Heart valve disease (HVD) is one of the common cardiovascular diseases. Heart sound is an important physiological signal for diagnosing HVDs. This paper proposed a model based on combination of basic component features and envelope autocorrelation features to detect early HVDs. Initially, heart sound signals lasting 5 minutes were denoised by empirical mode decomposition (EMD) algorithm and segmented. Then the basic component features and envelope autocorrelation features of heart sound segments were extracted to construct heart sound feature set. Then the max-relevance and min-redundancy (MRMR) algorithm was utilized to select the optimal mixed feature subset. Finally, decision tree, support vector machine (SVM) and k-nearest neighbor (KNN) classifiers were trained to detect the early HVDs from the normal heart sounds and obtained the best accuracy of 99.9% in clinical database. Normal valve, abnormal semilunar valve and abnormal atrioventricular valve heart sounds were classified and the best accuracy was 99.8%. Moreover, normal valve, single-valve abnormal and multi-valve abnormal heart sounds were classified and the best accuracy was 98.2%. In public database, this method also obtained the good overall accuracy. The result demonstrated this proposed method had important value for the clinical diagnosis of early HVDs.
Humans ; Heart Sounds ; Heart Valve Diseases/diagnosis* ; Algorithms ; Support Vector Machine ; Signal Processing, Computer-Assisted

Shone complex is a rare congenital disorder that involves 4 obstructive lesions of the left heart, as follows: parachute mitral valve, supravalvular mitral ring, subaortic stenosis, and coarctation of the aorta. Incomplete forms with 2 or 3 of these lesions in adult patients have been rarely reported in the literature, meaning that insufficient general data exist concerning the surgical strategy and clinical follow-up. Herein, we report the case of a 31-year-old woman with a diagnosis of incomplete form of Shone complex with parachute mitral valve and coarctation of the aorta who underwent successful single-stage surgical repair.
Adult ; Aortic Coarctation ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Constriction, Pathologic ; Diagnosis ; Female ; Follow-Up Studies ; Heart ; Heart Defects, Congenital ; Humans ; Mitral Valve

Noonan syndrome (NS) and NS-related disorders (cardio-facio-cutaneous syndrome, Costello syndrome, NS with multiple lentigines, or LEOPARD [lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth and sensory neural deafness] syndrome) are collectively named as RASopathies. Clinical presentations are similar, featured with typical facial features, short stature, intellectual disability, ectodermal abnormalities, congenital heart diseases, chest & skeletal deformity and delayed puberty. During past decades, molecular etiologies of RASopathies have been growingly discovered. The functional perturbations of the RAS-mitogen-activated protein kinase pathway are resulted from the mutation of more than 20 genes (PTPN11, SOS1, RAF1, SHOC2, BRAF, KRAS, NRAS, HRAS, MEK1, MEK2, CBL, SOS2, RIT, RRAS, RASA2, SPRY1, LZTR1, MAP3K8, MYST4, A2ML1, RRAS2). The PTPN11 (40–50%), SOS1 (10–20%), RAF1 (3–17%), and RIT1 (5–9%) mutations are common in NS patients. In this review, the constellation of overlapping clinical features of RASopathies will be described based on genotype as well as their differential diagnostic points and management.
Congenital Abnormalities ; Costello Syndrome ; Diagnosis ; Ectoderm ; Electrocardiography ; Genitalia ; Genotype ; Heart Diseases ; Humans ; Hypertelorism ; Intellectual Disability ; Lentigo ; Noonan Syndrome ; Panthera ; Protein Kinases ; Puberty, Delayed ; Pulmonary Valve Stenosis ; Thorax

