Heart defect

Classification according to ICD-10
Q24.9	Congenital malformation of the heart, unspecified
ICD-10 online (WHO version 2019)

A heart defect (also heart malformation, heart vitium, vitium cordis) is understood to be an innate or acquired structural peculiarity of the heart or adjacent vessels , which leads to functional impairments of the cardiovascular system or the cardiopulmonary system. These functional restrictions are commonly referred to as heart failure or heart failure . Cardiac output is a measure of the severity of such a heart failure .

Frequency and causes

In Germany, an average of 6,000 children are born each year with a congenital heart defect. This corresponds to 0.7 to 0.8% of all newborns.

The cause of most heart defects is currently unclear. A heart defect can be caused by structural chromosomal genome defects such as trisomy 21 ( Down syndrome ), trisomy 13 ( Pätau syndrome ) or trisomy 18 ( Edwards syndrome ). Some syndromic diseases include malformations of the heart, such as Marfan syndrome , DiGeorge syndrome (deletion 22q11), Noonan syndrome , Cornelia de Lange syndrome , Ellis van Creveld syndrome , Holt-Oram Syndrome , the Pierre Robin Sequence, or Williams-Beuren Syndrome . Also toxins (noxious) and heavy alcohol consumption during pregnancy (see: Fetal Alcohol Syndrome ) are associated with the occurrence of congenital heart failure in connection.

In addition, some drugs (phenytoin, 4-hydroxycoumarins , lithium , neuroleptics, thalidomide , folic acid antagonists ) or infections ( rubella ) can cause heart malformations.

Heart defects occur in connection with other malformations, for example in the urogenital or intestinal tract .

Chances of survival of those affected

Due to a wide range of medical and technical innovations and good drug treatment options (see below), 90% of all people with a congenital heart defect in countries with appropriate intervention options now reach adulthood. However, pediatric cardiology , a sub-area of pediatrics , is still predominantly the specialty of medicine that deals with congenital heart malformations, while cardiology, as a sub-area of internal medicine , mainly deals with diseases of the heart that occur in adulthood. The responsibility problem that arises as a result for adults with congenital heart defects (GUCH) is addressed through interdisciplinary offers. There are now self-help organizations for this patient group .

The possibilities of malformations are diverse. 85% of all heart defects are due to eight different variations. Heart defects are differentiated according to hemodynamic criteria, i.e. those affecting the blood flow in the heart: malformations without a shunt (i.e. short circuit in the serially connected blood flow), malformations with a right-left shunt or with a left-right shunt. The expression of heart defects can be more easily understood using the embryology of the heart (see web links).

Classification

Congenital malformations of the heart and vessels near the heart

• Heart in general:
  • Atrio-ventricular septal defect (= AVSD - AV canal) - malformation of the heart septum at atrial and ventricular level + malformation of the tricuspid valve and mitral valve
  • Ventricular septal defect (= VSD), also called Roger's disease (without cyanosis)
  • Atrial septal defect (= ASD) or atrial septal defect - atrial septum defect without cyanosis with the characteristics of persistent foramen ovale (= PFO), ASD II, ASD I, sinus venosus defect and sinus coronary defect (hole in the heart septum between the two atria)
  • Ebstein's anomaly - malformation of the tricuspid valve between the right atrium and right ventricle with a downward displacement of the valve plane
  • Fallot's tetralogy - complex heart malformation with cyanosis , consisting of a narrowing of the pulmonary valve (pulmonary stenosis), a ventricular septal defect, the " riding aorta " and an increase in the cardiac muscle mass of the right heart
  • Eisenmenger syndrome - ventricular septal defect with a "riding" aorta, in contrast to Fallot's tetralogy without pulmonary stenosis, but like this one with cyanosis
  • Fallot pentalogy - Fallot's tetralogy with open foramen ovale or atrial septum defect
  • Fallot trilogy - heart malformation with atrial septal defect, pulmonary stenosis and right hypertrophy as well as alternating cyanosis
  • Persistent foramen ovale (= PFO) (see also ASD II) - remaining fetal connection in the atrial septum
  • Pulmonary vein malocclusion
  • Shone complex - complex malformation of the left heart
  • Single ventricle :
    • with a functionally effective left ventricle. The right ventricle (pulmonary circulation) is not sufficiently developed.
      • Pulmonary atresia - closure / failure of the pulmonary valve
      • Tricuspid atresia - closure / failure of the tricuspid valve
    • with a functionally effective right ventricle. The left ventricle (body circulation) is not sufficiently developed.
      • Double outlet right ventricle (= DORV) - failure of the aorta to exit the right ventricle
      • Hypoplastic left heart syndrome (= HLHS) - complex heart malformation with atresia (non- application / occlusion) of the mitral and aortic valve and the aorta
  • Transposition of the large arteries (= TGA) - pulmonary artery (pulmonary artery) and aorta are interchanged and connected to the wrong ventricle. This means that the circuits normally connected in series are connected in parallel and the body receives unsaturated blood. Can not survive without additional malformations ( shunts ) or rapid intervention.
  • Corrected transposition of the large arteries (= CTGA or ccTGA) - the ventricles (heart chambers) are swapped, but in contrast to the TGA there is a functioning circulation.
  • Truncus arteriosus communis (= TAC) - aorta and pulmonary artery are not completely separated, aortic valve is malformed as a "trunk valve", ventricular septal defect
  • Ventricular septal defect (= VSD) - hole in the main ventricular septum

