md-medicaldata

Authors

 

Borislav Dolamić¹, Ana Aladin Dolamić², Maja Stefanović³, Anastazija Stojšić-Milosavljević³, Tanja Popov³, Oto Ađić<sup>4

1</sup>Vojna bolnica, Novi Sad
²Institut za zdrastvenu zaštitu dece i omladine Vojvodine, Novi Sad
³Institut za kardiovaskularne bolesti Vojvodine, Sremska Kamenica
⁴Institut za onkologiju Vojvodine, Sremska Kamenica

 

UDK: 616.12-008.46-07

The paper was received / Rad primljen: 01.03.2023

Accepted / Rad prihvaćen: 21.03.2023.

 

Correspondence to:

Dr Borislav Dolamić
Vojna bolnica Novi Sad
Trg Vladike Nikolaja 5, Petrovaradin,
21000 Novi Sad
e-mail: boradolamic@yahoo.com

 

 

Sažetak

 

 

Uvod: Ahondroplazija je nasledna autozomno dominanta bolest koja se ispoljava odmah po rođenju. Predstavlja najčeši uzrok patuljastog rasta kod ljudi. Karakteriše se kratkim udovima, normalnim trupom i povećanim obimom glave. Srčana insuficijenicija je klinički sindrom koji karakterišu tipični simptomi i znaci nastali kao posledica strukturnih i/ili funkcionalnih abnormalnosti srca koji uzrokuju smanjen srčani udarni volumen i/ili povišen intrakardijalni pritisak punjenja u mirovanju ili tokom napora. Diretkna veza između ova dva patološka stanja do sada nije direktno potvrđena.  Prikaz  slučaja:  Muškarac starosti 25 godina javlja se internisti u Domu zdravlja zbog ubrzanog srčanog rada, bez drugih simptoma. Do tada dobrog opšteg stanja, aktivni sportista. Telesna visina 141 cm. Epidemiološka anketa na COVID 19 negativna. Pri pregledu kardijalno kompenzovan, afebrilan, arterijski pritisak 130/80mmHg, osnovne laboratorijske analize u referentnom opsegu. Ehokardiografski leva komora (LV) povećanih endokavitalnih dimenzija, dijametar LV u dijastoli (LVIDd) 6,04 cm, dijametar LV u sistoli (LVIDs) 5,2 cm, globalno hipokontraktilna, niske istisne frakcije LV(EF LV), oko 22% sa znacima dijastolne disfunkcije. Ordinarana terapija: ACE inhibitor, beta blokator, diuretik Henlejeve petlje, Eplerenon, Ivabradin i Trimetazidin. Na sledećem pregledu posle 6 dana dobrog opšteg stanja, normotenzivan, kardijalno kompenzovan, normokardan, hormoni štitaste žlezde u granicama referentnih vrednosti, isključen COVID 19. Na 24h  analizi elektrokardiograma (Holter EKGa) opisan je sinusni ritam, sa čestim ventrikularnim ekstrasistolama (VES), pretežno pojedinačnim, retko u formi tripleta, polimorfnim, jednom registrovan fenomen R/T. Upućen na ekspertni pregled kardiologu u tercijalnu ustanovu gde je potvrđen ehokardiografski nalaz. Urađena je MSCT koronarografija koja je bila uredna. Posle tri meseca ritmolog indikuje magnetnu rezonancu (MR) srca uz dalju evaluaciju potrebe ugradnje implantabilnog kardiodefibrilatora. Pet meseci posle prve prezentacije internisti urađena MR srca. Opisane lako uvećane srčane šupljine uz poboljšanje EF LV na 41 %. Kontrolnim ehokardiografskim pregledom LVIDd 5,6 cm, EF LV je isto procenjena 41 %,  bez vidljivih fokalnih zona alternacije signala unutar miokarda.  Zaključak:  Iako do sada nije utvrđena etiološka dijagnoza  navedene dilatativne srčane slabosti, rano prepoznavanje značaja same patologije uz adekvatan multidisciplinarni pristup lečenja i dijagnostike između primarne i tercijalne zdravstvene zaštite u doba pandemije COVID 19 je moguć, zahteva  sveobuhvatni pristup i bržu dijagnostiku, a sve u cilju najadekvatnijeg lečenja.

 

Ključne reči:

Ahondroplazija, srčana slabost, poremećaji ritma, pandemija Covid-19, brza dijagnoza.

