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Table of Contents
April-June 2012
Volume 3 | Issue 2
Page Nos. 61-182
Online since Thursday, April 26, 2012
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EDITORIAL
Preface to the
Journal of Cardiovascular Disease Research
, second issue 2012
p. 61
Yujie Zhu
DOI
:10.4103/0975-3583.95355
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COMMENTARY
Fatal thrombocytopenia associated with intracardiac mass
p. 65
Kan Chen
DOI
:10.4103/0975-3583.95356
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ORIGINAL ARTICLES
Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome
p. 67
Yuanfeng Gao, Cuilan Li, Wenling Liu, Robby Wu, Xiaoliang Qiu, Ruijuan Liang, Lei Li, Li Zhang, Dayi Hu
DOI
:10.4103/0975-3583.95357
Background:
Long QT syndrome (LQTS) is characterized by QT prolongation, syncope and sudden death. This study aims to explore the causes, clinical manifestations and therapeutic outcomes of Jervell and Lange-Nielsen syndrome (JLNS), a rare form of LQTS with congenital sensorineural deafness, in Chinese individuals.
Materials and
Methods:
Three JLNS kindreds from the Chinese National LQTS Registry were investigated. Mutational screening of
KCNQ1
and
KCNE1
genes was performed by polymerase chain reaction and direct DNA sequence analysis. LQTS phenotype and therapeutic outcomes were evaluated for all probands and family members.
Results:
We identified 7
KCNQ1
mutations. c.1032_1117dup (p.Ser373TrpfsX10) and c.1319delT (p.Val440AlafsX26) were novel, causing JLNS in a 16-year-old boy with a QTc (QT interval corrected for heart rate) of 620 ms and recurrent syncope. c.605-2A>G and c.815G>A (p.Gly272Asp) caused JLNS in a 12-year-old girl and her 5-year-old brother, showing QTc of 590 to 600 ms and recurrent syncope. The fourth JLNS case, a 46-year-old man carrying c.1032G>A (p.Ala344Alasp) and c.569G>A (p.Arg190Gln) and with QTc of 460 ms, has been syncope-free since age 30. His 16-year-old daughter carries novel missense mutation c.574C>T (p.Arg192Cys) and c.1032G>A(p.Ala344Alasp) and displayed a severe phenotype of Romano-Ward syndrome (RWS) characterized by a QTc of 530 ms and recurrent syncope with normal hearing. Both the father and daughter also carried c.253G>A (p.Asp85Asn; rs1805128), a rare single nucleotide polymorphism (SNP) on
KCNE1
. Bizarre T waves were seen in 3/4 JLNS patients. Symptoms were improved and T wave abnormalities became less abnormal after appropriate treatment.
Conclusion:
This study broadens the mutation and phenotype spectrums of JLNS. Compound heterozygous
KCNQ1
mutations can result in both JLNS and severe forms of RWS in Chinese individuals.
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Wall shear stress and local plaque development in stenosed carotid arteries of hypercholesterolemic minipigs
p. 76
Troels Thim, Mette Kallestrup Hagensen, Arne Hørlyck, Won Yong Kim, Anders K Niemann, Samuel Alberg Thrysøe, Ludovic Drouet, William P Paaske, Hans Erik Bøtker, Erling Falk
DOI
:10.4103/0975-3583.95358
Background:
Wall shear stress is thought to play a critical role in the local development of atherosclerotic plaque and to affect plaque vulnerability. However, current models and hypotheses do not fully explain the link between wall shear stress and local plaque development. We aimed to investigate the relation between wall shear stress and local plaque development in surgically induced common carotid artery stenoses of hypercholesterolemic minipigs.
Materials,
Methods and Results:
We created a surgically induced stenosis of the common carotid artery in 10 minipigs using a perivascular collar. We documented the flow and shear stress changes by ultrasound, magnetic resonance imaging, and computational fluid dynamics. Carotid plaques were documented by microscopy. Atherosclerotic lesions, in both pre-stenotic and post-stenotic segments, were associated with thrombus in the stenosed segment. In patent carotid arteries, atherosclerotic lesions were found in the post-stenotic segments only. Atherosclerotic lesions developed where low and oscillatory shear stress were present simultaneously, whereas low or oscillatory shear stress alone did not lead to lesion formation.
Conclusions:
Low and oscillatory shear stress in combination promoted plaque development, including plaques with necrotic cores that are the key and dangerous characteristic of vulnerable plaques.