Degenerative mitral valve disease (DMVD) is the most commonly acquired cardiac disease in dogs. This study evaluated the relationship between genetic variations in the serotonin transporter (SERT) gene of Maltese dogs and DMVD. Genomic DNA was extracted from blood samples collected from 20 client-owned DMVD Maltese dogs and 10 healthy control dogs, and each exon of the SERT gene was amplified via polymerase chain reaction. The resulting genetic sequences were aligned and analyzed for variations by comparing with reference sequences; the predicted secondary structures of these variations were modeled and cross-verified by applying computational methods. Genetic variations, including five nonsynonymous genetic variations, were detected in five exons. Protein structure and function of the five nonsynonymous genetic variations were predicted. Three of the five polymorphisms were predicted to be probable causes of damage to protein function and confirmed by protein structure model verification. This study identified six polymorphisms of the SERT gene in Maltese dogs with DMVD, suggesting an association between the SERT gene and canine DMVD. This is the first study of SERT mutation in Maltese dogs with DMVD and is considered a pilot study into clinical genetic examination for early DMVD diagnosis.
Animals ; Diagnosis ; DNA ; Dogs ; Exons ; Genetic Variation ; Heart Diseases ; Mitral Valve ; Pilot Projects ; Polymerase Chain Reaction ; Serotonin Plasma Membrane Transport Proteins ; Serotonin

Peroneal neuropathy is a common mononeuropathy of the lower limb. Some studies have reported cases of peroneal neuropathy after vascular surgery or intervention. However, no cases of peroneal neuropathy with occlusion of a single peripheral artery have been previously reported. A 73-year-old man was referred with a 3-week history of left-sided foot drop. He had a history of valvular heart disease and arrhythmia, and had previously been treated with percutaneous coronary intervention. Computed tomography angiogram of the lower extremity showed proximal occlusion of the left anterior tibial artery. An electrodiagnostic study confirmed left common peroneal neuropathy. After diagnosis, anticoagulation therapy was started and he received physical therapy.
Aged ; Arrhythmias, Cardiac ; Arteries ; Diagnosis ; Foot ; Heart Valve Diseases ; Humans ; Ischemia ; Lower Extremity ; Mononeuropathies ; Percutaneous Coronary Intervention ; Peroneal Neuropathies* ; Tibial Arteries*

The electrical impulses of atrium arise from the sinus node, subsequently pass through the right and left atrium, and finally arrive at the atrioventricular node. The P wave is the summation of the electrical current generated by depolarization due to its passage through the atrial conduction pathway. It provides many clinical clues that may be useful for diagnosis of atrial, ventricular, or valvular heart diseases. This review article briefly describes the clinical implications, mechanism of genesis, and normal and pathologic features of the P wave.
Atrioventricular Node ; Diagnosis ; Heart Atria ; Heart Valve Diseases ; Sinoatrial Node

INTRODUCTIONWe assessed the local prevalence, characteristics and 10-year outcomes in a heart failure (HF) cohort from the emergency room (ER).

MATERIALS AND METHODSPatients presenting with acute dyspnoea to ER were prospectively enrolled from December 2003 to December 2004. HF was diagnosed by physicians' adjudication based on clinical assessment and echocardiogram within 12 hours, blinded to N-terminal-pro brain natriuretic peptide (NT-proBNP) results. They were stratified into heart failure with preserved (HFPEF) and reduced ejection fraction (HFREF) by left ventricular ejection fraction (LVEF).

RESULTSAt different cutoffs of LVEF of ≥50%, ≥45%, ≥40%, and >50% plus excluding LVEF 40% to 50%, HFPEF prevalence ranged from 38% to 51%. Using LVEF ≥50% as the final cutoff point, at baseline, HFPEF (n = 35), compared to HFREF (n = 55), had lower admission NT- proBNP (1502 vs 5953 pg/mL, P <0.001), heart rate (86 ± 22 vs 98 ± 22 bpm, P = 0.014), and diastolic blood pressure (DBP) (75 ± 14 vs 84 ± 20 mmHg, P = 0.024). On echocardiogram, compared to HFREF, HFPEF had more LV concentric remodelling (20% vs 2%, P = 0.003), less eccentric hypertrophy (11% vs 53%, P <0.001) and less mitral regurgitation from functional mitral regurgitation (60% vs 95%, P = 0.027). At 10 years, compared to HFREF, HFPEF had similar primary endpoints of a composite of cardiovascular death, non-fatal myocardial infarction, non-fatal stroke, and rehospitalisation for congestive heart failure (CHF) (HR 0.886; 95% CI, 0.561 to 1.399; P = 0.605), all-cause mortality (HR 0.663; 95% CI, 0.400 to 1.100; P = 0.112), but lower cardiovascular mortality (HR 0.307; 95% CI, 0.111 to 0.850; P = 0.023).

