Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypertrophic obstructive cardiomyopathy represents a genetic disorder characterized by hypertrophy, usually asymmetrical, of the ventricular musculature at the base of the septum in the left ventricular efflux tract. Patients suffering from this disorder can be extremely sensitive to small alterations in ventricular volumes, arterial pressure, cardiac frequency and rhythm. This disorder is found in pregnancy with an incidence of 0.1-0.5% and, because of its gravity, represents a contraindication which is often absolute to pregnancy. Hemodynamic variations such as those found in pregnancy, labor and delivery have complex influences on hypertrophic cardiomyopathy. Our clinical series includes 2 pregnant patients suffering from hypertrophic obstructive cardiomyopathy who both underwent caesarian section in general anesthesia, the first due to the gravity of cardiac obstruction and the second due to the emergent need to proceed after the beginning of labor. The small number of clinical cases in the literature, especially in the last few years, clearly underlines the difficulty of defining both the most correct method for delivery and the most appropriate anesthesiological techniques. In accordance with the literature and our clinical experience, we can conclude that a carefully managed pregnancy can proceed without complications in patients with moderate obstruction and that a regional anesthesiological approach is also possible with careful hemodynamic monitoring. General anesthesia, however, remains the safest method and has fewer risks for patients with serious obstruction or with worsening of their clinical condition during pregnancy.
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PMID:Hypertrophic obstructive cardiomyopathy and pregnancy: anesthesiological observations and clinical series. 1766 Jul 42

A 74-year-old woman previously treated with percutaneous transluminnal septal myocardial ablation (PTSMA) for severe hypertrophic obstructive cardiomyopathy (HOCM) underwent laparoscopic cholecystectomy under general anesthesia. The PTSMA was performed for HOCM 5 month before surgery and the left ventricular outflow pressure gradient (LVOTG) was reduced from 100 mmHg to 30 mmHg. After anesthetic induction, severe hypotension occurred concomitantly with asymmetrical septal hypertrophy (ASH) and systolic anterior movement of the mitral valve leaflet (SAM). Hypotension was treated with fluid therapy and the vasopressors (methoxamine and noradrenaline). Care should be taken for the anesthetic management of a patient with HOCM even after PTSMA.
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PMID:[Anesthetic management of a patient with HOCM even after PTSMA]. 1897 49

Only three facioscapulohumeral muscular dystrophy (FSHD) patients have been reported to have cardiomyopathy. An asymptomatic 38-year-old man was incidentally found to have electrocardiographic abnormalities. His echocardiogram demonstrated mild dilatation of the left ventricle and poor contractility. Cardiac histopathology indicated hypertrophic cardiomyopathy. Later he developed muscle weakness in the right arm. Scapular winging and asymmetrical facial weakness were evident. Muscle biopsy at the age of 44 years showed myopathic changes consistent with FSHD. His daughter had symptoms of infantile FSHD, which was genetically confirmed. This is the first report of an FSHD patient with biopsy-proven cardiomyopathy.
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PMID:Facioscapulohumeral muscular dystrophy presenting with hypertrophic cardiomyopathy: a case study. 1914 53

We report a case of an apical ballooning syndrome using classical and high quality imagery. Co-existing features of asymmetrical septal hypertrophy, outflow tract obstruction, systolic anterior mitral valve motion and LAD myocardial bridging make the underlying patho-physiology difficult to ascertain. In conclusion we believe that this single case will promote discussion and add to an expanding literature base of the tako-tsubo cardiomyopathy syndrome.
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PMID:Tako-tsubo, hypertrophic obstructive cardiomyopathy & muscle bridging--separate disease entities or a single condition? 1942 31

The aetiology of left ventricular hypertrophy (LVH) in an athlete is often difficult to identify. We describe a 29-year-old fitness instructor who was referred for investigation of syncope. He gave a history of intensive weight lifting and anabolic steroid use at supra-therapeutic doses for the preceding 6 years. Electrocardiography showed inferolateral repolarisation abnormalities and a transthoracic echocardiogram demonstrated asymmetrical LVH with reduced left ventricular cavity dimensions. There was no left ventricular outflow tract obstruction or systolic motion of the anterior mitral valve leaflet. These findings were confirmed on cardiac magnetic resonance imaging (CMR). The differential diagnosis included athlete's heart, steroid-induced cardiomyopathy and non-obstructive hypertrophic cardiomyopathy. The patient was advised to discontinue both steroid use and intensive training. After 3 years of steroid abstinence but continued training, the syncopal episodes and the ECG abnormalities completely resolved, associated with regression of LVH on echocardiography and CMR.
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PMID:Identifying the aetiology of left ventricular hypertrophy in an athlete: importance of lifestyle modification. 2213 27