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Tumor necrosis factor-alpha G-308 A polymorphism and risk of coronary heart disease and myocardial infarction: A case-control study and meta-analysis
p. 84
Hongxia Chu, Jun Yang, Shaohua Mi, Soumitra Sudip Bhuyan, Jun Li, Lin Zhong, Shaorong Liu, Zhigang Tao, Jianping Li, Hongying Chen
DOI
:10.4103/0975-3583.95359
Objectives:
The tumor necrosis factor-alpha (TNF-α) gene may play an important role in coronary heart disease (CHD) and myocardial infarction (MI) risk. Recently, controversial results regarding the association of the G-308 A (rs1800629)polymorphism of the TNF-α gene with CHD/MI have been reported. We herein examine a possible association between the G-308 A (rs1800629)polymorphism of the TNF-α gene and CHD/MI in a sample of the Chinese Han population.
Materials and Methods:
We determined the genotypes of TNF-α G-308 A (rs1800629) in 535 unrelated Chinese patients with CHD, 420 patients with MI, and 1020 coronary artery disease-free controls. Additionally, a meta-analysis of all previous studies on the TNF-α G-308 A polymorphism and the risk of CHD and MI was performed.
Results:
AA genotypes in the G-308 A (rs1800629)polymorphism of the TNF-α gene did not occur more frequently in CHD/MI patients than in controls; odds ratios (95% confidence intervals) were 1.743 (0.325 to 1.423) for CHD and 1.731 (0.442 to 1.526) for MI, after adjusting for conventional risk factors. Further stratification for age, gender, and other cardiovascular risk factors did not alter the prior negative findings. Pooled meta-analysis of 23 studies also found no statistically significant associations between the TNF-α polymorphism and CHD/MI risk in the genetic additive, dominant, and recessive models. Subgroup analyses showed no association between the TNF-α polymorphism and CHD/MI in Asian and Caucasian populations.
Conclusion:
Our study showed no association between the G-308 A (rs1800629) polymorphism of the TNF-α gene (presence of A allele) and CHD/MI in the Chinese Han population. There was no evidence of a difference in risk effects of rs1800629 between Caucasians and Asians.
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Risk factors of cardiovascular disease among children with chronic kidney disease in Gaza strip
p. 91
Rafat M Muhaisen, Fadel A Sharif, Maged M Yassin
DOI
:10.4103/0975-3583.95360
Background:
Chronic kidney disease (CKD) is increasingly recognized as a global public health problem. Cardiovascular disease (CVD) is a major cause of mortality in patients with mild-to-moderate CKD and end-stage renal disease. There is accumulating evidence that the increase in CVD burden is present in CKD patients prior to dialysis, due both to conventional risk factors and kidney-specific disease. Detection and initiation of treatment for CVD risk factors at early stages of CKD should be effective in reducing CVD events before as well as after the onset of kidney failure.
Materials and
Methods:
The study sample consisted of a total of 112 subjects aged ≤12 years: 60 CKD patients and 52 healthy control individuals. All subjects were investigated for a group of CVD risk factors such as: Hypertension, diabetes, dyslipidemia, physical inactivity, body mass index (BMI), family history of CVD, hypoalbuminemia, albuminuria, anemia, Ca x P product, and inflammation in terms of C-reactive protein (CRP).
Results:
Patients (40 males and 20 females) were categorized into four CKD stages (2, 3, 4, and 5) where, Stage 4 had the highest frequency, followed by Stages 3, 5 and 2. Evaluation of the patients indicated that they were shorter, had lower weight and had higher systolic and diastolic blood pressure as compared with control subjects. Frequency of physical inactivity among patients was two-fold higher than controls (50% vs. 25%). The patients showed significantly higher levels of cholesterol (163.6±39.8 vs. 141.8±24.2 mg/dL,
P
<0.0001), triglycerides (145.5±67.1 vs. 82.9±39.8 mg/dL,
P
<0.0001), low-density lipoprotein (92.6±31.9 vs. 72.5±19 mg/dL, P<</i>0.0001) and albumin/creatinine ratio (1792±3183 vs. 11.1±6.6 mg/g,
P
<0.0001). Moreover, the patients had lower levels of high-density lipoprotein (41.9±11.0 vs. 52.7±11.7 mg/dL,
P
<0.0001), hemoglobin (9.8±1.4 vs. 11.9±0.8 g/dL,
P
<0.0001) and albumin (4.6±0.6 vs. 4.8±0.2 g/dL, P=0.012). The CRP showed higher occurrence among patients (40% were positive for CRP). Calcium and phosphorus evaluation showed significantly lower calcium and higher phosphorus among patients. However, the difference in Ca X P product was not statistically significant.
