China
Africa
Explore chapters and articles related to this topic
Cardiac diseases in pregnancy
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Saravanan Kuppuswamy, Sudarshan Balla
Although the majority of patients with mitral valve prolapse are asymptomatic, some patients may experience palpitations, fatigue, and chest pain. On physical examination, mid-systolic ejection click and a murmur of MR may be heard. Management of MVP is similar to patients with MR. Infective endocarditis prophylaxis is no longer recommended (44) (see section on antibiotic prophylaxis below).
The Mitral Valve
Published in Theo Kofidis, Minimally Invasive Cardiac Surgery, 2021
Surgical mitral valve repair and replacement is well established as a safe and effective procedure in patients with degenerative or functional mitral regurgitation. However, some patients have multiple comorbidities that place them at extreme risk, making less invasive surgery a better option – TMVR. With careful patient selection in highly experienced centers, the mortality with TMVR is low. TMVR can be performed either via a retrograde transapical approach or an antegrade trans-septal approach (Figure 9.2.31).
The Cardiovascular System and its Disorders
Published in Walter F. Stanaszek, Mary J. Stanaszek, Robert J. Holt, Steven Strauss, Understanding Medical Terms, 2020
Walter F. Stanaszek, Mary J. Stanaszek, Robert J. Holt, Steven Strauss
Auscultation involves listening for sound within the body. It can be as simple as using a stethoscope to detect Korotkoffsounds (the sounds of blood flow through compressed veins when measuring blood pressure with a sphygmomanometer) or more complex such as listening to the heart with a stethoscope to detect unusual sounds and analyze the phases of the cardiac cycle. Variations in the four basic heart sounds, the presence of opening snaps from the valves, ejection sounds, systolic clicks of the mitral valve, or the more prolonged sounds of murmurs can aid the diagnosis of mitral valve disease, valvular regurgitation, and various cardiomyopathies. The use of microphones on the chest wall allows the graphic display of heart sounds and phonocardiography allows further refinement in determining the source of irregular heart sounds and isolating the focus of a disorder.
Maternal Germline Mosaicism of a de Novo TUBB2B Mutation Leads to Complex Cortical Dysplasia in Two Siblings
Published in Fetal and Pediatric Pathology, 2022
Physical examination revealed severe intellectual disability, inability to speak and walk, meaningless sounds, nonresponsiveness to verbal commands, no visual object tracking, oculomotor apraxia, weak head control, brachycephaly, high palate, thin and atrophic-looking extremities (due to non-use), excessive pronation of hands, contractures of lower extremities, scoliosis, pectus excavatum, flexion deformity of feet, positive deep tendon reflexes, negative clonus, and Babinski reflex. The radiologist reported MRI performed approximately ten years ago as normal. However, current MRI showed a small brain stem, a disproportionately small tectum, thin and dysgenetic corpus callosum, partial fusion of the basal ganglia, diffuse pachygyria, ventriculomegaly, and simplified hippocampi (Figure 1). There was mitral valve prolapse (MVP) by echocardiography. With these findings, we considered a neurogenetic disease but did not have a specific diagnosis.
Vascular manifestations and kyphoscoliosis due to a novel mutation of PLOD1 gene
Published in Acta Cardiologica, 2021
Piotr Zieminski, Jessie Risse, Anne Legrand, Virginie Dufrost, Laurence Bal, Nicla Settembre, Sergueï Malikov, Xavier Jeunemaitre, Denis Wahl, Stéphane Zuily
Ehlers-Danlos syndromes (EDS) are a group of rare genetic disease, composed of 13 subtypes, which affect the connective tissue, predisposing to various severe complications including the cardiovascular system. Cardiovascular complications are potentially life-threatening and well described within the vascular subtype of EDS (vEDS) related to COL3A1 gene mutation. It includes spontaneous vascular dissections and aneurysms or dysplastic aspects of large and medium-sized vessels (e.g. aorta, coronary and carotid arteries, or any peripheral artery), with an early age at onset. Mitral valve prolapse is also commonly seen. Therefore, vEDS patients should be screened for aortic root aneurysm, valvular involvement, dysplastic arteries or aneurysms/dissections of medium-sized arteries. Management of arterial hypertension is mandatory, as well as avoiding invasive procedures, given the underlying tissue fragility and the risk of artery dissections as well as organs ruptures. Scarce data have shown recently that patients with other subtypes of EDS could have an increased risk of vascular complications. Our case highlights the vascular risk in kEDS patients therefore supporting similar cardiovascular management as in vEDS patients.
Systemic manifestations of Ehlers-Danlos syndrome
Published in Baylor University Medical Center Proceedings, 2021
Bo Song, Peter Yeh, John Harrell
About 30% of patients in this study had been diagnosed with at least one cardiac condition, the most common being arrhythmia (23%), aortic root dilatation (15%), and valvular anomalies (9%). Similarly, Antani et al reported 34% of patients with diagnosed cardiac anomalies.23 While cardiac conditions are known to be highly associated with disorders of hypermobility due to collagen abnormalities in the vasculature, there is a lack of studies reporting prevalence. Of note, EDS patients are also at risk for other complications including aortic regurgitation, aortic root dilation, valvular anomalies, and Raynaud phenomenon.4 Insidious symptoms such as chest discomfort, presyncope, and palpitations should be thoroughly worked up, as they may be life-threatening indications of mitral valve prolapse.4