Symmetric Hypertrophy Research Articles

An unusual association of endomyocardial fibrosis and hypertrophic cardiomyopathy in a patient with heart failure

A 69-year-old female patient presented heart failure with preserved ejection fraction and atrial fibrillation. Echocardiography and late gadolinium enhancement magnetic resonance imaging were suggestive of endomyocardial fibrosis (EMF). The patient underwent cardiac surgery, and after surgery, she developed low cardiac output syndrome and died. Postmortem examination revealed residual fibrosis of the left ventricle (LV), mild endocardial fibrous deposition of the right ventricle, and severe concentric, symmetrical LV hypertrophy. Histological examination of the surgically resected material from the LV confirmed EMF. Histopathology of the interventricular septum disclosed myocardial hypertrophy and disarray plus fine interstitial fibrosis, typical of hypertrophic cardiomyopathy. The present case illustrates the association of two different patterns of cardiomyopathies in the same patient.

Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion

We report the detailed clinical presentation and molecular features of a spinal neurofibromatosis familial case where a 40-year-old woman, presenting with multiple bilateral spinal neurofibromas and no other clinical feature of neurofibromatosis type 1 (NF1), inherited a paternal large multiexonic deletion (c.5944-?_7126+?del) which resulted in NF1 gene haploinsufficiency at the RNA level. In the clinically unaffected 73-year-old father, spinal cord MRI disclosed bilateral and symmetrical hypertrophy of spinal lumbosacral roots. Our study widens the phenotypic and mutational spectrum of NF1 and illustrates the difficulties of counseling patients with border-line or atypical presentation of this disorder.

Linksherzhypertrophie bei der Katze – «wenn eine hypertrophe Kardiomyopathie keine hypertrophe Kardiomyopathie ist»

According to WHO classification hypertrophic cardiomyopathy (HCM) is a primary genetic cardiomyopathy. Echocardiographically HCM is characterized by symmetric, asymmetric or focal left ventricular hypertrophy (LVH) without recognizable underlying physical cause. However, echocardiographically HCM in cats may not be distinguishable from other causes of a thick appearing left ventricle. Hypovolemia can look like a hypertrophied ventricle but is basically only pseudohypertrophic. Well recognized and logical physical causes of LVH include systemic hypertension and outflow obstruction. LVH similar to HCM may also be found in feline hyperthyroidism. The context of the disease helps to differentiate these physical / physiological causes of LVH. Difficult to distinguish from HCM, particularly when based on a snapshot of a single echocardiographic exam, are myocarditis and <<steroid-induced HCM>>. Only the clinical and echocardiographic course allow a reasonably confident etiological diagnosis and the differentiation between HCM and secondary LVH.

Friedreich Ataxia (Fa) Associated with Diabetes Mellitus Type 1 and Hyperthrophic Cardiomyopathy

Progressive signs of ataxia in a eight years old girl prompted neurological investigation. The girl had unstable gait with incoordination of limb movements, impairment of position and vibratory senses, dysarthria, pes cavus, positive Babinski sign and scoliosis. At the age of fourteen the girl was referred in a comatose condition, in a severe diabetic ketoacidosis. Ataxia and hypoactive knee and ankle jerks prompted the analysis of the frataxin gene (FXN; 606829). The most common molecular abnormality: GAA trinucleotide repeat expansion in intron 1 was found with + 300 GAA repeats (1490bp) (normal individuals have 5 to 30 GAA repeat expansions, whereas affected individuals have from 70 to more than 1,000 GAA triplets). Electrocardiogram showed diffuse T wave inversion with sinus bradycardia, while ultrasound revealed concentric, symmetric hypertrophy of left ventricle leading to the diagnosis of hyperthrophic cardiomyopathy. At the age of 14 years, the patient was bound to the wheel-chair, unable to walk. Her brother started to show ataxia at the age of 8 years, and subsequent analysis showed hyperthrophic cardiomyopathy, too. His mutational analysis revealed the same frataxin abnormality, with + 300 GAA repeats. So far, no signs of diabetes occurred. The parents are heterozygous with FXN of 9 -10 GAA (490 bp). Both children received a beta blocker, while the girl's diabetes mellitus was treated by insulin preparations. This is a report of two siblings with Fridreich ataxia and hyperthrophic cardiomyopathy. In addition, the girl developed type 1 diabetes mellitus.

