pulmonary arterial hypertension. The atypical presentations of these disorders and the associated diagnostic pitfalls are emphasized. Furthermore, the importance of alarming symptoms and signs, such as chest pain, palpitations, syncope, and abnormal heart murmurs, is underscored. A structured approach to these red flags is presented to assist primary care pediatricians in identifying children at risk, initiating appropriate management, and referring them for specialized evaluation. The importance of preparticipation screening for athletes is also discussed, highlighting how it can be applied to all children during routine health visits to identify those with heart disease. Appropriate training is essential to increase pediatricians’ ability to recognize and manage cardiac patients. Full article

Cardiovascular diseases (CVDs) are the leading cause of death worldwide, claiming over 17 million lives annually. Early detection of conditions like heart murmurs, often indicative of heart valve abnormalities, is critical for improving patient outcomes. Traditional diagnostic methods, including physical auscultation and advanced imaging techniques, are constrained by their reliance on specialized clinical expertise, inherent procedural invasiveness, substantial financial costs, and limited accessibility, particularly in resource-limited healthcare environments. This study presents a novel convolutional recurrent neural network (CRNN) model designed for the non-invasive classification of heart murmurs. The model processes heart sound recordings using advanced pre-processing techniques such as z-score normalization, band-pass filtering, and data augmentation (Gaussian noise, time shift, and pitch shift) to enhance robustness. By combining convolutional and recurrent layers, the CRNN captures spatial and temporal features in audio data, achieving an accuracy of 90.5%, precision of 89%, and recall of 87%. These results underscore the potential of machine-learning technologies to revolutionize cardiac diagnostics by offering scalable, accessible solutions for the early detection of cardiovascular conditions. This approach paves the way for broader applications of AI in healthcare, particularly in underserved regions where traditional resources are scarce. Full article

One out of every hundred live births present with congenital heart abnormalities caused by the aberrant development of the embryonic cardiovascular system. The conserved zinc finger transcription factor proteins, which include GATA binding protein 5 (GATA5) and GATA binding protein (GATA6) play important roles in embryonic development and their inactivation may result in congenital heart defects (CHDs). In this study, we performed genotypic–phenotypic analyses in two families affected by right-sided CHD diagnosed by echocardiography imaging. Proband A presented with pulmonary valve stenosis, and proband B presented with complex CHD involving the right heart structures. For variant detection, we employed whole-genome single-nucleotide polymorphism (SNP) microarray and family-based whole-exome sequencing (WES) studies. Proband A is a full-term infant who was admitted to the neonatal intensive care unit (NICU) at five days of life for pulmonary valve stenosis (PVS). Genomic studies revealed a normal SNP microarray; however, quad WES analysis identified a novel heterozygous [Chr20:g.61041597C>G (p.Arg237Pro)] variant in the GATA5 gene. Further analysis confirmed that the novel variant was inherited from the mother but was absent in the father and the maternal uncle with a history of heart murmur. Proband B was born prematurely at 35 weeks gestation with a prenatally diagnosed complex CHD. A postnatal evaluation revealed right-sided heart defects including pulmonary atresia with intact ventricular septum (PA/IVS), right ventricular hypoplasia, tricuspid valve hypoplasia, hypoplastic main and bilateral branch pulmonary arteries, and possible coronary sinusoids. Cardiac catheterization yielded anatomy and hemodynamics unfavorable to repair. Hence, heart transplantation was indicated. Upon genomic testing, a normal SNP microarray was observed, while trio WES analysis identified a novel heterozygous [Chr18:c.1757C>T (p.Pro586Leu)] variant in the GATA6 gene. This variant was inherited from the father, who carries a clinical diagnosis of tetralogy of Fallot. These findings provide new insights into novel GATA5/6 variants, elaborate on the genotypic and phenotypic association, and highlight the critical role of GATA5 and GATA6 transcription factors in a wide spectrum of right-sided CHDs. Full article