Conclusions:
The study indicates that many of the CVD risk factors are associated with the different stages of CKD in children patients prior to dialysis, and that some of these factors are exacerbated as CKD progresses.
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Variability in cardiovascular functions and baroflex sensitivity following inhalation of petroleum hydrocarbons
p. 99
OM Azeez, RE Akhigbe, CN Anigbogu, SF Ige, WA Saka
DOI
:10.4103/0975-3583.95361
Objective:
Although petroleum products are useful chemical compounds which form an integral part of our modern technology, they have been reported to cause deleterious effect on health following their inhalation. Petroleum hydrocarbons-dependent health hazards and their mechanisms have been associated with the routes of administration. This study, therefore, aimed at the isolation and chemical characterization of various petroleum products, and also investigating in rat model of Sprague dawley strain, the variability in cardiovascular functions and possible mechanism following inhalation of petroleum products.
Materials and Methods:
Control rats were not exposed to any form of petroleum products, while the petrol-exposed, diesel-exposed, and kerosene-exposed were exposed to petrol, diesel, and kerosene respectively.
Results:
When compared with the controls, all exposed groups showed a significant (
P
<0.05) increase in the systolic blood pressure, diastolic blood pressure, mean arterial pressure (MAP), and heart rate (HR). In comparison with the control, exposure to petroleum products also led to significant (
P
<0.05) increase in baroreflex sensitivity in the diesel- and kerosene-exposed rats. Baroreflex sensitivity was comparable in the control and petrol-exposed rats (
P
>0.05). Body weight gain was significantly (
P
<0.05) reduced in petroleum products exposed rats.
Conclusion:
These results suggest that the variability of cardiovascular functions associated with inhalation of petroleum products is in attendant to baroreflex sensitivity and resetting of arterial pressure.
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Family history of type 2 diabetes and prevalence of metabolic syndrome in adult Asian Indians
p. 104
Mithun Das, Susil Pal, Arnab Ghosh
DOI
:10.4103/0975-3583.95362
Background:
Our objective was to test the association between familial risk of type 2 diabetes mellitus (T2DM) and the prevalence of metabolic syndrome (MS) in adult Asian Indians.
Materials and
Methods:
A total of 448 adult (>30 years) individuals (257 males and 191 females) participated in the study. Familial risk of T2DM was classified into three groups viz., 1=both parents affected; 2=parent and/or siblings affected and 3=none or no family history for T2DM. Anthropometric measures, blood pressures, fasting blood glucose and metabolic profiles were studied using standard techniques. MS was defined accordingly. The prevalence of MS phenotypes was estimated and compared among the three familial risk strata.
Results:
Individuals with a history of both parents affected from diabetes had significantly higher (
P
<0.001) body mass index (BMI), waist circumference (WC), waist-hip ratio (WHR), systolic blood pressure (SBP), diastolic blood pressure (DBP) and fasting blood glucose (FBG;
P
=0.035) than individuals having no family history of T2DM. Significant difference was also noticed between individuals with and without MS according to the family history of diabetes (
P
<0.001). Differences were evident between individuals who fulfilled all the MS criteria (
P=
0.001) and individuals with only one or two criteria (phenotypes) according to family history of T2DM.
Conclusion:
Family history of T2DM had significant effect on individuals with MS as compared to their counterparts (individuals having no family history of T2DM). It therefore seems reasonable to argue that family history of T2DM could be useful as a predictive tool for early diagnosis and prevention of MS in Asian Indian population.
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Liver cirrhosis prevents atrial fibrillation: A reality or just an illusion?
p. 109
Mahmood Zamirian, Tahmineh Sarmadi, Kamran Aghasadeghi, Mohammad Bagher Sharif Kazemi
DOI
:10.4103/0975-3583.95363
Objectives:
In cirrhotic patients, despite presence of significant metabolic abnormalities and enlarged left atria, we have seldom observed atrial fibrillation (AF) rhythm. The aim of this study was to evaluate the prevalence of AF among cirrhotic patients and comparing it with that reported in the general population.
