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CONTRIBUTION TO CLINICAL AND CHROMOSOMAL INVESTIGATION OF CAUSES OF CONGENITAL HEART DISEASES

By ΜΑΡΙΑ ΨΑΘΑ-ΜΠΑΖΜΠΑΝΗ

Abstract

CONGENITAL HEART DISEASES (C.H.D.) CONSIST ABOUT 1/4 OF ALL CONGENITAL MALFORMATIONS. THE PURPOSE OF THE PRESENT STUDY WAS TO INVESTIGATE ALL POSSIBLE FACTORS ETIOLOGICALLY CONNECTED WITH C.H.D. A SPECIAL PROTOCOL WAS MADE AND 193 CHILDREN WITH C.H.D AND 100 HEALTHY CHILDREN WERE STUDIED. ALL CHILDREN WERE CAREFULLY EXAMINED CLINICALLY, DETAILED FAMILY HISTORIES WERE OBTAINED AND ENVIRONMENTAL FACTORS POSSIBLY CONNECTED WITH C.H.D. WERE NOTED. WHERE NECESSARY, CYTOGENETIC STUDIES WERE PERFORMED. CHROMOSOMAL SYNDROMES PRESENTED 5,18% OF THEPATIENTS AND ANOTHER 2,9% HAD SINGLE MUTANT GENE SYNDROMES. IN 92,23% OF THE PATIENTS, NO CONCRETE ETIOLOGIC FACTOR FOR THEIR C.H.D. WAS DETECTED. THE COMPARISON OF THE RESULTS OF THIS LATTER GROUP WITH THOSE OF THE GROUP OF HEALTHY CHILDREN SHOWED: 1. FAMILIAL PREDISPOSITION WAS PRESENT IN 10,67% OF THE PATIENTS VERSUS 1% OF THE GROUP OF HEALTHY CHILDREN, 2. DRUG INGESTIONS BY MOTHERS AND INFECTIONS DURING PREGNANCY, AS WELL AS MATERNAL CHRONIC DISEASES ARE HIGH RISK FACTORS FOR THE PRESENCE OF C.H.D. AT THEIR CHILDREN, 3. THE FREQUENCY OF C.H.D. WAS HIGHER IN PREMATURE CHILDREN AND CHILDREN WHOSE MOTHERS PRESENTED SPONTANEOUS ABORTIONS AND SYMPTOMS OF THREATENED ABORTION, 4. THE FREQUENCY OF MAJOR EXTRACARDIAC MALFORMATIONS IN PATIENTS WITH C.H.D., WHO DID NOT SUFFER FROM CHROMOSOMAL AND SINGLE MUTANT GENE SYNDROMES WAS THREE TIMES HIGHERTHAN THAT OF THE HEALTHY CHILDREN.

Topics: CHROMOSOMAL CAUSES, Congenital heart diseases ( CHD), Environmental factors, Etiology, MULTIFACTORIAL INHERITANCE, SINGLE GENE CAUSES, Αιτιολογία, ΓΟΝΙΔΙΑΚΑ ΑΙΤΙΑ, ΠΕΡΙΒΑΛΛΟΝΤΙΚΟΣ ΑΙΤΙΟΛΟΓΙΚΟΣ ΠΑΡΑΓΟΝΤΑΣ, ΠΟΛΥΠΑΡΑΓΟΝΤΙΚΗ ΚΛΗΡΟΝΟΜΙΚΟΤΗΤΑ, Συγγενείς καρδιοπάθειες, ΧΡΩΜΑΤΟΣΩΜΙΚΑ ΑΙΤΙΑ
Publisher: Aristotle University Of Thessaloniki (AUTH)
Year: 1994
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