Miscellaneous Echo finding (brief notes)

Ehlers-Danlos Syndrome:

 A heterogeneous group of connective tissue disorders with simple Mendelian inheritance. The cardinal manifestations of EDS are hyperextensible (stretchy) skin, hypermobile joints and easy bruising.

Echo/Doppler: Aortic root dilation, sinus de Valsalva aneurysm, Dilation of the proximal innominate artery, MVP, AVP, VSD, ASD, Tetralogy of Fallot, Aortic coarctation, Bicuspid AV, and Dextrocardia.

Fabry’s Disease:

          An X-linked recessive inborn error of glycosphingolipid metabolism.

          Echo/Doppler: MVP, increased LV wall thickness/mass, Aortic root dilation, MR, diastolic dysfunction.

Friedreich’s Ataxia:

          Cardiac abnormalities are a characteristic feature of the autosomal recessively inherited spinocerebellar degeneration known as FA, which is the most common hereditary ataxia.

          Echo/Doppler: Concentric Hypertrophy, Globally decreased LV systolic function, EF and FS. Increased left Atrial dimension.

Glycogen storage disease:

          A group of inheritable disorders of glycogen metabolism, resulting from specific enzymatic defects; Pompe’s disease (GSD type IIa) is a classic form of infantile GSD and is autosomal recessive.

          Echo/Doppler: severe thickness of the IVS, free wall and LVPW with a tumor-like appearance of the papillary muscles with small LV cavity. Poor global LV systolic function.

Holt-Oram (Heart-Hand) Syndrome:

          An autosomal dominant syndrome characterized by skeletal abnormalities and congenital cardiac defects.

          Echo/Doppler: ASD (ostium secundum), dilation of the right heart and paradoxical motion of IVS consistent with RVOL. VSD (trabecular type), may present with complex congenital heart disease/vascular malformations, Nonobstructive CM and MVP.

Loeys-Dietz syndrome (Aortic Aneurysm Syndrome):

          Autosomal dominant aortic aneurysm syndrome characterized by the triad of arterial tortuosity and aneurysms, hypertolerism and cleft palate. Aggressive arterial aneurysm (mean age of death 26 years of age), vascular disease may be widespread, and increased pregnancy related complications.

Marfan’s Syndrome:

          A hereditary condition of connective tissue, bones, muscles, ligaments and skeletal structures.  

          Echo/Doppler: Proximal aortic dilatation, multivalvular prolapse, dilated mitral annulus, MAC, left Atrial compression, LVVOL, AI, MR, aortic dissection (most common cause of death) and CAD.

Lyme disease:

          Caused by tick-borne spirochete, Borrelia burgdorferi, initial infection marked by rash, followed by weeks to months by involvement of other organ systems, including the heart, neurologic system and joints.

          Echo/Doppler: severe AV node block associated with syncope; DCM.

Noonan’s Syndrome:

          A inherited autosomal dominant manner and is characterized by congenital heart disease, short stature, abnormal facies and somatic features of Turner’s Syndrome but normal karyotype.

          Echo/Doppler: PV stenosis, Secundum ASD, VSD, PDA, and localized anterior septal hypertrophy.

Phen-fen:

          The appetite suppressants phentermine, fenfluramine and dexfenfluramine, alone or in combination, have been implicated as causing valvular disease; complication uncommon with less than 6 months of use.

          Echo/Doppler: thickened MV/Chordae Tendineae, thickened AV, mild or greater AR, mod or greater MR, pulmonary HTN.

 

Bibliography

Armstrong, W. F., & Ryan, T. (2010). Feigenbaum's Echocardiography. Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins.

Reynolds, T. (2013). The Echocardiographer's Pocket Reference. USA: Arizona Heart Foundation.