Intensity, repetitiveness, and directionality of habitual adolescent mobility patterns influence the tibial diaphysis morphology of athletes

Mobility patterns affect the loads placed on the lower limbs during locomotion and may influence variation in lower limb diaphyseal robusticity and shape. This relationship commonly forms the basis for inferring mobility patterns from hominin fossil and skeletal remains. This study assesses the correspondence between athletic histories, varying by loading intensity, repetition and directionality, measured using a recall questionnaire, and peripheral quantitative computed tomography-derived measurements of tibial diaphysis rigidity and shape. Participants included male university varsity cross-country runners (n = 15), field hockey players (n = 15), and controls (n = 20) [mean age: 22.1 (SD +/- 2.6) years]. Measurements of tibial rigidity (including J, %CA, Imax, Imin, and average cortical thickness) of both runners and field hockey players were greater than controls (P < or = 0.05). Differences in tibial shape (Imax/Imin, P < or = 0.05) between runners and hockey players reflect pronounced maximum plane (Imax) rigidity in runners, and more symmetrical hypertrophy (Imax, Imin) among hockey players. This corresponds with the generally unidirectional locomotor patterns of runners, and the multidirectional patterns of hockey players. These results support the relationship between mobility and tibial diaphysis morphology as it is generally interpreted in the anthropological literature, with greater levels of mobility associated with increased diaphyseal robusticity and shape variation. Although exercise intensity may be the primary influence on these properties, the repetitiveness of the activity also deserves consideration. In conclusion, bone morphological patterns can reflect habitual behaviors, with adaptation to locomotor activities likely contributing to variation in tibial rigidity and shape properties in archaeological and fossil samples.

Delayed-Enhanced Cardiac MRI for Differentiation of Fabry's Disease from Symmetric Hypertrophic Cardiomyopathy

Fabry's disease may be difficult to differentiate from symmetric hypertrophic cardiomyopathy. Our aim was to compare the myocardial location and distribution patterns of delayed enhancement between patients with Fabry's disease who are affected by symmetric myocardial hypertrophy and patients with symmetric hypertrophic cardiomyopathy in order to identify a specific sign to best differentiate the two diseases. Patients with Fabry's disease-related hypertrophy showed left ventricular (LV) delayed enhancement with a typical and consistently found pattern characterized by the involvement of the inferolateral basal or mid basal segments and a mesocardial distribution that spared the subendocardium. This pattern seems to be specific to Fabry's disease; in fact, patients with symmetric hypertrophic cardiomyopathy had variable locations and distributions of delayed enhancement. These observations may contribute to identifying Fabry's disease as a specific cause of symmetric hypertrophy.

Cardiac JAK2 Mutation V617F in a Patient with Cardiomyopathy and Myeloproliferative Disease

Letters1 July 2008Cardiac JAK2 Mutation V617F in a Patient with Cardiomyopathy and Myeloproliferative DiseaseStefan Gattenlohner, MD, Georg Ertl, MD, Hermann Einsele, MD, Stefan Kircher, MD, Hans-Konrad Muller-Hermelink, MD, and Alexander Marx, MDStefan Gattenlohner, MDFrom the University of Wuerzburg, Wuerzburg 97080, Germany.Search for more papers by this author, Georg Ertl, MDFrom the University of Wuerzburg, Wuerzburg 97080, Germany.Search for more papers by this author, Hermann Einsele, MDFrom the University of Wuerzburg, Wuerzburg 97080, Germany.Search for more papers by this author, Stefan Kircher, MDFrom the University of Wuerzburg, Wuerzburg 97080, Germany.Search for more papers by this author, Hans-Konrad Muller-Hermelink, MDFrom the University of Wuerzburg, Wuerzburg 97080, Germany.Search for more papers by this author, and Alexander Marx, MDFrom the University of Wuerzburg, Wuerzburg 97080, Germany.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-149-1-200807010-00027 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Background: A Janus kinase 2 gene mutation known as JAK2mutV617F in hematopoietic progenitor cells causes most Philadelphia chromosome–negative myeloproliferative disorders (MPDs) (1) and may be associated with cardiac hypertrophy.Objective: To describe the first case of an MPD associated with primary cardiomyopathy in which JAK2mutV617F was found in both myeloid cells and some cardiomyocytes.Case Report: A 54-year-old woman with JAK2mutV617F-positive primary myelofibrosis (PMF) underwent splenectomy for symptomatic splenomegaly. She died on postoperative day 3 because of refractory ventricular fibrillation.Autopsy revealed symmetric cardiac hypertrophy (weight, 725 g), normal coronary arteries and valves, and no evidence of infarction or thromboembolism. ...