Left-sided ventricular arrhythmogenic cardiomyopathy is rare and represents a rather different expression of the arrhythmogenic right ventricular (RV) cardiomyopathy (ARVC). Among sudden cardiac deaths, ARVC plays a significant role. ARVC is considered as a cardiomyopathy of unknown aetiology that primarily involves the right ventricle (RV) and is characterized by progressive replacement of myocytes by fibro-fatty tissue, complicating a spectrum of arrhythmias. Predominant ARVC with left ventricular (LV) involvement is also reported. The LV variant of arrhythmogenic cardiomyopathy with minimal or no RV involvement is rare. A 31-year-old previously healthy young man, without a significant family history, was found dead in bed. Autopsy revealed an enlarged heart and asymmetrical LV hypertrophy with widely patent coronary arteries. LV myocardium demonstrated evidence of prominent epicardial fibro-fatty tissue that is predominantly fatty in nature and infiltrates into the myocardium. Microscopy of the LV free wall showed fibro-fatty tissue infiltration into the epicardial aspect of the LV that extends well into the mid-myocardium. A moderate to marked degree of interstitial fibrous tissue deposition was noted about adipocytes and cardiomyocytes. There was no evidence of chronic ischaemic changes or of significant myofibre disarray. The RV showed minimal fibro-fatty infiltration with normal myocytes. This report highlights a rare case which confirms previous observations that the LV variant of arrhythmogenic cardiomyopathy could occur with minimal or no involvement of the RV. Further studies are required in this context to elicit the spectrum and the exact nature of this disease.
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PMID:Left-sided ventricular cardiomyopathy with minimal right ventricular involvement. 2242 88

Severe asymmetrical hypertrophic cardiomyopathy without heart block accompanied by neuromuscular hypotonia and feeding difficulties was evident shortly after birth in the second child of a mother with systemic lupus erythematosus who had no indication of gestational diabetes. High-level anti-ribonucleoprotein (RNP) and Smoth (Sm) antibodies arising from transplacental transfer of maternal antibodies were detected in the child's serum. The cardiac abnormalities improved with a commensurate decline in antibody titers. Previously reported cases of neonatal cardiomyopathy with endocardial fibroelastosis have been ascribed to the transplacental transfer of maternal Sjogrens Syndrome (SS) A (Ro) and Sjogrens Syndrome (SS) B (La) antibodies and have been more severe and persistent compared with our patient. We advocate close monitoring of all babies of mothers with systemic autoimmunity for changes in heart rate during pregnancy and signs of heart failure and neuromuscular weakness after delivery.
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PMID:Resolution of neonatal hypertrophic cardiomyopathy presumed secondary to acquired maternal ribonucleoprotein and smith autoantibodies. 2414 43

A 75-year-old female presented for left total hip reimplantation and suffered pulseless electrical activity arrest upon lateral positioning and administering vancomycin. Resuscitation was achieved according to Advanced Cardiac Life Support protocol. Post-event echocardiography showed hypertrophic cardiomyopathy with asymmetrical septal thickening, an under-filled left ventricle, dynamic left ventricular outflow obstruction, and severe mitral regurgitation related to systolic anterior motion of the mitral valve. Laboratory analysis showed a tryptase level of 209 ng/mL. After multispecialty evaluation, it was concluded that the patient's arrest was due to vancomycin anaphylaxis in the setting of previously undiagnosed hypertrophic cardiomyopathy leading to acute left ventricular outflow tract obstruction. After medical optimization of the patient's cardiomyopathy and an evaluation of potential intraoperative allergic triggers, the patient underwent a successful hip reimplantation without incident. This case presents a novel combination of events leading to intraoperative cardiac arrest. Rapid identification and an understanding of the cause(s) of cardiac arrest in this setting are critical for effective perioperative care.
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PMID:A rare combination of undiagnosed hypertrophic cardiomyopathy revealed by intraoperative anaphylaxis resulting in acute left ventricular outflow obstruction and cardiac arrest. 2837 94

Mutations in the LDB3 gene have been identified in patients with Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP)-related myofibrillar myopathy (ZASP-MFM) characterized by late-onset distal myopathy with signs of cardiomyopathy and neuropathy. We describe an autosomal dominant inherited pedigree with ZASP-MFM that is in line with the typical phenotype of distal myopathy without cardiomyopathy and neuropathy, while mild asymmetrical muscle atrophy can be observed in some affected members. Muscle MRI revealed considerable fatty degeneration involved in the posterior compartment of thigh and lower leg, but relatively preserved in rectus femoris, sartorius, gracilis, adductor longus and biceps femoris breve muscles in the later stage. In addition, fatty infiltration of medial gastrocnemius muscle can be initiated as early as in the third decade in asymptomatic individuals. Myopathological features showed sarcoplasmic accumulation of multiple protein deposits and electron dense filamentous bundle aggregates. A novel heterozygous missense mutation (p.N155H) in a highly conserved PDZ-like motif of ZASP was identified. The results indicate that typical ZASP-MFM presenting with late-onset distal myopathy is commonly associated with mutations in PDZ-like motif of ZASP. The development of fatty degeneration is consistent with the typical pattern of ZASP-MFM, and the initial fatty infiltration might be started from medial gastrocnemius muscle. Our study expands the clinical and mutational spectrum of ZASP-MFM.
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PMID:A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy. 2754 99

Basal septal hypertrophy is a rare and unique anatomical finding associated with hypertrophic cardiomyopathy (HCM). It is also described as a sigmoid hypertrophy and is linked with aging and chronic hypertension. Takotsubo cardiomyopathy is a transient cardiomyopathy that occurs during periods of high physical or emotional stress. Its occurrence with HCM is relatively common; however, this presentation occurs more often with the classic asymmetrical septal hypertrophy or the apical variant. This case demonstrates its coexistence with isolated sigmoid hypertrophy in an elderly, hypertensive female with severe ischemic bowel disease.
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PMID:Takotsubo cardiomyopathy with Basal Hypertrophy and outflow obstruction in a patient with bowel ischemia. 2961 40


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