Facets

1882 CE–1883 CE

#11737

"A study of the malformations, variations, and anomalies of the circulatory apparatus in man," with a brief consideration of some of the principles governing their production.

A pioneering study of the embryology of the cardiovascular system and its relationship to congenital heart disease.

1886 CE

#3067.1

A case of haemophilia: pedigree through five generations.

True hemophilia in a female. The family was the subject of several later investigations, the last being reported in Lancet, 1973, 2,734.

1784 CE

#2734.4

A treatise on the diseases of children.

Underwood laid the foundation of modern pediatrics. His work was superior to anything that had previously appeared and remained the most important book on the subject for sixty years, passing through many editions. Th…

1788 CE

#2280

An account of a remarkable transportation of the viscera.

Baillie recorded a case of congenital dextrocardia with complete situs inversus viscerum. Reprinted in Willius & Keys, Cardiac classics, 1941, pp. 257-62.

1803 CE

#3054

An account of an haemorrhagic disposition existing in certain families.

Otto recognized and adequately described hemophilia, noting that females are not affected but may transmit the disease. His paper is one of the first great contributions to medicine in North America. Reproduced in Maj…

1946 CE

#3045

Anastomosis of the aorta to a pulmonary artery. Certain types in congenital heart disease.

With S. Smith and S. Gibson.

1927 CE

#3141

Anemia in children, with splenomegaly and peculiar changes in the bones.

“Cooley’s erythroblastic anemia”, thalassemia. With E. R. Witwer and O. P. Lee. An earlier brief account by Cooley and Lee appeared in Trans. Amer. Pediat. Soc.,1925, 37, 29.

1936 CE

#2865

Atlas of congenital cardiac disease.

1945 CE

#10653

Atrial septal defect: Study of hemodynamics by the technique of right heart catheterization.

The first description of the use of a cardiac catheter as a diagnostic tool, in this case a congenital heart defect. The authors worked in the laboratory of Eugene Stead, Jr. at Grady Memorial Hospital, Atlanta, Georgia.

1928 CE

#2856.1

Beiträge zur Lehre von den angeborenen Herzfehlern.

Roesler described the most important roentgenologic sign of aortic coarctation.

1939 CE

#912

Blood groups.

Boyd showed that blood groups are inherited and not changed by environment.

1913 CE

#3028.1

Chirurgie des malformations congénitales ou acquises du coeur.

First attempt at surgical relief of valvular disease of the heart (congenital pulmonary stenosis). Experimental valvotomy.

1952 CE

#3108.1

Christmas disease, a condition previously mistaken for haemophilia.

Christmas disease, hemophilia B, due to lack of Factor IX. Named after the patient whose case was the first recorded example. With six co-authors.

1949 CE

#12289

Complete transposition of the aorta and a levoposition of the pulmonary artery; clinical, physiological, and pathological findings.

Taussig–Bing syndrome, a cyanotic congenital heart defect[1] in which the patient has both double outlet right ventricle (DORV) and subpulmonic ventricular septal defect (VSD).[2]

1948 CE

#11766

Congenital anaomies of the heart and great vessels. Clinicopathologic study of 132 ases.

An extensively illustrated pathological-anatomical and physiological presentation with an historical approach.

1927 CE

#2856

Congenital cardiac disease by Maude Abbott. IN: Modern medicine: Its theory and practice, edited by Sir William Osler, assisted by Thomas McCrae. 3rd ed., 4, 612-812.

1945 CE

#3044

Congenital coarctation of the aorta and its surgical treatment.

Crafoord and Gross (No. 3044.1) pioneered this basic operation in cardiac and pediatric surgery.

1982 CE

#12368

Congenital heart disease: Benchmark papers in human physiology.

1965 CE

#11587

Congenital heart disease: Correlation of pathologic anatomy and angiography. 2 vols.

With Lewis Carey and Richard Lester.

1950 CE

#2882

Congenital heart disease.

A new classification proposed.

1947 CE

#2878

Congenital malformations of the heart.

This 618-page work, which required ten years to write, was the first "definitive textbook" of congenital heart defects, a subspecialty of pediatrics that Taussig created. The second edition, published in 1960, was ess…

1888 CE

#2792

Contribution à l’anatomie pathologique de la maladie bleu (cyanose cardiaque).

The “tetralogy of Fallot.” He gave an important, but not the first, account of this condition (see Nos. 2726.1 & 2761). Abstract translation in Willius & Keys, Cardiac classics, 1941, pp. 689-90.

1955 CE

#3047.7

Controlled cross circulation for direct-vision intracardiac surgery; correction of ventricular septal defects, atrioventricularis communis, and tetralogy of Fallot.

Controlled cross circulation (human heart–lung “machine”) for intracardiac surgery.

1954 CE

#3047.6

Controlled cross circulation for open intracardiac surgery; physiologic studies and results of creation and closure of ventricular septal defects.

Warden and colleagues undertook the first repair of various cardiac anomalies. With M. Cohen, and R.C. Read.

1966 CE

#12369

Creation of an atrial septal defect without thoracotomy. A palliative approach to complete transposition of the great arteries.