 

 

 

Abstract

 

Introduction: Achondroplasia is a hereditary autosomal dominant disease that manifests immediately after birth. It is the most common cause of dwarfism in humans. It is characterized by short limbs, a normal body and an increased head circumference. Heart failure is a clinical syndrome characterized by typical symptoms and signs resulting from structural and/or functional abnormalities of the heart that cause reduced cardiac output and/or increased intracardiac filling pressure at rest or during exertion. A direct connection between these two pathological conditions has not been directly confirmed so far.  Case report: A 25-year-old man presents to the internist at the Health Center due to rapid heart rate, without other symptoms. Until then, in good general condition, active athlete. Body height 141 cm. Epidemiological survey on COVID 19 negative. During the examination, cardiac compensated, afebrile, arterial pressure 130/80mmHg, basic laboratory analyzes in the reference range. Echocardiographic left ventricle (LV) with increased endocavital dimensions, LV diameter in diastole (LVIDd) 6.04 cm, LV diameter in systole (LVIDs) 5.2 cm, globally hypocontractile, low LV ejection fraction (EF LV), about 22% with signs of diastolic dysfunction. Prescribed therapy: ACE inhibitor, beta blocker, Henle loop diuretic, Eplerenone, Ivabradine and Trimetazidine. At the next check-up after 6 days of good general condition, normotensive, cardiac compensated, normocardine, thyroid hormones within the reference range, COVID 19 ruled out. A 24-hour electrocardiogram (Holter ECG) analysis revealed a sinus rhythm, with frequent ventricular extrasystoles (VES), predominantly single, rarely in the form of triplets, polymorphic, once registered R/T phenomenon. He was referred for an expert examination by a cardiologist at a tertiary institution, where the echocardiographic findings were confirmed. An MSCT coronary angiography was performed, which was normal. After three months, the rhythmologist indicates a magnetic resonance (MR) of the heart with further evaluation of the need for implantation of an implantable cardiodefibrillator. Five months after the first presentation to the internist, an MRI of the heart was performed. Described mildly enlarged cardiac cavities with an improvement in LV EF to 41%. By control echocardiographic examination LVIDd 5.6 cm, LV EF was also estimated at 41%, without visible focal zones of signal alternation within the myocardium. Conclusion: Although the etiological diagnosis of the aforementioned dilatative heart failure has not yet been established, early recognition of the importance of the pathology itself with an adequate multidisciplinary approach to treatment and diagnostics between primary and tertiary health care in the era of the COVID 19 pandemic is possible, it requires a comprehensive approach and faster diagnostics, and all in with the goal of the most adequate treatment.

 

Key words:

Achondroplasia, heart failure, rhythm disorders, Covid-19 pandemic, rapid diagnosis.

 

 

 

 

References:

1. 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure ESC Clinical Practice Guidelines. https://www.escardio.org/Guidelines/Clinical-Practice-Guidelines/Acute-and-Chronic-Heart-Failure (18-06-2023)
2. Fredwall SO, Linge J, Leinhard OD, Kjønigsen L, Eggesbø HB, Weedon-Fekjær H, Lidal IB, Månum G, Savarirayan R, Tonstad S. Cardiovascular risk factors and body composition in adults with achondroplasia. Genet Med. 2021;23(4):732-739.//doi.org/10.1038/s41436-020-01024-6
3. Fafilek B, Bosakova M, Krejci P. Expanding horizons of achondroplasia treatment: current options and future developments. Osteoarthritis Cartilage. 2022;30(4):535-544. doi: 10.1016/j.joca.2021.11.017.
4. Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT. Mortality in achondroplasia study: a 42-year follow-up. Am J Med Genet A. 2007 Nov 1;143A(21):2502-11. doi: 10.1002/ajmg.a.31919.
5. Wamala SP, Mittleman MA, Horsten M, et al. Short stature and prognosis of coronary heart disease in women. J Intern Med 1999;245:55.
6. Hecht JT, Francomano CA, Horton WA, Annegers JF. 1987. Mortality in achondroplasia. Am J Hum Genet 41:454–464.
7. Srinivas SK, Ramalingam R, Manjunath CN. A rare case of percutaneous coronary intervention in achondroplasia. J Invasive Cardiol. 2013;25(6):E136-8.
   

PDF: 08-Dolamić B. et al MD-Medical Data 2023;15(1-2) 039-042.pdf