Materials and
Methods:
Medical documents of 1302 adult cirrhotic patients, booked in the waiting list of liver transplantation, were evaluated retrospectively. Electrocardiograms were reviewed for the presence of AF rhythm, and echocardiographies were reviewed to obtain left atrial (LA) size.
Result:
Only two patients (0.15%) were detected to have AF rhythm, which was significantly lower than that reported in our general population, even after age and sex adjustment. Six hundred and sixty-eight patients (51%) had enlarged left atria (LA diameter more than 39mm); both AF patients belonged to this group.
Conclusion:
The result of this study suggests the protective effect of liver cirrhosis on development of atrial fibrillation. Further studies are needed to verify the possible mechanisms.
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High prevalence of cardiovascular diseases among other medically compromised conditions in dental patients: A retrospective study
p. 113
Sumit Bhateja
DOI
:10.4103/0975-3583.95364
Background:
Over the last few decades, oral health care has become a greater priority as people live longer with serious medical conditions and disabilities. As a result, they require more comprehensive dental treatment. We are now, more than ever, at a turning point in history where dental care, or more broadly oral health care, is an integral part of medical care. Therefore, a need was felt to study the prevalence of medically compromised patients seeking dental treatments.
Materials and Methods:
The present study was a retrospective study conducted by reviewing the patient records starting from 1
st
January 2009 to 31
st
December 2010 for the presence of medically compromised conditions. Demographic data of the patients was also collected.
Results:
The prevalence of medically compromised conditions in dental patients of our hospital in the present study was 1.02%. The Cardiovascular diseases accounted to be the most prevalent condition (57.87%) followed by Endocrine disorders (35.73%).
Conclusion:
Even though the prevalence of medically compromised conditions in dental patients is not high, dentists should bear in mind that some of the patients may harbor such conditions, which are contraindicated for certain dental procedures or medication or require special attention when treating these patients.
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The prevalence of hypertension and hypertension risk factors in a rural Indian community: A prospective door-to-door study
p. 117
Sushil K Bansal, Vartika Saxena, Sunil D Kandpal, William K Gray, Richard W Walker, Deepak Goel
DOI
:10.4103/0975-3583.95365
Background:
The aim of this study was to identify the prevalence and risk factors for hypertension in a rural community in north-east India.
Materials and Methods:
A door-to-door survey was conducted amongst all residents of a village in Uttarakhand province. All residents were interviewed and data were was relating to the demographics of the individuals, dietary habits, alcohol consumption, tobacco use, psychosocial stress, past medical history and drug history. Blood pressure (BP) and anthropometric data was recorded and blood samples taken.
Results:
We identified 1348 people living in the village. Assessment was carried out on all those aged 15 years and over (n=968, 71.8%). Hypertension, defined as BP ≥ 140/90 mmHg or cases of known hypertensive on medication, were present in 30.9% (95% CI 25.6 to 36.0) of males and 27.8% (95% CI 23.4 to 32.2) of females. Standardisation to the World Health Organization (WHO) world population gives an overall prevalence of 32.3% (95% confidence interval, CI 28.9 to 35.8). Increasing age and higher body mass index (BMI) were independent predictors of hypertension in both sexes, with psychosocial stress an additional independent predictor in males.
Conclusions:
Rates of hypertension in the rural community under study are similar to those seen in high-income countries and in urban India. With the exception of age, all the risk factors identified were potentially modifiable.
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Assessment of the effect of periodontal treatment in patients with coronary artery disease : A pilot survey
p. 124
Pavitra Rastogi, Rameshwari Singhal, Asmita Sethi, Avinash Agarwal, VK Singh, Rishi Sethi
DOI
:10.4103/0975-3583.95366
Background :
Periodontitis is a chronic inflammatory condition believed to cause a low but long lasting systemic inflammatory reaction which in turn contributes to the development of atherosclerosis. Recent data suggests that around 40% cases of coronary artery disease remain unaccounted despite the identification of the classical risk factors.
Objectives:
T0 o evaluate the efficacy of non surgical periodontal therapy on the levels of serum inflammatory markers in subjects with chronic periodontitis and known coronary artery disease.
Materials and Methods:
T0 wenty subjects with known coronary artery disease (CAD) were recruited from the Department of Cardiology, CSM Medical University, Lucknow, India, for this study. Periodontal disease was measured through the clinical parameters bleeding on probing (BOP) and probing depth (PD). All subjects received non surgical periodontal therapy that included oral hygiene instructions and meticulous scaling and root planing. Systemic levels of inflammatory markers such as high-sensitivity C reactive proteins (hsCRP), tumor necrosis factor-α (TNF-α), and white blood cell (WBC) counts were measured prior to and 1 month after periodontal therapy.
