Holt Oram Syndrome (HOS) falls in rare prevalence category with probability of 0.7 in 100,000 live births. It is a rare autosomal dominant multiple malformation syndrome characterized by abnormalities affecting hands, wrists, arms,congenital heart defects and/or conduction problems. Genetic mutations observed in TBX5 gene is attributed as the main cause of HOS. Our patient in his late 40s was diagnosed with Holt Oram Syndrome. He presented with typical conditions of congenital heart abnormalities (ASD) and upper limb malformations.
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVD) is regarded to be one of the highest common cause of death especially in athletes due to sudden cardiac arrest. Epidemiologically, 1 among 5000 populations has estimated prevalence of ARVD. ARVD clinical indications or symptoms before the age of 12 are difficult to diagnose and it is also rare to acquire ARVD symptoms after the age of 60. 34-year-old male patient with no-known co-morbid received at Emergency Department of PNS Shifa Hospital Karachi. This case report is a typical case of ARVD in stage 4 with bi ventricular involvement.
Objectives: The objective of the current study was to determine the frequency of anxiety and depression among patients diagnosed with acute coronary syndrome (ACS) at a tertiary care cardiac center in Pakistan. Methodology: This cross-sectional study was conducted at a tertiary care cardiac center in Pakistan from May to November 2019. We included patients of either gender, between 30 and 70 years of age, diagnosed with ACS, and presented within 72 hours of onset of symptoms. After the standard treatment of the condition, the Beck Depression Inventory Scale (BDI) and Beck Anxiety Inventory (BAI) were used to assess post-AMI depression and anxiety. The BDI ≥17 was categorized as depression and BAI ≥11 was taken as anxiety. Results: In the selected sample of 122 patients, the mean age was 58.7 ± 10.2 years and 88 (72.1%) patients were male. Diabetes mellitus was detected in 76 (62.3%) patients and 64 (52.5%) patients were smokers. The mean BDI score was 28.6 ± 6.5 and mean BAI score was 19.5 ± 5.1. Anxiety and depression were observed in 36 (29.5%) and 51 (41.8%) patients, respectively. Conclusion: Depression and anxiety are a common remnants of ACS, hence, in our day to day clinical practice, appropriate consideration should be given to the psychological wellbeing of patients in addition to the management of ACS.
Takotsubo Cardiomyopathy is a cardiac syndrome of rare type involving apical akinesis of the left ventricle. Symptoms of acute myocardial infarction, i.e. chest pain, S-T changes, and positive cardiac enzymes, are observed in patients with Takotsubo Cardiomyopathy. Cardiac angiography of Takotsubo Cardiomyopathy patients manifest left ventricular apical ballooning with no remarkable coronary artery stenosis. Mostly the cases are managed on the lines of treatment for Acute Coronary Syndrome. We present a case of Takotsubo Cardiomyopathy in a teenage girl from Karachi, Pakistan. The prevalence of Takotsubo Cardiomyopathy in Pakistan is yet to be mapped due to its rarity. Key Words: Takotsubo Cardiomyopathy, Rare Cardiac Syndrome, Teenage Girl, Karachi, Pakistan.
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