Introduction: Hereditary hemorrhagic telangiectasia (HHT) (Rendu-Osler disease) is a rare autosomal do-minant disorder with significant morbi-mortality cha-racterized by mucocutaneous telangiectasias and arte-riovenous malformations, particularly in liver, lungs and brain. Pulmonary hypertension (PH) is recognized as a severe complication of this pathology, with mul-tiple mechanisms being involved in its development. Case presentation: A 48-year old female presented with progressively worsening dyspnea within the last 4 years and recurrent episodes of epistaxis. She was dia-gnosed at the age of 20 with HHT with secondary seve-re anemia requiring frequent blood transfusions.
Methods: An abdominal CT scan revealed multiple in-trahepatic arteriovenous and arterioportal shunts and teleangiectasias, while the thoracic CT scan showed no vascular anomalies. The clinical examination reve-aled pale skin, oral teleangiectases, moderate bilateral lower limb edema and important hepatosplenomegaly. An accentuated S2 and a grade III/VI systolic tricus-pid murmur were heard. Resting ECG showed sinus rhythm and incomplete right bundle branch block with secondary repolarization changes. Lab studies revealed severe anemia, elevated serum BNP levels. The tran-sthoracic echocardiography showed dilation of all car-diac chambers with normal left ventricular (LV) systo-lic function and grade III diastolic dysfunction, signs of pulmonary hypertension (PH) (estimated systolic pulmonary pressure of 85 mmHg) with mild right ven-tricular dysfunction, moderate tricuspid regurgitation. Also, a wide LV outpouching located in the basal infe-rior wall is revealed, containing all three cardiac layers, with synchronous systolic contractility, suggesting a congenital LV diverticulum. Right heart catheterizati-on confirmed post-capillary PH and dip-and-plateau pattern of both ventricular pressure curves, with a di-astolic pressure difference >5 mmHg, suggestive for re-strictive cardiomyopathy. Haematological assessment excludes amyloidosis and cardiac magnetic resonance (CMR) excludes secondary cardiac hemochromatosis. Results: T he final diagnosis was PH caused by high output cardiac failure due to multiple intrahepatic vascular shunts. Treatment with loop diuretic and al-dosterone antagonist was started, together with hema-tological substitution and the patient was referred for gastroenterological evaluation. An angio-CT revealed a source of bleeding and embolization of an arteriove-nous malformation of the superior mesenteric artery was performed. The curative solution of the heart fai-lure would be surgical management of hepatic vascular shunts, which are extremely numerous and cannot be managed by selective embolization, thus enforcing the need of liver transplant. Particularity: The incidental finding of the congenital LV diverticulum, having an uncommon location and no coexisting cardiac defects, thus an interesting association of a rare cardiac malfor-mation in a patient with a rare hereditary pathology, hereditary hemorrhagic telangiectasia.
Conclusions: HHT can associate both arterial PH and post-capillary PH, the second being more frequent considering the hepatic vascular malformations and secondary anemia. Differentiation between both forms of PH in HHT is essential, since both entities are asso-ciated with important morbi-mortality and have speci-fic treatment options.