Results:
S0 ubjects experienced significant reductions in bleeding on probing (BOP) and probing depth (PD), indicating improvement in overall periodontal health. In all subjects, high-sensitivity C reactive proteins (hsCRP), and WBC counts were reduced significantly,; however, tumor necrosis factor-α (TNF-α) levels showed no statistically significant reduction.
Conclusion:
In this study, periodontal treatment resulted in a significant decrease in bleeding on probing (BOP) and probing depth (PD), and this treatment lowered the serum inflammatory markers (hsCRP and WBC counts) in patients with coronary artery disease. This may result in a decreased risk for coronary artery disease in the periodontally treated patients.
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Measurement of intima media thickness of carotid artery by B-mode ultrasound in healthy people of India and Bangladesh, and relation of age and sex with carotid artery intima media thickness: An observational study
p. 128
Jayanta Paul, Kishore Shaw, Somnath Dasgupta, Mrinal Kanti Ghosh
DOI
:10.4103/0975-3583.95367
Background:
Carotid artery intima media is a surrogate marker of atherosclerosis and related with ethnicity, age, sex, traditional and non-traditional risk factors. Black ethnicity is related to greater mean and maximum carotid artery intima media thickness when compared to South Asians. Our study was done to find out the mean carotid artery intima media thickness (CAIMT) of normal healthy people of India and Bangladesh, and the relationship of non-modifiable risk factors such as age and sex with CAIMT.
Materials and Methods:
In this observational study, CAIMT of 93 people were examined by B-mode ultrasonography. All subjects underwent a careful interview and clinical, radiological, biochemical examination. Data was analyzed by software statistical package for social sciences (SPSS) (17
th
version for window).
Results:
In our study, the mean CAIMT of healthy subjects including all age group was (754.94 ± 11.96 micron.). Mean CAIMT was higher in age group of 61-80 years (908.75 ± 39.02 micron) than age group of 20-40 years (713.62 ± 16.59 micron) and 41-60 years (745.55 ± 13.05 micron). CAIMT was positively correlated with age (
P
value <0.001) and sex (
P
value=0.001).
Conclusion:
An aggregated analysis based on this study in different age groups of healthy people may be useful for assessing carotid artery abnormalities as an aid to defining abnormalities and predicting risk of atherosclerosis in individual healthy people living in India and Bangladesh.
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CARDIOTHORACIC SURGERY
Ruptured right sinus of Valsalva into main pulmonary artery
p. 132
Prashant N Mohite, Manoj K Rohit, Shyam K Thingnam
DOI
:10.4103/0975-3583.95368
A young adult who presented with congestive heart failure was found to have ruptured aneurysm of right sinus of Valsalva. The aneurysm was opening into the main pulmonary artery, which was demonstrated well by transthoracic and transesophageal echocardiography and confirmed by cardiac catheterization. Aneurysm was repaired followed by aortic valve replacement.
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Acute superior vena cava obstruction due to tight pericardial closure following congenital defect repair
p. 135
Prashant N Mohite, Sandip Singh Rana, Jitendeep Singh, Kunal D Kotkar, GD Puri, SK Sodhi
DOI
:10.4103/0975-3583.95369
The obstruction of the superior vena cava (SVC) of acute onset nature following surgery is a rare and serious condition. The tight closure of the pericardium over the heart during surgical procedures may cause external compression on the SVC. Echocardiography and Computed tomography (CT) scan aids in the diagnosis. Cutting open the pericardial stitches relieves the condition.
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Inferior myocardial infarction secondary to aortic dissection associated with bicuspid aortic valve
p. 138
Jingjing Cai, Yu Cao, Hong Yuan, Kan Yang, Yuan-Shan Zhu
DOI
:10.4103/0975-3583.95370
Aortic dissection (AD) is a life-threatening condition and may present with symptoms which mimic myocardial infarction, leading to misdiagnosis and inappropriate use of anticoagulant and thrombolytic therapy. A 40-year-old woman with no prior history presented in our emergency department with sudden chest pain. Electrocardiography (ECG) showed a ST-segment elevation in leads II, III and avF, suggesting an acute inferior myocardial infarction. The patient was given anticoagulation and antiplatelet treatment. Coronary angiography, transthoracic echocardiography and computed tomography were performed. The patient was diagnosed with DeBakey I aortic dissection extending from ascending aorta to iliac artery, and associated with bicuspid aortic valve.Surgical treatments with a replacement of the ascending aorta, aortic valve replacement and coronary artery bypass grafting were successfully performed. Early imaging examination, if possible, might assist the diagnosis and guide the management of this disease. The condition of myocardial infarction secondary to aortic dissection is discussed.
