Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is predominantly caused by a large number of various mutations in the genes encoding sarcomeric proteins. However, two prevalent founder mutations for HCM in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes have previously been identified in eastern Finland. OBJECTIVE: To assess the prevalence of these founder mutations in a large population of patients with HCM from all over Finland. Patients and methods. We screened for two founder mutations (TPM1-D175N and MYBPC3-Q1061X) in 306 unrelated Finnish patients with HCM from the regions covering a population of ∼4,000,000. RESULTS: The TPM1-D175N mutation was found in 20 patients (6.5%) and the MYBPC3-Q1061X in 35 patients (11.4%). Altogether, the two mutations accounted for 17.9% of the HCM cases. In addition, 61 and 59 relatives of the probands were found to be carriers of TPM1-D175N and MYBPC3-Q1061X, respectively. The mutations showed regional clustering. TPM1-D175N was prevalent in central and western Finland, and MYBPC3-Q1061X in central and eastern Finland. CONCLUSION: The TPM1-D175N and MYBPC3-Q1061X mutations account for a substantial part of all HCM cases in the Finnish population, indicating that routine genetic screening of these mutations is warranted in Finnish patients with HCM.

[Chronic back pain, hepatomegaly and dyspnea]. / Selkäkipuisen miehen suurentunut maksa ja hengenahdistus.

A 57-year-old male had suffered from back pain for years. Three years before the presenting symptoms he had had a lumbar disc operation during which he had bled markedly. Current symptoms of tiredness and dyspnea were new to this otherwise healthy and active man. Initial examinations revealed an enlarged liver, some ascites and signs of heart failure. A liver biopsy showed well-preserved structures with minor signs of inflammation. Cardiac cathetrization revealed increased pulmonary pressures and thus portopulmonary hypertension was suspected. A clinical examination, however, revealed a thrill and a strong systodiastolic murmur in the lower abdomen. CT-angiography confirmed the suspicion of an arteriovenous fistula. The fistula was successfully treated with a covered stent placed in the common iliac artery.

[Update on current care guidelines. The treatment of status epilepticus]. / Pitkittynyt epileptinen kohtaus.

Status epilepticus is a medical emergency. Most epileptic seizures last for 1-4 minutes and seizures lasting over five minutes, should be treated as status epilepticus. EEG is essential for diagnostics and the monitoring of treatment effect. The treatment for status epilepticus, irrespective of aetiology, can be divided into first-aid medications, such as buccal midazolam or rectal diazepam, first-line medications such as intravenous diazepam or lorazepam, and second-line medications such as fosphenytoin and valproate for adults and phenobarbital for children. Third-line treatment is suppressive general anaesthesia, monitored by continuous EEG. Antiepileptic medication of patients with epilepsy should be carefully re-evaluated after episode of status epilepticus.