Überraschende Echobefunde als Erstdiagnose eines angeborenen Herzfehlers im Erwachsenenalter

Zusammenfassung

Angeborene Herzfehler (AHF) werden teilweise erst im Erwachsenenalter diagnostiziert, entweder weil sie erst dann klinisch auffällig werden oder bei vorausgegangenen Untersuchungen übersehen wurden. Im Rahmen einer routinemäßigen transthorakalen Echokardiografie (TTE) können in der kardiologischen Praxis oder Klinik angeborene kardiale Anomalien leicht fehlgedeutet werden, da der Fokus in der Erwachsenenkardiologie überwiegend bei erworbenen Herzfehlern, einer Kardiomyopathie, Klappenerkrankungen oder einer systolischen oder diastolischen Dysfunktion liegt. Demgegenüber spielt eine thematische Auseinandersetzung mit AHF häufig eine nur untergeordnete Rolle, die Erwartungshaltung hinsichtlich angeborener kardialer Anomalien ist eher gering und die Sinne für mögliche AHF oft nicht geschärft. Dieser Artikel soll dazu beitragen, die Wahrscheinlichkeit des Erkennens eines AHF im Rahmen der TTE-Untersuchung zu erhöhen.

Abstract

Congenital heart defects (AHF) are sometimes not diagnosed until adulthood; either because they only become clinically apparent later in life or were overlooked until then. During routine transthoracic echocardiography (TTE) examination in the cardiology practice or clinic, cardiac abnormalities can be suspected and patients should be referred for further diagnosis to a center with AHF expertise. This requires knowledge of the echocardiographic presentation of AHF. Since the focus of adult cardiology is predominantly on acquired cardiac disease such as dilated or ischemic cardiomyopathy, valve dysfunction, or ventricular dysfunction, dealing with AHF often plays a minor role. Therefore, the expectation regarding congenital cardiac anomalies is not particularly high and the eye for possible – in clinical routine more frequent or rare – cardiac defects often not sharpened. This article presents the most common AHF and their echocardiographic findings to help increase the likelihood of detecting an AHF by TTE in clinical practice.

Schlüsselwörter

Erwachsene mit angeborenen Herzfehlern - EMAH - Erstdiagnose - TTE - angeborene Herzfehler - transthorakale Echokardiografie

Key words

adult congenital heart disease - ACHD - GUCH - first diagnosis - transthoracic echocardiography - congenital heart disease

