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Abstract Background Myopathy, lactic acidosis and inherited sideroblastic anemia (MLASA) are a group of rare intriguing disorders with wider pathophysiological implications. One of the causes of MLASA is the mutation in PUS1 gene that encodes for pseudouridine synthase. This PUS1 mutation results in MLASA in which anemia and myopathy predominate. Severe pulmonary arterial hypertension has not been previously reported in patients with PUS1 gene mutation. Case report A 17 year old girl with congenital sideroblastic anemia presented with worsening of breathlessness. Severe pulmonary artery hypertension was documented on investigations. A homozygous variant in exon 3 of gene PUS1,( chromosome 12:g.131932301 C > T c.430 C > T) was found on sanger sequencing. Conclusion We document severe pulmonary arterial hypertension in a patient of congenital sideroblastic anemia from PUS1 gene. We hypothesis that cross talk with TGFb pathways might occur in PUS1 mutation, and that might cause severe PAH. This observation might have therapeutic implications.

Context: Pulmonary hypertension (PH) is a condition characterized by an increase in pulmonary artery pressure, leading to morbidity and poor survival. In India, the high prevalence of certain diseases contributes to the burden of PH. To address this, this study provides epidemiological data and clinical characteristics of pulmonary artery hypertension. Materials and Methods: A cross-sectional study was conducted at a tertiary cardiac care hospital, recruiting 964 patients with severe pulmonary arterial hypertension (PAH). Patient data were obtained through a detailed history and physical examination, including 12-lead electrocardiogram, two-dimensional echocardiography, coronary angiography, right heart catheterization, and hematological and serological investigations. Results: The majority of patients (28.94%) were in the age group of 31–40 years, with a female preponderance in PAH disease. Idiopathic PAH (IPAH) was the most common type, accounting for 69.78% of all cases. The most common comorbid conditions were hypertension (48.55%) and Type-2 diabetes mellitus (44.81%). Dyspnea on exertion (98.34%) and edema of extremities (91.18%) were the most common symptoms. The mean survival rate was 50.98 months, with Type 1 PAH having the worst survival rate of 47.56 months. The statistical analysis showed a significant association between smoking and PAH. Conclusion: This study provides epidemiological data and clinical characteristics of PAH patients in India, emphasizing the need for early diagnosis, prompt management, and smoking cessation programs. The high prevalence of IPAH and female preponderance was also observed in this study. These findings can help in the development of targeted interventions and management strategies for PH patients in India.

Objective: Takayasu arteritis is a rare, chronic, inflammatory disease that primarily affects the aorta and its major branches. It mainly affects young females, and it can cause significant morbidity and mortality if untreated. The aim of this study was to evaluate the demographic profile, clinical manifestations, diagnostic features, angiographic findings in patients with aortoarteritis (Takayasu arteritis). Methods: We enrolled prospectively 116 patients with Takayasu arteritis who came to Cardiology OPD at tertiary cardiac care hospital. We looked for constitutional symptoms, heart-related symptoms, systemic hypertension, neurological symptoms and upper & lower limb fatigue and claudication. We evaluated our patients using different diagnostic criteria: clinical, ACR criteria and Indian Takayasu Activity score. We also studied the angiographic profile and lesion characteristics in these patients, based on peripheral and coronary angiograms. Results: We studied patients consisted of 14 male patients (12.1%) and 102 female patients (87.9%). Type V Takayasu arteritis was most common type (36.2%). Fatigue (60%) was most common cardinal symptom followed by myalgia (30%) and arthralgia (10%). About 43% of patients had neurological symptoms. Systemic hypertension (67%) was the most common manifestation of renal involvement. 110(95%) of the patients met clinical criteria and 105(91%) patients had American College of Rheumatology (ACR) score ≥3. Angiographic evidence of left renal artery stenosis was more (20%) than right renal artery stenosis (15%). bilateral renal artery involvement was found in 29% of patients. Conclusion: Type V Takayasu arteritis was most common type (36.2%) of total study population. Hypertension and subclavian artery involvement both were seen in 2/3rd of population. Angiographic evidence of right and left renal artery stenosis was seen in 15% and 20% respectively, while bilateral renal artery involvement was found in 29% of patients. Take home message: Takayasu arteritis rarely involves the coronary arteries. Angiographic evidence of right and left renal artery stenosis was observed in 15% and 20% of patients, respectively, with bilateral renal artery involvement found in 29% of patients.

