Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0392680 (shortness of breath)
 5,217 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Adult-onset glycogen storage disease type II (GSD-II), unlike the infantile form, is not normally associated with coexisting cardiovascular pathologies. In infantile onset GSD-II, cardiomyopathy is a common feature, and mutations in the genes for cardiac troponin T and I are likely to be involved. This case report describes a 39-year-old man with no classical risk factors for premature cardiac disease who presented with central chest pain and shortness of breath. Serum aspartate transaminase (AST) had been consistently elevated for 15 years. Adult GSD-II had been diagnosed two years previously by muscle biopsy. On presentation, there was an elevated serum creatine kinase and AST. Electrocardiography and echocardiography were both normal, and an acute coronary syndrome was ruled out. Cardiac Troponin T (cTnT) was found to be positive at 0.1 microg/L using a Cardiac Reader, subsequently confirmed on an Elecsys 1010 (both from Roche Diagnostics, Lewes, UK). cTnT may therefore be a useful biomarker in examining subclinical cardiac involvement in GSD-II patients.
 ...
PMID:Evidence of cardiomyocyte necrosis in glycogen storage disease type II. 1727 99

Four patients aged between 35 and 50 years attended the out patients department of a dental hospital for tooth extraction. Following administration of, what was thought to be the local anesthetic, Lignocaine, to the gum and sub mucosa, they all collapsed. What had, in fact, been injected was 1:1000 adrenaline. We would like to report the symptoms, signs and investigation findings that followed. Significantly elevated Troponin T, CPK (total), CPK (MB) and ECG changes were seen. Electromyography and Nerve Conduction Studies showed a myopathic pattern and reduction in motor and sensory conduction respectively. These patients were followed up for a period of five years. Long term effects such as tremor, muscle weakness, easy fatigability and shortness of breath on exertion, which is not reported in the literature, were reported by all patients.
 ...
PMID:Adrenaline toxicity following accidental administration of the 1:1000 solution during dental procedures: Four case reports. 2268 74

Cardiac amyloidosis (CA) is relatively rare and frequently misdiagnosed. Other disorders presenting with increased left ventricular (LV) mass can mimic its diagnosis. This case illustrates unique findings of primary light chain (AL) amyloidosis in a patient with remarkable signs of CA. Here, we report a 49-year-old man with prior diagnosis of hypertrophy cardiomyopathy (HCM) based on an echocardiogram performed 1 year earlier that presented with 8 weeks of periorbital rash. He had numbness in the past 3 years. More recently, he presented with shortness of breath. Physical examination was remarkable for periorbital purpura, macroglossia, and orthostatic hypotension. Cardiac auscultation showed S3 and S4. Electrocardiography (ECG) showed diffuse low-voltage QRS complexes. Echocardiography revealed severe diastolic impairment; granular "sparkling" pattern of the myocardium with thickened walls, interatrial septum, and valves; and pericardial effusion. Diastolic dysfunction and thick walls with low ECG voltage are compelling diagnostic findings. Laboratory work up showed increased free light chain-differential (FLC-diff), N-terminal fragment of brain natriuretic peptide (NT-BNP), and cardiac Troponin T (cTnT). Bone marrow biopsy confirmed AL amyloidosis. A diagnosis of AL amyloidosis with cardiac involvement mimicking HCM was made. The patient died during hospitalization due to sudden cardiac death. This cases illustrates the importance of the combination of clinical, serological, electro- and echocardiographic findings to establish the diagnosis of CA.
 ...
PMID:A rash with a heavy heart. 2868 86

A 74-year-old man, with inflammatory arthritis, recently commenced on adalimumab, presented with a 4-week history of left-sided chest pain, malaise and shortness of breath. Admission ECG showed age-indeterminate left bundle branch block. Troponin T was 4444 ng/L (normal range <15 ng/L) and acute coronary syndrome treatment was commenced. Catheter angiogram revealed mild-burden non-obstructive coronary disease. Cardiac magnetic resonance (CMR) was performed to refine the differential diagnosis and demonstrated no myocardial oedema or late gadolinium enhancement. Extracardiac review highlighted oedema and enhancement of the left shoulder girdle muscles consistent with acute myositis. Creatine kinase was subsequently measured and significantly elevated at 7386 IU/L (normal range 30-200 IU/L in men). Electrophoresis clarified that this was of predominantly skeletal muscle origin. Myositis protocol MRI revealed florid skeletal muscle oedema. The MR findings, together with positive anti-Scl-70 antibodies, suggested fulminant immune-mediated necrotising myopathy presenting as a rare mimic of myocardial infarction with non-obstructive coronary arteries, diagnosed by careful extracardiac CMR review.
 ...
PMID:Fulminant immune-mediated necrotising myopathy (IMNM) mimicking myocardial infarction with non-obstructive coronary arteries (MINOCA). 3313 59