Congenital vitia

Leonardo Da Vinci made the first drawing of a cadaver with an atrial septal defect. Carl Freiherr von Rokitansky (1804 - 1878) gave the first complete pathological anatomical description. However, it took until the early 1940s before the atrial septal defect could be diagnosed (Schmaltz 1998).

Nils Stensen first described tetralogy of Fallot in 1571 (Apitz 2015) and the clinical picture was described anatomically and pathologically by Sir Thomas Bevill Peacock in 1866 (Chopra 2013). The French pathologist Etienne Louis Arthur Fallot, after whom the tetralogy of Fallot was ultimately named, coined the term "tetralogy" in 1888 (Chopra 2013).

The first open heart surgeries with the heart-lung machine have been possible since 1953 (Schmaltz 1998).

In 2014, Sylva van den Hoff and Moorman published a comprehensive review of the most important steps in embryonic heart development (Buijtendijk 2020).

A congenital vitium is a malformation of the heart or large vessels acquired during the embryonic period (Herold 2025).

Congenital heart defects (AHF) are divided into congenital heart defects without shunt (Ludwig 2020), congenital acyanotic vitia with left-to-right shunt and congenital cyanotic vitia with right-to-left shunt:

• Vitia without shunt:
  • Coronary anomalies
  • Pulmonary stenosis
  • Aortic stenosis
  • Aortic isthmus stenosis
  • Congenitally corrected transpositions (Ludwig 2020)

• Acyanotic vitia:
  • Atrial septal defect
  • Ventricular septal defect
  • Partial pulmonary vein malformation
  • Aortopulmonary window
  • Atrioventricular septal defect
  • Persistent ductus arteriosus botalli (Herold 2025)

• Cyanotic vitia:
  • Tetralogy of Fallot
  • Tricuspid atresia
  • Transposition of the great vessels
  • Pulmonary atresia
  • Truncus arteriosus
  • Total pulmonary vein malformation, etc. (Herold 2025)

Around 0.8% - 1% of all newborns are born with a congenital cardiac vitium (Ludwig 2020).

• The most common vitia include:
  • Ventricular septal defect (31%)
  • Atrial septal defect (7%)
  • Tetralogy of Fallot (5.5%)
  • Pulmonary stenosis (7%)
  • Persistent ductus arteriosus botalli (7% [Menche 2020])
  • Aortic isthmus stenosis (5%)
  • Transposition of the great arteries (4.5%)
  • Aortic stenosis (4% [Steffel 2011])
• The most common cardiac conditions that occur in adulthood include:
  • Persistent foramen ovale
  • Atrial septal defect
  • Aortic isthmus stenosis (Steffel 2011)

Cyanotic shunt ventriculitis is much rarer than acyanotic shunt ventriculitis (Kröner 2010).

The causes of congenital vitia are multifactorial, e.g. due to environmental influences, genetics, infections, etc. (Herold 2025). In heart development, the critical phase is between the 14th and 60th day of pregnancy (Steffel 2011). Known causes of heart maldevelopment to date include:

• Exposure to radiation
• Embryotoxic substances such as alcohol or drugs (Herold 2025)
• Various medications such as lithium
• Diseases of the mother such as diabetes mellitus
• Infections such as rubella
• Point mutations such as Marfan syndrome
• Chromosomal aberrations such as trisomy 21, Edwards syndrome, Turner syndrome
• Chromosomal microdeletions such as 22q11 (Steffel 2011)
• Hypoxia phases
• Immunological processes (Ludwig 2020)

In the vast majority of congenital vitia, the diagnosis is made in infancy or childhood (Ludwig 2020).

The following diagnostics should be performed:

• Detailed medical history, including any catheter-based interventions and operations that may have already been performed
• Clinical examination including auscultation, blood pressure measurement and signs of heart failure
• ECG
• Pulse oximetry
• Chest X-ray
• Transthoracic echocardiography
• possibly also transthoracic echocardiography (ESC pocket guideline 2020)

Congenital vitia are a domain of cardiac cross-sectional imaging (Gutberlet 2006).

Echocardiography:

In particular, pressure gradients in the case of obstruction and the pressure in the small circulation can be estimated. Highly mobile structures such as vegetations can also be detected (ESC Pocket Guideline 2020).