Macromelia Masquerading as an Acromegaloid Syndrome in an Adult with Klippel-Trénaunay Syndrome

ObjectiveTo describe a case of Klippel-Trénaunay syndrome in an adult patient with symmetric macromelia suggestive of an acromegaloid syndrome. MethodsWe report clinical and laboratory data that were extracted from the medical records of the study patient. We also survey the relevant reports identified through a MEDLINE search of the English-language literature published between January 1, 1996, and June 2, 2007, using the phrase, Klippel-Trénaunay syndrome. ResultsA 28-year-old man was admitted to the hospital for weeping lymphedema of the left lower extremity. He had pronounced symmetric hypertrophy of all distal extremities, port-wine stains on his right neck, and varicosities on his left groin. The patient’s insulinlike growth factor 1 concentration was 92 ng/mL (reference range, 117-329 ng/mL), which did not support the diagnosis of acromegaly. Klippel-Trénaunay syndrome is a rare congenital condition that belongs to a family of disorders characterized by tissue overgrowth. Classically, the syndrome presents as a triad of vascular malformations, cutaneous hemangiomas, and bone or soft-tissue hypertrophy usually affecting one extremity. The tissue hypertrophy in this syndrome is typically localized and asymmetric. ConclusionThe recognition that the tissue hypertrophy in Klippel-Trénaunay syndrome can occur symmetrically will help avoid unnecessary and extensive workup for acromegaly. (Endocr Pract. 2008;14:109-111)

78 A Prospective Echocardiography Evaluation in Infants of Diabetic Mothers During the First Year of Life.

Top of pageAbstract Infant of diabetic mothers (IDM) may be in circulatory failure due to hyperthrophic cardiomyopathy (HCM). HCM is thought to be related to high insulin levels in fetus as a consequence of poor controlled maternal diabetes. Design: To analyze the relationship between morphological heart parameters and cardiac function assessed during echocardiography examination in IDM and cord blood insulin,and fructosamine concentration at birth as well as to follow the natural history of echocardiographic findings during the first year of life. Material and methods: A 44 IDM and 30 control subject were prospectively evaluated by echocardiography from birth to 12 months of life. The diabetic group covered 7 PGDM and 37 GDM, among them 18 mothers treated with diet only (G1) and 19 treated with insulin (G2). 8 (18,2 %) out of 44 IDM were born as LGA while in control group all but one neonates were AGA. In IDM venous blood samples were collected at delivery and analyzed for insulin and fructosamine level. Results: IVS diameter was significantly higher (p<0,01) in diabetic, especially G2 group, than in control newborns. In 17 out of 44 IDM enlargement of the IVS was noticed; in 15 out of 17 asymmetrical hypertrophy and in to other cases symmetrical hypertrophy was noticed. There was not found any significant correlation between cord blood insulin and fructosamine levels and occurrence of the features of HCM. The ratio of IVSd/LVPW in the control group was 1,03 +/- 0,14 while in IDM was significantly (p<0,001) higher- 1,32+/- 0,52. During 12 months observation resolution of HCM was confirmed. Conclusion: Infants born to mothers with diabetes first recognized during pregnancy and treated with insulin (G2) are at high risk for developing HCM. Resolution of HCM to normality was confirmed during 12 months echocardiography observation of IDM.

Patients with mild hypertensive heart disease and left ventricular outflow tract obstruction: treatment with angiotensin II antagonists.

