Familial Thoracic Aortic Aneurysm And Aortic Dissection

Description

Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Thoracic Aortic Aneurysm And Aortic Dissection

  • Scoliosis
  • Hypertelorism
  • Hypertension
  • Dilatation
  • Patent ductus arteriosus
  • Inguinal hernia
  • Retrognathia
  • Pes planus
  • Stroke
  • Arachnodactyly

And another 35 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Familial Thoracic Aortic Aneurysm And Aortic Dissection Is also known as familial taad.

Researches and researchers

Doctors, researchs, and experts related to Familial Thoracic Aortic Aneurysm And Aortic Dissection extracted from public data.

Familial Thoracic Aortic Aneurysm And Aortic Dissection Experts map



Current Researchs and researchers

  • PARIS — Dr Louise BENARROCH

    Investigator of research project

    • Institution/s:
      — CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
    • Research area/topic::

      Identification of new genes involved in Marfan syndrome and Familial Thoracic Aortic Aneurysm and Dissection


  • PARIS — Pr Guillaume JONDEAU

    Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research project - Manager of registry - Coordinator of expert centre network - Coordinator of research network

    • Institution/s:
      — Inserm U1148 Laboratoire de recherche vasculaire translationelle, CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
      — Service de cardiologie, CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
      — CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
    • Research area/topic::

      GDPM-2 : phenotypical monotony and genetic diversity of non-atherosclerotic arterial disease



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Familial Thoracic Aortic Aneurysm And Aortic Dissection Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
14 %
FBN1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

FBN1
Specificity
100 %
Genes
7 %
FBN1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

FBN1
Specificity
100 %
Genes
7 %
FBN1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

FBN1
Specificity
100 %
Genes
7 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC34A1, SLC9A3R1, TNFRSF11A, TNFRSF11B, IFITM5, SP7, FKBP10, P3H1, SLC39A13, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FBN1, ALPL, SERPINF1, PLOD2, PLOD3, PPIB , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
7 %
NGS Aortic Dysfunction or Dilation and Related Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, ELN, FBLN5, FBN1, FBN2, SMAD3, MYH11, MYLK, NOTCH1, PLOD1
Specificity
48 %
Genes
60 %
NGS Connective Tissue Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 13 more genes
Specificity
28 %
Genes
60 %
Marfan syndrome.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

FBN1
Specificity
100 %
Genes
7 %

We have 676 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT; SPG36 SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO NEMALINE MYOPATHY 10; NEM10 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET; DMAT

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more