Rashkind balloon atrial septostomy to treat transposition of the great vessels.

2021 CE

#13478

CRISPR-Cas9 gene editing for sickle cell disease and ß-thalassemia.

First application of CRISPR gene editing in the successful cure of diseases. Order of authorship in the original publication: Frangoul, Altshuler, Cappellini. (Thanks to Juan Weiss for this reference and its interpret…

1871 CE

#3766.1

De la microcythémie

Vanlair and Masius were the first to suggest the concept of hereditary hemolytic anemia. Their paper was republished in book form, Brussels, 1871.

1974 CE

#12245

Diagnosis of cyanotic congenital heart malformations in infants by real-time, two-dimensional echocardiography.

Two-dimensional (cross-sectional) echocardiography.

1897 CE

#2806

Die angeborenen Defecte der Kammerscheidewand des Herzens.

“Riding aorta”, patent interventricular septum and right ventricular enlargement – the “Eisenmenger syndrome”.

1898 CE

#11716

Die angeborenen Herzkrankheiten.

The first systematic treatise on congenital heart defects. Digital facsimile from the Internet Archive at this link.

1875 CE

#2778

Die Defecte der Scheidewände des Herzens.

Rokitansky’s memoir on defects of the septum of the heart was his last work, and possibly his greatest. It represented 14 years’ study of the subject.

1890 CE

#3069

Die Gelenkerkrankungen bei Blutern mit Berücksichtigung der Diagnose.

König gave a detailed description of joint involvement in hemophilia.

1937 CE

#12352

Die Geschichte der angeborenen Herzkrankheiten.

A history of congenital heart disease covering cyanosis, foetal endocarditis and various malformations. Bedford 850.

1855 CE

#3063

Die Haemophilie oder die Bluterkrankheit.

First full clinical description of hemophilia.

1877 CE

#2780

Du rétrécissement mitral pur.

First description of congenital mitral stenosis, “Duroziez’s disease.”

2001 CE

#10335

Dying in the City of the Blues: Sickle cell anemia and the politics of race and health.

"Set in Memphis, home of one of the nation's first sickle cell clinics, Dying in the City of the Blues reveals how the recognition, treatment, social understanding, and symbolism of the disease evolved in the twentiet…

1904 CE

#3132.1

Elliptical human red cell corpuscles.

Hereditary elliptocytosis.

1671 CE–1672 CE

#2726.1

Embryo monstro affinis Parisiis dissectus.

First known description of the “tetralogy of Fallot” (see No. 2792). Reprinted in his Opera philosophica, ed. W. Maar, Vol. 2, Copenhagen, V. Tryde, 1910, pp. 49-53. For translation see Proc. Mayo Clin., 1…

1985 CE

#10785

Enzymatic amplication of B-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

Polymerase chain reaction first published. With Randall K. Saiki, Stephen Scharf, Fred Faloona et al. Order of authorship in the original paper was Saiki, Scharf, Faloona, Mullis.... In 1993 the Nobel Prize in Chemist…

1924 CE

#907.1

Ergebniss einer biostatischen zusammenfassenden Betrachtung über die erblichen Blutstrukturen des Menschen.

Bernstein, a mathematician, determined the correct blood group inheritance pattern of multiple alleles at one locus through statistical analysis.

1932 CE

#14087

Erythroblastosis fetalis and its association with universal edema of the fetus, icterus gravis neonatorum and anemia of the newborn.

The authors described and named this syndrome/illness of newborns for the first time, including pathological findings, clinical data, lab abnormalities, presentation and course of illness. Order of authorship in the o…

1925 CE

#3087.1

Familial icterus gravis of the new-born and its treatment.

Successful exchange transfusion.

1927 CE

#3142

Familiäre infantile perniziösaartige Anämie (perniziöses Blutbild und Konstitution).

“Fanconi’s syndrome”, congenital hypoplasia of bone marrow with multiple congenital defects occurring as a familial disease.

1957 CE

#3155.1

Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin.

Sickle-cell hemoglobin differs from normal hemoglobin by a single amino acid (valine for glutamic acid).

1959 CE

#3155.2

Genetic basis of the thalassaemia diseases.

1865 CE

#3915

Glycosurie, diabète sucré. In his Clinique médicale de l’Hôtel-Dieu, 2me. éd., 2, 663-98.

First description of hemochromatosis.

1940 CE

#2923

Grosse pulmonaire. Petite aorte. Affection congénitale.

Idiopathic dilatation of the pulmonary artery reported. With D. Routier and R. Heim de Balsac.

1911 CE

#3081

Haemophilia.

Bulloch and Fildes, in their detailed account of hemophilia, claimed to have established immunity to the disease in females, and denied the authenticity of published cases of female hemophilia. They confirmed the law …

1937 CE

#3096.1

Hemophilia. II. Some properties of a substance obtained from normal human plasma effective in accelerating the coagulation of hemophilic blood.

Antihemophilic globulin (factor VIII).

1926 CE

#3087.2

Hereditär pseudohemofili.

Von Willebrand’s disease, pseudo-hemophilia type B, an hereditary bleeding disorder affecting both sexes.