Objective: Cancer treatment-related cardiac dysfunction (CTRCD) is a significant concern for patients undergoing chemotherapy. The aim of the present study was to study the accuracy and value of longitudinal strain in prediction of left ventricular dysfunction (LVD) in cancer patients undergoing cancer therapy. Methods: This was a prospective observational study conducted among 183 adult patients undergoing chemotherapy between 2018 and 2020. Patients with congenital or acquired valvular disease, prior myocardial infarction, coronary revascularization, or cardiac surgery were excluded. The patients were evaluated using a detailed history, clinical examination and echocardiography at baseline, 1 month, 3 months, and 6 months after chemotherapy. Speckle-tracking strain analysis was used to evaluate left ventricular (LV) global longitudinal strain (GLS), circumferential strain (GCS), and radial strain (GRS). LVD was defined as >15% decrease in GLS, GCS, or GRS from baseline to 6 months. Accuracy of longitudinal strain in prediction of LVD was studied using ROC analysis. Results: Of the 183 patients, 59% were male, and 54.1% were between 46-60 years of age. Breast cancer was the most common malignancy (10.9%). The most common chemotherapy regimen was doxorubicin + paclitaxel (9.9%). At baseline, the mean GLS, GCS, and GRS were -18.6 (1.03)%, -20.4 (1.11)%, and 39.9 (6.09)%, respectively. At the 6-month follow-up, 27 (14.8%) patients had LVD. The incidence of LVD was higher (51.48%) in patients who received doxorubicin-containing regimens compared to non-doxorubicin-containing regimens (P

Objective: “Subclavian coronary steal” refers to diversion of blood flow from coronary bed to subclavian artery. In patients receiving internal mammary grafts during coronary artery bypass grafting surgery (CABG), aorta and its proximal branches become part of coronary circulation. Atherosclerotic occlusion of subclavian artery can manifest as subclavian coronary steal syndrome and patients may present with angina, myocardial infarction and even sudden cardiac death. The objective of our case report is to identify and present important non-conventional causes of angina for better management of patients. Case presentation: A 50-year-old, hypertensive, male patient with a prior history of having undergone CABG, presented with CCS class III angina of one-month duration. He was found to have a completely occluded left subclavian artery from origin with retrograde flow of blood in left internal mammary artery from coronary to subclavian artery. Percutaneous transluminal angioplasty with stenting to subclavian artery was performed. Antegrade flow was established and coronary steal through left internal mammarian artery graft was thus abolished with subsequent resolution of symptoms. Conclusion: We have presented a case of refractory angina in post coronary artery bypass grafting patient who was eventually treated with percutaneous stent implantation to treat the subclavian stenosis; and had complete resolution of symptoms post intervention. Take home message: Patients undergoing CABG should be screened for a possible asymptomatic subclavian stenosis that may become symptomatic after CABG. Also, subclavian coronary steal syndrome should be suspected in patients presenting with refractory angina post CABG.