Systolic anterior motion of the mitral leaflet (SAM) combined with obstruction at the left ventricular (LV) outflow tract is often observed on echocardiography in elderly hypertensive patients with severe concentric LV hypertrophy. We experienced, however, two patients with mild hypertension who had an ejection systolic murmur, SAM, and LV outflow tract obstruction with a pressure gradient of 46 and 45 mmHg, respectively, despite very mild symmetric hypertrophy of LV wall (12 mm) by echocardiography. Treatment with angiotensin II type 1 receptor blocker improved intraventricular obstruction and LV hypertrophy in both patients. Left ventricular outflow tract obstruction should be suspected in hypertensive patients with mild LV hypertrophy, particularly in those with an ejection systolic murmur. Angiotensin II antagonists could be considered as the treatment of choice for such patients.

Images in cardiovascular medicine. Myocardial fibrosis in glycogen storage disease type III.

A 32-year-old man was referred with exertional chest pain. He had been diagnosed with glycogen storage disease type IIIa (GSDIIIa) by liver biopsy in childhood. Cine cardiovascular magnetic resonance (CMR) demonstrated profound symmetrical hypertrophy (483 g) with impaired systolic function. Gadolinium-diethylene triamine penta-acetic acid (DTPA) rest perfusion demonstrated multifocal first pass mid-myocardial defects and late imaging demonstrated …

Cardiac muscle cell disorganization in apical hypertrophic cardiomyopathy: a cardiac biopsy study.

Apical hypertrophic cardiomyopathy has been divided into two entities: apical asymmetric septal hypertrophy (apical ASH) and apical symmetric hypertrophy (AH). The latter differs clinically from hypertrophic cardiomyopathy (HCM) with ASH, and it is unclear whether AH represents a distinct subtype of HCM. In the present study, the presence or absence and the extent of cardiac muscle cell disorganization, a histologic characteristic of HCM, were compared in patients with AH (n = 10) and ASH (n = 29) in whom cardiac biopsy specimens were obtained from the left ventricular apex and interventricular septum. Disorganization was graded as (1+) in only 1 patient in the AH group and (-) in the remaining 9. In contrast, in the ASH group disorganization was graded as (1+) in 15 patients, (2+) in 7, (3+) in 3, and (-) in only 4 (P < 0.0001). Thus, it was observed that in AH disorganization is virtually absent or at most limited to a very narrow area. It is concluded from a histological stand point as well that the type of apical hypertrophic cardiomyopathy showing apical symmetric hypertrophy differs from usual HCM.

Extra-adrenal pheochromocytoma associated with symmetrical hypertrophy and dynamic left ventricular outflow tract obstruction, improving promptly after tumor removal

Extra-adrenal pheochromocytoma associated with symmetrical hypertrophy and dynamic left ventricular outflow tract obstruction, improving promptly after tumor removal

Can serum carnitine levels distinguish hypertrophic cardiomyopathy from hypertensive hearts?

Although echocardiography is a useful diagnostic tool in hypertrophic cardiomyopathy (HCM), it is sometimes difficult to differentiate it from hypertensive heart disease (HHD): some patients with HCM show symmetrical hypertrophy, whereas patients with HHD sometimes show asymmetrical septal hypertrophy. We used a radioiodinated long-chain fatty acid tracer to visualize the altered myocardial fatty acid metabolism of HCM and HHD. Carnitine is the essential substance for the beta-oxidation of long-chain fatty acids. We recently reported that serum free carnitine levels in HCM were elevated and that they were significantly correlated with the severity of myocardial fatty acid metabolic disorder. Therefore, we investigated serum carnitine levels in patients with HCM and HHD, which can contribute to the differentiation of each other. We studied 56 patients with HCM and 20 patients with essential hypertension. Serum free carnitine levels were significantly higher in patients with HCM than those with HHD (HCM 52.5+/-9.5 nmol/mL, HHD 46.6+/-6.4 nmol/mL, P<0.01), but they showed no statistical difference between patients with HHD and normal subjects. Serum acylcarnitine levels were significantly lower in patients with HCM than those with HHD (HCM 10.1+/-4.0 nmol/mL, HHD 14.5+/-4.9 nmol/mL, P<0.0005), although they did not differ between patients with HHD and normal subjects. Scintigraphic analyses with a long-chain fatty acid analog revealed that myocardial tracer uptake was much reduced in patients with HCM compared with that in patients with HHD (quantitative analysis: HCM 2.11+/-0.12, HHD 2.22+/-0.17, P<0.05; semiquantitative analysis: HCM 13.6+/-6.3, HHD 2.0+/-1.5, P<0.0001). In conclusion, the differences in serum carnitine levels between HCM and HHD reflect altered myocardial fatty acid metabolic impairment, and the levels can help to distinguish these 2 diseases.