• Vascular and valve malformations :
  • Coarctation of the aorta (= ISTA) - narrowing of the aortic arch and descending part of the aorta, without cyanosis
  • Aortic stenosis - narrowing / malformation of the aortic valve between the left ventricle and the aorta
  • Subaortic stenosis
  • Two-sided aorta - with auscultation findings as in acquired aortic valve insufficiency
  • Aorto-pulmonary window - aorta and pulmonary artery are not separated in their initial part
  • Open or persistent ductus arteriosus Botalli (= PDA) - fetal connection between the pulmonary and body arteries that has remained open , heart defects without cyanosis
  • Marfan Syndrome - Connective tissue weakness with aortic root enlargement or aortic aneurysm
  • Mitral valve malformations
  • Lutembacher syndrome, auscultatory (and phonocardiographic) with all signs of mitral stenosis
  • Mitral valve prolapse - malformation / function of the mitral valve between the left atrium and the left ventricle
  • Pulmonary stenosis - narrowing / malformation of the pulmonary valve between the right ventricle and the pulmonary artery, heart malformation without cyanosis
  • Broken aortic arch

Another possibility of splitting inborn ( congenital ) heart defect is the distinction between cyanotic errors (with cyanosis and right-left shunt) and acyanotic errors (without cyanosis and divided into those with left-right shunt and those without shunt).

Diseases of the conduction system

• QT syndrome (LQTS)
• Sick sinus syndrome
• Wolff-Parkinson-White syndrome (= WPW syndrome)

Acquired heart and heart-lung diseases

• Valvular heart disease
• Endocarditis - inflammation of the lining of the heart
• Cardiac arrhythmias , etc. a. after operations in the area of ​​the right atrium
• Cardiomyopathy - heart muscle disease
• Kawasaki syndrome
• Myocarditis - a circumscribed inflammation of the heart muscle
• Protein loss syndrome - a disease that occurs in Fontan's circulation. Loss of protein from the lungs or intestines.
• Lung diseases and pulmonary complications:

• Pulmonary hypertension - pulmonary hypertension as a result of a congenital heart defect with a left-right shunt
• Eisenmenger reaction - shunt reversal as a result of fixed pulmonary hypertension in a congenital heart defect

• Impairment of the heart function by the funnel chest

Therapies

• Interventional cardiac catheters : here are procedures that can be used regardless of the clinical picture:
  • Coils - usually wire structures with which vessels can be closed using cardiac catheters.
  • Balloon dilatation of a heart valve / of a vessel: the stenotic (narrowed) heart valve / the vessel by means of a balloon catheter distended
  • Rashkind maneuver = balloon atrioseptostomy - tearing open the atrial septum using a balloon catheter, e.g. B. in TGA ( transposition of the great arteries , hypoplastic left heart syndrome )
  • Stent implantation - stents are small tubes made of plastic or metal that are inserted into a narrowed vessel using a cardiac catheter. You keep the vessel open and can, for. Sometimes, as the child grows, they are “post-dilated” (stretched).

• Operations: Surgical procedure independent of the heart defect. The surgical procedures are usually listed with the individual heart defect descriptions:
  • Blalock-Taussig anastomosis - connection between the large artery (carotid artery) and pulmonary artery to improve the pulmonary blood flow in right heart problems
  • Glenn anastomosis - connection of the superior vena cava with the pulmonary arteries, first step to the fountain circulation
  • Fontan operation - surgical technique to separate the circulation, usually in 2 steps: partial cavopulmonary anastomosis (PCPC, Glenn anastomosis) + TCPC
  • Pulmonary banding - narrowing of the pulmonary artery by a ribbon in left-right shunt heart defects
  • TCPC - Total Cavo-Pulmonary Connection; Complete venous-pulmonary artery connection after connecting the inferior vena cava to the pulmonary arteries. Completion of the Fontan circuit.
  • Operation according to Ross - replacement of an aortic valve with the patient's own healthy pulmonary valve