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A tetrad of bicuspid aortic valve association: A single-stage repair
p. 143
Ramachandra Barik, AN Patnaik, Ramesh C Mishra, N Rama Kumari, AS Gulati
DOI
:10.4103/0975-3583.95371
We report a 27 years old male who presented with a combination of both congenital and acquired cardiac defects. This syndrome complex includes congenital bicuspid aortic valve, Seller's grade II aortic regurgitation, juxta- subclavian coarctation, stenosis of ostium of left subclavian artery and ruptured sinus of Valsalva aneurysm without any evidence of infective endocarditis. This type of constellation is extremely rare. Neither coarctation of aorta with left subclavian artery stenosis nor the rupture of sinus Valsalva had a favorable pathology for percutaneus intervention. Taking account into morbidity associated with repeated surgery and anesthesia patient underwent a single stage surgical repair of both the defects by two surgical incisions. The approaches include median sternotomy for rupture of sinus of Valsalva and lateral thoracotomy for coarctation with left subclavian artery stenosis. The surgery was uneventful. After three months follow up echocardiography showed mild residual gradient across the repaired coarctation segment, mild aortic regurgitation and no residual left to right shunt. This patient is under follow up. This is an extremely rare case of single stage successful repair of coarctation and rupture of sinus of Valsalva associated with congenital bicuspid aortic valve.
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CLINICAL CASE REPORT BASED STUDY
Fatal thrombocytopenia: A rare case with possible explanation
p. 147
Ramachandra Barik, AN Patnaik, AS Gulati
DOI
:10.4103/0975-3583.95372
A 22 year old male presented with breathlessness on exertion, ecchymosis, jaundice and features of worsening right heart failure for the last fifteen days. On physical examination, he had a mid diastolic murmur in the tricuspid area and an ejection systolic murmur in the pulmonary area. Bone marrow histopathology report showed an increased in megakaryocytes count. Routine investigations reports were normal. Echocardiography and computerized tomography (CT) revealed a single mobile large intra cardiac mass originating from the right atrium and causing dynamic obstruction of the right ventricular inflow and outflow tract. Associated fatal thrombocytopenia did not respond to intravenous steroids or platelet transfusion. Patient could not be operated because of very low platelet count, and died during hospital stay before excision biopsy could be done. Pathological autopsy was not done. This is a rare case, as the fatal thrombocytopenia observed here was the result of mechanical effects like frictional and shear force, which can be attributed to the physical presence of a large intra cardiac mass resulting in obstruction to flow.
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Molecular diagnosis of generalized arterial calcification of infancy (GACI)
p. 150
Iravathy Goud Kalal, Dayakar Seetha, Anuradha Panda, Yvonne Nitschke, Frank Rutsch
DOI
:10.4103/0975-3583.95373
Generalized arterial calcification of infancy (GACI) is a life-threatening disorder in young infants. Cardiovascular symptoms are usually apparent within the first month of life. The symptoms are caused by calcification of large and medium-sized arteries, including the aorta, coronary arteries, and renal arteries. Most of the patients die by 6 months of age because of heart failure. Recently, homozygous or compound heterozygous mutations for the ectonucleotide pyrophosphatase/phosphodiesterase 1 (
ENPP1
) gene were reported as causative for the disorder. ENPP1 regulates extracellular inorganic pyrophosphate (PP
i
), a major inhibitor of extracellular matrix calcification. A newborn was diagnosed with GACI. The infant died at the age of 7 weeks of cardiac failure and the parents were referred to Molecular Biology and Cytogenetic lab for further workup. Cytogenetics analysis was performed on the parents, which showed normal karyotypes and mutational analysis for the ectonucleotide pyrophosphatase/phosphodiesterase 1 (
ENPP1
) gene was also performed. The mutational analysis showed that both father and mother of the deceased infant were heterozygous carriers of the mutation c.749C>T (p.P250L) in exon 7 of
ENPP1
and it was likely, that the deceased child carried the same mutation homozygous on both alleles and died of GACI resulting from this ENPP1 mutation. The couple was counseled and monitored for the second pregnancy. Amniocentesis was performed at 15 weeks of gestation for mutational analysis of the same gene in the second pregnancy. The analysis was negative for the parental mutations. One month after the birth of a healthy infant, peripheral blood was collected from the baby and sent for reconfirmation. The results again were negative for the mutation and the baby was on 6 months follow up and no major symptoms were seen. The parents of the child benefited enormously by learning about the disease much in advance and also its risk of recurrence. The main aim of this study is to emphasize on two aspects: (i) the importance of modern molecular techniques in diagnosis such a syndrome and (2) the difficulties faced by the physician to provide appropriate diagnosis and the adequate genetic counseling to the family without molecular facilities.
