Cardiovascular diagnosis and therapy
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Cardiovasc Diagn Ther · Apr 2021
ReviewNarrative review on Morbus Fabry: diagnosis and management of cardiac manifestations.
Fabry disease (FD) is an X-linked lysosomal storage disorder due to reduced or undetectable α-galactosidase A (AGAL-A) enzyme activity caused by pathogenic variants in the AGAL-A gene (GLA). Tissue and organ changes are caused by widespread progressive accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lysoGb3). The classical form of FD is multisystemic with cutaneous (angiokeratomas), neurological (peripheral neuropathy, premature stroke), renal (proteinuria and renal insufficiency), and cardiac involvement. ⋯ Betablockers should be used with caution due to bradycardia risk, amiodarone avoided if possible, and anticoagulation used from the first appearance of atrial fibrillation. In Fabry cardiomyopathy SCD calculators are inappropriate. The awareness of FD manifestations is essential for early identification of patients and timely treatment initiation.
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Cardiovasc Diagn Ther · Apr 2021
ReviewFabry disease: what the cardiologist should consider in non-cardiac screening, diagnosis, and management-narrative review.
Fabry disease (FD) is a rare X chromosomally transmitted lysosomal storage disorders with an absence or deficiency of the enzyme alpha-galactosidase. The deposition of globotriaosylceramide (Gb3) may cause damage to all organs, particularly brain, heart and kidney. While acroparaesthesia, hypo- or anhydrosis and diarrhoea are the main symptoms in childhood, cardiac involvement with left ventricular hypertrophy (LVH), renal insufficiency, diffuse pain attacks and apoplexy are the main symptoms in adulthood. ⋯ In 2016, chaperone therapy with the drug Migalastat was approved in the European Union, which leads to stabilisation of the defective alpha-galactosidase. Studies on gene therapy to cure FD in phase I/II. This review summarizes which patient should be screened, how to confirm the diagnosis and which examinations should be performed in FD patients during the course of the disease.
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Cardiovasc Diagn Ther · Apr 2021
Provision of medical health care for adults with congenital heart disease associated with aortic involvement.
All patients with congenital heart disease (CHD) are chronically ill from their cardiac disease. Despite the increasing evidence that aortic alterations are becoming relevant, the importance of aortopathy in CHD has long been underestimated. This study was conducted to determine the health status of patients and/or the provision of health services of adults with CHD (ACHD) with manifest aortopathy or at risk thereof. ⋯ Even today, aortic involvement in ACHD is an often-overlooked condition, although considerable negative effects on morbidity and mortality exist. As aortopathy gains in importance with increasing age and complexity of CHD, almost all affected ACHD need lifelong medical advice and access to modern, scientifically based care concepts. According to the study-results, primary care providers and also patients are mostly insufficiently informed about the specialized ACHD facilities. The future goal is therefore to create a better awareness of CHD problems among both primary care physicians and the patients concerned.
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Cardiovasc Diagn Ther · Apr 2021
Case ReportsSurgical treatment of ascending aorta floating thrombus in a patient with recent SARS-CoV-2 infection.
The 44-year-old female was admitted to the hospital due to the severe pain in the right arm. Doppler ultrasonography revealed occlusion of the right brachial and right common carotid artery. Subsequently, computed tomography (CT) scan confirmed the occlusion of the right brachial and common carotid artery, and revealed pedunculated floating ascending aortic mass. ⋯ The thrombus' fragile structure and high blood velocity through the ascending aorta significantly increases cerebral and peripheral embolization incidence, with potentially fatal outcome. Due to frequent adverse events, urgent surgical extirpation is the best therapy option. We presented successfully surgically treated giant floating thrombus in the ascending aorta and aortic arch in a patient with recent SARS-CoV-2 infection with acute right arm ischemia due to embolic complication.
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Cardiovasc Diagn Ther · Oct 2020
Safety and efficacy of the endothelin receptor antagonist macitentan in pediatric pulmonary hypertension.
Macitentan, a dual endothelin receptor antagonist (ERA), was approved in 2014 for the treatment of adults with idiopathic pulmonary arterial hypertension (PAH). Once-per-day dosing and low potential hepatic toxicity make macitentan an appealing therapeutic option for children with PAH, but reports on its use in pediatric patients are still lacking. ⋯ This is the first prospective study of macitentan pharmacotherapy in infants and children with PH <12 years of age. Except in one patient, macitentan treatment was well tolerated and was associated with improvements in invasive hemodynamics, longitudinal systolic RV function (TAPSE) and serum NT-proBNP values.