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Abstract. Kjeldsen AD, Oxhùj H, Andersen PE, Green A, Vase P (Odense University and Odense University Hospital, Odense; University of Aarhus, Aarhus; and the Department of Otorhinolaryngology, Svendborg, Denmark). Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT). J Intern Med 2000; 248: 255±262.Background. Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease. HHT is characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs) and neurological symptoms. Objective. To estimate (i) the prevalence of PAVM, and (ii) the occurrence of neurological symptoms in a geographical well-defined population of HHT patients. Methods. HHT family members were invited to a clinical examination including registration of HHT manifestations, screening for pulmonary arteriovenous malformations and neurological evaluation. Two groups served as controls: (i) first-degree relatives without any signs of HHT; and (ii) age-and gendermatched controls.

Echocardiographic estimates of left ventricular ejection fraction (ECHO-LVEF) in acute myocardial infarction (AMI) were obtained by a new approach, using visual analysis of left ventricular wall motion in a nine-segment model. The method was validated in 41 patients using radionuclide ventriculography (RNV) and contrast ventriculography measurements of LVEF for comparison. ECHO-LVEF from the 41 patients correlated well with the reference methods (y = 1.5x – 14.7, r = 0.93; linear regression analysis; 95 % confidence limit for a single determination of ECHO-LVEF was 17.2). Interobserver variability by linear regression was r = 0.89, SEE = 7.1 with a mean difference between paired observations of-1.5 ± 6.9 (SD). In a random sample of 18 patients (45 observations), ECHO-LVEF allowed separation between RNV-LVEF values ≧ 40 and < 40, representing low and high risk groups following AMI. Thus, the results showed that simple, readily available wall motion-derived estimates of LVEF were as closely associated with LVEF measured by standard reference methods as were previously published, more cumbersome, plani-metric echocardiographic methods. Reporting on global LVEF function in LVEF units rather than in nonstandardized wall motion scores of index values may facilitate intra- and interhospital communication and the use of optimized echocardiographic risk stratification after AMI.

Convincing reliability was found in the evaluation of disc- and muscle-related MRI variables.

Primary spontaneous pneumothorax in younger patients with their first episode had a much higher recurrence rate than previously reported. Every doctor who treats patients with primary spontaneous pneumothorax should be aware and patients informed.

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominantly inherited vascular disease characterized by the presence of mucocutaneous telangiectasia and visceral arteriovenous malformations (AVM). The clinical diagnosis of HHT is based on the Curaçao criteria. About 85% of HHT patients carry mutations in the ENG, ACVRL1 or SMAD4 genes. Here, we report on the genetic heterogeneity in the Danish national HHT population and address the prevalence of pulmonary arteriovenous malformations (PAVM). Probands of 107 apparently unrelated families received genetic testing, including sequencing and multiplex ligation-dependent probe amplification (MLPA) analyses of ENG, ACVRL1 and SMAD4. These 107 families included 320 patients confirmed to have HHT either clinically or genetically. In 89% of the probands (n=95), a mutation was identified. We detected 64 unique mutations of which 27 (41%) were novel. Large deletions were identified in ENG and ACVRL1. The prevalence of PAVM was 52.3% in patients with an ENG mutation and 12.9% in the ACVRL1 mutation carriers. We diagnosed 80% of the patients clinically, fulfilling the Curaçao criteria, and those remaining were diagnosed by genetic testing. It is discussed when to assign pathogenicity to missense and splice site mutations. The adding of an extra criterion to the Curaçao criteria is suggested.

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