Complete atrioventricular (AV) block is a severe conduction abnormality caused by intrinsic cardiac disease, ischemia, electrolyte imbalances, or drug interactions. Elderly patients on multiple medications are particularly vulnerable to polypharmacy-related interactions. This case report describes an 82-year-old female presenting to the emergency department with fatigue, syncope, and disorientation. Her medical history included atrial fibrillation, hypertension, and heart failure, with a medication regimen of digoxin 0.25 mg given daily 5 days out of 7, metoprolol 50 mg twice daily, lisinopril 10 mg daily, furosemide 40 mg daily, and spironolactone 50 mg daily. Clinical examination revealed bradycardia and a holosystolic murmur in the mitral valve area, while the electrocardiogram showed complete AV block at a ventricular rate of 35 bpm. Laboratory results indicated mild hyperkalemia (4.9 mmol/L). Suspecting a digoxin–beta-blocker interaction, antiarrhythmic therapy was discontinued. Within three days, the AV block resolved, transitioning to atrial fibrillation with a high ventricular rate. Bisoprolol was introduced for rate control, and hemodynamic stability was achieved. The patient was discharged with a revised medication regimen and showed no recurrence of AV block. This case emphasizes the importance of recognizing drug interactions as a reversible cause of AV block and using drug interaction checkers to manage polypharmacy, especially in elderly patients with multiple comorbidities. It also highlights the rare and paradoxical combination of atrial flutter and complete AV block. Full article

Background: Purring in cats can interfere with cardiac auscultation. If the produced noise is loud enough, purring makes it impossible to perform a meaningful auscultation as it is much louder than heart sounds and murmurs. Our study introduced and tested a new, simple, fear-free, cat-friendly method to stop purring during auscultation. Methods: The technique involves grasping the cat’s larynx from ventral with one hand, while simultaneously holding the stethoscope in the other hand to perform the auscultation. Results: The incidence of purring was evaluated in 582 cats, in a veterinary teaching hospital and in a cat-friendly private practice. Fifty-one (8.8%) cats were purring during their physical examination. The tested method had a success rate of 89% in terminating purring. A comparison between investigators (a veterinary student versus an experienced veterinary cardiology specialist) showed no significant difference in the effectiveness of the method (p = 0.57). The incidence of purring was not significantly different between the teaching hospital and the cat-friendly practice (p = 1.00). Sick and older cats purred more often than healthy and younger cats. Conclusions: This new, simple, easy-to-master method is an improvement over previously reported techniques and supports the need for stress-free, cat-friendly handling in veterinary practice. Full article

Background: This study aimed to enhance the scope of neonatal congenital heart disease (CHD) screening by evaluating the effectiveness of training personnel in CHD screening using the “dual-index” method, combining pulse oximetry with cardiac murmur auscultation. Methods: From 2019 to 2022, a total of 2374 screening personnel from the Xinjiang, Yunnan, Hainan, Fujian, and Anhui provinces underwent training in neonatal CHD screening using the “dual-index” method, which involves pulse oximetry and cardiac murmur auscultation. Pre- and post-training assessments were conducted using a neonatal CHD screening knowledge questionnaire, distributed through the Questionnaire Star platform, to evaluate the impact of the training. The annual neonatal CHD screening rates were consistently recorded in these five provinces during the same period to assess the increase in screening coverage. Results: After the training, the screening personnel exhibited a significantly improved understanding of the neonatal CHD screening method (p < 0.001). Additionally, the professional background (t = −8.007, p < 0.001) and years of experience (t = 2.839, p = 0.005) of the screening personnel were identified as independent factors influencing their screening knowledge. During the same period, there was consistent linear growth in the screening coverage rate for neonatal CHD across the five provinces (χ² = 121065.416, p < 0.001). Conclusion: Standardized training in the “dual-index” method, incorporating pulse oximetry and cardiac murmur auscultation, for screening personnel significantly enhances their screening knowledge, thereby playing a critical role in expanding the coverage of neonatal CHD screening. Full article