CONCLUSIONIn the long term, HFPEF had higher non-cardiovascular mortality, but lower cardiovascular mortality compared to HFREF.

Aged ; Aged, 80 and over ; Cardiovascular Diseases ; mortality ; Dyspnea ; diagnosis ; physiopathology ; Echocardiography ; Emergency Service, Hospital ; Female ; Heart Failure ; blood ; diagnostic imaging ; epidemiology ; physiopathology ; Humans ; Hypertrophy, Left Ventricular ; Male ; Middle Aged ; Mitral Valve Insufficiency ; epidemiology ; Myocardial Infarction ; epidemiology ; Natriuretic Peptide, Brain ; blood ; Peptide Fragments ; blood ; Prevalence ; Prospective Studies ; Singapore ; epidemiology ; Stroke ; epidemiology ; Stroke Volume ; Tertiary Care Centers ; Ventricular Remodeling

PURPOSE: Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. METHODS: A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome. RESULTS: The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome. CONCLUSION: Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.
Abnormalities, Multiple ; Aortic Coarctation ; Aortic Valve Stenosis ; Cause of Death ; Counseling ; Diagnosis ; Early Diagnosis ; Follow-Up Studies ; Genetic Testing ; Heart Defects, Congenital ; Heart Diseases ; Heart* ; Humans ; Hypoplastic Left Heart Syndrome ; Intellectual Disability ; Mitral Valve Stenosis ; Prevalence ; Retrospective Studies

Knowledge of mitral regurgitation (MR) is essential for any care provider, and not only for those directly involved in the management of cardiovascular diseases. This happens because MR is the most frequent valvular lesion in North America and the second most common form of valve disease requiring surgery in Europe. Furthermore, due to the ageing of the general population and the reduced mortality from acute cardiovascular events, the prevalence of MR is expected to increase further. Doppler echocardiography is essential both for the diagnosis and the clinical management of MR. In the present article, we sought to provide a practical step-by-step approach to help either performing a Doppler echocardiography or interpreting its findings in light of contemporary knowledge on organic (but not only) MR.
Cardiovascular Diseases ; Diagnosis* ; Echocardiography ; Echocardiography, Doppler* ; Europe ; Heart Failure ; Mitral Valve Insufficiency* ; Mortality ; North America ; Prevalence

Mitral valvular prolapse (MVP) in dogs is characterized by myxomatous valvular degeneration, which is caused by abnormal valvular thickening and incomplete coaptation of the mitral valve leading to mitral regurgitation. Mitral regurgitation causes left atrial and left ventricular enlargement. Pathogenesis of the disease is unknown, although some studies have suggested the involvement of endothelin and systemic connective tissue diseases. Mitral valvular prolapse in dogs commonly occurs in aged small dog breeds, including Malteses and Shih Zhus. This case study investigated the clinical features of an affected Maltese family and performed pedigree analysis. To the best of the authors' knowledge, this is the first report of putative familial mitral valve prolapse and regurgitation in Maltese dogs. All family members in this study showed degenerative valvular changes and echocardiographic features of mitral valvular prolapse. Although disease progression differed, all dogs progressed to advanced heart failure stage within 2-3 years after diagnosis. Therefore, this is the first study to identify putative familial mitral valve prolapse in Maltese dogs. This finding suggests strong genetic etiology involved in the development of degenerative mitral valve disease in Maltese dogs. Furthermore, this finding could be a valuable resource for the identification of gene mutations in dogs with familial mitral valvular prolapse.
Animals ; Connective Tissue Diseases ; Diagnosis ; Disease Progression ; Dogs* ; Echocardiography ; Endothelins ; Heart Failure ; Humans ; Mitral Valve ; Mitral Valve Insufficiency ; Mitral Valve Prolapse* ; Pedigree ; Prolapse