Objective: Aorto-iliac occlusive disease (AIOD) is a common atherosclerotic disease causing significant morbidity. Transatlantic intersociety consensus for the management of peripheral arterial disease (TASC II) recommends endovascular therapy (ET) for better management of patients with lesions type A and B. With the advent of endovascular therapy, type C and D lesions management is becoming more feasible with endovascular therapy than open surgery for aorto-iliac occlusive disease. We aimed to evaluate patients with AIOD and to describe short-term outcome of endovascular treatment for such lesions. Methods: Patients with aorto-iliac occlusive diseases who underwent endovascular therapy were enrolled in the study. Their demographic data and risk factors were recorded. Patients were followed at 3 and 6 months and their primary patency rate and symptom status were recorded. Results: We enrolled 100 patients with a mean age of 59.77 (8.75) years with the majority of patients being male. The most common presentation was claudication (59%) followed by rest pain (31%) and gangrene (20%). The majority of patients had Transatlantic inter-society consensus (TASC) II type A (44%) and type B (31%) lesions; 15% of patients had types C lesions and the remaining 10% patients had type D lesions. Access site hematoma and contrast-induced nephropathy were present in 7% and 5% of patients respectively. Stent patency rate was 97% and 95% at 3 and 6 months follow up respectively. Conclusion: Endovascular therapy in aorto-iliac occlusive disease is a safe, effective, and low-cost treatment option with a high patency rate and symptomatic improvement in the short-term.

Background: Various inotropic agents/vasopressors combinations are used in patients of cardiogenic shock. We performed this study to observe hemodynamic effects of various inotrope/vasopressor combinations in patients with NSTEMI cardiogenic shock (CS) at tertiary cardiac centre Methods and materials: Of 3832 NSTEMI, we studied 59 consecutive such patients with CS who hadn't undergone revascularization in the first 24 h in a prospective, open label, observational study. Group 1 comprised of background Dopamine with Noradrenaline titration(N = 38), Group 2 had background Dobutamine and Noradrenaline titration(N = 15) and Group 3 comprised of triple combination of Dopamine, Noradrenaline & Adrenaline(N = 6). Results: The mean change in hemodynamic parameters between these groups from baseline to 24 h showed no statistical difference. Cardiac output(CO), mean arterial pressure(MAP), central venous pressure(CVP) and cardiac power output(CPO) in group 2 were favorable at 6 and 24 h compared to baseline but mean change was insignificant as compared to others. In group 3, the increase in MAP was significant. IABP use did not change CO, CPO or SVR in any group except lower dosages of Dobutamine (49%) in IABP group. Lower in-hospital mortality in group 2 compared to others (P = 0.004) may be reflective of sicker patients in group 1 and 3. Conclusion: The mean changes in hemodynamic parameters were not significant between all groups. All regimes of inotropes when selected as per clinical indication in CS with ACS resulted in similar hemodynamic effects. The mortality difference may not truly be reflective of regimes rather reflect sicker patients in the higher mortality group.

Introduction: Intra-aortic balloon pump (IABP) is widely used as a mechanical support device. Current evidence after the IABP-SHOCK II trial is ambiguous. We evaluated the impact of IABP on hemodynamic parameters (Cardiac Output (CO), Cardiac Power Output (CPO) and Systemic Vascular Resistance (SVR)) measured at 6 and 24 hours in patients presenting with cardiogenic shock (CS) with Acute Coronary Syndrome (ACS) amongst Asian Indians. Methods: The efficacy of IABP was evaluated in patients presenting with CS in open-label, prospective, randomized (for randomization every alternate patient presented to an emergency was given IABP support), consecutive 60 patients in ACS with CS with group A (N=30) comprising of those with IABP and Group B without IABP (n=30). Results: Both the groups were matched for baseline characteristics. The revascularization rate was 85% and only the culprit vessel was addressed during the study. Total 9 (15%) patients were managed medically and did not undergo revascularization. The mean changes in Systemic vascular resistance (SVR), cardiac output (CO) and cardiac power output (CPO) after 24 hours in patients with and without IABP showed no statistical difference except for the lower mean dose use of dobutamine in Group A (with IABP) vs Group B (without IABP) (4.08 (1.41) vs. 7.92 (2.52) mcg/kg/min, p