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Device closure of post-myocardial infarction ventricular septal defect three weeks after coronary angioplasty
p. 155
AN Patnaik, Ramachandra Barik, N Rama Kumari, AS Gulati
DOI
:10.4103/0975-3583.95374
Percutaneus device closure appears to be safe and effective in patients treated for a residual shunt after initial surgical closure, as well as after two to three weeks of index myocardial infarction. The index case presented with a ventricular septal defect on second of acute myocardial infarction thrombolysed with streptokinase. The general condition of the patient was fairly stable. Cardiac catheterization and coronary angiography showed significant left to right shunt and there was 90 % proximal stenosis of left anterior descending coronary artery. Other coronary arteries were normal. Angioplasty and stenting to the coronary artery lesion was done using drug eluting stent (DES) with very good angiographic result. Patient was discharged after four days in stable condtion. After 3 weeks his ventricular septal defect was closed percutaneusly using cardio -O-fix device with tiny residual shunt. The procedure was uneventful and of brief duration. He was discharged after 5 days of the post procedure in very stable condition with minimal residual shunt. A staged procedure is a better option if the condition of the patient allows strengthening ventricular septal defect border.
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Pheochromocytoma with inferior vena cava thrombosis: An unusual association
p. 160
Sunil K Kota, Siva K Kota, Sruti Jammula, Lalit K Meher, Kirtikumar D Modi
DOI
:10.4103/0975-3583.95375
Pheochromocytomas have been described in association with vascular abnormalities like renal artery stenosis. A 48-year-old man was admitted to our hospital with the complaints of headache, sweating, anxiety, dizziness, nausea, vomiting and hypertension. For last several days, he was having a dull aching abdominal pain. Abdominal computed tomography (CT) revealed the presence of a left adrenal pheochromocytoma. An inferior vena cava (IVC) venogram via the right jugular vein demonstrated occlusion of the IVC inferior to the right atrium. Surgical removal of pheochromocytoma was done, followed by anticoagulant treatment for IVC thrombosis, initially with subcutaneous low molecular weight heparin, and then with oral warfarin, resulting in restoration of patency. To the best of our knowledge, the occurrence of pheochromocytoma in IVC thrombosis has not been reported so far from India. Possible mechanisms of such an involvement are discussed.
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Chest pain with ST-T changes on electrocardiogram and localized stenosis on coronary angiography could be a coronary vasospasm
p. 165
Bharat Jagiasi, Prashant Nasa, Debabrata Dash
DOI
:10.4103/0975-3583.95376
Coronary vasospasm is characterized by chest pain at rest with ST-T changes on electro cardiogram and coronary angiography showing virtually normal coronaries. The definitive diagnosis requires the stimulation of coronary vasospasm using provocative agents, which can be life threatening. We present a case where localized stenosis of proximal left anterior descending artery was observed on the coronary angiography, which disappeared on subsequent views, and hence, coronary stenting was deferred and patient responded well to medical management alone.
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ST segment elevation myocardial infarction as a presenting feature of thrombotic thrombocytopenic purpura
p. 167
Auras R Atreya, Sonali Arora, Senthil K Sivalingam, Gregory R Giugliano
DOI
:10.4103/0975-3583.95377
Myocardial infarction with ST segment elevation (STE) on electrocardiography (ECG) is a common presentation in emergency rooms across the world. Myocardial injury and necrosis are infrequently the initial presentation in patients with thrombotic thrombocytopenic purpura (TTP). A 48-year-old woman presented with STE myocardial infarction from outside hospital for primary percutaneous coronary intervention. However, her clinical picture was not consistent. Rapid evaluation revealed symptoms associated with microangiopathic hemolytic anemia, thrombocytopenia, acute kidney injury with waxing and waning mental status. A diagnosis of TTP was made with low ADAMST-13 activity. Plasmapheresis was initiated along with intravenous steroid therapy. The patient had a full recovery and went home after full recovery of left ventricular ejection fraction and normal myocardial perfusion studies. Rapid evaluation is needed to identify infrequent causes of STE myocardial infarction. As swift protocols are activated in the emergency room and catheterization laboratories to ensure quality control, it is equally important to integrate all aspects of the patient's clinical and objective data to detect unusual disease entities.