Cardiac troponin-I (cTnI) is a highly sensitive and specific marker of myocardial injury detectable in plasma by immunoassay techniques. Inclusion criteria over a 3-year period required a diagnosis of cardiac disease accompanied by electrocardiographic (ECG) and cardiac ultrasound examinations (n = 23) in adult horses (≥2 years of age). A second group of normal adult ponies (n = 12) was studied as a reference group. Heparinized jugular venous blood samples were collected and centrifuged within 30 min, and the plasma was separated and frozen at −70 °C for subsequent batched cTnI analysis. The lower limit of detection was 0.01 ng/mL, and the upper limit was 100 ng/mL of plasma. Normal equine plasma cTnI concentrations ranged from 0.01 to 0.03 ng/mL (n = 12). Horses with non-arrhythmogenic murmurs (n = 4) included tricuspid (0.05 ng/mL cTnI), mitral (0.07), and aortic insufficiencies (0.01, 0.02). Horses with benign atrial fibrillation (n = 8) had a cTnI range of <0.01–0.09 ng/mL, with four horses having cTnI concentrations falling slightly outside the reference range (0.04, 0.05, 0.06, and 0.09). Horses with ventricular arrhythmias (ventricular premature contractions or ventricular tachycardia) and documentable myocardial toxicities or immunological reactions (n = 5) had cTnI concentrations of 0.05, 0.21, 0.31, 15.18, and >100 ng/mL. Horses with ventricular arrhythmias but no documentation of myocardial toxicity (n = 3) had cTnI concentrations of 0.34, 0.46, and 80.42 ng/mL. When grouped by arrhythmia type and compared using the Mann–Whitney Rank Sum Test, the median ventricular arrhythmia cTnI (0.40 ng/mL) was significantly higher than the median atrial fibrillation cTnI (0.04 ng/mL, p < 0.001). It was concluded that horses with myocardial toxicities and ventricular arrhythmias often had severe elevations in plasma cTnI. Full article

The present study aimed to evaluate the effects of chronic pimobendan monotherapy on cardiac size in dogs with stage B2 myxomatous mitral valve disease (MMVD). Data from 31 dogs diagnosed with MMVD and cardiomegaly (LA/Ao ≥ 1.6 and LVIDdn ≥ 1.7) were included. The intervention group were dogs treated with pimobendan (n = 24). Dogs not receiving any cardiac medication were controls (n = 7). Echocardiographic changes in left atrial and left ventricular dimensions were compared over time. There was significant group × time interaction for LVIDdN (p = 0.011) between diagnosis and initial follow-up (median 3–6 months). There was a significant reduction in LVIDdN over time in the pimobendan group (p = 0.038) but not in the control group (p = 0.216). There was no significant group × time interaction for LA/Ao, and there was no effect of group (p = 0.561), but LA/Ao in both groups decreased over time (p = 0.01). Restraint is advised when prescribing pimobendan based on the detection of a heart murmur where echocardiographic staging is an option. Some stage B2 dogs that received pimobendan no longer met the echocardiographic classification criteria for stage B2 MMVD and could have been misclassified as stage B1 and had their medication inappropriately withdrawn. We suggest these dogs are referred to as reverse remodelled stage B2. Full article

Heart murmurs are abnormal heart sounds that can indicate various heart diseases. Although traditional auscultation methods are effective, they depend more on specialists’ knowledge, making it difficult to make an accurate diagnosis. This paper presents a machine learning-based framework for the classification of acoustic sounds and heart murmurs using digital signal analysis. Using advanced machine learning algorithms, we aim to improve the accuracy, speed, and accessibility of heart murmur detection. The proposed method includes feature extraction from digital auscultatory recordings, preprocessing using signal processing techniques, and classification using state-of-the-art machine learning models. We evaluated the performance of different machine learning algorithms, such as convolutional neural networks (CNNs), random forests (RFs) and support vector machines (SVMs), on a selected heart noise dataset. The results show that our framework achieves high accuracy in differentiating normal heart sounds from different types of heart murmurs and provides a robust tool for clinical decision-making. Full article

Cardiovascular diseases (CVDs) are among the primary causes of mortality globally, highlighting the critical need for early detection to mitigate their impact. Phonocardiograms (PCGs), which record heart sounds, are essential for the non-invasive assessment of cardiac function, enabling the early identification of abnormalities such as murmurs. Particularly in underprivileged regions with high birth rates, the absence of early diagnosis poses a significant public health challenge. In pediatric populations, the analysis of PCG signals is invaluable for detecting abnormal sound waves indicative of congenital and acquired heart diseases, such as septal defects and defective cardiac valves. In the PhysioNet 2022 challenge, the murmur score is a weighted accuracy metric that reflects detection accuracy based on clinical significance. In our research, we proposed a mean teacher method tailored for murmur detection, making full use of the Phyionet2022 and Phyionet2016 PCG datasets, achieving the SOTA (State of Art) performance with a murmur score of 0.82 and an AUC score of 0.90, providing an accessible and high accuracy non-invasive early stage CVD assessment tool, especially for low and middle-income countries (LMICs). Full article