Deadly vasospasm.

A patient with Prinzmetal's variant angina (PVA) developed a cardiac arrest due to coronary vasospasm and subsequent myocardial infarction. After resuscitation postanoxic brain injury was diagnosed. After an initial improvement of consciousness he deteriorated rapidly on the seventh day after admission due to severe brain ischaemia apparently caused by cerebral vasospasm, until ultimately brain death was diagnosed. To our knowledge, the association between PVA and cerebral vasospasm has never been described. The combination suggests that this patient had a generalized vasospastic disorder.

[Two patients with Eisenmenger syndrome treated with novel agents that target vasodilation of the pulmonary capillary bed]. / Twee patiënten met het syndroom van Eisenmenger behandeld met nieuwe medicijnen gericht op vasodilatatie van het longvaatbed.

Two women with Eisenmenger syndrome, aged 63 and 45 years, presented with different symptoms: the first patient had peripheral oedema, proteinuria, progressive fatigue and cyanosis and the other had increasing dyspnoea and blue lips. The first patient was successfully treated with diuretics but experienced a collum fracture that occurred after hypovolemic collapse caused by diuretic use. She was given sildenafil and underwent hip surgery with spinal anaesthesia 10 days later. In the following weeks, the patient was haemodynamically stable but then died suddenly; no autopsy was performed. The second patient was given oxygen therapy at home and bosentan. After 6 months the symptoms of dyspnoea resolved and her 6-minute walking distance increased from 453 to 512 m. The life expectancy of patients with congenital heart disorders such as Eisenmenger syndrome has improved dramatically, due in part to the efficacy of novel agents that inhibit endothelial-cell proliferation. With these advances, treatment of these patients is no longer restricted to tertiary-care centres. Therefore, community cardiologists, pulmonologists and internists should be aware of these congenital heart disorders and the available treatment options.

Arrhythmogenic right ventricular cardiomyopathy: asymptomatic to life threatening as illustrated by the cases of two sisters.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disorder of unknown cause that is characterised by fibrofatty replacement, primarily of the right ventricular myocardium, which can lead to life-threatening arrhythmias. It is a disease with a very diverse phenotype. In the present article we describe two sisters, each with a different manifestation of this disorder. The first patient died suddenly at the age of 18 during exercise. Her 17-year-old sister did not have any abnormalities at first cardiac consultation, but a few years later she met several diagnostic criteria for ARVC and an internal cardioverter defibrillator was implanted. Genetic analysis identified a mutation in the plakophilin- 2 (PKP2) gene. Cardiac evaluation of a third sister did not reveal any abnormalities and no mutation in the PKP2 gene was found. Thus, ARVC can vary in its clinical presentation, not only between siblings but also in time. This raises difficulties for the physician for diagnosis, treatment and followup. It is important for the physician involved to consider this disease in patients with palpitations and syncope, especially when there is a family history of ARVC or unexplained sudden death. (Neth Heart J 2007;15:348-53.).

Cardiogenetic counselling in a non-university hospital.

BACKGROUND: Inherited heart disease is becoming a substantial part of everyday cardiology practice while genetic counselling still only takes place at university hospitals. In this study we review our seven-year experience with cardiogenetic counselling in a non-university hospital. METHODS: Retrospective analysis of patient records. RESULTS: A total number of 83 index patients were counselled. In 65 patients DNA tests were performed, resulting in 26 positive tests. In all patients with genotype confirmation of hereditary cardiovascular disease and in 32 families without a molecular diagnosis, family screening was advised. Out of 120 subsequently tested family members, 47 molecular genetic diagnoses were confirmed. CONCLUSION: Although the number of patients reviewed was small, our data show that cardiogenetic diseases are part of daily cardiology practice. We believe counselling should be performed in more general hospitals. This is an excellent opportunity for collaboration between university and nonuniversity hospitals, with immediate benefit for patients and their relatives. (Neth Heart J 2007;15:412-4.).