Day 1 :
La Salpêtrière Hospital, France
Guy H Fontaine has made 16 original contributions in the design and the use of the first cardiac pacemakers in the early 60s. He has serendipitously identified ARVD during his contributions to antiarrhythmic surgery in the early 70s. He has developed the technique of Fulguration to replace surgery in the early 80s. He has been one of the “216 individuals who have made a significant contribution to the study of cardiovascular disease since the 14th century”, one of the “500 greatest geniuses of the 21th century” (USA Books), one of the “100 life time of achievement” (UK Book). He has 900+ publications including 201 book chapters. Reviewer of 21 scientific journals both in basic and clinical science. 11 master lectures of 90’ each in inland China in 2014. He has developed new techniques of hypothermia for neurologic brain protection in OHCA, stroke and spinal cord injury. He is the first to have resuscitated his wife at home with an external defibrillator (Schiller) still working after 30 years. He has also recently invented a high-tech device which can be considered as the ultimate in palliative care.
An increasing number of genetic mutations can explain the mechanism of inherited cardiomyopathies which can lead to arrhythmias and risk of sudden death as well as irreversible heart failure in the end stage of the disease.
Arrhythmogenic Right Ventricular Dysplasia (ARVD) has been identified by the presenter in 1977 as side work at the beginning of anti-arrhythmic surgery. Genetic background has been discovered mostly due to PKP2 desmosomal mutation with increased RV size, presence of large amount of fatty tissue mostly located on the Right Ventricle with apoptotic thinness of the free wall and segmental anomalies of contraction. Based on systematic analysis of histology of right ventricle in patients who died of a non-cardiac cause it was found that this disease is frequent in the general population (4%) but become clinically apparent in a small number of cases. Clinical presentation is mostly ventricular arrhythmias which can lead to unexpected sudden cardiac death especially in young people and during endurance sports. Some of these patients seen at a late stage of the disease can be misclassified as IDCM in whom heart transplantation is the the only effective treatment. However, in some rare patients, the disease can stop completely its progression. An important marker of the disease is the presence of Epsilon wave on the ECG.
Naxos disease, Uhl’s anomaly are rare but important forms. They have initiated the discovery of the fist mutation and help in the understanding of arrhythmogenicity as well as advanced forms of treatment including drugs, ablation and implantation of Implanted Cardiac Defibrillator.
Brugada syndrome (BrS) has a unique ECG pattern of coved type of the T wave of the ECG observed only in lead V1. Structural changes are sometimes suggesting ARVD. However, BrS and ARVD are two different entities with some degree overlap both phenotypically and genotypically in a small number of cases. Both of them can be controlled by antiarrhythmic drugs, ablation of ventricular tachycardia and implanted cardiac defibrillator.
Right Ventricular Outflow Tract Ventricular Tachycardia (ROVT VT) is generally benign but one personal case of SD with pathologic documentation demonstrated a localised infundibular anomaly suggesting localised ARVD.
Hypertrophic Cardiomyopathy (HCM) is produced by a genetic mutation in the contractile molecules of the heart producing hypertrophy of myocardial fibres with disarray. It is also a major cause of SD during sports recognised as the most frequent.
Idiopathic Dilated Cardiomyopathy (IDCM) is mostly due to multiple genetic mutations lamin and myosin affecting myocardial force of contraction.
All of these cardiomyopathies can be affected by superimposed myocarditis which is frequently the determinant of prognosis.
American Hospital of Paris, France
Jean Pierre Usdin, MD., is a former internal of the Hospitals of Paris, former head of clinic, assistant of the Hospitals of Paris, former consultant in scientific committee of medical Journal CONSENSUS and previous chief of the cardiologic department of American Hospital of Paris(2006-2012). He is currently renowned cardiologist at American Hospital of Paris, member of European Society of Cardiology, member of French Society of Cardiology. Being a journalist and blogger in Medscape France(from 2010) he has blogs dedicated to general cardiology: reports discussions and notes about trials, cardiology congresses, live-comments on 2015 ESC congress in London.
Professor Fred Siguier (1909-1972) a major physician in the 50’ use to start a patient’s exam saying “Tell me exactly, precisely, in which circumstances your health problem started” Professor Siguier suffered of progressive blindness. So he asked to his assistants to make a full examination and to report their findings to their master’s sagacity. People with rare, but not only, diseases came from everywhere, seeking for Siguier’s perceptiveness to make clinical diagnosis he was a legend, the father of Internal Medicine.
Of course it is an old story and so clinical exam… Things are not the same actually, medical history and searching for a splenomegaly, describing cardiac murmur are obsolete. X-rays, Ultrasounds are doing this job.
The question is where is the relationship between physician and his (her) patient? The answer is in the computer sir!
No need for making a full history, it is in the patient’s file, no need to point out a specific symptom, it is in the Medical report.
Time is money: ask for all the laboratory tests and most imaging at the same time “in a parallel way” we will discuss after of the results…and the discovery of “abnormalities” we were not searching!
However what needs the patient from his doctor is: physician’s attention. The patient likes the palpation of his (her) abdomen, the listening of his (her) lungs, feeling doctor‘s hands on his (her) body searching for an abnormality “it hurts here doctor!”
Considering efficiency/cost ratio clinical exam is without any doubt the leader, leaving far away RMI, specific and expensive lab tests.
“Ecoutez le malade, il vous donne, vous offre généreusement le diagnostic.” (Listen to the patient, he gives you, he generously offers to you the diagnosis” Used to say Fred Siguier.