646 TAVI IN PATIENT SUFFERING FROM SITUS INVERSUS AND DEXTROCARDIA WITH CONCOMITANT NIEMANN-PICK DISEASE
Authors: De Feo Daniele 
Published: December 2022

De Feo Daniele, D’ Anzi Anna, Pestrichella Vincenzo, Lafranceschina Carlo, Tiecco Fabio, Antonelli Gianfranco, Caragnano Vito, Scialpi Antonella, Laronga Giuliana, Ciccone Marco Matteo

Università degli studi di Bari “Aldo Moro”, U.O.C. Malattie dell’apparato Cardiovascolare

TAVI in Patient suffering from situs inversus and dextrocardia with concomitant Niemann – Pick disease (acid sphingomyelinase deficiency)

Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick (NP) disease is a rare, autosomal recessive disorder characterized by deficiency of the lysosomal enzyme acid sphingomyelinase (ASM), that results into an excessive storage of lipids in multiple organs including spleen, liver, lung, bone marrow, lymph nodes and most certainly also in vascular system, hence, some of them preciously present coronary artery disease. In literature, few cases of moderate to severe valvular heart disease are described too, although the precise pathogenetic mechanism is not understood.

Most Acid sphingomyelinase deficiency (ASMD) reports in literature concern infantile forms, whilst way less cases about disease onset in adults are described, being consequently still poorly understood, and characterized.

We report a case of a patient who recently discovered in his adulthood to be affected by Niemann-Pick (NP) disease subtype B. ASMD diagnosis is often delayed by months to years because of the complex signs and symptoms that overlap with other disorders. In fact, our patient firstly searched for medical attention for hepatosplenomegaly and thrombocytopenia and then he underwent to genetic tests that highlighted SMPD1 gene 6 exon homozygous mutation. Then, he performed deepening exams that also showed: Situs inversus (also called situs transversus or oppositus), a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions; COPD for which he periodically submits to instrumental exam and pneumological visits, femoral osteoporosis and lumbar osteopenia, that cause walking deficits; and anxious – depressive syndrome.

When the patient started complaining about dyspnoea for mild and moderate efforts and described some episodes of spontaneous vertigo he went to cardiologic visit and heart US that highlighted the presence of severe aortic stenosis.

In literature, there are only few cases of patient affected by ASMD who were diagnosed with severe aortic stenosis. Most of them were submitted to AVR and they all developed some complications for which exitus occurred.

Few cases of patients with situs inversus who underwent to TAVI are described in literature as well Although it was a high-risk patient, with no previous described experiences about it, he was eligible to be undergone to Trans Aortic Valvular Implantation (TAVI) which was successfully performed.

Hence, here we describe a rare case of a patient suffering from Niemann-Pick (NP) disease with concomitant Situs inversus having severe aortic stenosis, but we also show that no complications occurred after performing TAVI, respect to literature described Aortic Valve Replacement.

Further studies are surely needed, but we showed that TAVI, when feasible, may be considered the treatment of choice to solve severe aortic stenosis out.