Ventricular septal rupture (VSR) is an uncommon but potentially lethal complication of acute myocardial infarction (MI). Its prompt recognition is essential to permit timely institution of corrective measures. The present study was undertaken to assess the diagnostic accuracy of a novel and unique angiographic sign, the ‘winking coronary sign (WCS)’, for recognizing post-MI VSR. The WCS is defined as partial transient occlusion of the infarct-related culprit artery overlying the site of VSR during ventricular systole with near normal filling in the diastole. A total of 56 patients with post-MI VSR (mean age 60.9 ± 9.9 years, 75% male) were compared with 73 age- and sex-matched acute MI patients without VSR. The extent of coronary artery disease was not different between the two groups, but higher number of patients in the VSR group had thrombolysis in MI grade 3 flow (57.1% vs 34.5%, P 0.01). The WCS was observed in 67.9% of the patients with VSR but in none of the patients without VSR (p

Facial nerve palsy (FNP) is a common medical problem and can be unilateral or bilateral. Unilateral facial palsy has an incidence of 25 per 100,000 population and most of them are idiopathic. However, facial diplegia or bilateral facial nerve palsy (B-FNP) is rare with an incidence of just 1 per 5,000,000 population and only 20 percent cases are idiopathic. Facial diplegia is said to be simultaneous if the other side is affected within 30 days of involvement of first side. Guillain-Barre Syndrome (GBS) is a common cause of facial diplegia and almost half of these patients have facial nerve involvement during their illness. Facial Diplegia with Paresthesias (FDP) is a rare localized variant of GBS which is characterized by simultaneous facial diplegia, distal paresthesias and minimal or no motor weakness. We had a patient who presented with simultaneous weakness of bilateral facial nerve and paresthesias. A diagnosis of GBS was made after diligent clinical examination and relevant investigations. Patient responded to IVIG therapy and symptoms resolved within two weeks of therapy.

Benign Recurrent Intrahepatic Cholestasis (BRIC) is a rare genetic disorder characterized by recurrent episodes of cholestatic jaundice. The initial episode of jaundice generally occurs before second decade of life and can persist for several weeks to months before resolving spontaneously. It is a benign disease and even after repeated episodes of jaundice, fibrosis of liver cell does not occur. We had a young adult patient who was having recurrent episodes of cholestatic jaundice with intervening symptom free period for last 20 years. He had first episode of jaundice at the age of eight and since then had several similar episodes. Diagnosis was made by classical clinical presentation and histopathological findings. We intend to report this case due to rarity of this disease in India.

Chikungunya is a viral illness caused by an arbovirus which is transmitted by Aedes mosquito. Fever and polyarthralgia are hallmark of this viral illness. Viral infections are generally associated with leucopenia and bacterial infections with leukocytosis. Leukemoid Reaction (LR) is defined by reactive increase in leukocyte count of more than 50,000/cu mm with increase in mature leukocytes on peripheral blood. Leukocytosis is common in Chikungunya but leukemoid reaction has not been reported in medical literature. Our patient presented with high grade fever and symmetrical polyarthritis. Blood investigation showed Leukemoid reaction and after extensive work up a diagnosis of chikungunya was made.

Dengue outbreak is common in Indian subcontinent and causes significant morbidity and mortality. Year 2015 has witnessed yet another Dengue epidemic in northern India and the number of cases this year is maximum in a decade. Dengue infection is a viral disease and there are 4 different serotypes DENV1, DENV2, DENV3 and DENV4. This year DENV2 and DENV4 have been isolated from most of the patients. Thrombocytopenia is hallmark of dengue infection and generally recovers within ten days of onset of symptoms. We report a case of dengue haemorrhagic fever in which thrombocytopenia persisted for almost a month and improved after Intravenous immunoglobulin (IVIG) administration. This is the first case where IVIG has been successfully used for treating persisting thrombocytopenia after dengue infection.

Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are severe mucocutaneous disease with high mortality rate. It is characterised by severe necrosis and detachment of the epidermis. Drugs are the most common triggering agent for SJS/TEN. These are commonly reported with the use of aromatic antiepileptics, antiretrovirals, allopurinol, NSAID’S and sulfonamide antibiotics. Non antibiotic sulfonamides rarely cause SJS/TEN. Metolazone is a well known diuretic and is extensively used by clinicians. Although this drug is in market for last several decades, no case of SJS/TEN has been reported till date. We report a rare case of metolazone induced SJS/TEN overlap in a 55-year-old lady.