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Mitral Valve Prolapse
Published in Charles Theisler, Adjuvant Medical Care, 2023
Mitral valve prolapse, or a leaky valve, causes a systolic heart murmur (click murmur) heard on auscultation. Many patients with mitral valve prolapse have no symptoms. Mitral valve prolapse usually is asymptomatic, nonprogressive, and benign.1 When symptoms are present, they can include palpitations, anxiety, rapid heart rate, shortness of breath, and weakness, but it is uncertain if the prolapse is the actual cause of these symptoms. Mitral valve prolapse does not increase the risk of heart attack, death, or other heart problems.2 Most cases of mitral valve prolapse are not serious and only need to be monitored.
Cardiovascular Disease in Women
Published in Stephen T. Sinatra, Mark C. Houston, Nutritional and Integrative Strategies in Cardiovascular Medicine, 2022
Stephen T. Sinatra, Sara Gottfried
It would take almost 20 years before sophisticated echocardiographic techniques were able to point out the phenomena of DD.82 Looking back, he suspected that many of these patients had shortness of breath because of DD. Although many patients with mitral valve prolapse symptoms were treated with beta-blockers, his interest in metabolic cardiology was actually the most effective and therapeutic treatment in patients with MVP as many patients did not respond well on beta-blocking meds. Interestingly, the conventional literature attests to the efficacy of magnesium.
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).
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