CMT1A ASSOCIATED WITH 17p11.2 DUPLICATION AND ASYMMETRICAL LEG MUSCLE HYPERTROPHY

Charcot‐Marie‐Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. It is characterized by distal muscle weakness and atrophy, first involving legs and particularly the peroneal muscles with the typical leg as “inverted champagne bottle”.The CMT1A is an autosomal dominant demyelinating sensorimotor neuropathy most often associated with a duplication of chromosome 17p11.2, a region that contains the gene for the peripheral protein 22 (PMP22). We describe two families with CMT1A, in which three of six members did not show the typical feature of leg atrophy. In fact, a patient belonging to the first family showed a bilateral symmetric hypertrophy of the calf. In the second family, a patient had an asymmetric bilateral calf hypertrophy, and his son showed a similar condition but the asymmetric hypertrophy involved the whole left limb. The other cardinal features in our family were distal weakness of lower limbs (5 of 6), pes cavus (3 of 6), and reduced or absent tendon reflexes (6 of 6).Motor and sensory conduction velocities showed, in all nerves explored, values at or below 38 m/sec. The computed tomography of lower limbs showed that leg enlargement was due to true muscle hypertrophy without concomitant increase of adipose or connective tissue.The pathophysiological mechanisms responsible for muscle enlargement are yet unclear. It is possible that one or more genetic factors, still unknown, may be linked genetically to the neuropathy in such pedigrees in which most or all affected members carry the trait.

Anomalies morphologiques des seins de l'adolescente et leur correction chirurgicale

Morphological anomalies of the breast in adolescent girls cause considerable psychological distress. Plastic and reconstructive surgery offer the possibility of improving such conditions. The aims of this work were to define and illustrate the various types of anomalies, clarify their distribution and present the repair methods that can be used and the results obtained. A consecutive series of 33 girls under the age of legal majority, admitted over a 1-year period for surgical modifications of breast shape, was studied. The basic anomalies were classified as mammary hypertrophy, hypotrophy, asymmetry, and abnormal shape, among which were Poland's syndrome, tuberous breasts, thelorism and pute ptosis. The basic techniques used were reduction, augmentation with placement of an implant and breast remodeling. Distribution of anomalies was as follows: symmetrical bilateral hypertrophy, 33%; asymmetric bilateral hypertrophy, 30%; unilateral hypertrophy, 6%; combined hyper- and hypotrophy, 3%; unilateral hypotrophy with abnormal shape, 9%; abnormal shape with normal size, 15% and bilateral hypotrophy, 0.3%. Mean hospital stay was 3 days and there were no serious postoperative complications. Bilateral hypertrophy was the most frequent disorder and the main drawback was residual scaring. Bilateral hypotrophy was rarely seen since only congenital absence of mammary glands is surgically treated before legal coming of age. The main problem of implants was formation and contraction of fibrous capsules around the implants in 5% of cases. Asymmetry and anomalies of shape were more difficult to treat because each breast requires a different procedure. At the present time, because of the cost/benefit ratio of such procedures, they are reimbursed by health services. Although the results are not perfect, the psychological impact of such treatment is highly positive, suggesting that the requests of adolescent girls for this type of surgery may be encouraged.

Hypertrophic cardiomyopathy in a common wombat ( Vombatus ursinus)

A case of hypertrophic cardiomyopathy (HCM) in a common wombat (Vombatus ursinus) is described. At necropsy, the heart showed symmetrical ventricular hypertrophy, a narrow left ventricular cavity, and dilatation of the left atrium. Microscopical findings in the ventricular myocardium included a strikingly disordered arrangement of cardiac muscle cells, in which adjacent cells were aligned perpendicularly and obliquely to each other, interstitial myocardial fibrosis, and arteriosclerosis of small intramural coronary arteries (fibromuscular hyperplasia). The changes, which were widespread in both ventricles, resembled those of HCM in man and other animals.

