{
  "abstract": "Background Turner syndrome (TS) occurs approximately 1 in 2000–3000 live female births, 1–5 but the true prevalence is unknown because patients with a milder phenotype may remain undiagnosed or may be diagnosed later in life.6 7 It is important to plan device implantation ahead in these patients, keeping in view association of TS with persistent left superior vena cava (PLSVC) in 13% of cases.Case Presentation A lady in her late 60’s presented with a 2-day history of SOB and intermittent chest pain associated with palpitations and dizzy spells. She consumes 30–40 units of alcohol/week for a considerably longer time. In the emergency room, she was found to be hypotensive with ongoing chest pain. ECG showed broad complex regular tachycardia consistent with LBBB morphology re-entrant VT (BBRVT), so the patient underwent DC cardioversion. On examination, she had features suggestive of TS: short stature (152 cm), webbed neck and down-slanting palpebral fissures. Past medical history: Hypothyroidism, atrial fibrillation, hypertension, diverticulitis, hyperlipidaemia, pin-throat oesophagus requiring regular endoscopic dilatations & primary amenorrhea. Initial laboratory results revealed elevated troponin, deranged LFTs, AKI-III, Pro BNP 7503 and TSH 35.4. Chest X-ray revealed bilateral pleural effusions. ECHO showed non-dilated LV with borderline low systolic function, EF 51%. Dilated coronary sinus and both atria. During the stay, the patient had episodes of alternating right and left BBRVT, intermittent severe sinus brady with repolarisation abnormalities and LQT. Prolong hypotension led to ischemic liver and renal insults which improved with supportive care. After MDT discussion, the patient underwent CRT-D implantation, which was a challenging procedure due to difficulty in lead positioning in the presence of PLSVC. The patient was discharged home on amiodarone, bisoprolol and levothyroxine with advice regarding alcohol abstinence.Discussion Absence of an X chromosome results in TS syndrome. TS features range widely. Some of them are short stature, webbed neck, primary amenorrhea, and cardiovascular abnormalities. 23–50% of patients have congenital heart defects. 8 9 A range of ECG abnormalities such as T-wave changes, prolongation of QT interval and BBB have been documented.10 No significant data is available regarding the association of TS and BBRVT to date. In this case, BBRVT could be a cardiac association with TS or underlying alcohol-related cardiomyopathy. ECHO showed a dilated coronary sinus and predicted the presence of PLSVC. PLSVC is a venous abnormality with an incidence of 0.47% in patients undergoing CIED. Two variants are double SVC or a single left-sided SVC, which may occur in one third of PLSVC subjects.11 The presence of PLSVC, as in our patient, may hinder device implantation, especially when the placement of the left ventricular lead is concerned and warrants adequate pre-planning for such a procedure.References Bondy CA. Turner Syndrome Study Group. Care of girls and women with turner syndrome: a guideline of the turner syndrome study group. J Clin Endocrinol Metab. 2007 Jan;92(1):10–25. doi: 10.1210/jc.2006-1374. Epub 2006 Oct 17. https://pubmed.ncbi.nlm.nih.gov/17047017/ Cockwell A, MacKenzie M, Youings S, Jacobs P. A cytogenetic and molecular study of a series of 45,X fetuses and their parents. J Med Genet. 1991 Mar;28(3):151–5. doi: 10.1136/jmg.28.3.151. https://pubmed.ncbi.nlm.nih.gov/1675683/ Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991 May;87(1):81–3. doi: 10.1007/BF01213097. https://pubmed.ncbi.nlm.nih.gov/2037286/ Martin-Giacalone BA, Lin AE, Rasmussen SA, et al. Prevalence and descriptive epidemiology of turner syndrome in the United States, 2000–2017: a report from the national birth defects prevention network. Am J Med Genet A. 2023 May;191(5):1339–1349. doi: 10.1002/ajmg.a.63181. Epub 2023 Mar 15. https://pubmed.ncbi.nlm.nih.gov/36919524/ Gravholt CH, Andersen NH, Christin-Maitre S, et al; International Turner Syndrome Consensus Group; Backeljauw PF. Clinical practice guidelines for the care of girls and women with turner syndrome. Eur J Endocrinol. 2024 Jun 5;190(6):G53-G151. doi: 10.1093/ejendo/lvae050. https://pubmed.ncbi.nlm.nih.gov/38748847/ Gunther DF, Eugster E, Zagar AJ, Bryant CG, Davenport ML, Quigley CA. Ascertainment bias in turner syndrome: new insights from girls who were diagnosed incidentally in prenatal life. Pediatrics 2004;114(3):640–644. doi:10.1542/peds.2003-1122-L. https://pubmed.ncbi.nlm.nih.gov/15342833/ Freriks K, Timmermans J, Beerendonk CC, et al. Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with turner syndrome. J Clin Endocrinol Metab. 2011;96(9):E1517-E1526. doi:10.1210/jc.2011-0346. https://pubmed.ncbi.nlm.nih.gov/21752892/ Mortensen KH, Andersen NH, Gravholt CH. Cardiovascular phenotype in turner syndrome--integrating cardiology, genetics, and endocrinology. Endocr Rev. 2012;33(5):677–714. doi:10.1210/er.2011-1059. https://pubmed.ncbi.nlm.nih.gov/22707402/ Niaz T, Poterucha JT, Olson TM, et al. Characteristic morphologies of the bicuspid aortic valve in patients with genetic syndromes. J Am Soc Echocardiogr. 2018;31(2):194–200. doi:10.1016/j.echo.2017.10.008. https://pubmed.ncbi.nlm.nih.gov/29191731/ Bondy CA, Van PL, Bakalov VK, Sachdev V, Malone CA, Ho VB, Rosing DR. Prolongation of the cardiac QTc interval in turner syndrome. Medicine (Baltimore) 2006;85:75–81. doi: 10.1097/01.md.0000205629.16302.bc. https://pmc.ncbi.nlm.nih.gov/articles/PMC6237954/ Biffi M, Boriani G, Frabetti L, Bronzetti G, Branzi A. Left superior vena cava persistence in patients undergoing pacemaker or cardioverter-defibrillator implantation: a 10-year experience. Chest 2001;120:139. doi: 10.1378/chest.120.1.139. https://pubmed.ncbi.nlm.nih.gov/11451829/",
  "authors": [
    {
      "affiliations": [
        "Department of Cardiology, Walsall Healthcare NHS Trust"
      ],
      "name": "Syeda Asma Zahoor"
    },
    {
      "affiliations": [
        "Department of Cardiology, Walsall Healthcare NHS Trust"
      ],
      "name": "Loubna Faska"
    },
    {
      "affiliations": [
        "Department of Cardiology, Walsall Healthcare NHS Trust"
      ],
      "name": "Nadia Sunni"
    }
  ],
  "title": "1-046 A patient presenting with re-entrant bundle branch ventricular tachycardia was found to have turner phenotype and persistent left superior vena cava: a case report",
  "uid": "09c3ad82-0239-5645-94a0-d78d0b63e1a4"
}