However, echocardiography often cannot fully visualize the complex anatomy, especially the retrosternal regions such as the right ventricular outflow tract, pulmonary arteries, right ventricle, etc. (Gutberlet 2006).

Cardiovascular magnetic resonance imaging (CMR)

Compared to computer tomography, the advantages of CMR lie in the lack of radiation exposure on the one hand, and in the wide range of possibilities for functional cardiac analysis such as flow measurements, spectroscopy and intervention of ventricular function on the other (Gutberlet 2006).

Computed tomography

This is required for specific indications such as:

• Quantification of RV volumes, EF (including systemic RV, subpulmonary RV and univentricular heart)
• Quantification of pulmonary insufficiency
• Evaluation of right ventricular outflow tract obstruction and RV-PA conduits
• Assessment of systemic and pulmonary veins (obstruction, malformation, coronary vein anatomy prior to intervention, etc.)
• Detection and quantification of myocardial ischemia by perfusion examination under stress
• Evaluation of extra- and intracardiac space-occupying lesions
• Assessment of the pulmonary arteries (aneurysms, stenoses) and the aorta (dissection, aneurysm, coarctation)
• Detection and quantification of myocardial fibrosis/scarring
• Quantification of perfusion distribution in left and right lung
• Collaterals and arteriovenous malformations
• Coronary artery disease and coronary anomalies
• Measurement of pulmonary blood flow in patients with multiple blood supply sources (e.g. with large aortopulmonary collaterals)
• Quantification of myocardial mass
• Quantification of systemic and pulmonary blood flow to calculate Qp:Qs (ESC Pocket Guideline 2020)

All patients with congenital vitia should be presented at least once to a specialized center for congenital heart disease. Due to the complexity of the disease, cyanotic patients should only be treated by specialists in congenital heart disease (ESC Pocket Guideline 2020).

The further therapeutic procedure depends on the type of congenital heart disease.

A distinction is made between palliative and curative interventions. The latter can only rarely be achieved, as there are almost always residual effects postoperatively that require lifelong treatment or observation (Herold 2025).

In earlier times, 25% of those affected died in infancy, a further 55% in the first 2 years of life and only around 15% reached adulthood (Steffel 2011).

Today, > 95% of children with severe congenital heart defects reach adulthood (Herold 2025).

1. Buijtendijk M F J, Barnett P, van den Hoff M J B (2020) Development oft he human heart. Am J Med Genet C Semin Med Genet. 184 (1) 7 - 22
2. Chopra H K et al. (2013) Textbook of Cardiology: A Clinical and Historical Perspective. Jaypee Brothers Medical Publishers 273 - 274
3. ESC Pocket Guideline: Treatment of adults with congenital heart disease (EMAH) Version 2020. German Society of Cardiology and Cardiovascular Research (DGK), European Society of Cardiology (ESC). Doi: https://guidelines.dgk.org/files/16_2020_pocket_guidelines_emah.pdf
4. Gutberlet M, Fröhlich C, Spors B, Grothoff M, Klimes K, Abdul-Khaliq H, Berger F, Felix R (2006) Congenital vitia. RöFo 178 RK_301_2
5. Herold G et al (2025) Internal medicine. Herold Publishers 181
6. Kasper D L, Fauci A S, Hauser S L, Longo D L, Jameson J L, Loscalzo J et al. (2015) Harrison's Principles of Internal Medicine. Mc Graw Hill Education
7. Kröner C, Koletzko B (2010) Basic knowledge of pediatrics. Springer Verlag Berlin / Heidelberg 212
8. Ludwig M (2020) Pepetitorium specialist examination in internal medicine. Elsevier Urban and Fischer Publishers Germany 121-127
9. Menche N (2020) White series: internal medicine. Elsevier Urban and Fischer Publishers Germany 50
10. Schmaltz A A, Apitz J, Singer H, Wagner G (1998) Congenital heart defects with predominant left-to-right shunt. In: Apitz J Pediatric Cardiology. Steinkopff Verlag Heidelberg Chapter 7 doi: https://doi.org/10.1007/978-3-642-53754-7_7
11. Steffel J, Lüscher, TF (2011) Congenital malformations of the cardiovascular system in adults. In: Cardiovascular system. Springer textbook. Springer, Berlin, Heidelberg. 148 https://doi.org/10.1007/978-3-642-16718-8_13