To prevent blood clotting ( anticoagulation )

With some heart defects, and especially after some heart defects have been corrected, patients are given long-term anti-coagulant drugs to reduce the risk of thrombosis . In addition to the weakly acting acetylsalicylic acid (ASA), there are the strong acting coumarins (Marcumar, Warfarin). These drugs must be discontinued in good time before surgery, as they can affect clotting for up to two weeks. The third active ingredient is heparin , which is mainly given in the clinic and intravenously. It works immediately with a short half-life.

The long-term use of coumarins (marcumar or warfarin) requires regular blood tests, which the patient or, in the case of the child, the parents can usually do themselves. The blood coagulation status , which can fluctuate after the increased consumption of foods containing vitamin K or possibly as a result of infections, must then be balanced by adjusting the drug dose. This restriction does not apply to the administration of ASA and heparin.

forecast

Advances in medicine have led to a significant increase in the life expectancy of affected patients. In the recent past a group of adolescent and adult patients with corrected, partially corrected or palliative treated heart defects (adults with congenital heart defects, GUCH) was created in 2004, estimated at over 250,000. Their targeted care led to new questions and requirements, so that the medical societies in German-speaking countries published a corresponding guideline in 2008.

literature

• Thomas Borth-Bruhns, Andrea Eichler: Pediatric Cardiology. Springer, Berlin et al. 2004, ISBN 3-540-40616-6 .
• Andreas Barankay (Hrsg.): Interdisciplinary care of congenital heart defects. Spitta, 2002, ISBN 3-934211-29-1 .
• G. Schumacher among others: Clinical pediatric cardiology. with CD-ROM. 4th, revised. and exp. Edition. Springer, 2008, ISBN 978-3-540-71900-7 .
• G. Hausdorf among others: Intensive therapy of congenital heart defects. Seinkopf, 2000, ISBN 3-7985-0842-9 .
• Catherina A. Neill, Edward B. Clark, Carleen Clark: Our Child Has a Heart Defect - Information and Advice for Parents. TRIAS, 1997, ISBN 3-89373-406-6 .
• Thierry Carrel, Katalin Vereb, Karl-Heinz Hug: A small heart becomes strong - the heart operation of four-year-old Celina. Experience report. Werd-Verlag, Zurich 2003, ISBN 3-85932-457-8 .
• Clemens Bollinger: A Heart for Nicole - The Story of a Transplant. Experience report. Krüger, Frankfurt am Main 2004, ISBN 3-8105-0460-2 .
• BVHK eV: Prenatal diagnosis of congenital heart defects. Aachen 2002, DNB 965814416 . Reference address .
• HERZKIND e. V .: "Tides" - heart children and their parents talk about their lives with the congenital heart defect. Reference address .
• Klaus Holldack, Klaus Gahl: Auscultation and percussion. Inspection and palpation. Thieme, Stuttgart 1955; 10th, revised edition, ibid. 1986, ISBN 3-13-352410-0 , pp. 181-197.
• Herbert Reindell , Helmut Klepzig: diseases of the heart and blood vessels. In: Ludwig Heilmeyer (ed.): Textbook of internal medicine. Springer-Verlag, Berlin / Göttingen / Heidelberg 1955; 2nd edition ibid. 1961, pp. 450-598, here: pp. 534-544 ( congenital malformations of the heart and large vessels ).

Web links

Wiktionary: Heart defects  - explanations of meanings, word origins, synonyms, translations

• Bundesverband Herzkranke Kinder eV
• Independent information on congenital heart disease
• In utero Diagnosis and Therapy of Congenital Heart Defects: Limits and Possibilities
• Cardiac embyrology
• Information on the subject of protein loss syndrome in the fontan circulation

Individual evidence

1. ↑ Alphabetical directory for the ICD-10-WHO version 2019, volume 3. German Institute for Medical Documentation and Information (DIMDI), Cologne, 2019, p. 261
2. ↑ Reinhard Larsen: Anesthesia and intensive medicine in cardiac, thoracic and vascular surgery. (1st edition 1986) 5th edition. Springer, Berlin / Heidelberg / New York et al. 1999, ISBN 3-540-65024-5 , p. 312 f.
3. ↑ Medical guidelines for the treatment of adults with congenital heart defects (GUCH). In: Clinical Research in Cardiology . Volume 97 (No. 3), 2008, pp. 194-214, pdf

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !