BOLI CONGENITALE CARDIACE

Malformatii prin anomalii embrionare cu insuficienta in dezvotarea embrionara sau fetala a cordului Definitie

1% din nasteri 4% din nasterile mamelor cu boli congenitale carediaceEpidemiologie

complex multifactorial genetic< 10% anomalii ale unei singure geneEtiologie componenet in boli genetice cu determinari sistemice sindr. Down, Turner diagnostic prenatal anomalii cromozomale fetale

Boli congenitale cardiace - Necianogene - Cianogene

- Circulatie pulmonara bogata- Circulatie pulmonara saraca

BOLI CARDIACE CONGENITALE NECIANOGENE CU SUNT STG-DRunt stanga dreapta atrial DSA DSA + SM ( Sindr. Lutambacher)anomaliide insertie a VP ventricularDSV DSV + IAla nivele multiplecanal atrioventricular comun

BOLI CARDIACE CONGENITALE NECIANOGENE CU UNT STG-DRunt stanga dreapta aorto-pulmonar canal arterial fereastra aorto-pulmonara aortic root in cord dreptarterea coronara stg din AP fistula arteriovenoasa coronaraRuptura de sinus anevrism Valsalva

BOLI CARDIACE CONGENITALE CIANOGENE Cresterea fluxului pulmoanar transpozitia complata a marilor vase trunchiul arterial anomalie totala de conectie a VP ventricul unic flux pulmonar normal sau decrescut boala Ebstein atresia AP, atresia tricuspida tetralogia Fallot

BOLI CARDIACE CONGENITALE CIANOGENE FARA UNT cordul stang SM cord atrium SA coarctatia de aorta insuficienta aortica cordul drept boala Ebstein SP, IP dilatatia de trunchi AP

Patogenie anomalii cardiocircultorii modificari hemodinamice cardiace incarcare presiune - SA, SP - incarcare de volum - sunturile intracardiace - sunturi extracardiace - incarcare volum/presiune - HP sindromul Eisenmenger - formele cianogene: - eritrocitoza - sindrom hipevascozitate

Generalitati - bolile cardiace congenitale anomalii cardiocircultorii - diagnosticate la nastere tolerate pana in adolescenta / adult (bicuspidia aortica, DSA, DSVmic)

HIPERTENSIUNEA PULMONARA - cresterea fluxului sau/si rezistenteivaselor pulmanare Sindromul Eisenmenger - modificari obstructive/obliterative a vaselor pulmonare (remodelare vasculara) progresive, independente - unt important stanga - dreapta - HTP initial de debit - HTP remodelare vasculara - evolutie ireversibila - fara raspuns la terapia medicamentoasa - tratament eficient: transplant pulmonar + corectia bolii cardiace

ERITROCITOZA - hipoxemie eritropoietina - eritrocitoza - eritrocioza compensata Ht 65% - sindrom de hipervascozitate- flebotomia - deperditie de Fe - microcitoza deformare redusa a eritrociteor in microcirculatie si sindr de hipervascozitate la Ht mai mic

ERITROCITOZA - flebotomia - 500ml in 45 minute- compensata volumic - sol izotona glucoza(5%)- tratamentul cu Fe* pentru hipervascoziatea cu microcitoza (atentie nu rapid pentru a nu stimula eritrocitoza rapida!)

Boli congenitale cianogene - hemostaza anormala - crestere volumica, angorjare vasculara - functie trombocitara anormala - anomalii coagulare extriseca + intrinseca - contravceptive contraindiacate !!!!!- risc stroke - boli cianogene - eritroza asociata cu: - deshidratare - aritmii atriale - endocardita infectioasa

- Defectul septal atrial- cea mai comuna anomalie congenitala la adult, mai frecventa la femei- de tip sinus venos - aproape de intararea venei cave in AD - asociaza anomalii de conectare a VP - de tip ostium primum - aproape de valvele AV , deformari valve AV mai frecvent cele posterioare, +/- DSV, frecvent in S Down - de tip ostium secundum - medioseptal, anomalie anatomica si functionala - foramen ovale - fara consecinte functionale

- Marimea fluxului prin DSA - dependent de - marimea DSA - proprietati distolice AS,VS - impedanta pulmonara, sistemica

Patients with atrial septal defect are usually asymptomatic in early life, although there may be some physical underdevelopment and an increased tendency for respiratory infections; cardiorespiratory symptoms occur in many older patients. Beyond the fourth decade, a significant number of patients develop atrial arrhythmias, pulmonary arterial hypertension, bidirectional and then right-to-left shunting of blood, and cardiac failure. Patients exposed to the chronic environmental hypoxia of high altitude tend to develop pulmonary hypertension at younger ages. In some older patients, left-to-right shunting across the defect increases as progressive systemic hypertension and/or coronary artery disease result in reduced compliance of the LV.

Copyright 2001 McGraw-Hill. All rights reserved.- determina - HP se accentueaza prin- hipoxie (altitudine, etc) - scaderea compliantatei VS (BCI, varsta) - HP determina sunt bidirectional prin aparitia sunt dr-stg

- DSA

Patients with atrial septal defect are usually asymptomatic in early life, although there may be some physical underdevelopment and an increased tendency for respiratory infections; cardiorespiratory symptoms occur in many older patients. Beyond the fourth decade, a significant number of patients develop atrial arrhythmias, pulmonary arterial hypertension, bidirectional and then right-to-left shunting of blood, and cardiac failure. Patients exposed to the chronic environmental hypoxia of high altitude tend to develop pulmonary hypertension at younger ages. In some older patients, left-to-right shunting across the defect increases as progressive systemic hypertension and/or coronary artery disease result in reduced compliance of the LV.