Cardiac and extracardiac complications in infants of diabetic mothers and their relation to parameters of carbohydrate metabolism.

Despite the current improvement of diabetes care in pregnancy, neonatal complications are still more frequent than in the general population. Even in fetuses of well controlled diabetic mothers, myocardial hypertrophy can be demonstrated although it is not related to maternal metabolic control. The objective of this study was to determine perinatal complications and the course of myocardial hypertrophy in newborns who had been prenatally monitored and to relate the findings to neonatal parameters of carbohydrate metabolism. Perinatal complications and echocardiographic evidence of myocardial hypertrophy were determined in 104 neonates of closely followed diabetic mothers. Cord blood was obtained for determination of insulin, C-peptide and glycosylated fetal haemoglobin (HbF1c). In cases of myocardial hypertrophy, the echocardiographic examinations were repeated until normalisation of the myocardial wall thickness. The most striking finding was myocardial hypertrophy in 25% of the 104 neonates, which predominantly involved the interventricular septum. This is in contrast to the prenatal symmetrical hypertrophy of the ventricular walls and may be explained by perinatal changings of ventricular geometry. There was no sign of outflow tract obstruction, and myocardial hypertrophy resolved within 6 months. Insulin and C-peptide were elevated in the majority of the newborns, whereas HbF1c was significantly decreased. Neither the maternal type of diabetes nor neonatal metabolic data were related to the somatic findings. Myocardial hypertrophy still occurs in infants of diabetic mothers despite their good metabolic control reflected by the decreased fraction of glycosylated fetal hemoglobin which points to low fetal blood sugar levels during the last intra-uterine weeks.

A Case of Cardiac Amyloidosis Presenting with Mid- to Late Diastolic Retrograde Flow from the Left Atrium to the Pulmonary Vein: Transesophageal Pulsed Doppler Echocardiographic Observations.

A patient of cardiac amyloidosis was found to have mid- to late diastolic retrograde flow from the left atrium (LA) to the pulmonary vein. Congo-red staining was positive for amyloid in the rectal tissue. M-mode and two-dimensional echocardiograms revealed symmetric hypertrophy and typical speckled pattern of the left ventricle (LV). The LV pressure curve showed a dip and plateau configuration during diastole, and end-diastolic pressure was 28 mmHg. In addition, the LV pressure was high at mid-diastole, surpassing the pulmonary capillary wedge pressure from mid- to late diastole. The transmitral flow velocity revealed "restrictive" pattern, and the pulmonary venous flow velocity showed retrograde flow from the LA to the pulmonary vein during mid-diastole and atrial systole. It is suggested that recording of the pulmonary venous flow velocity by transesophageal pulsed Doppler echocardiography is useful for understanding the mechanism of the development of pulmonary congestion or edema. (ECHOCARDIOGRAPHY, Volume 13, November 1996)

AAEM minimonograph #46: neurogenic muscle hypertrophy.

Muscle hypertrophy occurs uncommonly in several neurogenic disorders including neuropathies, radiculopathies, spinal muscular atrophy, and post-polio syndrome. Its pathogenesis varies in different circumstances. In the presence of generalized myokymia and neuromyotonia (Isaacs' syndrome), symmetrical hypertrophy appears to be the result of continuous spontaneous electrical stimulation of myofibers and, in some cases, results in type 1 myofiber preponderance. Focal hypertrophy occurring with radiculopathies and mononeuropathies was associated with complex repetitive discharges (CRDs) in approximately half the cases. CRDs may play a role in the pathogenesis of myofiber hypertrophy by continuous myofiber stimulation, but in some cases, with and without CRDs, myofiber hypertrophy may be related to mechanical events. Muscle enlargement seen in old polio appears to involve a significant degree of pseudohypertrophy, although some myofiber hypertrophy occurs. The symmetrical occurrence of hypertrophy in genetically determined disorders, such as spinal muscular atrophy, and hereditary motor and sensory neuropathy types 1 and 2 may have both a genetic and a mechanical basis in addition to pseudohypertrophy in some cases.