^* geteilte Erstautorenschaft

^# geteilte Letztautorenschaft

Publikationsverlauf

Artikel online veröffentlicht:
11. Oktober 2021

• Literatur

• 1 DeFaria Yeh D, King ME. Congenital heart disease in the adult: what should the adult cardiologist know?. Curr Cardiol Rep 2015; 17: 25
• 2 Baumgartner H, De Backer J, Babu-Narayan SV. et al. 2020 ESC Guidelines for the management of adult congenital heart disease. Eur Heart J 2021; 42: 563-645
• 3 Lindinger A, Schwedler G, Hense HW. Prevalence of congenital heart defects in newborns in Germany: Results of the first registration year of the PAN Study (July 2006 to June 2007). Klin Padiatr 2010; 222: 321-326
• 4 Neidenbach R, Achenbach S, Andonian C. et al. Systematic assessment of health care perception in adults with congenital heart disease in Germany. Cardiovasc Diagn Ther 2021; 11: 481-491
• 5 Deutsche Herzstiftung. 31. Deutscher Herzbericht 2019. Sektorenübergreifende Versorgungsanalyse zur Kardiologie, Herzchirurgie und Kinderherzmedizin in Deutschland. Frankfurt: Deutsche Herzstiftung; 2019
• 6 Seidel L, Nebel K, Achenbach S. et al. Facts about the General Medical Care of Adults with Congenital Heart Defects: Experience of a Tertiary Care Center. J Clin Med 2020; 9: 1943
• 7 Diller GP, Orwat S, Lammers AE. et al. Lack of specialist care is associated with increased morbidity and mortality in adult congenital heart disease: a population-based study. Eur Heart J 2021;
• 8 Tabib A, Miras A, Taniere P. et al. Undetected cardiac lesions cause unexpected sudden cardiac death during occasional sport activity. A report of 80 cases. Eur Heart J 1999; 20: 900-903
• 9 Gerardin J, Raskind-Hood C, Rodriguez 3rd FH. et al. Lost in the system? Transfer to adult congenital heart disease care-Challenges and solutions. Congenit Heart Dis 2019; 14: 541-548
• 10 Mitchell C, Rahko PS, Blauwet LA. et al. Guidelines for Performing a Comprehensive Transthoracic Echocardiographic Examination in Adults: Recommendations from the American Society of Echocardiography. J Am Soc Echocardiogr 2019; 32: 1-64
• 11 Li W, West C, McGhie J. et al. Consensus recommendations for echocardiography in adults with congenital heart defects from the International Society of Adult Congenital Heart Disease (ISACHD). Int J Cardiol 2018; 272: 77-83
• 12 Hagendorff A, Fehske W, Flachskampf FA. et al. Manual zur Indikation und Durchführung der Echokardiographie – Update 2020 der Deutschen Gesellschaft für Kardiologie. Kardiologe 2020; 14: 396-431
• 13 Doherty JU, Kort S, Mehran R. et al. ACC/AATS/AHA/ASE/ASNC/HRS/SCAI/SCCT/SCMR/STS2019 Appropriate Use Criteria for Multimodality Imaging in the Assessment of Cardiac Structure and Function in Nonvalvular Heart Disease: A Report of the American College of Cardiology Appropriate Use Criteria Task Force, American Association for Thoracic Surgery, American Heart Association, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, Society of Cardiovascular Computed Tomography, Society for Cardiovascular Magnetic Resonance, and the Society of Thoracic Surgeons. J Am Coll Cardiol 2019; 73: 488-516
• 14 Cohen MS, Eidem BW, Cetta F. et al. Multimodality Imaging Guidelines of Patients with Transposition of the Great Arteries: A Report from the American Society of Echocardiography Developed in Collaboration with the Society for Cardiovascular Magnetic Resonance and the Society of Cardiovascular Computed Tomography. J Am Soc Echocardiogr 2016; 29: 571-621
• 15 Anderson RH, Becker AE, Freedom RM. et al. Sequential segmental analysis of congenital heart disease. Pediatr Cardiol 1984; 5: 281-287
• 16 Bellsham-Revell H, Masani N. Educational series in congenital heart disease: The sequential segmental approach to assessment. Echo Res Pract 2019; 6: R1-R8
• 17 Huntgeburth M, Germund I, Geerdink LM. et al. Emerging clinical applications of strain imaging and three-dimensional echocardiography for the assessment of ventricular function in adult congenital heart disease. Cardiovasc Diagn Ther 2019; 9 (Suppl. 02) S326-S345
• 18 Di Salvo G, Miller O, Babu Narayan S. et al. Imaging the adult with congenital heart disease: a multimodality imaging approach-position paper from the EACVI. Eur Heart J Cardiovasc Imaging 2018; 19: 1077-1098
• 19 Fratz S, Janello C, Müller D. et al. The functional right ventricle and tricuspid regurgitation in Ebsteinʼs anomaly. Int J Cardiol 2013; 167: 258-261
• 20 Wang X, Wang W. Prevalence of Bicuspid Aortic Valve in Chinese Patients with Aortic Valve Disease: A Systematic Review. J Heart Valve Dis 2017; 26: 274-280
• 21 Kong WKF, Bax JJ, Michelena HI. et al. Sex differences in bicuspid aortic valve disease. Prog Cardiovasc Dis 2020; 63: 452-456
• 22 Bonow RO. Bicuspid aortic valves and dilated aortas: a critical review of the ACC/AHA practice guidelines recommendations. Am J Cardiol 2008; 102: 111-114
• 23 Guntheroth WG. A critical review of the American College of Cardiology/American Heart Association practice guidelines on bicuspid aortic valve with dilated ascending aorta. Am J Cardiol 2008; 102: 107-110
• 24 Baumgartner H, Falk V, Bax JJ. et al. 2017 ESC/EACTS Guidelines for the management of valvular heart disease. Eur Heart J 2017; 38: 2739-2791
• 25 Sievers HH, Schmidtke C. A classification system for the bicuspid aortic valve from 304 surgical specimens. J Thorac Cardiovasc Surg 2007; 133: 1226-1233
• 26 Donal E, Novaro GM, Deserrano D. et al. Planimetric assessment of anatomic valve area overestimates effective orifice area in bicuspid aortic stenosis. J Am Soc Echocardiogr 2005; 18: 1392-1398
• 27 Kim YY, Andrade L, Cook SC. Aortic Coarctation. Cardiol Clin 2020; 38: 337-351
• 28 Flachskampf FA, Wouters PF, Edvardsen T. et al. Recommendations for transoesophageal echocardiography: EACVI update 2014. Eur Heart J Cardiovasc Imaging 2014; 15: 353-365
• 29 Galie N, Humbert M, Vachiery JL. et al. 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT). Eur Heart J 2016; 37: 67-119
• 30 Kaemmerer H, Apitz C, Brockmeier K. et al. Pulmonary hypertension in adults with congenital heart disease: Updated recommendations from the Cologne Consensus Conference 2018. Int J Cardiol 2018; 272 S: 79-88
• 31 Engelfriet PM, Duffels MG, Moller T. et al. Pulmonary arterial hypertension in adults born with a heart septal defect: the Euro Heart Survey on adult congenital heart disease. Heart 2007; 93: 682-687
• 32 DʼAlto M, Romeo E, Argiento P. et al. Pulmonary arterial hypertension: the key role of echocardiography. Echocardiography 2015; 32 (Suppl. 01) S23-S37
• 33 DʼAlto M, Dimopoulos K, Budts W. et al. Multimodality imaging in congenital heart disease-related pulmonary arterial hypertension. Heart 2016; 102: 910-918
• 34 Huntgeburth M, Kaemmerer A, Meierhofer C. et al. Die Aorta bei angeborenen Herzfehlern – ein vernachlässigtes Organ. Herzmedizin 2021; 37: 42-48
• 35 Kaemmerer A-S, Freilinger S, Andonian C. et al. . Provision of medical health care for adults with congenital heart disease associated with aortic involvement. Cardiovasc Diagn Ther 2021; 11: 518-528