Copyright 2001 McGraw-Hill. All rights reserved.- asociaza - aritmii atriale - infectii pulmonare - insuficienta cardiaca- risc mic de endocardita infectioasa daca: - nu asociaza IM - DSA reparat cu petec

- DSA

Patients with atrial septal defect are usually asymptomatic in early life, although there may be some physical underdevelopment and an increased tendency for respiratory infections; cardiorespiratory symptoms occur in many older patients. Beyond the fourth decade, a significant number of patients develop atrial arrhythmias, pulmonary arterial hypertension, bidirectional and then right-to-left shunting of blood, and cardiac failure. Patients exposed to the chronic environmental hypoxia of high altitude tend to develop pulmonary hypertension at younger ages. In some older patients, left-to-right shunting across the defect increases as progressive systemic hypertension and/or coronary artery disease result in reduced compliance of the LV.

Copyright 2001 McGraw-Hill. All rights reserved.- evolutie - asimptomatica - simptomatica - adolescent/adult- prognostic - supravietuire > 40 - 50 ani - simptome/deteriorare - hemodinamica ce se agraveaza progresiv la > 50 ani

- DSA - HP cu sunt bidirectional - cianoza - suflurile diminua - Zg II accentuat, fara dedublare - apare suflu de RT - examen fizic- suflu mezosistolic pulmonar de ejectie - dedublare fixa Zg II, neinfluentata de respiratie - suflu mezodiastolic tricuspidian de debit - Zg I intarit si dedublat la tricuspida

- DSA - HP cu sunt bidirectional - cianoza - suflurile diminua - Zg II accentuat, fara dedublare - apare suflu de RT - ECG- deviatie axiala dreapta - bloc AV grad I (sinus venos) - deviatie axiala stanga ostium primum - aritmii atriale origine in AD- HAD, HVD

- DSA - Rx cord-plaman- AP > - AD >, VD > - circulatie pulmonara crescuta

- ECO ( parasternal, apical, subcostal) - ECO 2D - AD >, VD > - miscare paradoxala SIV - ECO transesofagian - informatii neclare la ECO transtoracic- anomalii congenitale complexe - ECO Doppler flux color- flux tarnsatrial stg-dr

- Cateterism cardiac - Hipertensiune pulmonara - anomalii congenitale asociate- suspiciune boala coronara asociata

- Tratament - inchidere chirurgicala cu petec de pericard, material prostetic - ideal: 3-6 ani, cand raportul: flux pulmonar / flux sistemic >2:1 - inchidere chirurgicala si reparie valvulara- ostium primum

- Defect septal ventricular DSV - cea mai frecventa anomalie congnitala izolata si cea mai frecventa anomalie din combinatii - simpome/evolutie - dependente de - marimea defectului - starea circulatiei pulmonare- asocierea IA, prolaps VA- DSV mic/moderat adolescent/adult - DSV mare prima copilarie

- DSV hemodinamica unt initial stanga dreapta - simptome: - dispnee - tuse +/- hemoptizie - durere toracica - sincopa incarcare volumica circulatie pulmonara - HP-Sindrom Eisenmenger (evolutie progresiva, independenta)unt dreapta stanga - cianoza, hippocratism digital, - eritrocitoza- hipervascozitate

Prognostic DSV marimea suntului DSV hipertensiunea pulmonara marimea HP influenteaza prognosticul - rezistenta pulmonara

Rx cord plaman - VD> - VD+VS> - AP > - circulatie pulmonara crescuta ECO - 2D-Eco VD>, VS> - Doppler - suntul si directia fluxului interventricular Cateterism caracteristici circulatie pulmonara - anomalii asociate

Tratament DSV

DSV mare/moderat - fluxul pulmonar/sistemic: 1,5 - 2 - rezistenta pulmonara/sistemica

Canal arterial (CA)

AP la bifurcatie - Ao distal de a subclavie - CA prezent la fetus, dispare la nastere fluxul CA depinde de - diametru, lungimea CA - rezistenta sistemica/pulmonara - rezistenta sistemica sistolica si diastolica Ao> AP

Canal arterial examen fizic - suflu de masinarie RX cord plaman - AP > - circulatie pulmonara > - AD>,VD> ECG - HAD,HVD > ECO cord - AD,VD >

Canal arterial evolutie 1. - sunt stanga - dreapta cu incarcare volumica pulmonara - Sindr Eisenmenger - inversarea suntului dreapta- stanga inaorta descendenta cianoza degetelor picioarelor nu si a mainii - cianoza diferentiala

2. insuficienta cardiaca 3. endocardita infectiosa 4. anevrism, ruptura, calcificare duct

Canal arterial tratament

1. ligatura dutului - in absenta HP severe

2. inchiderea cu device intravascular (umbrela, etc..)

Ruptura anevrism sinus Valsalva . anevrismul sinusului Valsalva - lipsa de fuziune intre media Ao si inelul fibros al valvei Ao

- ruptura intre cuspa coronara dr si VD, rar AD, incarcare de volum VD Manifestari clinice: - 30-40 ani - durere retrosternala - suflu continuu, acentuat diastolic Eco diagnosticaTratament sutura chirurgicala

Boli cianotice congenitale

Boala Ebstein anomalii de atasare a VT - VT displazica inserata cu 5mm mai jos decat VM +/- RT - AD marit atrializarea unei parti din VD- VD mic, adesea hipoplazic - DSA (25% cazuri) cu sunt dreapta / stanga

Boala Ebstein Clinic: - aritmii atriale, Zg 1 si Zg2 dedublate- suflu sistolic de RT ECG: - PR >, BRD

Boala Ebstein ECO 2D anomalia de insertia a VT 5mm sub insertia VM

ECO Doppler - gradul de RT

Boala Ebstein Rx antero-posterior - cord sabot AD marit- Circulatia pulmonara