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Coexistence of Cor triatriatum sinistrum and a prominent Eustachian valve mimicking a Cor triatriatum dextrum
p. 170
AT Oyedeji, AA Akintunde, EA Ajayi, PO Akinwusi
DOI
:10.4103/0975-3583.95378
Cor triatriatum is among the rarest of all congenital cardiac abnormalities accounting for 0.1-0.4% of all congenital heart disease. Its coexistence with a very prominent Eustachian valve which mimics a Cor triatriatum dextrum is an exceptionally rare finding in an asymptomatic adult. We report the case of a 44 year old male who presented to our department on observing a pulse rate of 44 beats per minute during a home blood pressure check with his digital sphygmomanometer. Clinical examinationwas however, unremarkable and resting electrocardiography showed sinus rhythm with atrial premature complexes. The diagnosis was made on a two dimensional transthoracic echocardiography. Isolated atrial premature complexes and bradycardia may be a clinical presentation of Cor triatriatum in adult population. Although extremely rare, its coexistence with a prominent Eustachian valve may remain asymptomatic into adult life.
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Cardiorenal syndrome: Resistant to diuretics, sensitive to ultraflitration
p. 173
Swati C Aundhakar, Sanket K Mahajan, Makarand B Mane, Akshay N Lakhotia, Vikrant V Mahajani
DOI
:10.4103/0975-3583.95379
Cardiac and renal diseases are becoming increasingly common today, and are seen to frequently coexist, thus causing a significant increase in the mortality rate, morbidity, complexity of treatment and cost of care. Syndromes describing the interaction between heart and kidney have been defined and classified; however, never as a result of a consensus process. Though the incidence of cardiorenal syndrome is increasing, the associated pathophysiology and effective management are still not well understood. For many years, diuretics and ultrafiltration, have been the mainstay of treatment for cardiorenal syndrome, although a significant proportion of patients develop resistance to diuretics, and even deteriorate while on diuretics. Here, we will discuss one such patient who failed to respond to the optimum doses of diuretics; however, his blood urea and serum creatinine touched the baseline levels post-ultrafiltration.
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Atherosclerosis and myocardial bridging: Not a benign combination. An autopsy case report
p. 176
MJ Thej, R Kalyani, J Kiran
DOI
:10.4103/0975-3583.95380
Myocardial bridging is a congenital coronary anomaly with a variety of clinical manifestations. Traditionally, myocardial bridging has been considered a benign condition, but some cases of myocardial ischemia, infarction and sudden cardiac death due to myocardial bridging have been reported. Various studies have suggested that in their intramyocardial segments, these vessels are protected from obstructive atherosclerosis, with atherosclerosis being present in the proximal part of the artery. We report a case in a 45-year-old male who had a 2.5-cm long myocardial bridging over the left anterior descending artery, with obstructive atherosclerosis being present in the proximal as well as the intramyocardial part (part of the artery below the myocardial bridge). Atherosclerosis occurring in the intramyocardial segment is a rare occurrence, and combined with systolic narrowing by the myocardial bridge can lead to ischemia of the cardiac musculature.
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Lutembacher's syndrome
p. 179
Sandhya S Kulkarni, Amit K Sakaria, Sanket K Mahajan, Kuldeep B Shah
DOI
:10.4103/0975-3583.95381
The definition of Lutembacher's syndrome has undergone many changes. It refers to combination of congenital Atrial Septal Defect with acquired mitral stenosis. Lutembacher's syndrome is a very rare disease and in the past, it has been either overdiagnosed or misdiagnosed. Here, we will discuss a case of a pregnant lady who developed breathlessness during her third trimester of pregnancy and on detailed examination and investigation, she was found to be having Lutembacher's syndrome.
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© Journal of Cardiovascular Disease Research | Published by Medknow
Online since 20
th
January, 2010